rs28934581

Orientation

minus

Stabilized

minus

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

Make rs28934581(A;C)

Make rs28934581(C;C)

Reference

GRCh38 38.1/141

Chromosome

11

Position

2166995

Gene

TH

is a	snp
is	mentioned by
dbSNP	rs28934581
dbSNP (classic)	rs28934581
ClinGen	rs28934581
ebi	rs28934581
HLI	rs28934581
Exac	rs28934581
Gnomad	rs28934581
Varsome	rs28934581
LitVar	rs28934581
Map	rs28934581
PheGenI	rs28934581
Biobank	rs28934581
1000 genomes	rs28934581
hgdp	rs28934581
ensembl	rs28934581
geneview	rs28934581
scholar	rs28934581
google	rs28934581
pharmgkb	rs28934581
gwascentral	rs28934581
openSNP	rs28934581
23andMe	rs28934581
SNPshot	rs28934581
SNPdbe	rs28934581
MSV3d	rs28934581
GWAS Ctlg	rs28934581

Max Magnitude

0

OMIM	191290
Desc	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE
Variant	0006
Related	also

ClinVar
Risk	rs28934581(C;C)
Alt	rs28934581(C;C)
Reference	Rs28934581(A;A)
Significance	Pathogenic
Disease	Segawa syndrome
Variation	info
Gene	TH
CLNDBN	Segawa syndrome, autosomal recessive
Reversed	1
HGVS	NC_000011.9:g.2188225T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013122.25,