rs121909358

Orientation

plus

Stabilized

plus

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

Make rs121909358(C;T)

Make rs121909358(T;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

42688934

Gene

GHR

is a	snp
is	mentioned by
dbSNP	rs121909358
dbSNP (classic)	rs121909358
ClinGen	rs121909358
ebi	rs121909358
HLI	rs121909358
Exac	rs121909358
Gnomad	rs121909358
Varsome	rs121909358
LitVar	rs121909358
Map	rs121909358
PheGenI	rs121909358
Biobank	rs121909358
1000 genomes	rs121909358
hgdp	rs121909358
ensembl	rs121909358
geneview	rs121909358
scholar	rs121909358
google	rs121909358
pharmgkb	rs121909358
gwascentral	rs121909358
openSNP	rs121909358
23andMe	rs121909358
SNPshot	rs121909358
SNPdbe	rs121909358
MSV3d	rs121909358
GWAS Ctlg	rs121909358

Max Magnitude

0

OMIM	600946
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121909358(G;G) rs121909358(T;T)
Alt	rs121909358(G;G) rs121909358(T;T)
Reference	Rs121909358(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.42689036C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000009165.6,