rs1057516712

Orientation

minus

Stabilized

minus

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

Make rs1057516712(-;-)

Make rs1057516712(-;G)

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

2167011

Gene

TH

is a	snp
is	mentioned by
dbSNP	rs1057516712
dbSNP (classic)	rs1057516712
ClinGen	rs1057516712
ebi	rs1057516712
HLI	rs1057516712
Exac	rs1057516712
Gnomad	rs1057516712
Varsome	rs1057516712
LitVar	rs1057516712
Map	rs1057516712
PheGenI	rs1057516712
Biobank	rs1057516712
1000 genomes	rs1057516712
hgdp	rs1057516712
ensembl	rs1057516712
geneview	rs1057516712
scholar	rs1057516712
google	rs1057516712
pharmgkb	rs1057516712
gwascentral	rs1057516712
openSNP	rs1057516712
23andMe	rs1057516712
SNPshot	rs1057516712
SNPdbe	rs1057516712
MSV3d	rs1057516712
GWAS Ctlg	rs1057516712

Max Magnitude

0

ClinVar
Risk	rs1057516712(-;-)
Alt	rs1057516712(-;-)
Reference	Rs1057516712(G;G)
Significance	Probable-Pathogenic
Disease	Segawa syndrome
Variation	info
Gene	TH
CLNDBN	Segawa syndrome, autosomal recessive
Reversed	1
HGVS	NC_000011.9:g.2188241delC
CLNSRC
CLNACC	RCV000409078.1,