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rs764042910

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs764042910(A;A)
Make rs764042910(A;C)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11105549
GeneLDLR
is asnp
is mentioned by
dbSNPrs764042910
ebirs764042910
HLIrs764042910
Exacrs764042910
Varsomers764042910
Maprs764042910
PheGenIrs764042910
hapmaprs764042910
1000 genomesrs764042910
hgdprs764042910
ensemblrs764042910
gopubmedrs764042910
geneviewrs764042910
scholarrs764042910
googlers764042910
pharmgkbrs764042910
gwascentralrs764042910
openSNPrs764042910
23andMers764042910
23andMe allrs764042910
SNP Nexus

SNPshotrs764042910
SNPdbers764042910
MSV3drs764042910
GWAS Ctlgrs764042910
Max Magnitude0
ClinVar
Risk rs764042910(A,T;A,T)
Alt rs764042910(A,T;A,T)
Reference rs764042910(C;C)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11216225C>A
CLNSRC LDLR @ LOVD
CLNACC RCV000238132.1,