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rs121908041

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908041(C;C)
Make rs121908041(C;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position11100292
GeneLDLR
is asnp
is mentioned by
dbSNPrs121908041
ebirs121908041
HLIrs121908041
Exacrs121908041
Varsomers121908041
Maprs121908041
PheGenIrs121908041
hapmaprs121908041
1000 genomesrs121908041
hgdprs121908041
ensemblrs121908041
gopubmedrs121908041
geneviewrs121908041
scholarrs121908041
googlers121908041
pharmgkbrs121908041
gwascentralrs121908041
openSNPrs121908041
23andMers121908041
23andMe allrs121908041
SNP Nexus

SNPshotrs121908041
SNPdbers121908041
MSV3drs121908041
GWAS Ctlgrs121908041
Max Magnitude0

aka c.137G>C, p.Cys46Ser or C46S

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

OMIM606945
Desc
Variant0061
Relatedalso
ClinVar
Risk rs121908041(C;C)
Alt rs121908041(C;C)
Reference rs121908041(G;G)
Significance Other
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11210968G>A; NC_000019.9:g.11210968G>C
CLNSRC LDLR @ LOVD OMIM Allelic Variant
CLNACC RCV000237705.1, RCV000003940.3,