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rs879254800

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;C) 5 Familial Hypercholesterolemia
(A;G) 5 Familial Hypercholesterolemia
Make rs879254800(C;C)
ReferenceGRCh38.p7 38.3/149
Chromosome19
Position11111577
GeneLDLR, MIR6886
is asnp
is mentioned by
dbSNPrs879254800
dbSNP (classic)rs879254800
ClinGenrs879254800
ebirs879254800
HLIrs879254800
Exacrs879254800
Gnomadrs879254800
Varsomers879254800
LitVarrs879254800
Maprs879254800
PheGenIrs879254800
Biobankrs879254800
1000 genomesrs879254800
hgdprs879254800
ensemblrs879254800
geneviewrs879254800
scholarrs879254800
googlers879254800
pharmgkbrs879254800
gwascentralrs879254800
openSNPrs879254800
23andMers879254800
SNPshotrs879254800
SNPdbers879254800
MSV3drs879254800
GWAS Ctlgrs879254800
Max Magnitude5
ClinVar
Risk rs879254800(C;C) rs879254800(G;G)
Alt rs879254800(C;C) rs879254800(G;G)
Reference Rs879254800(A;A)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR MIR6886
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11222253A>C; NC_000019.9:g.11222253A>G
CLNSRC LDLR @ LOVD
CLNACC RCV000237556.1, RCV000237921.1,