rs587784477

Orientation

plus

Stabilized

plus

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

Make rs587784477(C;C)

Make rs587784477(C;T)

Reference

GRCh38.p2 38.2/144

Chromosome

17

Position

75524342

Gene	LLGL2, LOC107985023, TSEN54

is a	snp
is	mentioned by
dbSNP	rs587784477
dbSNP (classic)	rs587784477
ClinGen	rs587784477
ebi	rs587784477
HLI	rs587784477
Exac	rs587784477
Gnomad	rs587784477
Varsome	rs587784477
LitVar	rs587784477
Map	rs587784477
PheGenI	rs587784477
Biobank	rs587784477
1000 genomes	rs587784477
hgdp	rs587784477
ensembl	rs587784477
geneview	rs587784477
scholar	rs587784477
google	rs587784477
pharmgkb	rs587784477
gwascentral	rs587784477
openSNP	rs587784477
23andMe	rs587784477
SNPshot	rs587784477
SNPdbe	rs587784477
MSV3d	rs587784477
GWAS Ctlg	rs587784477

Max Magnitude

0

ClinVar
Risk	rs587784477(C;C)
Alt	rs587784477(C;C)
Reference	Rs587784477(T;T)
Significance	Probable-Pathogenic
Disease	Olivopontocerebellar hypoplasia
Variation	info
Gene	TSEN54 LLGL2
CLNDBN	Olivopontocerebellar hypoplasia
Reversed	0
HGVS	NC_000017.10:g.73520423T>C
CLNSRC
CLNACC	RCV000147776.1,