rs1057516736

Orientation

minus

Stabilized

minus

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

Make rs1057516736(A;A)

Make rs1057516736(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

2166632

Gene

TH

is a	snp
is	mentioned by
dbSNP	rs1057516736
dbSNP (classic)	rs1057516736
ClinGen	rs1057516736
ebi	rs1057516736
HLI	rs1057516736
Exac	rs1057516736
Gnomad	rs1057516736
Varsome	rs1057516736
LitVar	rs1057516736
Map	rs1057516736
PheGenI	rs1057516736
Biobank	rs1057516736
1000 genomes	rs1057516736
hgdp	rs1057516736
ensembl	rs1057516736
geneview	rs1057516736
scholar	rs1057516736
google	rs1057516736
pharmgkb	rs1057516736
gwascentral	rs1057516736
openSNP	rs1057516736
23andMe	rs1057516736
SNPshot	rs1057516736
SNPdbe	rs1057516736
MSV3d	rs1057516736
GWAS Ctlg	rs1057516736

Max Magnitude

0

ClinVar
Risk	rs1057516736(A;A)
Alt	rs1057516736(A;A)
Reference	Rs1057516736(G;G)
Significance	Probable-Pathogenic
Disease	Segawa syndrome
Variation	info
Gene	TH
CLNDBN	Segawa syndrome, autosomal recessive
Reversed	1
HGVS	NC_000011.9:g.2187862C>T
CLNSRC
CLNACC	RCV000410635.1,