rs587784475

Orientation

plus

Stabilized

plus

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

Make rs587784475(G;T)

Make rs587784475(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

17

Position

75522219

Gene

TSEN54

is a	snp
is	mentioned by
dbSNP	rs587784475
dbSNP (classic)	rs587784475
ClinGen	rs587784475
ebi	rs587784475
HLI	rs587784475
Exac	rs587784475
Gnomad	rs587784475
Varsome	rs587784475
LitVar	rs587784475
Map	rs587784475
PheGenI	rs587784475
Biobank	rs587784475
1000 genomes	rs587784475
hgdp	rs587784475
ensembl	rs587784475
geneview	rs587784475
scholar	rs587784475
google	rs587784475
pharmgkb	rs587784475
gwascentral	rs587784475
openSNP	rs587784475
23andMe	rs587784475
SNPshot	rs587784475
SNPdbe	rs587784475
MSV3d	rs587784475
GWAS Ctlg	rs587784475

Max Magnitude

0

ClinVar
Risk	rs587784475(C;C) rs587784475(T;T)
Alt	rs587784475(C;C) rs587784475(T;T)
Reference	Rs587784475(G;G)
Significance	Pathogenic
Disease	Olivopontocerebellar hypoplasia
Variation	info
Gene	TSEN54
CLNDBN	Olivopontocerebellar hypoplasia
Reversed	0
HGVS	NC_000017.10:g.73518300G>T
CLNSRC
CLNACC	RCV000147769.1,