rs780472451

Orientation

plus

Stabilized

plus

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

Make rs780472451(A;A)

Make rs780472451(A;T)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

235427143

Gene

TBCE

is a	snp
is	mentioned by
dbSNP	rs780472451
dbSNP (classic)	rs780472451
ClinGen	rs780472451
ebi	rs780472451
HLI	rs780472451
Exac	rs780472451
Gnomad	rs780472451
Varsome	rs780472451
LitVar	rs780472451
Map	rs780472451
PheGenI	rs780472451
Biobank	rs780472451
1000 genomes	rs780472451
hgdp	rs780472451
ensembl	rs780472451
geneview	rs780472451
scholar	rs780472451
google	rs780472451
pharmgkb	rs780472451
gwascentral	rs780472451
openSNP	rs780472451
23andMe	rs780472451
SNPshot	rs780472451
SNPdbe	rs780472451
MSV3d	rs780472451
GWAS Ctlg	rs780472451

Max Magnitude

0

ClinVar
Risk	rs780472451(A;A)
Alt	rs780472451(A;A)
Reference	Rs780472451(T;T)
Significance	Pathogenic
Disease	Encephalopathy
Variation	info
Gene	TBCE
CLNDBN	Encephalopathy, progressive, with amyotrophy and optic atrophy
Reversed	0
HGVS	NC_000001.10:g.235590458T>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000412509.1,