rs121909367

Orientation

plus

Stabilized

plus

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

Make rs121909367(C;C)

Make rs121909367(C;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

42699896

Gene

GHR

is a	snp
is	mentioned by
dbSNP	rs121909367
dbSNP (classic)	rs121909367
ClinGen	rs121909367
ebi	rs121909367
HLI	rs121909367
Exac	rs121909367
Gnomad	rs121909367
Varsome	rs121909367
LitVar	rs121909367
Map	rs121909367
PheGenI	rs121909367
Biobank	rs121909367
1000 genomes	rs121909367
hgdp	rs121909367
ensembl	rs121909367
geneview	rs121909367
scholar	rs121909367
google	rs121909367
pharmgkb	rs121909367
gwascentral	rs121909367
openSNP	rs121909367
23andMe	rs121909367
SNPshot	rs121909367
SNPdbe	rs121909367
MSV3d	rs121909367
GWAS Ctlg	rs121909367

Max Magnitude

0

OMIM	600946
Desc
Variant	0022
Related	also

ClinVar
Risk	rs121909367(C;C)
Alt	rs121909367(C;C)
Reference	Rs121909367(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.42699998T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009186.4,