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rs112366278

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;C) 5 Familial Hypercholesterolemia
(A;G) 5 Familial Hypercholesterolemia
Make rs112366278(A;T)
Make rs112366278(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11110650
GeneLDLR
is asnp
is mentioned by
dbSNPrs112366278
dbSNP (old)rs112366278
ClinGenrs112366278
ebirs112366278
HLIrs112366278
Exacrs112366278
Gnomadrs112366278
Varsomers112366278
Maprs112366278
PheGenIrs112366278
Biobankrs112366278
1000 genomesrs112366278
hgdprs112366278
ensemblrs112366278
gopubmedrs112366278
geneviewrs112366278
scholarrs112366278
googlers112366278
pharmgkbrs112366278
gwascentralrs112366278
openSNPrs112366278
23andMers112366278
23andMe allrs112366278
SNPshotrs112366278
SNPdbers112366278
MSV3drs112366278
GWAS Ctlgrs112366278
Max Magnitude5
ClinVar
Risk rs112366278(C;C) rs112366278(G;G) rs112366278(T;T)
Alt rs112366278(C;C) rs112366278(G;G) rs112366278(T;T)
Reference Rs112366278(A;A)
Significance Other
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11221326A>C; NC_000019.9:g.11221326A>G
CLNSRC LDLR @ LOVD
CLNACC RCV000238473.1, RCV000237558.1,