rs121909372

Orientation

plus

Stabilized

plus

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

Make rs121909372(C;C)

Make rs121909372(C;G)

Reference

GRCh38 38.1/141

Chromosome

5

Position

42694985

Gene

GHR

is a	snp
is	mentioned by
dbSNP	rs121909372
dbSNP (classic)	rs121909372
ClinGen	rs121909372
ebi	rs121909372
HLI	rs121909372
Exac	rs121909372
Gnomad	rs121909372
Varsome	rs121909372
LitVar	rs121909372
Map	rs121909372
PheGenI	rs121909372
Biobank	rs121909372
1000 genomes	rs121909372
hgdp	rs121909372
ensembl	rs121909372
geneview	rs121909372
scholar	rs121909372
google	rs121909372
pharmgkb	rs121909372
gwascentral	rs121909372
openSNP	rs121909372
23andMe	rs121909372
SNPshot	rs121909372
SNPdbe	rs121909372
MSV3d	rs121909372
GWAS Ctlg	rs121909372

Max Magnitude

0

OMIM	600946
Desc
Variant	0032
Related	also

ClinVar
Risk	rs121909372(C;C)
Alt	rs121909372(C;C)
Reference	Rs121909372(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.42695087G>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000009194.3,