rs137853220

Orientation

minus

Stabilized

minus

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

Make rs137853220(C;T)

Make rs137853220(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

63917909

Gene

GH1

is a	snp
is	mentioned by
dbSNP	rs137853220
dbSNP (classic)	rs137853220
ClinGen	rs137853220
ebi	rs137853220
HLI	rs137853220
Exac	rs137853220
Gnomad	rs137853220
Varsome	rs137853220
LitVar	rs137853220
Map	rs137853220
PheGenI	rs137853220
Biobank	rs137853220
1000 genomes	rs137853220
hgdp	rs137853220
ensembl	rs137853220
geneview	rs137853220
scholar	rs137853220
google	rs137853220
pharmgkb	rs137853220
gwascentral	rs137853220
openSNP	rs137853220
23andMe	rs137853220
SNPshot	rs137853220
SNPdbe	rs137853220
MSV3d	rs137853220
GWAS Ctlg	rs137853220

Max Magnitude

0

OMIM	139250
Desc
Variant	0008
Related	also

ClinVar
Risk	rs137853220(T;T)
Alt	rs137853220(T;T)
Reference	Rs137853220(C;C)
Significance	Pathogenic
Disease	Kowarski syndrome
Variation	info
Gene	GH1
CLNDBN	Kowarski syndrome
Reversed	1
HGVS	NC_000017.10:g.61995269G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000017339.26,