rs121917764

Orientation

minus

Stabilized

minus

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

Make rs121917764(C;T)

Make rs121917764(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

2166762

Gene

TH

is a	snp
is	mentioned by
dbSNP	rs121917764
dbSNP (classic)	rs121917764
ClinGen	rs121917764
ebi	rs121917764
HLI	rs121917764
Exac	rs121917764
Gnomad	rs121917764
Varsome	rs121917764
LitVar	rs121917764
Map	rs121917764
PheGenI	rs121917764
Biobank	rs121917764
1000 genomes	rs121917764
hgdp	rs121917764
ensembl	rs121917764
geneview	rs121917764
scholar	rs121917764
google	rs121917764
pharmgkb	rs121917764
gwascentral	rs121917764
openSNP	rs121917764
23andMe	rs121917764
SNPshot	rs121917764
SNPdbe	rs121917764
MSV3d	rs121917764
GWAS Ctlg	rs121917764

Max Magnitude

0

OMIM	191290
Desc
Variant	0007
Related	also

ClinVar
Risk	rs121917764(T;T)
Alt	rs121917764(T;T)
Reference	Rs121917764(C;C)
Significance	Pathogenic
Disease	Segawa syndrome
Variation	info
Gene	TH
CLNDBN	Segawa syndrome, autosomal recessive
Reversed	1
HGVS	NC_000011.9:g.2187992G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013123.17,