rs1057516874

Orientation

minus

Stabilized

minus

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

Make rs1057516874(-;-)

Make rs1057516874(-;TCCCCACAGTCCCCGCGGTTCATTGG)

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

2169855

Gene

TH

is a	snp
is	mentioned by
dbSNP	rs1057516874
dbSNP (classic)	rs1057516874
ClinGen	rs1057516874
ebi	rs1057516874
HLI	rs1057516874
Exac	rs1057516874
Gnomad	rs1057516874
Varsome	rs1057516874
LitVar	rs1057516874
Map	rs1057516874
PheGenI	rs1057516874
Biobank	rs1057516874
1000 genomes	rs1057516874
hgdp	rs1057516874
ensembl	rs1057516874
geneview	rs1057516874
scholar	rs1057516874
google	rs1057516874
pharmgkb	rs1057516874
gwascentral	rs1057516874
openSNP	rs1057516874
23andMe	rs1057516874
SNPshot	rs1057516874
SNPdbe	rs1057516874
MSV3d	rs1057516874
GWAS Ctlg	rs1057516874

Max Magnitude

0

ClinVar
Risk	rs1057516874(-;-)
Alt	rs1057516874(-;-)
Reference	Rs1057516874(TCCCCACAGTCCCCGCGGTTCATTGG;TCCCCACAGTCCCCGCGGTTCATTGG)
Significance	Probable-Pathogenic
Disease	Segawa syndrome
Variation	info
Gene	TH
CLNDBN	Segawa syndrome, autosomal recessive
Reversed	1
HGVS	NC_000011.9:g.2191085_2191110del26
CLNSRC
CLNACC	RCV000409032.1,