rs587784478

Orientation

plus

Stabilized

plus

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

Make rs587784478(A;C)

Make rs587784478(C;C)

Reference

GRCh38.p2 38.2/144

Chromosome

17

Position

75516561

Gene	CASKIN2, TSEN54

is a	snp
is	mentioned by
dbSNP	rs587784478
dbSNP (classic)	rs587784478
ClinGen	rs587784478
ebi	rs587784478
HLI	rs587784478
Exac	rs587784478
Gnomad	rs587784478
Varsome	rs587784478
LitVar	rs587784478
Map	rs587784478
PheGenI	rs587784478
Biobank	rs587784478
1000 genomes	rs587784478
hgdp	rs587784478
ensembl	rs587784478
geneview	rs587784478
scholar	rs587784478
google	rs587784478
pharmgkb	rs587784478
gwascentral	rs587784478
openSNP	rs587784478
23andMe	rs587784478
SNPshot	rs587784478
SNPdbe	rs587784478
MSV3d	rs587784478
GWAS Ctlg	rs587784478

Max Magnitude

0

ClinVar
Risk	rs587784478(C;C)
Alt	rs587784478(C;C)
Reference	Rs587784478(A;A)
Significance	Pathogenic
Disease	Olivopontocerebellar hypoplasia
Variation	info
Gene	TSEN54 CASKIN2
CLNDBN	Olivopontocerebellar hypoplasia
Reversed	0
HGVS	NC_000017.10:g.73512642A>C
CLNSRC
CLNACC	RCV000147778.1,