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rs121908026

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
(C;T) 4 Dominant mutation associated with Familial Hypercholesterolemia
Make rs121908026(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position11105436
GeneLDLR
is asnp
is mentioned by
dbSNPrs121908026
ebirs121908026
HLIrs121908026
Exacrs121908026
Varsomers121908026
Maprs121908026
PheGenIrs121908026
hapmaprs121908026
1000 genomesrs121908026
hgdprs121908026
ensemblrs121908026
gopubmedrs121908026
geneviewrs121908026
scholarrs121908026
googlers121908026
pharmgkbrs121908026
gwascentralrs121908026
openSNPrs121908026
23andMers121908026
23andMe allrs121908026
SNP Nexus

SNPshotrs121908026
SNPdbers121908026
MSV3drs121908026
GWAS Ctlgrs121908026
Max Magnitude4

aka c.530C>T, p.Ser177Leu or S177L; also known as FH Puerto Rico

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

OMIM606945
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121908026(T;T)
Alt rs121908026(T;T)
Reference rs121908026(C;C)
Significance Other
Disease Familial hypercholesterolemia not provided
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia not provided
Reversed 0
HGVS NC_000019.9:g.11216112C>T
CLNSRC LDLR @ LOVD OMIM Allelic Variant
CLNACC RCV000003871.5, RCV000161958.1,