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rs745776977

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs745776977(G;T)
Make rs745776977(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11102753
GeneLDLR
is asnp
is mentioned by
dbSNPrs745776977
ebirs745776977
HLIrs745776977
Exacrs745776977
Varsomers745776977
Maprs745776977
PheGenIrs745776977
hapmaprs745776977
1000 genomesrs745776977
hgdprs745776977
ensemblrs745776977
gopubmedrs745776977
geneviewrs745776977
scholarrs745776977
googlers745776977
pharmgkbrs745776977
gwascentralrs745776977
openSNPrs745776977
23andMers745776977
23andMe allrs745776977
SNP Nexus

SNPshotrs745776977
SNPdbers745776977
MSV3drs745776977
GWAS Ctlgrs745776977
Max Magnitude0
ClinVar
Risk rs745776977(A,T;A,T)
Alt rs745776977(A,T;A,T)
Reference rs745776977(G;G)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11213429G>T
CLNSRC LDLR @ LOVD
CLNACC RCV000238044.1,