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rs879254867

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 rs879254867(A;A)
ReferenceGRCh38.p7 38.3/149
Chromosome19
Position11113420
GeneLDLR, MIR6886
is asnp
is mentioned by
dbSNPrs879254867
dbSNP (classic)rs879254867
ClinGenrs879254867
ebirs879254867
HLIrs879254867
Exacrs879254867
Gnomadrs879254867
Varsomers879254867
LitVarrs879254867
Maprs879254867
PheGenIrs879254867
Biobankrs879254867
1000 genomesrs879254867
hgdprs879254867
ensemblrs879254867
geneviewrs879254867
scholarrs879254867
googlers879254867
pharmgkbrs879254867
gwascentralrs879254867
openSNPrs879254867
23andMers879254867
SNPshotrs879254867
SNPdbers879254867
MSV3drs879254867
GWAS Ctlgrs879254867
Max Magnitude5
ClinVar
Risk rs879254867(A;A) rs879254867(C;C) rs879254867(T;T)
Alt rs879254867(A;A) rs879254867(C;C) rs879254867(T;T)
Reference Rs879254867(G;G)
Significance Pathogenic
Disease Familial hypercholesterolemia not provided
Variation info
Gene LDLR MIR6886
CLNDBN Familial hypercholesterolemia not provided
Reversed 0
HGVS NC_000019.9:g.11224096G>A; NC_000019.9:g.11224096G>C; NC_000019.9:g.11224096G>T
CLNSRC LDLR @ LOVD
CLNACC RCV000237315.1, RCV000237729.2, RCV000494596.1, RCV000238274.2,