rs121909362

Orientation

plus

Stabilized

plus

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

Make rs121909362(C;T)

Make rs121909362(T;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

42699919

Gene

GHR

is a	snp
is	mentioned by
dbSNP	rs121909362
dbSNP (classic)	rs121909362
ClinGen	rs121909362
ebi	rs121909362
HLI	rs121909362
Exac	rs121909362
Gnomad	rs121909362
Varsome	rs121909362
LitVar	rs121909362
Map	rs121909362
PheGenI	rs121909362
Biobank	rs121909362
1000 genomes	rs121909362
hgdp	rs121909362
ensembl	rs121909362
geneview	rs121909362
scholar	rs121909362
google	rs121909362
pharmgkb	rs121909362
gwascentral	rs121909362
openSNP	rs121909362
23andMe	rs121909362
SNPshot	rs121909362
SNPdbe	rs121909362
MSV3d	rs121909362
GWAS Ctlg	rs121909362

GMAF

0.002296

Max Magnitude

0

OMIM	600946
Desc
Variant	0007
Related	also

ClinVar
Risk	rs121909362(T;T)
Alt	rs121909362(T;T)
Reference	Rs121909362(C;C)
Significance	Pathogenic
Disease	Short stature not specified
Variation	info
Gene	GHR
CLNDBN	Short stature, idiopathic, autosomal not specified
Reversed	0
HGVS	NC_000005.9:g.42700021C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009169.3, RCV000255291.2,