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Select item 2481.

rs248 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:19953315 (GRCh38)
8:19810826 (GRCh37)
Canonical SPDI:: NC_000008.11:19953314:G:A
Gene:: LPL (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.070592/5981 (ALFA)
A=0.030488/10 (HapMap)
A=0.038257/192 (1000Genomes)
A=0.046296/10 (Qatari)
A=0.048689/26 (MGP)
A=0.049866/12534 (GnomAD_exomes)
A=0.05/2 (GENOME_DK)
A=0.051312/6226 (ExAC)
A=0.053886/14263 (TOPMED)
A=0.058426/8192 (GnomAD)
A=0.065431/851 (GoESP)
A=0.065789/20 (FINRISK)
A=0.068136/68 (GoNL)
A=0.06876/265 (ALSPAC)
A=0.072816/270 (TWINSUK)
A=0.081667/49 (NorthernSweden)
A=0.121429/544 (Estonian)
G=0.444444/8 (SGDP_PRJ)
G=0.5/2 (Siberian)
HGVS:: NC_000008.11:g.19953315G>A, NC_000008.10:g.19810826G>A, NG_008855.2:g.56599G>A, NM_000237.3:c.435G>A, NM_000237.2:c.435G>A

PubMed LitVar

Select item 2492.

rs249 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:19953495 (GRCh38)
8:19811006 (GRCh37)
Canonical SPDI:: NC_000008.11:19953494:T:C
Gene:: LPL (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.08563/3089 (ALFA)
C=0.05/2 (GENOME_DK)
C=0.051667/31 (NorthernSweden)
C=0.051887/11 (Vietnamese)
C=0.061798/33 (MGP)
C=0.06587/193 (KOREAN)
C=0.068335/1145 (TOMMO)
C=0.077679/348 (Estonian)
C=0.079558/295 (TWINSUK)
C=0.079917/308 (ALSPAC)
C=0.087963/19 (Qatari)
C=0.088186/23342 (TOPMED)
C=0.091422/12387 (GnomAD)
C=0.092184/92 (GoNL)
C=0.093552/177 (HapMap)
C=0.100718/504 (1000Genomes)
T=0.453488/39 (SGDP_PRJ)
T=0.5/1 (Siberian)
HGVS:: NC_000008.11:g.19953495T>C, NC_000008.10:g.19811006T>C, NG_008855.2:g.56779T>C

PubMed LitVar

Select item 2533.

rs253 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 8:19953906 (GRCh38)
8:19811417 (GRCh37)
Canonical SPDI:: NC_000008.11:19953905:C:G,NC_000008.11:19953905:C:T
Gene:: LPL (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.464268/97499 (ALFA)
T=0.285654/4788 (TOMMO)
T=0.314956/577 (Korea1K)
T=0.321843/943 (KOREAN)
T=0.341121/73 (Vietnamese)
C=0.348315/124 (SGDP_PRJ)
C=0.357143/10 (Siberian)
T=0.375/15 (GENOME_DK)
T=0.402556/252 (Chileans)
T=0.405644/460 (Daghestan)
C=0.411765/28 (PRJEB36033)
T=0.421296/91 (Qatari)
T=0.423848/423 (GoNL)
T=0.441667/265 (NorthernSweden)
T=0.445511/1717 (ALSPAC)
T=0.449136/936 (HGDP_Stanford)
T=0.455232/1688 (TWINSUK)
C=0.467565/65461 (GnomAD)
C=0.472428/891 (HapMap)
C=0.473724/125390 (TOPMED)
C=0.480793/2408 (1000Genomes)
T=0.497991/2231 (Estonian)
HGVS:: NC_000008.11:g.19953906C>G, NC_000008.11:g.19953906C>T, NC_000008.10:g.19811417C>G, NC_000008.10:g.19811417C>T, NG_008855.2:g.57190C>G, NG_008855.2:g.57190C>T

PubMed LitVar

Select item 2544.

