rs121909366

Orientation

plus

Stabilized

plus

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

Make rs121909366(C;C)

Make rs121909366(C;G)

Reference

GRCh38 38.1/141

Chromosome

5

Position

42699892

Gene

GHR

is a	snp
is	mentioned by
dbSNP	rs121909366
dbSNP (classic)	rs121909366
ClinGen	rs121909366
ebi	rs121909366
HLI	rs121909366
Exac	rs121909366
Gnomad	rs121909366
Varsome	rs121909366
LitVar	rs121909366
Map	rs121909366
PheGenI	rs121909366
Biobank	rs121909366
1000 genomes	rs121909366
hgdp	rs121909366
ensembl	rs121909366
geneview	rs121909366
scholar	rs121909366
google	rs121909366
pharmgkb	rs121909366
gwascentral	rs121909366
openSNP	rs121909366
23andMe	rs121909366
SNPshot	rs121909366
SNPdbe	rs121909366
MSV3d	rs121909366
GWAS Ctlg	rs121909366

Max Magnitude

0

OMIM	600946
Desc
Variant	0021
Related	also

ClinVar
Risk	rs121909366(C;C)
Alt	rs121909366(C;C)
Reference	Rs121909366(G;G)
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.42699994G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009185.3,