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rs121908501

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908501(C;C)
Make rs121908501(C;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position42210189
GeneSTAT5B
is asnp
is mentioned by
dbSNPrs121908501
ebirs121908501
HLIrs121908501
Exacrs121908501
Varsomers121908501
Maprs121908501
PheGenIrs121908501
hapmaprs121908501
1000 genomesrs121908501
hgdprs121908501
ensemblrs121908501
gopubmedrs121908501
geneviewrs121908501
scholarrs121908501
googlers121908501
pharmgkbrs121908501
gwascentralrs121908501
openSNPrs121908501
23andMers121908501
23andMe allrs121908501
SNP Nexus

SNPshotrs121908501
SNPdbers121908501
MSV3drs121908501
GWAS Ctlgrs121908501
Max Magnitude0
OMIM604260
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121908501(C;C)
Alt rs121908501(C;C)
Reference rs121908501(G;G)
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.40362207C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000006048.2,