rs254 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:19954386 (GRCh38)
8:19811897 (GRCh37)
Canonical SPDI:: NC_000008.11:19954385:C:G
Gene:: LPL (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.165677/4631 (ALFA)
G=0./0 (HapMap)
G=0.103491/1346 (GoESP)
G=0.115/69 (NorthernSweden)
G=0.140402/629 (Estonian)
G=0.141283/141 (GoNL)
G=0.15/6 (GENOME_DK)
G=0.150216/557 (TWINSUK)
G=0.151012/582 (ALSPAC)
G=0.152778/33 (Qatari)
G=0.166667/89 (MGP)
G=0.166996/41423 (GnomAD_exomes)
G=0.170677/20130 (ExAC)
G=0.17596/24647 (GnomAD)
G=0.182338/48263 (TOPMED)
G=0.194323/356 (Korea1K)
G=0.209898/615 (KOREAN)
G=0.211587/1060 (1000Genomes)
G=0.220539/3696 (TOMMO)
C=0.413265/81 (SGDP_PRJ)
C=0.5/8 (Siberian)
HGVS:: NC_000008.11:g.19954386C>G, NC_000008.10:g.19811897C>G, NG_008855.2:g.57670C>G

PubMed LitVar

Select item 2555.

rs255 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:19954390 (GRCh38)
8:19811901 (GRCh37)
Canonical SPDI:: NC_000008.11:19954389:T:C
Gene:: LPL (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.167734/8014 (ALFA)
C=0.099339/1292 (GoESP)
C=0.115/69 (NorthernSweden)
C=0.140402/629 (Estonian)
C=0.141283/141 (GoNL)
C=0.15/6 (GENOME_DK)
C=0.150216/557 (TWINSUK)
C=0.151012/582 (ALSPAC)
C=0.152778/33 (Qatari)
C=0.166838/41243 (GnomAD_exomes)
C=0.168539/90 (MGP)
C=0.170583/20024 (ExAC)
C=0.174851/24497 (GnomAD)
C=0.181322/47994 (TOPMED)
C=0.194323/356 (Korea1K)
C=0.209898/615 (KOREAN)
C=0.210053/397 (HapMap)
C=0.21143/1059 (1000Genomes)
C=0.220575/3697 (TOMMO)
T=0.413265/81 (SGDP_PRJ)
T=0.5/8 (Siberian)
HGVS:: NC_000008.11:g.19954390T>C, NC_000008.10:g.19811901T>C, NG_008855.2:g.57674T>C

PubMed

Select item 2566.

rs256 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:19954456 (GRCh38)
8:19811967 (GRCh37)
Canonical SPDI:: NC_000008.11:19954455:C:T
Gene:: LPL (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.144954/35353 (ALFA)
T=0.106481/23 (Qatari)
T=0.111477/8773 (PAGE_STUDY)
T=0.115/69 (NorthernSweden)
T=0.115625/37 (HapMap)
T=0.119144/16703 (GnomAD)
T=0.122098/32318 (TOPMED)
T=0.129464/580 (Estonian)
T=0.144283/535 (TWINSUK)
T=0.144785/558 (ALSPAC)
T=0.145378/728 (1000Genomes)
T=0.147295/147 (GoNL)
T=0.15/6 (GENOME_DK)
T=0.189086/149 (PRJEB37584)
T=0.194323/356 (Korea1K)
T=0.205607/44 (Vietnamese)
T=0.209556/614 (KOREAN)
T=0.216611/3630 (TOMMO)
C=0.407895/62 (SGDP_PRJ)
C=0.5/8 (Siberian)
HGVS:: NC_000008.11:g.19954456C>T, NC_000008.10:g.19811967C>T, NG_008855.2:g.57740C>T

PubMed LitVar

Select item 2647.

