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rs121908036

From SNPedia

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


Make rs121908036(C;C)
ReferenceGRCh38 38.1/141
Chromosome19
Position11113388
GeneLDLR, MIR6886
is asnp
is mentioned by
dbSNPrs121908036
ebirs121908036
HLIrs121908036
Exacrs121908036
Varsomers121908036
Maprs121908036
PheGenIrs121908036
hapmaprs121908036
1000 genomesrs121908036
hgdprs121908036
ensemblrs121908036
gopubmedrs121908036
geneviewrs121908036
scholarrs121908036
googlers121908036
pharmgkbrs121908036
gwascentralrs121908036
openSNPrs121908036
23andMers121908036
23andMe allrs121908036
SNP Nexus

SNPshotrs121908036
SNPdbers121908036
MSV3drs121908036
GWAS Ctlgrs121908036
Max Magnitude4

aka c.1297G>C, p.Asp433His or D433H; also known as FH Osaka 3

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

OMIM606945
Desc
Variant0050
Relatedalso
ClinVar
Risk rs121908036(C;C)
Alt rs121908036(C;C)
Reference rs121908036(G;G)
Significance Other
Disease Familial hypercholesterolemia
Variation info
Gene LDLR MIR6886
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11224064G>C; NC_000019.9:g.11224064G>T
CLNSRC LDLR @ LOVD OMIM Allelic Variant
CLNACC RCV000003930.6, RCV000237834.1,