rs121909363

Orientation

plus

Stabilized

plus

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

Make rs121909363(T;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

42711291

Gene

GHR

is a	snp
is	mentioned by
dbSNP	rs121909363
dbSNP (classic)	rs121909363
ClinGen	rs121909363
ebi	rs121909363
HLI	rs121909363
Exac	rs121909363
Gnomad	rs121909363
Varsome	rs121909363
LitVar	rs121909363
Map	rs121909363
PheGenI	rs121909363
Biobank	rs121909363
1000 genomes	rs121909363
hgdp	rs121909363
ensembl	rs121909363
geneview	rs121909363
scholar	rs121909363
google	rs121909363
pharmgkb	rs121909363
gwascentral	rs121909363
openSNP	rs121909363
23andMe	rs121909363
SNPshot	rs121909363
SNPdbe	rs121909363
MSV3d	rs121909363
GWAS Ctlg	rs121909363

Max Magnitude

0

aka c.703C>T (p.Arg235Ter or R235X)

OMIM	600946
Desc
Variant	0009
Related	also

ClinVar
Risk	rs121909363(T;T)
Alt	rs121909363(T;T)
Reference	Rs121909363(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.42711393C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000009171.3,