rs264 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:19955669 (GRCh38)
8:19813180 (GRCh37)
Canonical SPDI:: NC_000008.11:19955668:G:A
Gene:: LPL (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.148202/34273 (ALFA)
A=0.121667/73 (NorthernSweden)
A=0.125/27 (Qatari)
A=0.129464/580 (Estonian)
A=0.139006/263 (HapMap)
A=0.139555/19529 (GnomAD)
A=0.142176/11189 (PAGE_STUDY)
A=0.143103/37878 (TOPMED)
A=0.144822/537 (TWINSUK)
A=0.145044/559 (ALSPAC)
A=0.147748/164 (Daghestan)
A=0.148297/148 (GoNL)
A=0.15/6 (GENOME_DK)
A=0.163335/818 (1000Genomes)
A=0.166027/346 (HGDP_Stanford)
A=0.180556/39 (Vietnamese)
A=0.186076/147 (PRJEB37584)
A=0.192686/353 (Korea1K)
A=0.206143/604 (KOREAN)
A=0.212754/3566 (TOMMO)
A=0.238095/10 (PRJEB36033)
G=0.409091/63 (SGDP_PRJ)
G=0.5/8 (Siberian)
HGVS:: NC_000008.11:g.19955669G>A, NC_000008.10:g.19813180G>A, NG_008855.2:g.58953G>A

PubMed LitVar

Select item 2688.

rs268 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:19956018 (GRCh38)
8:19813529 (GRCh37)
Canonical SPDI:: NC_000008.11:19956017:A:G
Gene:: LPL (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: conflicting-interpretations-of-pathogenicity,uncertain-significance,pathogenic,benign,risk-factor
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.016273/3560 (ALFA)
G=0.000035/1 (TOMMO)
G=0.004685/23 (1000Genomes)
G=0.004968/391 (PAGE_STUDY)
G=0.00565/4 (HapMap)
G=0.011043/2923 (TOPMED)
G=0.01278/3212 (GnomAD_exomes)
G=0.013109/7 (MGP)
G=0.013158/4 (FINRISK)
G=0.013274/1862 (GnomAD)
G=0.013363/1622 (ExAC)
G=0.018682/72 (ALSPAC)
G=0.019957/74 (TWINSUK)
G=0.023884/107 (Estonian)
G=0.028333/17 (NorthernSweden)
G=0.028571/2 (PRJEB36033)
G=0.03006/30 (GoNL)
G=0.05/2 (GENOME_DK)
A=0.5/1 (SGDP_PRJ)
HGVS:: NC_000008.11:g.19956018A>G, NC_000008.10:g.19813529A>G, NG_008855.2:g.59302A>G, NM_000237.3:c.953A>G, NM_000237.2:c.953A>G, NP_000228.1:p.Asn318Ser

PubMed LitVar

Select item 2709.

rs270 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:19956165 (GRCh38)
8:19813676 (GRCh37)
Canonical SPDI:: NC_000008.11:19956164:C:A
Gene:: LPL (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.152447/32335 (ALFA)
A=0.064815/14 (Qatari)
A=0.066919/1122 (TOMMO)
A=0.11058/324 (KOREAN)
A=0.114286/24 (Vietnamese)
A=0.114936/217 (HapMap)
A=0.116123/242 (HGDP_Stanford)
A=0.122271/224 (Korea1K)
A=0.125234/627 (1000Genomes)
A=0.133157/151 (Daghestan)
A=0.13503/35741 (TOPMED)
A=0.135271/135 (GoNL)
A=0.142447/19968 (GnomAD)
A=0.15/6 (GENOME_DK)
A=0.162429/626 (ALSPAC)
A=0.162891/604 (TWINSUK)
A=0.164794/88 (MGP)
A=0.175/14 (PRJEB36033)
A=0.190402/853 (Estonian)
A=0.206667/124 (NorthernSweden)
C=0.421569/43 (SGDP_PRJ)
C=0.5/8 (Siberian)
HGVS:: NC_000008.11:g.19956165C>A, NC_000008.10:g.19813676C>A, NG_008855.2:g.59449C>A

PubMed LitVar

Select item 27110.

rs271 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 8:19956191 (GRCh38)
8:19813702 (GRCh37)
Canonical SPDI:: NC_000008.11:19956190:G:A,NC_000008.11:19956190:G:T
Gene:: LPL (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.08595/2213 (ALFA)
A=0.10648/23 (Qatari)
A=0.12167/73 (NorthernSweden)
A=0.12209/231 (HapMap)
A=0.1404/629 (Estonian)
A=0.14272/715 (1000Genomes)
A=0.14968/555 (TWINSUK)
A=0.15/6 (GENOME_DK)
A=0.15153/584 (ALSPAC)
A=0.15431/154 (GoNL)
A=0.16454/103 (Chileans)
A=0.16667/89 (MGP)
A=0.19487/357 (Korea1K)
A=0.20751/608 (KOREAN)
A=0.21495/46 (Vietnamese)
A=0.21566/3614 (TOMMO)
G=0.41216/61 (SGDP_PRJ)
G=0.5/8 (Siberian)
HGVS:: NC_000008.11:g.19956191G>A, NC_000008.11:g.19956191G>T, NC_000008.10:g.19813702G>A, NC_000008.10:g.19813702G>T, NG_008855.2:g.59475G>A, NG_008855.2:g.59475G>T

