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rs267607213

From SNPedia

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


Make rs267607213(A;A)
ReferenceGRCh38 38.1/141
Chromosome19
Position11100286
GeneLDLR
is asnp
is mentioned by
dbSNPrs267607213
ebirs267607213
HLIrs267607213
Exacrs267607213
Varsomers267607213
Maprs267607213
PheGenIrs267607213
hapmaprs267607213
1000 genomesrs267607213
hgdprs267607213
ensemblrs267607213
gopubmedrs267607213
geneviewrs267607213
scholarrs267607213
googlers267607213
pharmgkbrs267607213
gwascentralrs267607213
openSNPrs267607213
23andMers267607213
23andMe allrs267607213
SNP Nexus

SNPshotrs267607213
SNPdbers267607213
MSV3drs267607213
GWAS Ctlgrs267607213
Max Magnitude4

aka c.131G>A, p.Trp44Ter or W44X

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

ClinVar
Risk rs267607213(A;A)
Alt rs267607213(A;A)
Reference rs267607213(G;G)
Significance Other
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11210962G>A
CLNSRC LDLR @ LOVD OMIM Allelic Variant
CLNACC RCV000003939.6,