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rs879254398

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 5 Familial Hypercholesterolemia
Make rs879254398(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome19
Position11100231
GeneLDLR
is asnp
is mentioned by
dbSNPrs879254398
dbSNP (classic)rs879254398
ClinGenrs879254398
ebirs879254398
HLIrs879254398
Exacrs879254398
Gnomadrs879254398
Varsomers879254398
LitVarrs879254398
Maprs879254398
PheGenIrs879254398
Biobankrs879254398
1000 genomesrs879254398
hgdprs879254398
ensemblrs879254398
geneviewrs879254398
scholarrs879254398
googlers879254398
pharmgkbrs879254398
gwascentralrs879254398
openSNPrs879254398
23andMers879254398
23andMe allrs879254398
SNPshotrs879254398
SNPdbers879254398
MSV3drs879254398
GWAS Ctlgrs879254398
Max Magnitude5
ClinVar
Risk rs879254398(T;T)
Alt rs879254398(T;T)
Reference Rs879254398(A;A)
Significance Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11210907A>T
CLNSRC LDLR @ LOVD
CLNACC RCV000238438.1,