PubMed LitVar

Select item 30111.

rs301 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:19959423 (GRCh38)
8:19816934 (GRCh37)
Canonical SPDI:: NC_000008.11:19959422:T:C
Gene:: LPL (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.24268/46860 (ALFA)
C=0.172061/101 (Vietnamese)
C=0.173469/136 (PRJEB37584)
C=0.193255/3239 (TOMMO)
C=0.205119/601 (KOREAN)
C=0.21/126 (NorthernSweden)
C=0.240741/52 (Qatari)
C=0.241543/457 (HapMap)
C=0.241614/58705 (GnomAD_exomes)
C=0.248208/19534 (PAGE_STUDY)
C=0.249554/1118 (Estonian)
C=0.25/10 (GENOME_DK)
C=0.254252/67298 (TOPMED)
C=0.255309/1279 (1000Genomes)
C=0.255814/22 (PRJEB36033)
C=0.256351/35882 (GnomAD)
C=0.256579/28139 (ExAC)
C=0.2603/139 (MGP)
C=0.261023/296 (Daghestan)
C=0.341073/4436 (GoESP)
T=0.416667/90 (SGDP_PRJ)
T=0.5/11 (Siberian)
HGVS:: NC_000008.11:g.19959423T>C, NC_000008.10:g.19816934T>C, NG_008855.2:g.62707T>C

PubMed LitVar

Select item 31612.

rs316 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 8:19960925 (GRCh38)
8:19818436 (GRCh37)
Canonical SPDI:: NC_000008.11:19960924:C:A,NC_000008.11:19960924:C:G,NC_000008.11:19960924:C:T
Gene:: LPL (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.126636/26878 (ALFA)
A=0.064371/1079 (TOMMO)
A=0.081332/149 (Korea1K)
A=0.081433/50 (Vietnamese)
A=0.0843/247 (KOREAN)
A=0.099251/53 (MGP)
A=0.112224/112 (GoNL)
A=0.115965/430 (TWINSUK)
A=0.125/5 (GENOME_DK)
A=0.126667/76 (NorthernSweden)
A=0.127141/490 (ALSPAC)
A=0.130435/6 (PRJEB36033)
A=0.143474/299 (HGDP_Stanford)
A=0.150583/284 (HapMap)
A=0.154605/47 (FINRISK)
A=0.155215/777 (1000Genomes)
A=0.15581/177 (Daghestan)
A=0.157139/41593 (TOPMED)
A=0.158619/2063 (GoESP)
A=0.162037/35 (Qatari)
A=0.162071/12755 (PAGE_STUDY)
A=0.169866/761 (Estonian)
C=0.415493/59 (SGDP_PRJ)
C=0.5/7 (Siberian)
HGVS:: NC_000008.11:g.19960925C>A, NC_000008.11:g.19960925C>G, NC_000008.11:g.19960925C>T, NC_000008.10:g.19818436C>A, NC_000008.10:g.19818436C>G, NC_000008.10:g.19818436C>T, NG_008855.2:g.64209C>A, NG_008855.2:g.64209C>G, NG_008855.2:g.64209C>T, NM_000237.3:c.1164C>A, NM_000237.3:c.1164C>G, NM_000237.3:c.1164C>T, NM_000237.2:c.1164C>A, NM_000237.2:c.1164C>G, NM_000237.2:c.1164C>T

PubMed LitVar

Select item 32013.

