rs1057516819

Orientation

minus

Stabilized

minus

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

Make rs1057516819(A;A)

Make rs1057516819(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

2166001

Gene

TH

is a	snp
is	mentioned by
dbSNP	rs1057516819
dbSNP (classic)	rs1057516819
ClinGen	rs1057516819
ebi	rs1057516819
HLI	rs1057516819
Exac	rs1057516819
Gnomad	rs1057516819
Varsome	rs1057516819
LitVar	rs1057516819
Map	rs1057516819
PheGenI	rs1057516819
Biobank	rs1057516819
1000 genomes	rs1057516819
hgdp	rs1057516819
ensembl	rs1057516819
geneview	rs1057516819
scholar	rs1057516819
google	rs1057516819
pharmgkb	rs1057516819
gwascentral	rs1057516819
openSNP	rs1057516819
23andMe	rs1057516819
SNPshot	rs1057516819
SNPdbe	rs1057516819
MSV3d	rs1057516819
GWAS Ctlg	rs1057516819

Max Magnitude

0

ClinVar
Risk	rs1057516819(A;A)
Alt	rs1057516819(A;A)
Reference	Rs1057516819(G;G)
Significance	Probable-Pathogenic
Disease	Segawa syndrome
Variation	info
Gene	TH
CLNDBN	Segawa syndrome, autosomal recessive
Reversed	1
HGVS	NC_000011.9:g.2187231C>T
CLNSRC
CLNACC	RCV000410415.1,