rs121909368

Orientation

plus

Stabilized

plus

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

Make rs121909368(A;C)

Make rs121909368(C;C)

Reference

GRCh38 38.1/141

Chromosome

5

Position

42699899

Gene

GHR

is a	snp
is	mentioned by
dbSNP	rs121909368
dbSNP (classic)	rs121909368
ClinGen	rs121909368
ebi	rs121909368
HLI	rs121909368
Exac	rs121909368
Gnomad	rs121909368
Varsome	rs121909368
LitVar	rs121909368
Map	rs121909368
PheGenI	rs121909368
Biobank	rs121909368
1000 genomes	rs121909368
hgdp	rs121909368
ensembl	rs121909368
geneview	rs121909368
scholar	rs121909368
google	rs121909368
pharmgkb	rs121909368
gwascentral	rs121909368
openSNP	rs121909368
23andMe	rs121909368
SNPshot	rs121909368
SNPdbe	rs121909368
MSV3d	rs121909368
GWAS Ctlg	rs121909368

Max Magnitude

0

OMIM	600946
Desc
Variant	0023
Related	also

ClinVar
Risk	rs121909368(C;C)
Alt	rs121909368(C;C)
Reference	Rs121909368(A;A)
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.42700001A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009177.4,