rs121909370

Orientation

plus

Stabilized

plus

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

Make rs121909370(A;A)

Make rs121909370(A;G)

Reference

GRCh38 38.1/141

Chromosome

5

Position

42629069

Gene

GHR

is a	snp
is	mentioned by
dbSNP	rs121909370
dbSNP (classic)	rs121909370
ClinGen	rs121909370
ebi	rs121909370
HLI	rs121909370
Exac	rs121909370
Gnomad	rs121909370
Varsome	rs121909370
LitVar	rs121909370
Map	rs121909370
PheGenI	rs121909370
Biobank	rs121909370
1000 genomes	rs121909370
hgdp	rs121909370
ensembl	rs121909370
geneview	rs121909370
scholar	rs121909370
google	rs121909370
pharmgkb	rs121909370
gwascentral	rs121909370
openSNP	rs121909370
23andMe	rs121909370
SNPshot	rs121909370
SNPdbe	rs121909370
MSV3d	rs121909370
GWAS Ctlg	rs121909370

Max Magnitude

0

OMIM	600946
Desc
Variant	0027
Related	also

ClinVar
Risk	rs121909370(A;A) rs121909370(C;C)
Alt	rs121909370(A;A) rs121909370(C;C)
Reference	Rs121909370(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.42629171G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000009189.3,