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rs72658860

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72658860(A;A)
Make rs72658860(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11110681
GeneLDLR
is asnp
is mentioned by
dbSNPrs72658860
ebirs72658860
HLIrs72658860
Exacrs72658860
Varsomers72658860
Maprs72658860
PheGenIrs72658860
hapmaprs72658860
1000 genomesrs72658860
hgdprs72658860
ensemblrs72658860
gopubmedrs72658860
geneviewrs72658860
scholarrs72658860
googlers72658860
pharmgkbrs72658860
gwascentralrs72658860
openSNPrs72658860
23andMers72658860
23andMe allrs72658860
SNP Nexus

SNPshotrs72658860
SNPdbers72658860
MSV3drs72658860
GWAS Ctlgrs72658860
Max Magnitude0
ClinVar
Risk rs72658860(A;A)
Alt rs72658860(A;A)
Reference rs72658860(G;G)
Significance Probable-Pathogenic
Disease Hypercholesterolaemia not provided Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Hypercholesterolaemia not provided Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11221357G>A
CLNSRC LDLR @ LOVD
CLNACC RCV000148566.1, RCV000162021.1, RCV000237236.1,