4023[Gene_ID] - SNP

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Select item 2471.

rs247 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:19953280 (GRCh38)
8:19810791 (GRCh37)
Canonical SPDI:: NC_000008.11:19953279:A:C
Gene:: LPL (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.013289/315 (ALFA)
C=0./0 (ALSPAC)
C=0.00027/1 (TWINSUK)
C=0.005886/1477 (GnomAD_exomes)
C=0.006915/825 (ExAC)
C=0.013889/3 (Qatari)
C=0.020612/103 (1000Genomes)
C=0.020885/2929 (GnomAD)
C=0.021742/5755 (TOPMED)
C=0.023451/305 (GoESP)
A=0.5/3 (SGDP_PRJ)
HGVS:: NC_000008.11:g.19953280A>C, NC_000008.10:g.19810791A>C, NG_008855.2:g.56564A>C

Select item 2482.

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 2493.

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 2504.

rs250 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TG [Show Flanks]
Chromosome:: 8:19953512 (GRCh38)
8:19811024 (GRCh37)
Canonical SPDI:: NC_000008.11:19953512:TGTGTG:TGTGTGTG
Gene:: LPL (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTG=0.162257/3017 (ALFA)
TG=0.083333/50 (NorthernSweden)
TG=0.089063/399 (Estonian)
TG=0.103206/103 (GoNL)
TG=0.123768/477 (ALSPAC)
TG=0.125/5 (GENOME_DK)
TG=0.127292/472 (TWINSUK)
TG=0.131004/240 (Korea1K)
TG=0.156062/2616 (TOMMO)
TG=0.158879/34 (Vietnamese)
TG=0.211823/29659 (GnomAD)
TG=0.221508/58631 (TOPMED)
TG=0.241255/1208 (1000Genomes)
HGVS:: NC_000008.11:g.19953513TG[4], NC_000008.10:g.19811024TG[4], NG_008855.2:g.56797TG[4]

Select item 2515.

rs251 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:19953649 (GRCh38)
8:19811160 (GRCh37)
Canonical SPDI:: NC_000008.11:19953648:T:C
Gene:: LPL (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.021954/756 (ALFA)
C=0.000539/2 (TWINSUK)
C=0.000778/3 (ALSPAC)
C=0.003645/61 (TOMMO)
C=0.041667/9 (Qatari)
C=0.043696/6125 (GnomAD)
C=0.046825/12394 (TOPMED)
C=0.057308/287 (1000Genomes)
C=0.069422/5461 (PAGE_STUDY)
C=0.07716/25 (HapMap)
T=0.45/18 (SGDP_PRJ)
HGVS:: NC_000008.11:g.19953649T>C, NC_000008.10:g.19811160T>C, NG_008855.2:g.56933T>C

LitVar

Select item 2536.

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 2547.

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 2558.

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 2569.

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 26410.

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 26611.

rs266 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:19955788 (GRCh38)
8:19813299 (GRCh37)
Canonical SPDI:: NC_000008.11:19955787:A:G
Gene:: LPL (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.034894/653 (ALFA)
G=0./0 (PRJEB36033)
G=0.000539/2 (TWINSUK)
G=0.000778/3 (ALSPAC)
G=0.001873/1 (MGP)
G=0.003195/2 (Chileans)
G=0.003247/2 (Vietnamese)
G=0.003645/61 (TOMMO)
G=0.034069/71 (HGDP_Stanford)
G=0.037037/8 (Qatari)
G=0.039715/5559 (GnomAD)
G=0.042374/11216 (TOPMED)
G=0.054341/272 (1000Genomes)
G=0.130952/154 (HapMap)
A=0.413043/19 (SGDP_PRJ)
HGVS:: NC_000008.11:g.19955788A>G, NC_000008.10:g.19813299A>G, NG_008855.2:g.59072A>G

Select item 26812.

