Have questions? Visit https://www.reddit.com/r/SNPedia

rs121908033

From SNPedia

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


Make rs121908033(A;A)
ReferenceGRCh38 38.1/141
Chromosome19
Position11105429
GeneLDLR
is asnp
is mentioned by
dbSNPrs121908033
ebirs121908033
HLIrs121908033
Exacrs121908033
Varsomers121908033
Maprs121908033
PheGenIrs121908033
hapmaprs121908033
1000 genomesrs121908033
hgdprs121908033
ensemblrs121908033
gopubmedrs121908033
geneviewrs121908033
scholarrs121908033
googlers121908033
pharmgkbrs121908033
gwascentralrs121908033
openSNPrs121908033
23andMers121908033
23andMe allrs121908033
SNP Nexus

SNPshotrs121908033
SNPdbers121908033
MSV3drs121908033
GWAS Ctlgrs121908033
Max Magnitude4

aka c.523G>A, p.Asp175Asn or D175N; also known as FH Afrikaner 3

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

OMIM606945
Desc
Variant0044
Relatedalso
ClinVar
Risk rs121908033(A,T;A,T)
Alt rs121908033(A,T;A,T)
Reference rs121908033(G;G)
Significance Other
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11216105G>A; NC_000019.9:g.11216105G>T
CLNSRC LDLR @ LOVD OMIM Allelic Variant
CLNACC RCV000003924.6, RCV000237816.1,