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rs750474121

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs750474121(C;C)
Make rs750474121(C;G)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11102765
GeneLDLR
is asnp
is mentioned by
dbSNPrs750474121
ebirs750474121
HLIrs750474121
Exacrs750474121
Varsomers750474121
Maprs750474121
PheGenIrs750474121
hapmaprs750474121
1000 genomesrs750474121
hgdprs750474121
ensemblrs750474121
gopubmedrs750474121
geneviewrs750474121
scholarrs750474121
googlers750474121
pharmgkbrs750474121
gwascentralrs750474121
openSNPrs750474121
23andMers750474121
23andMe allrs750474121
SNP Nexus

SNPshotrs750474121
SNPdbers750474121
MSV3drs750474121
GWAS Ctlgrs750474121
Max Magnitude0
ClinVar
Risk rs750474121(A,C;A,C)
Alt rs750474121(A,C;A,C)
Reference rs750474121(G;G)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11213441G>A; NC_000019.9:g.11213441G>C
CLNSRC LDLR @ LOVD
CLNACC RCV000238329.1, RCV000237458.1,