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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

dbSNP