rs730880282

Orientation

plus

Stabilized

plus

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

Make rs730880282(C;C)

Make rs730880282(C;G)

Reference

GRCh38.p2 38.2/144

Chromosome

5

Position

42713519

Gene

GHR

is a	snp
is	mentioned by
dbSNP	rs730880282
dbSNP (classic)	rs730880282
ClinGen	rs730880282
ebi	rs730880282
HLI	rs730880282
Exac	rs730880282
Gnomad	rs730880282
Varsome	rs730880282
LitVar	rs730880282
Map	rs730880282
PheGenI	rs730880282
Biobank	rs730880282
1000 genomes	rs730880282
hgdp	rs730880282
ensembl	rs730880282
geneview	rs730880282
scholar	rs730880282
google	rs730880282
pharmgkb	rs730880282
gwascentral	rs730880282
openSNP	rs730880282
23andMe	rs730880282
SNPshot	rs730880282
SNPdbe	rs730880282
MSV3d	rs730880282
GWAS Ctlg	rs730880282

Max Magnitude

0

ClinVar
Risk	rs730880282(C;C)
Alt	rs730880282(C;C)
Reference	Rs730880282(G;G)
Significance	Pathogenic
Disease	Laron syndrome with elevated serum GH-binding protein
Variation	info
Gene	GHR
CLNDBN	Laron syndrome with elevated serum GH-binding protein
Reversed	0
HGVS	NC_000005.9:g.42713621G>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000009176.6,