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rs121908502

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908502(C;T)
Make rs121908502(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position42223478
GeneSTAT5B
is asnp
is mentioned by
dbSNPrs121908502
ebirs121908502
HLIrs121908502
Exacrs121908502
Varsomers121908502
Maprs121908502
PheGenIrs121908502
hapmaprs121908502
1000 genomesrs121908502
hgdprs121908502
ensemblrs121908502
gopubmedrs121908502
geneviewrs121908502
scholarrs121908502
googlers121908502
pharmgkbrs121908502
gwascentralrs121908502
openSNPrs121908502
23andMers121908502
23andMe allrs121908502
SNP Nexus

SNPshotrs121908502
SNPdbers121908502
MSV3drs121908502
GWAS Ctlgrs121908502
Max Magnitude0
OMIM604260
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121908502(T;T)
Alt rs121908502(T;T)
Reference rs121908502(C;C)
Significance Pathogenic
Disease Growth hormone insensitivity with immunodeficiency
Variation info
Gene STAT5B
CLNDBN Growth hormone insensitivity with immunodeficiency
Reversed 1
HGVS NC_000017.10:g.40375496G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006051.2,