rs1060499692

Orientation

plus

Stabilized

plus

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

Make rs1060499692(A;A)

Make rs1060499692(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

5

Position

42694931

Gene

GHR

is a	snp
is	mentioned by
dbSNP	rs1060499692
dbSNP (classic)	rs1060499692
ClinGen	rs1060499692
ebi	rs1060499692
HLI	rs1060499692
Exac	rs1060499692
Gnomad	rs1060499692
Varsome	rs1060499692
LitVar	rs1060499692
Map	rs1060499692
PheGenI	rs1060499692
Biobank	rs1060499692
1000 genomes	rs1060499692
hgdp	rs1060499692
ensembl	rs1060499692
geneview	rs1060499692
scholar	rs1060499692
google	rs1060499692
pharmgkb	rs1060499692
gwascentral	rs1060499692
openSNP	rs1060499692
23andMe	rs1060499692
SNPshot	rs1060499692
SNPdbe	rs1060499692
MSV3d	rs1060499692
GWAS Ctlg	rs1060499692

Max Magnitude

0

ClinVar
Risk	rs1060499692(A;A)
Alt	rs1060499692(A;A)
Reference	Rs1060499692(G;G)
Significance	Probable-Pathogenic
Disease	Laron-type isolated somatotropin defect
Variation	info
Gene	GHR
CLNDBN	Laron-type isolated somatotropin defect
Reversed	0
HGVS	NC_000005.9:g.42695033G>A
CLNSRC
CLNACC	RCV000449581.1,