rs797045111

Orientation

minus

Stabilized

minus

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

Make rs797045111(-;-)

Make rs797045111(-;G)

Reference

GRCh38.p2 38.2/146

Chromosome

11

Position

2169679

Gene

TH

is a	snp
is	mentioned by
dbSNP	rs797045111
dbSNP (classic)	rs797045111
ClinGen	rs797045111
ebi	rs797045111
HLI	rs797045111
Exac	rs797045111
Gnomad	rs797045111
Varsome	rs797045111
LitVar	rs797045111
Map	rs797045111
PheGenI	rs797045111
Biobank	rs797045111
1000 genomes	rs797045111
hgdp	rs797045111
ensembl	rs797045111
geneview	rs797045111
scholar	rs797045111
google	rs797045111
pharmgkb	rs797045111
gwascentral	rs797045111
openSNP	rs797045111
23andMe	rs797045111
SNPshot	rs797045111
SNPdbe	rs797045111
MSV3d	rs797045111
GWAS Ctlg	rs797045111

Max Magnitude

0

ClinVar
Risk	rs797045111(-;-)
Alt	rs797045111(-;-)
Reference	Rs797045111(G;G)
Significance	Pathogenic
Disease	Segawa syndrome
Variation	info
Gene	TH
CLNDBN	Segawa syndrome, autosomal recessive
Reversed	1
HGVS	NC_000011.9:g.2190909delC
CLNSRC
CLNACC	RCV000190632.1,