rs771351747

Orientation

plus

Stabilized

plus

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

Make rs771351747(C;C)

Make rs771351747(C;T)

Reference

GRCh38.p7 38.3/149

Chromosome

11

Position

2164327

Gene

TH

is a	snp
is	mentioned by
dbSNP	rs771351747
dbSNP (classic)	rs771351747
ClinGen	rs771351747
ebi	rs771351747
HLI	rs771351747
Exac	rs771351747
Gnomad	rs771351747
Varsome	rs771351747
LitVar	rs771351747
Map	rs771351747
PheGenI	rs771351747
Biobank	rs771351747
1000 genomes	rs771351747
hgdp	rs771351747
ensembl	rs771351747
geneview	rs771351747
scholar	rs771351747
google	rs771351747
pharmgkb	rs771351747
gwascentral	rs771351747
openSNP	rs771351747
23andMe	rs771351747
SNPshot	rs771351747
SNPdbe	rs771351747
MSV3d	rs771351747
GWAS Ctlg	rs771351747

Max Magnitude

0

ClinVar
Risk	rs771351747(C;C)
Alt	rs771351747(C;C)
Reference	Rs771351747(T;T)
Significance	Probable-Pathogenic
Disease	Segawa syndrome
Variation	info
Gene	TH
CLNDBN	Segawa syndrome, autosomal recessive
Reversed	0
HGVS	NC_000011.9:g.2185557T>C
CLNSRC	Illumina
CLNACC	RCV000364341.1,