rs121909359

Orientation

plus

Stabilized

plus

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

Make rs121909359(A;A)

Make rs121909359(A;C)

Reference

GRCh38 38.1/141

Chromosome

5

Position

42688921

Gene

GHR

is a	snp
is	mentioned by
dbSNP	rs121909359
dbSNP (classic)	rs121909359
ClinGen	rs121909359
ebi	rs121909359
HLI	rs121909359
Exac	rs121909359
Gnomad	rs121909359
Varsome	rs121909359
LitVar	rs121909359
Map	rs121909359
PheGenI	rs121909359
Biobank	rs121909359
1000 genomes	rs121909359
hgdp	rs121909359
ensembl	rs121909359
geneview	rs121909359
scholar	rs121909359
google	rs121909359
pharmgkb	rs121909359
gwascentral	rs121909359
openSNP	rs121909359
23andMe	rs121909359
SNPshot	rs121909359
SNPdbe	rs121909359
MSV3d	rs121909359
GWAS Ctlg	rs121909359

Max Magnitude

0

OMIM	600946
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121909359(A;A)
Alt	rs121909359(A;A)
Reference	Rs121909359(C;C)
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.42689023C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000009166.5,