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rs875989938

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 5 Familial Hypercholesterolemia
(G;G) 0 common/normal
(G;T) 5 Familial Hypercholesterolemia
Make rs875989938(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position11120412
GeneLDLR
is asnp
is mentioned by
dbSNPrs875989938
dbSNP (classic)rs875989938
ClinGenrs875989938
ebirs875989938
HLIrs875989938
Exacrs875989938
Gnomadrs875989938
Varsomers875989938
LitVarrs875989938
Maprs875989938
PheGenIrs875989938
Biobankrs875989938
1000 genomesrs875989938
hgdprs875989938
ensemblrs875989938
geneviewrs875989938
scholarrs875989938
googlers875989938
pharmgkbrs875989938
gwascentralrs875989938
openSNPrs875989938
23andMers875989938
23andMe allrs875989938
SNPshotrs875989938
SNPdbers875989938
MSV3drs875989938
GWAS Ctlgrs875989938
Max Magnitude5
ClinVar
Risk rs875989938(A;A) rs875989938(T;T)
Alt rs875989938(A;A) rs875989938(T;T)
Reference Rs875989938(G;G)
Significance Other
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11231088G>A; NC_000019.9:g.11231088G>T
CLNSRC LDLR @ LOVD
CLNACC RCV000238301.1, RCV000211595.2,