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rs879255175

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 5 Familial Hypercholesterolemia
(C;G) 5 Familial Hypercholesterolemia
(G;G) 0 common in clinvar
(G;T) 5 Familial Hypercholesterolemia


Make rs879255175(A;A)
ReferenceGRCh38.p7 38.3/149
Chromosome19
Position11123345
GeneLDLR
is asnp
is mentioned by
dbSNPrs879255175
dbSNP (old)rs879255175
ClinGenrs879255175
ebirs879255175
HLIrs879255175
Exacrs879255175
Gnomadrs879255175
Varsomers879255175
Maprs879255175
PheGenIrs879255175
Biobankrs879255175
1000 genomesrs879255175
hgdprs879255175
ensemblrs879255175
gopubmedrs879255175
geneviewrs879255175
scholarrs879255175
googlers879255175
pharmgkbrs879255175
gwascentralrs879255175
openSNPrs879255175
23andMers879255175
23andMe allrs879255175
SNPshotrs879255175
SNPdbers879255175
MSV3drs879255175
GWAS Ctlgrs879255175
Max Magnitude5
ClinVar
Risk rs879255175(A;A) rs879255175(C;C) rs879255175(T;T)
Alt rs879255175(A;A) rs879255175(C;C) rs879255175(T;T)
Reference Rs879255175(G;G)
Significance Other
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11234021G>A; NC_000019.9:g.11234021G>C; NC_000019.9:g.11234021G>T
CLNSRC LDLR @ LOVD
CLNACC RCV000237904.1, RCV000238536.1, RCV000237602.1,