rs320 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 8:19961566 (GRCh38)
8:19819077 (GRCh37)
Canonical SPDI:: NC_000008.11:19961565:T:A,NC_000008.11:19961565:T:G
Gene:: LPL (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.202154/4637 (ALFA)
G=0.176396/139 (PRJEB37584)
G=0.182243/39 (Vietnamese)
G=0.194706/5502 (TOMMO)
G=0.201965/370 (Korea1K)
G=0.208874/612 (KOREAN)
G=0.225/9 (GENOME_DK)
G=0.247573/51 (HapMap)
G=0.251667/151 (NorthernSweden)
G=0.264286/1184 (Estonian)
G=0.267021/1337 (1000Genomes)
G=0.269417/999 (TWINSUK)
G=0.269487/21207 (PAGE_STUDY)
G=0.276596/1066 (ALSPAC)
G=0.277555/277 (GoNL)
G=0.283815/75123 (TOPMED)
G=0.285336/323 (Daghestan)
G=0.300926/65 (Qatari)
T=0.407563/97 (SGDP_PRJ)
T=0.5/11 (Siberian)
HGVS:: NC_000008.11:g.19961566T>A, NC_000008.11:g.19961566T>G, NC_000008.10:g.19819077T>A, NC_000008.10:g.19819077T>G, NG_008855.2:g.64850T>A, NG_008855.2:g.64850T>G

PubMed LitVar

Select item 32514.

rs325 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 8:19961817 (GRCh38)
8:19819328 (GRCh37)
Canonical SPDI:: NC_000008.11:19961816:T:C,NC_000008.11:19961816:T:G
Gene:: LPL (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.086634/2428 (ALFA)
C=0.066964/300 (Estonian)
C=0.074074/16 (Qatari)
C=0.074873/59 (PRJEB37584)
C=0.07926/6237 (PAGE_STUDY)
C=0.085/51 (NorthernSweden)
C=0.088243/23357 (TOPMED)
C=0.088785/19 (Vietnamese)
C=0.089582/12545 (GnomAD)
C=0.090829/103 (Daghestan)
C=0.093691/469 (1000Genomes)
C=0.09697/32 (HapMap)
C=0.1/4 (GENOME_DK)
C=0.106383/410 (ALSPAC)
C=0.107875/400 (TWINSUK)
C=0.117234/117 (GoNL)
C=0.120819/354 (KOREAN)
C=0.12945/2170 (TOMMO)
C=0.375/12 (PRJEB36033)
T=0.473684/36 (SGDP_PRJ)
T=0.5/3 (Siberian)
HGVS:: NC_000008.11:g.19961817T>C, NC_000008.11:g.19961817T>G, NC_000008.10:g.19819328T>C, NC_000008.10:g.19819328T>G, NG_008855.2:g.65101T>C, NG_008855.2:g.65101T>G

PubMed LitVar

Select item 32615.

rs326 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:19961928 (GRCh38)
8:19819439 (GRCh37)
Canonical SPDI:: NC_000008.11:19961927:A:G
Gene:: LPL (Varview)
Functional Consequence:: intron_variant
Clinical significance:: association,benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.310641/56879 (ALFA)
G=0.014981/8 (MGP)
G=0.175573/138 (PRJEB37584)
G=0.180556/39 (Vietnamese)
G=0.1946/3261 (TOMMO)
G=0.201965/370 (Korea1K)
G=0.208532/611 (KOREAN)
G=0.225/9 (GENOME_DK)
G=0.263333/158 (NorthernSweden)
G=0.272768/1222 (Estonian)
G=0.28754/180 (Chileans)
G=0.289474/22 (PRJEB36033)
G=0.29398/1133 (ALSPAC)
G=0.295577/1096 (TWINSUK)
G=0.295591/295 (GoNL)
G=0.317138/359 (Daghestan)
G=0.361805/1812 (1000Genomes)
G=0.375763/52594 (GnomAD)
G=0.379478/100444 (TOPMED)
A=0.39/117 (SGDP_PRJ)
G=0.392178/742 (HapMap)
G=0.392347/30873 (PAGE_STUDY)
G=0.412037/89 (Qatari)
A=0.5/11 (Siberian)
HGVS:: NC_000008.11:g.19961928A>G, NC_000008.10:g.19819439A>G, NG_008855.2:g.65212A>G

PubMed LitVar

Select item 32716.

