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rs764550980

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs764550980(A;A)
Make rs764550980(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11120152
GeneLDLR
is asnp
is mentioned by
dbSNPrs764550980
ebirs764550980
HLIrs764550980
Exacrs764550980
Varsomers764550980
Maprs764550980
PheGenIrs764550980
hapmaprs764550980
1000 genomesrs764550980
hgdprs764550980
ensemblrs764550980
gopubmedrs764550980
geneviewrs764550980
scholarrs764550980
googlers764550980
pharmgkbrs764550980
gwascentralrs764550980
openSNPrs764550980
23andMers764550980
23andMe allrs764550980
SNP Nexus

SNPshotrs764550980
SNPdbers764550980
MSV3drs764550980
GWAS Ctlgrs764550980
Max Magnitude0
ClinVar
Risk rs764550980(A;A)
Alt rs764550980(A;A)
Reference rs764550980(G;G)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11230828G>A
CLNSRC LDLR @ LOVD
CLNACC RCV000238489.1,