rs121908501

Orientation

minus

Stabilized

minus

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

Make rs121908501(C;C)

Make rs121908501(C;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

42210189

Gene

STAT5B

is a	snp
is	mentioned by
dbSNP	rs121908501
dbSNP (classic)	rs121908501
ClinGen	rs121908501
ebi	rs121908501
HLI	rs121908501
Exac	rs121908501
Gnomad	rs121908501
Varsome	rs121908501
LitVar	rs121908501
Map	rs121908501
PheGenI	rs121908501
Biobank	rs121908501
1000 genomes	rs121908501
hgdp	rs121908501
ensembl	rs121908501
geneview	rs121908501
scholar	rs121908501
google	rs121908501
pharmgkb	rs121908501
gwascentral	rs121908501
openSNP	rs121908501
23andMe	rs121908501
SNPshot	rs121908501
SNPdbe	rs121908501
MSV3d	rs121908501
GWAS Ctlg	rs121908501

Max Magnitude

0

OMIM	604260
Desc
Variant	0001
Related	also

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 UniProtKB (protein)
CLNACC	RCV000006048.2,