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rs756613387

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs756613387(C;G)
Make rs756613387(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11105572
GeneLDLR
is asnp
is mentioned by
dbSNPrs756613387
ebirs756613387
HLIrs756613387
Exacrs756613387
Varsomers756613387
Maprs756613387
PheGenIrs756613387
hapmaprs756613387
1000 genomesrs756613387
hgdprs756613387
ensemblrs756613387
gopubmedrs756613387
geneviewrs756613387
scholarrs756613387
googlers756613387
pharmgkbrs756613387
gwascentralrs756613387
openSNPrs756613387
23andMers756613387
23andMe allrs756613387
SNP Nexus

SNPshotrs756613387
SNPdbers756613387
MSV3drs756613387
GWAS Ctlgrs756613387
Max Magnitude0
ClinVar
Risk rs756613387(A,G;A,G)
Alt rs756613387(A,G;A,G)
Reference rs756613387(C;C)
Significance Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11216248C>A; NC_000019.9:g.11216248C>G
CLNSRC LDLR @ LOVD
CLNACC RCV000238311.1, RCV000237365.1,