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rs146651743

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;C) 5 Familial Hypercholesterolemia
(C;C) 0 common/normal
(C;G) 5 Familial Hypercholesterolemia
Make rs146651743(C;T)
Make rs146651743(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome19
Position11107402
GeneLDLR
is asnp
is mentioned by
dbSNPrs146651743
dbSNP (classic)rs146651743
ClinGenrs146651743
ebirs146651743
HLIrs146651743
Exacrs146651743
Gnomadrs146651743
Varsomers146651743
LitVarrs146651743
Maprs146651743
PheGenIrs146651743
Biobankrs146651743
1000 genomesrs146651743
hgdprs146651743
ensemblrs146651743
geneviewrs146651743
scholarrs146651743
googlers146651743
pharmgkbrs146651743
gwascentralrs146651743
openSNPrs146651743
23andMers146651743
SNPshotrs146651743
SNPdbers146651743
MSV3drs146651743
GWAS Ctlgrs146651743
Max Magnitude5
ClinVar
Risk rs146651743(A;A) rs146651743(G;G) rs146651743(T;T)
Alt rs146651743(A;A) rs146651743(G;G) rs146651743(T;T)
Reference Rs146651743(C;C)
Significance Other
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11218078C>A; NC_000019.9:g.11218078C>G
CLNSRC LDLR @ LOVD
CLNACC RCV000172961.2, RCV000237617.1,