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rs112954220

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs112954220(C;T)
Make rs112954220(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11120470
GeneLDLR
is asnp
is mentioned by
dbSNPrs112954220
ebirs112954220
HLIrs112954220
Exacrs112954220
Varsomers112954220
Maprs112954220
PheGenIrs112954220
hapmaprs112954220
1000 genomesrs112954220
hgdprs112954220
ensemblrs112954220
gopubmedrs112954220
geneviewrs112954220
scholarrs112954220
googlers112954220
pharmgkbrs112954220
gwascentralrs112954220
openSNPrs112954220
23andMers112954220
23andMe allrs112954220
SNP Nexus

SNPshotrs112954220
SNPdbers112954220
MSV3drs112954220
GWAS Ctlgrs112954220
Max Magnitude0
ClinVar
Risk rs112954220(A,G,T;A,G,T)
Alt rs112954220(A,G,T;A,G,T)
Reference rs112954220(C;C)
Significance Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11231146C>A; NC_000019.9:g.11231146C>G
CLNSRC LDLR @ LOVD
CLNACC RCV000238181.1, RCV000237261.1,