rs121917763

Orientation

minus

Stabilized

minus

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

Make rs121917763(C;C)

Make rs121917763(C;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

2167896

Gene

TH

is a	snp
is	mentioned by
dbSNP	rs121917763
dbSNP (classic)	rs121917763
ClinGen	rs121917763
ebi	rs121917763
HLI	rs121917763
Exac	rs121917763
Gnomad	rs121917763
Varsome	rs121917763
LitVar	rs121917763
Map	rs121917763
PheGenI	rs121917763
Biobank	rs121917763
1000 genomes	rs121917763
hgdp	rs121917763
ensembl	rs121917763
geneview	rs121917763
scholar	rs121917763
google	rs121917763
pharmgkb	rs121917763
gwascentral	rs121917763
openSNP	rs121917763
23andMe	rs121917763
SNPshot	rs121917763
SNPdbe	rs121917763
MSV3d	rs121917763
GWAS Ctlg	rs121917763

Max Magnitude

0

OMIM	191290
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121917763(C;C)
Alt	rs121917763(C;C)
Reference	Rs121917763(T;T)
Significance	Other
Disease	Segawa syndrome
Variation	info
Gene	TH
CLNDBN	Segawa syndrome, autosomal recessive
Reversed	1
HGVS	NC_000011.9:g.2189126A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013118.25,