rs121909371

Orientation

plus

Stabilized

plus

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

Make rs121909371(A;A)

Make rs121909371(A;C)

Reference

GRCh38 38.1/141

Chromosome

5

Position

42694953

Gene

GHR

is a	snp
is	mentioned by
dbSNP	rs121909371
dbSNP (classic)	rs121909371
ClinGen	rs121909371
ebi	rs121909371
HLI	rs121909371
Exac	rs121909371
Gnomad	rs121909371
Varsome	rs121909371
LitVar	rs121909371
Map	rs121909371
PheGenI	rs121909371
Biobank	rs121909371
1000 genomes	rs121909371
hgdp	rs121909371
ensembl	rs121909371
geneview	rs121909371
scholar	rs121909371
google	rs121909371
pharmgkb	rs121909371
gwascentral	rs121909371
openSNP	rs121909371
23andMe	rs121909371
SNPshot	rs121909371
SNPdbe	rs121909371
MSV3d	rs121909371
GWAS Ctlg	rs121909371

Max Magnitude

0

OMIM	600946
Desc
Variant	0029
Related	also

ClinVar
Risk	rs121909371(A;A)
Alt	rs121909371(A;A)
Reference	Rs121909371(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.42695055C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000009191.4,