rs327 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 8:19962025 (GRCh38)
8:19819536 (GRCh37)
Canonical SPDI:: NC_000008.11:19962024:T:G
Gene:: LPL (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.285126/74066 (ALFA)
G=0.176396/139 (PRJEB37584)
G=0.191589/41 (Vietnamese)
G=0.194423/3259 (TOMMO)
G=0.201965/370 (Korea1K)
G=0.208532/611 (KOREAN)
G=0.25/150 (NorthernSweden)
G=0.265176/166 (Chileans)
G=0.265179/1188 (Estonian)
G=0.275/11 (GENOME_DK)
G=0.27562/1022 (TWINSUK)
G=0.279559/279 (GoNL)
G=0.282304/1088 (ALSPAC)
G=0.291519/330 (Daghestan)
G=0.299625/160 (MGP)
G=0.301374/1509 (1000Genomes)
G=0.307407/581 (HapMap)
G=0.311753/24535 (PAGE_STUDY)
G=0.313487/82977 (TOPMED)
G=0.313698/43939 (GnomAD)
G=0.347222/75 (Qatari)
T=0.403846/105 (SGDP_PRJ)
T=0.5/11 (Siberian)
HGVS:: NC_000008.11:g.19962025T>G, NC_000008.10:g.19819536T>G, NG_008855.2:g.65309T>G

PubMed LitVar

Select item 32817.

rs328 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 8:19962213 (GRCh38)
8:19819724 (GRCh37)
Canonical SPDI:: NC_000008.11:19962212:C:A,NC_000008.11:19962212:C:G
Gene:: LPL (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.099621/11450 (ALFA)
G=0.066964/300 (Estonian)
G=0.074074/16 (Qatari)
G=0.074684/59 (PRJEB37584)
G=0.07904/6220 (PAGE_STUDY)
G=0.085/51 (NorthernSweden)
G=0.087925/23273 (TOPMED)
G=0.089338/12522 (GnomAD)
G=0.091711/104 (Daghestan)
G=0.092105/28 (FINRISK)
G=0.092156/23148 (GnomAD_exomes)
G=0.093501/11340 (ExAC)
G=0.093535/468 (1000Genomes)
G=0.097561/32 (HapMap)
G=0.1/4 (GENOME_DK)
G=0.106642/411 (ALSPAC)
G=0.107875/400 (TWINSUK)
G=0.118236/118 (GoNL)
G=0.120819/354 (KOREAN)
G=0.127036/78 (Vietnamese)
G=0.129344/2168 (TOMMO)
G=0.151685/81 (MGP)
G=0.196078/20 (PRJEB36033)
C=0.473684/36 (SGDP_PRJ)
C=0.5/3 (Siberian)
HGVS:: NC_000008.11:g.19962213C>A, NC_000008.11:g.19962213C>G, NC_000008.10:g.19819724C>A, NC_000008.10:g.19819724C>G, NG_008855.2:g.65497C>A, NG_008855.2:g.65497C>G, NM_000237.3:c.1421C>A, NM_000237.3:c.1421C>G, NM_000237.2:c.1421C>A, NM_000237.2:c.1421C>G, NP_000228.1:p.Ser474Ter, NP_000228.1:p.Ser474Ter

PubMed LitVar

Select item 33318.

rs333 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTCAGTATCAATTCTGGAAGAATTTCCAGACA>- [Show Flanks]
Chromosome:: 3:46373456 (GRCh38)
3:46414947 (GRCh37)
Canonical SPDI:: NC_000003.12:46373452:ACAGTCAGTATCAATTCTGGAAGAATTTCCAGACA:ACA
Gene:: CCR5 (Varview), CCR5AS (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,intron_variant
Clinical significance:: risk-factor,protective,benign
Validated:: by frequency,by alfa,by cluster
MAF:: ACA=0.092857/2358 (ALFA)
-=0.000071/1 (TOMMO)
-=0.00463/1 (Vietnamese)
-=0.024652/1940 (PAGE_STUDY)
-=0.029357/147 (1000Genomes)
-=0.060429/755 (GoESP)
-=0.072628/8805 (ExAC)
-=0.074164/275 (TWINSUK)
-=0.074261/18640 (GnomAD_exomes)
-=0.074329/10414 (GnomAD)
-=0.093669/361 (ALSPAC)
-=0.106667/64 (NorthernSweden)
-=0.117857/528 (Estonian)
-=0.25/10 (GENOME_DK)
HGVS:: NC_000003.12:g.46373456_46373487del, NC_000003.11:g.46414947_46414978del, NG_012637.1:g.8315_8346del, NM_000579.4:c.554_585del, NM_000579.3:c.554_585del, NM_001100168.2:c.554_585del, NM_001100168.1:c.554_585del, NM_001394783.1:c.554_585del, NM_001105536.1:c.554_585del, NP_000570.1:p.Ser185fs, NP_001093638.1:p.Ser185fs, NP_001381712.1:p.Ser185fs

