rs121909360

Orientation

plus

Stabilized

plus

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

Make rs121909360(A;G)

Make rs121909360(G;G)

Reference

GRCh38 38.1/141

Chromosome

5

Position

42699978

Gene

GHR

is a	snp
is	mentioned by
dbSNP	rs121909360
dbSNP (classic)	rs121909360
ClinGen	rs121909360
ebi	rs121909360
HLI	rs121909360
Exac	rs121909360
Gnomad	rs121909360
Varsome	rs121909360
LitVar	rs121909360
Map	rs121909360
PheGenI	rs121909360
Biobank	rs121909360
1000 genomes	rs121909360
hgdp	rs121909360
ensembl	rs121909360
geneview	rs121909360
scholar	rs121909360
google	rs121909360
pharmgkb	rs121909360
gwascentral	rs121909360
openSNP	rs121909360
23andMe	rs121909360
SNPshot	rs121909360
SNPdbe	rs121909360
MSV3d	rs121909360
GWAS Ctlg	rs121909360

Max Magnitude

0

OMIM	600946
Desc
Variant	0005
Related	also

ClinVar
Risk	rs121909360(G;G)
Alt	rs121909360(G;G)
Reference	Rs121909360(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.42700080A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000009167.6,