rs750781063

Orientation

plus

Stabilized

plus

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

Make rs750781063(-;-)

Make rs750781063(-;C)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

235436568

Gene

TBCE

is a	snp
is	mentioned by
dbSNP	rs750781063
dbSNP (classic)	rs750781063
ClinGen	rs750781063
ebi	rs750781063
HLI	rs750781063
Exac	rs750781063
Gnomad	rs750781063
Varsome	rs750781063
LitVar	rs750781063
Map	rs750781063
PheGenI	rs750781063
Biobank	rs750781063
1000 genomes	rs750781063
hgdp	rs750781063
ensembl	rs750781063
geneview	rs750781063
scholar	rs750781063
google	rs750781063
pharmgkb	rs750781063
gwascentral	rs750781063
openSNP	rs750781063
23andMe	rs750781063
SNPshot	rs750781063
SNPdbe	rs750781063
MSV3d	rs750781063
GWAS Ctlg	rs750781063

Max Magnitude

0

ClinVar
Risk	rs750781063(-;-)
Alt	rs750781063(-;-)
Reference	Rs750781063(C;C)
Significance	Pathogenic
Disease	Encephalopathy
Variation	info
Gene	TBCE
CLNDBN	Encephalopathy, progressive, with amyotrophy and optic atrophy
Reversed	0
HGVS	NC_000001.10:g.235599883delC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000412635.1,