rs786204540

Orientation

minus

Stabilized

minus

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

Make rs786204540(C;T)

Make rs786204540(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

11

Position

2165284

Gene

TH

is a	snp
is	mentioned by
dbSNP	rs786204540
dbSNP (classic)	rs786204540
ClinGen	rs786204540
ebi	rs786204540
HLI	rs786204540
Exac	rs786204540
Gnomad	rs786204540
Varsome	rs786204540
LitVar	rs786204540
Map	rs786204540
PheGenI	rs786204540
Biobank	rs786204540
1000 genomes	rs786204540
hgdp	rs786204540
ensembl	rs786204540
geneview	rs786204540
scholar	rs786204540
google	rs786204540
pharmgkb	rs786204540
gwascentral	rs786204540
openSNP	rs786204540
23andMe	rs786204540
SNPshot	rs786204540
SNPdbe	rs786204540
MSV3d	rs786204540
GWAS Ctlg	rs786204540

Max Magnitude

0

ClinVar
Risk	rs786204540(T;T)
Alt	rs786204540(T;T)
Reference	Rs786204540(C;C)
Significance	Probable-Pathogenic
Disease	Segawa syndrome
Variation	info
Gene	TH
CLNDBN	Segawa syndrome, autosomal recessive
Reversed	1
HGVS	NC_000011.9:g.2186514G>A
CLNSRC
CLNACC	RCV000169247.1,