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rs749220643

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs749220643(A;A)
Make rs749220643(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome19
Position11106681
GeneLDLR
is asnp
is mentioned by
dbSNPrs749220643
ebirs749220643
HLIrs749220643
Exacrs749220643
Varsomers749220643
Maprs749220643
PheGenIrs749220643
hapmaprs749220643
1000 genomesrs749220643
hgdprs749220643
ensemblrs749220643
gopubmedrs749220643
geneviewrs749220643
scholarrs749220643
googlers749220643
pharmgkbrs749220643
gwascentralrs749220643
openSNPrs749220643
23andMers749220643
23andMe allrs749220643
SNP Nexus

SNPshotrs749220643
SNPdbers749220643
MSV3drs749220643
GWAS Ctlgrs749220643
Max Magnitude0
ClinVar
Risk rs749220643(A;A)
Alt rs749220643(A;A)
Reference rs749220643(G;G)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11217357G>A
CLNSRC
CLNACC RCV000172960.1,