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 26913.

rs269 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 8:19956156 (GRCh38)
8:19813667 (GRCh37)
Canonical SPDI:: NC_000008.11:19956155:T:A,NC_000008.11:19956155:T:G
Gene:: LPL (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.167553/5292 (ALFA)
G=0.14/84 (NorthernSweden)
G=0.15/6 (GENOME_DK)
G=0.15625/700 (Estonian)
G=0.181889/701 (ALSPAC)
G=0.182365/182 (GoNL)
G=0.188242/698 (TWINSUK)
G=0.194869/357 (Korea1K)
G=0.20785/609 (KOREAN)
G=0.212963/46 (Vietnamese)
G=0.215939/3619 (TOMMO)
G=0.222222/48 (Qatari)
G=0.230337/123 (MGP)
G=0.238095/20 (PRJEB36033)
G=0.270566/71616 (TOPMED)
G=0.288257/1444 (1000Genomes)
G=0.315539/597 (HapMap)
T=0.388393/87 (SGDP_PRJ)
T=0.5/8 (Siberian)
HGVS:: NC_000008.11:g.19956156T>A, NC_000008.11:g.19956156T>G, NC_000008.10:g.19813667T>A, NC_000008.10:g.19813667T>G, NG_008855.2:g.59440T>A, NG_008855.2:g.59440T>G

Select item 27014.

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 27115.

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 27216.

rs272 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 8:19956417 (GRCh38)
8:19813928 (GRCh37)
Canonical SPDI:: NC_000008.11:19956416:C:A,NC_000008.11:19956416:C:G
Gene:: LPL (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.020042/289 (ALFA)
G=0./0 (ALSPAC)
G=0.00027/1 (TWINSUK)
G=0.013889/3 (Qatari)
G=0.025297/127 (1000Genomes)
G=0.026525/7021 (TOPMED)
C=0.5/4 (SGDP_PRJ)
HGVS:: NC_000008.11:g.19956417C>A, NC_000008.11:g.19956417C>G, NC_000008.10:g.19813928C>A, NC_000008.10:g.19813928C>G, NG_008855.2:g.59701C>A, NG_008855.2:g.59701C>G

Select item 29917.

rs299 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:19959369 (GRCh38)
8:19816880 (GRCh37)
Canonical SPDI:: NC_000008.11:19959368:C:T
Gene:: LPL (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign,benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000641/23 (ALFA)
T=0./0 (HapMap)
T=0.00037/93 (GnomAD_exomes)
T=0.00043/52 (ExAC)
T=0.001398/196 (GnomAD)
T=0.001549/410 (TOPMED)
T=0.001562/8 (1000Genomes)
T=0.001999/26 (GoESP)
HGVS:: NC_000008.11:g.19959369C>T, NC_000008.10:g.19816880C>T, NG_008855.2:g.62653C>T, NM_000237.3:c.1128C>T, NM_000237.2:c.1128C>T

Select item 30018.

rs300 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:19959376 (GRCh38)
8:19816887 (GRCh37)
Canonical SPDI:: NC_000008.11:19959375:A:G
Gene:: LPL (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: benign,benign-likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000331/92 (ALFA)
G=0.0008/201 (GnomAD_exomes)
G=0.001084/131 (ExAC)
G=0.003534/495 (GnomAD)
G=0.003592/18 (1000Genomes)
G=0.003925/1039 (TOPMED)
G=0.004383/57 (GoESP)
G=0.00463/1 (Qatari)
G=0.006303/496 (PAGE_STUDY)
G=0.008224/5 (HapMap)
A=0.5/1 (SGDP_PRJ)
HGVS:: NC_000008.11:g.19959376A>G, NC_000008.10:g.19816887A>G, NG_008855.2:g.62660A>G, NM_000237.3:c.1135A>G, NM_000237.2:c.1135A>G, NP_000228.1:p.Thr379Ala

LitVar

Select item 30119.

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 31620.

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

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