rs137853221

Orientation

minus

Stabilized

minus

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

Make rs137853221(A;G)

Make rs137853221(G;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

63917803

Gene

GH1

is a	snp
is	mentioned by
dbSNP	rs137853221
dbSNP (classic)	rs137853221
ClinGen	rs137853221
ebi	rs137853221
HLI	rs137853221
Exac	rs137853221
Gnomad	rs137853221
Varsome	rs137853221
LitVar	rs137853221
Map	rs137853221
PheGenI	rs137853221
Biobank	rs137853221
1000 genomes	rs137853221
hgdp	rs137853221
ensembl	rs137853221
geneview	rs137853221
scholar	rs137853221
google	rs137853221
pharmgkb	rs137853221
gwascentral	rs137853221
openSNP	rs137853221
23andMe	rs137853221
SNPshot	rs137853221
SNPdbe	rs137853221
MSV3d	rs137853221
GWAS Ctlg	rs137853221

Max Magnitude

0

OMIM	139250
Desc
Variant	0013
Related	also

ClinVar
Risk	rs137853221(G;G)
Alt	rs137853221(G;G)
Reference	Rs137853221(A;A)
Significance	Pathogenic
Disease	Kowarski syndrome
Variation	info
Gene	GH1
CLNDBN	Kowarski syndrome
Reversed	1
HGVS	NC_000017.10:g.61995163T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000017344.29,