rs121909357

Orientation

plus

Stabilized

plus

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

Make rs121909357(C;C)

Make rs121909357(C;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

42694991

Gene

GHR

is a	snp
is	mentioned by
dbSNP	rs121909357
dbSNP (classic)	rs121909357
ClinGen	rs121909357
ebi	rs121909357
HLI	rs121909357
Exac	rs121909357
Gnomad	rs121909357
Varsome	rs121909357
LitVar	rs121909357
Map	rs121909357
PheGenI	rs121909357
Biobank	rs121909357
1000 genomes	rs121909357
hgdp	rs121909357
ensembl	rs121909357
geneview	rs121909357
scholar	rs121909357
google	rs121909357
pharmgkb	rs121909357
gwascentral	rs121909357
openSNP	rs121909357
23andMe	rs121909357
SNPshot	rs121909357
SNPdbe	rs121909357
MSV3d	rs121909357
GWAS Ctlg	rs121909357

Max Magnitude

0

OMIM	600946
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121909357(C;C)
Alt	rs121909357(C;C)
Reference	Rs121909357(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.42695093T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009164.3,