rs121909373

Orientation

plus

Stabilized

plus

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

Make rs121909373(G;G)

Make rs121909373(G;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

42699888

Gene

GHR

is a	snp
is	mentioned by
dbSNP	rs121909373
dbSNP (classic)	rs121909373
ClinGen	rs121909373
ebi	rs121909373
HLI	rs121909373
Exac	rs121909373
Gnomad	rs121909373
Varsome	rs121909373
LitVar	rs121909373
Map	rs121909373
PheGenI	rs121909373
Biobank	rs121909373
1000 genomes	rs121909373
hgdp	rs121909373
ensembl	rs121909373
geneview	rs121909373
scholar	rs121909373
google	rs121909373
pharmgkb	rs121909373
gwascentral	rs121909373
openSNP	rs121909373
23andMe	rs121909373
SNPshot	rs121909373
SNPdbe	rs121909373
MSV3d	rs121909373
GWAS Ctlg	rs121909373

Max Magnitude

0

OMIM	600946
Desc
Variant	0033
Related	also

ClinVar
Risk	rs121909373(C;C) rs121909373(G;G)
Alt	rs121909373(C;C) rs121909373(G;G)
Reference	Rs121909373(T;T)
Significance	Pathogenic
Disease	Laron-type isolated somatotropin defect
Variation	info
Gene	GHR
CLNDBN	Laron-type isolated somatotropin defect
Reversed	0
HGVS	NC_000005.9:g.42699990T>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000009195.2,