rs1057517162

Orientation

minus

Stabilized

minus

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

Make rs1057517162(-;-)

Make rs1057517162(-;C)

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

2166530

Gene

TH

is a	snp
is	mentioned by
dbSNP	rs1057517162
dbSNP (classic)	rs1057517162
ClinGen	rs1057517162
ebi	rs1057517162
HLI	rs1057517162
Exac	rs1057517162
Gnomad	rs1057517162
Varsome	rs1057517162
LitVar	rs1057517162
Map	rs1057517162
PheGenI	rs1057517162
Biobank	rs1057517162
1000 genomes	rs1057517162
hgdp	rs1057517162
ensembl	rs1057517162
geneview	rs1057517162
scholar	rs1057517162
google	rs1057517162
pharmgkb	rs1057517162
gwascentral	rs1057517162
openSNP	rs1057517162
23andMe	rs1057517162
SNPshot	rs1057517162
SNPdbe	rs1057517162
MSV3d	rs1057517162
GWAS Ctlg	rs1057517162

Max Magnitude

0

ClinVar
Risk	rs1057517162(-;-)
Alt	rs1057517162(-;-)
Reference	Rs1057517162(C;C)
Significance	Probable-Pathogenic
Disease	Segawa syndrome
Variation	info
Gene	TH
CLNDBN	Segawa syndrome, autosomal recessive
Reversed	1
HGVS	NC_000011.9:g.2187760delG
CLNSRC
CLNACC	RCV000411713.1,