PubMed LitVar

Select item 33419.

rs334 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 11:5227002 (GRCh38)
11:5248232 (GRCh37)
Canonical SPDI:: NC_000011.10:5227001:T:A,NC_000011.10:5227001:T:C,NC_000011.10:5227001:T:G
Gene:: HBB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: protective,other,pathogenic,benign,likely-benign,conflicting-interpretations-of-pathogenicity
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000785/35 (ALFA)
A=0./0 (PRJEB36033)
G=0.000546/1 (Korea1K)
G=0.001711/5 (KOREAN)
A=0.00348/874 (GnomAD_exomes)
A=0.004384/532 (ExAC)
A=0.012978/1820 (GnomAD)
A=0.018519/4 (Qatari)
A=0.028732/144 (1000Genomes)
A=0.040373/13 (HapMap)
T=0.5/5 (SGDP_PRJ)
HGVS:: NC_000011.10:g.5227002T>A, NC_000011.10:g.5227002T>C, NC_000011.10:g.5227002T>G, NC_000011.9:g.5248232T>A, NC_000011.9:g.5248232T>C, NC_000011.9:g.5248232T>G, NG_000007.3:g.70614A>T, NG_000007.3:g.70614A>G, NG_000007.3:g.70614A>C, NG_059281.1:g.5070A>T, NG_059281.1:g.5070A>G, NG_059281.1:g.5070A>C, NM_000518.5:c.20A>T, NM_000518.5:c.20A>G, NM_000518.5:c.20A>C, NM_000518.4:c.20A>T, NM_000518.4:c.20A>G, NM_000518.4:c.20A>C, NG_046672.1:g.4937T>A, NG_046672.1:g.4937T>C, NG_046672.1:g.4937T>G, NG_042296.1:g.533T>A, NG_042296.1:g.533T>C, NG_042296.1:g.533T>G, NP_000509.1:p.Glu7Val, NP_000509.1:p.Glu7Gly, NP_000509.1:p.Glu7Ala

PubMed LitVar

Select item 34320.

rs343 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:19953276 (GRCh38)
8:19810787 (GRCh37)
Canonical SPDI:: NC_000008.11:19953275:C:A
Gene:: LPL (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.091178/13894 (ALFA)
A=0.0625/280 (Estonian)
A=0.065/39 (NorthernSweden)
A=0.069288/37 (MGP)
A=0.07189/935 (GoESP)
A=0.072144/72 (GoNL)
A=0.080445/11274 (GnomAD)
A=0.084412/313 (TWINSUK)
A=0.086131/22798 (TOPMED)
A=0.088998/343 (ALSPAC)
A=0.090588/154 (HapMap)
A=0.096451/11430 (ExAC)
A=0.09837/24640 (GnomAD_exomes)
A=0.101852/22 (Qatari)
A=0.103998/521 (1000Genomes)
A=0.125/229 (Korea1K)
A=0.125/5 (GENOME_DK)
A=0.135855/2277 (TOMMO)
A=0.138261/404 (KOREAN)
A=0.138978/87 (Chileans)
A=0.160377/34 (Vietnamese)
C=0.403509/46 (SGDP_PRJ)
C=0.5/6 (Siberian)
HGVS:: NC_000008.11:g.19953276C>A, NC_000008.10:g.19810787C>A, NG_008855.2:g.56560C>A

PubMed LitVar

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