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rs121434493

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs121434493(C;T)
Make rs121434493(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position18069609
GeneIL12RB1
is asnp
is mentioned by
dbSNPrs121434493
dbSNP (classic)rs121434493
ClinGenrs121434493
ebirs121434493
HLIrs121434493
Exacrs121434493
Gnomadrs121434493
Varsomers121434493
LitVarrs121434493
Maprs121434493
PheGenIrs121434493
Biobankrs121434493
1000 genomesrs121434493
hgdprs121434493
ensemblrs121434493
geneviewrs121434493
scholarrs121434493
googlers121434493
pharmgkbrs121434493
gwascentralrs121434493
openSNPrs121434493
23andMers121434493
SNPshotrs121434493
SNPdbers121434493
MSV3drs121434493
GWAS Ctlgrs121434493
Max Magnitude0
OMIM601604
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121434493(T;T)
Alt rs121434493(T;T)
Reference Rs121434493(C;C)
Significance Pathogenic
Disease Immunodeficiency 30
Variation info
Gene IL12RB1
CLNDBN Immunodeficiency 30
Reversed 1
HGVS NC_000019.9:g.18180419G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008498.3,