rs121909365

Orientation

plus

Stabilized

plus

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

Make rs121909365(A;A)

Make rs121909365(A;C)

Reference

GRCh38 38.1/141

Chromosome

5

Position

42699830

Gene

GHR

is a	snp
is	mentioned by
dbSNP	rs121909365
dbSNP (classic)	rs121909365
ClinGen	rs121909365
ebi	rs121909365
HLI	rs121909365
Exac	rs121909365
Gnomad	rs121909365
Varsome	rs121909365
LitVar	rs121909365
Map	rs121909365
PheGenI	rs121909365
Biobank	rs121909365
1000 genomes	rs121909365
hgdp	rs121909365
ensembl	rs121909365
geneview	rs121909365
scholar	rs121909365
google	rs121909365
pharmgkb	rs121909365
gwascentral	rs121909365
openSNP	rs121909365
23andMe	rs121909365
SNPshot	rs121909365
SNPdbe	rs121909365
MSV3d	rs121909365
GWAS Ctlg	rs121909365

Max Magnitude

0

OMIM	600946
Desc
Variant	0019
Related	also

ClinVar
Risk	rs121909365(A;A)
Alt	rs121909365(A;A)
Reference	Rs121909365(C;C)
Significance	Pathogenic
Disease	Laron syndrome with undetectable serum GH-binding protein
Variation	info
Gene	GHR
CLNDBN	Laron syndrome with undetectable serum GH-binding protein
Reversed	0
HGVS	NC_000005.9:g.42699932C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009183.3,