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rs121908037

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 4 Dominant mutation associated with Familial Hypercholesterolemia
(G;G) 0 common in complete genomics


Make rs121908037(A;A)
ReferenceGRCh38 38.1/141
Chromosome19
Position11129654
GeneLDLR
is asnp
is mentioned by
dbSNPrs121908037
ebirs121908037
HLIrs121908037
Exacrs121908037
Varsomers121908037
Maprs121908037
PheGenIrs121908037
hapmaprs121908037
1000 genomesrs121908037
hgdprs121908037
ensemblrs121908037
gopubmedrs121908037
geneviewrs121908037
scholarrs121908037
googlers121908037
pharmgkbrs121908037
gwascentralrs121908037
openSNPrs121908037
23andMers121908037
23andMe allrs121908037
SNP Nexus

SNPshotrs121908037
SNPdbers121908037
MSV3drs121908037
GWAS Ctlgrs121908037
Max Magnitude4

aka c.2531G>A, p.Gly844Asp or G844D; also known as FH Turku

reported in ClinVar as pathogenic for familial hypercholesterolemia and therefore increased risk for coronary artery disease

OMIM606945
Desc
Variant0052
Relatedalso
ClinVar
Risk rs121908037(A;A)
Alt rs121908037(A;A)
Reference rs121908037(G;G)
Significance Other
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11240330G>A
CLNSRC LDLR @ LOVD OMIM Allelic Variant
CLNACC RCV000003932.5,