rs121908502

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs121908502(C;T)

Make rs121908502(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

42223478

Gene

STAT5B

is a	snp
is	mentioned by
dbSNP	rs121908502
dbSNP (classic)	rs121908502
ClinGen	rs121908502
ebi	rs121908502
HLI	rs121908502
Exac	rs121908502
Gnomad	rs121908502
Varsome	rs121908502
LitVar	rs121908502
Map	rs121908502
PheGenI	rs121908502
Biobank	rs121908502
1000 genomes	rs121908502
hgdp	rs121908502
ensembl	rs121908502
geneview	rs121908502
scholar	rs121908502
google	rs121908502
pharmgkb	rs121908502
gwascentral	rs121908502
openSNP	rs121908502
23andMe	rs121908502
SNPshot	rs121908502
SNPdbe	rs121908502
MSV3d	rs121908502
GWAS Ctlg	rs121908502

Max Magnitude

0

OMIM	604260
Desc
Variant	0004
Related	also

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,