rs1057517423

Orientation

minus

Stabilized

minus

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

Make rs1057517423(C;T)

Make rs1057517423(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

2167909

Gene

TH

is a	snp
is	mentioned by
dbSNP	rs1057517423
dbSNP (classic)	rs1057517423
ClinGen	rs1057517423
ebi	rs1057517423
HLI	rs1057517423
Exac	rs1057517423
Gnomad	rs1057517423
Varsome	rs1057517423
LitVar	rs1057517423
Map	rs1057517423
PheGenI	rs1057517423
Biobank	rs1057517423
1000 genomes	rs1057517423
hgdp	rs1057517423
ensembl	rs1057517423
geneview	rs1057517423
scholar	rs1057517423
google	rs1057517423
pharmgkb	rs1057517423
gwascentral	rs1057517423
openSNP	rs1057517423
23andMe	rs1057517423
SNPshot	rs1057517423
SNPdbe	rs1057517423
MSV3d	rs1057517423
GWAS Ctlg	rs1057517423

Max Magnitude

0

ClinVar
Risk	rs1057517423(T;T)
Alt	rs1057517423(T;T)
Reference	Rs1057517423(C;C)
Significance	Pathogenic
Disease	Segawa syndrome
Variation	info
Gene	TH
CLNDBN	Segawa syndrome, autosomal recessive
Reversed	1
HGVS	NC_000011.9:g.2189139G>A
CLNSRC
CLNACC	RCV000411945.1,