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rs185098634

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 4 Dominant mutation associated with Familial Hypercholesterolemia
Make rs185098634(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11116873
GeneLDLR
is asnp
is mentioned by
dbSNPrs185098634
ebirs185098634
HLIrs185098634
Exacrs185098634
Varsomers185098634
Maprs185098634
PheGenIrs185098634
hapmaprs185098634
1000 genomesrs185098634
hgdprs185098634
ensemblrs185098634
gopubmedrs185098634
geneviewrs185098634
scholarrs185098634
googlers185098634
pharmgkbrs185098634
gwascentralrs185098634
openSNPrs185098634
23andMers185098634
23andMe allrs185098634
SNP Nexus

SNPshotrs185098634
SNPdbers185098634
MSV3drs185098634
GWAS Ctlgrs185098634
Max Magnitude4
aka c.1720C>T, p.Arg574Cys or R574C

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

ClinVar
Risk rs185098634(T;T)
Alt rs185098634(T;T)
Reference rs185098634(C;C)
Significance Pathogenic
Disease not provided Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN not provided Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11227549C>T
CLNSRC LDLR @ LOVD
CLNACC RCV000161998.2, RCV000238063.1,