rs137853222

Orientation

minus

Stabilized

minus

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

Make rs137853222(C;C)

Make rs137853222(C;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

63918072

Gene

GH1

is a	snp
is	mentioned by
dbSNP	rs137853222
dbSNP (classic)	rs137853222
ClinGen	rs137853222
ebi	rs137853222
HLI	rs137853222
Exac	rs137853222
Gnomad	rs137853222
Varsome	rs137853222
LitVar	rs137853222
Map	rs137853222
PheGenI	rs137853222
Biobank	rs137853222
1000 genomes	rs137853222
hgdp	rs137853222
ensembl	rs137853222
geneview	rs137853222
scholar	rs137853222
google	rs137853222
pharmgkb	rs137853222
gwascentral	rs137853222
openSNP	rs137853222
23andMe	rs137853222
SNPshot	rs137853222
SNPdbe	rs137853222
MSV3d	rs137853222
GWAS Ctlg	rs137853222

Max Magnitude

0

OMIM	139250
Desc
Variant	0021
Related	also

ClinVar
Risk	rs137853222(C;C) rs137853222(T;T)
Alt	rs137853222(C;C) rs137853222(T;T)
Reference	Rs137853222(G;G)
Significance	Pathogenic
Disease	Kowarski syndrome
Variation	info
Gene	GH1
CLNDBN	Kowarski syndrome
Reversed	1
HGVS	NC_000017.10:g.61995432C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000017351.28,