rs121917765

Orientation

minus

Stabilized

minus

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

Make rs121917765(G;T)

Make rs121917765(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

2166544

Gene

TH

is a	snp
is	mentioned by
dbSNP	rs121917765
dbSNP (classic)	rs121917765
ClinGen	rs121917765
ebi	rs121917765
HLI	rs121917765
Exac	rs121917765
Gnomad	rs121917765
Varsome	rs121917765
LitVar	rs121917765
Map	rs121917765
PheGenI	rs121917765
Biobank	rs121917765
1000 genomes	rs121917765
hgdp	rs121917765
ensembl	rs121917765
geneview	rs121917765
scholar	rs121917765
google	rs121917765
pharmgkb	rs121917765
gwascentral	rs121917765
openSNP	rs121917765
23andMe	rs121917765
SNPshot	rs121917765
SNPdbe	rs121917765
MSV3d	rs121917765
GWAS Ctlg	rs121917765

Max Magnitude

0

OMIM	191290
Desc
Variant	0011
Related	also

ClinVar
Risk	rs121917765(T;T)
Alt	rs121917765(T;T)
Reference	Rs121917765(G;G)
Significance	Pathogenic
Disease	Segawa syndrome
Variation	info
Gene	TH
CLNDBN	Segawa syndrome, autosomal recessive
Reversed	1
HGVS	NC_000011.9:g.2187774C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013127.17,