Have questions? Visit https://www.reddit.com/r/SNPedia

rs121434494

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs121434494(C;T)
Make rs121434494(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position18075812
GeneIL12RB1
is asnp
is mentioned by
dbSNPrs121434494
dbSNP (classic)rs121434494
ClinGenrs121434494
ebirs121434494
HLIrs121434494
Exacrs121434494
Gnomadrs121434494
Varsomers121434494
LitVarrs121434494
Maprs121434494
PheGenIrs121434494
Biobankrs121434494
1000 genomesrs121434494
hgdprs121434494
ensemblrs121434494
geneviewrs121434494
scholarrs121434494
googlers121434494
pharmgkbrs121434494
gwascentralrs121434494
openSNPrs121434494
23andMers121434494
SNPshotrs121434494
SNPdbers121434494
MSV3drs121434494
GWAS Ctlgrs121434494
Max Magnitude0
OMIM601604
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121434494(T;T)
Alt rs121434494(T;T)
Reference Rs121434494(C;C)
Significance Pathogenic
Disease Immunodeficiency 30
Variation info
Gene IL12RB1
CLNDBN Immunodeficiency 30
Reversed 1
HGVS NC_000019.9:g.18186622G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000008500.3,