rs587776767

Orientation

plus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(T;T)	0	common in clinvar

Make rs587776767(A;T)

Reference

GRCh38 38.1/142

Chromosome

11

Position

2165787

Gene

TH

is a	snp
is	mentioned by
dbSNP	rs587776767
dbSNP (classic)	rs587776767
ClinGen	rs587776767
ebi	rs587776767
HLI	rs587776767
Exac	rs587776767
Gnomad	rs587776767
Varsome	rs587776767
LitVar	rs587776767
Map	rs587776767
PheGenI	rs587776767
Biobank	rs587776767
1000 genomes	rs587776767
hgdp	rs587776767
ensembl	rs587776767
geneview	rs587776767
scholar	rs587776767
google	rs587776767
pharmgkb	rs587776767
gwascentral	rs587776767
openSNP	rs587776767
23andMe	rs587776767
SNPshot	rs587776767
SNPdbe	rs587776767
MSV3d	rs587776767
GWAS Ctlg	rs587776767

Max Magnitude

0

ClinVar
Risk	Rs587776767(A;A)
Alt	Rs587776767(A;A)
Reference	Rs587776767(T;T)
Significance	Pathogenic
Disease	Segawa syndrome
Variation	info
Gene	TH
CLNDBN	Segawa syndrome, autosomal recessive
Reversed	1
HGVS	NC_000011.9:g.2187017A>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000013124.25,