328 226 200[uid] - SNP

Select item 3281.

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

Select item 2002.

rs200 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:27907236 (GRCh38)
7:27946855 (GRCh37)
Canonical SPDI:: NC_000007.14:27907235:C:A,NC_000007.14:27907235:C:T
Gene:: JAZF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.05315/1004 (ALFA)
A=0./0 (KOREAN)
C=0./0 (Korea1K)
C=0./0 (TOMMO)
C=0./0 (Vietnamese)
C=0.016304/9 (SGDP_PRJ)
C=0.02439/8 (HapMap)
C=0.025/1 (GENOME_DK)
C=0.027483/138 (1000Genomes)
C=0.048214/216 (Estonian)
C=0.048328/6776 (GnomAD)
C=0.050334/13323 (TOPMED)
C=0.058333/35 (NorthernSweden)
C=0.06012/60 (GoNL)
C=0.066943/258 (ALSPAC)
C=0.071429/4 (Siberian)
C=0.072006/267 (TWINSUK)
C=0.125/27 (Qatari)
HGVS:: NC_000007.14:g.27907236C>A, NC_000007.14:g.27907236C>T, NC_000007.13:g.27946855C>A, NC_000007.13:g.27946855C>T, NG_011499.1:g.278583G>T, NG_011499.1:g.278583G>A

Select item 2263.

rs226 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:7864904 (GRCh38)
3:7906591 (GRCh37)
Canonical SPDI:: NC_000003.12:7864903:T:C
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.03824/824 (ALFA)
C=0.024048/24 (GoNL)
C=0.025/1 (GENOME_DK)
C=0.025/15 (NorthernSweden)
C=0.028023/108 (ALSPAC)
C=0.030294/152 (1000Genomes)
C=0.031803/8418 (TOPMED)
C=0.032407/7 (Qatari)
C=0.033172/123 (TWINSUK)
C=0.036703/5145 (GnomAD)
C=0.037168/42 (Daghestan)
C=0.039216/4 (HapMap)
C=0.054018/242 (Estonian)
T=0.480769/25 (SGDP_PRJ)
T=0.5/1 (Siberian)
HGVS:: NC_000003.12:g.7864904T>C, NC_000003.11:g.7906591T>C

dbSNP