rs1057517003

Orientation

minus

Stabilized

minus

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

Make rs1057517003(C;C)

Make rs1057517003(C;T)

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

2168489

Gene

TH

is a	snp
is	mentioned by
dbSNP	rs1057517003
dbSNP (classic)	rs1057517003
ClinGen	rs1057517003
ebi	rs1057517003
HLI	rs1057517003
Exac	rs1057517003
Gnomad	rs1057517003
Varsome	rs1057517003
LitVar	rs1057517003
Map	rs1057517003
PheGenI	rs1057517003
Biobank	rs1057517003
1000 genomes	rs1057517003
hgdp	rs1057517003
ensembl	rs1057517003
geneview	rs1057517003
scholar	rs1057517003
google	rs1057517003
pharmgkb	rs1057517003
gwascentral	rs1057517003
openSNP	rs1057517003
23andMe	rs1057517003
SNPshot	rs1057517003
SNPdbe	rs1057517003
MSV3d	rs1057517003
GWAS Ctlg	rs1057517003

Max Magnitude

0

ClinVar
Risk	rs1057517003(C;C)
Alt	rs1057517003(C;C)
Reference	Rs1057517003(T;T)
Significance	Probable-Pathogenic
Disease	Segawa syndrome
Variation	info
Gene	TH
CLNDBN	Segawa syndrome, autosomal recessive
Reversed	1
HGVS	NC_000011.9:g.2189719A>G
CLNSRC
CLNACC	RCV000409354.1,