rs1057516491

Orientation

minus

Stabilized

minus

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

Make rs1057516491(-;-)

Make rs1057516491(-;G)

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

2166689

Gene

TH

is a	snp
is	mentioned by
dbSNP	rs1057516491
dbSNP (classic)	rs1057516491
ClinGen	rs1057516491
ebi	rs1057516491
HLI	rs1057516491
Exac	rs1057516491
Gnomad	rs1057516491
Varsome	rs1057516491
LitVar	rs1057516491
Map	rs1057516491
PheGenI	rs1057516491
Biobank	rs1057516491
1000 genomes	rs1057516491
hgdp	rs1057516491
ensembl	rs1057516491
geneview	rs1057516491
scholar	rs1057516491
google	rs1057516491
pharmgkb	rs1057516491
gwascentral	rs1057516491
openSNP	rs1057516491
23andMe	rs1057516491
SNPshot	rs1057516491
SNPdbe	rs1057516491
MSV3d	rs1057516491
GWAS Ctlg	rs1057516491

Max Magnitude

0

ClinVar
Risk	rs1057516491(-;-)
Alt	rs1057516491(-;-)
Reference	Rs1057516491(G;G)
Significance	Probable-Pathogenic
Disease	Segawa syndrome
Variation	info
Gene	TH
CLNDBN	Segawa syndrome, autosomal recessive
Reversed	1
HGVS	NC_000011.9:g.2187919delC
CLNSRC
CLNACC	RCV000412367.1,