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rs587784478

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587784478(A;C)
Make rs587784478(C;C)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position75516561
GeneCASKIN2, TSEN54
is asnp
is mentioned by
dbSNPrs587784478
ebirs587784478
HLIrs587784478
Exacrs587784478
Varsomers587784478
Maprs587784478
PheGenIrs587784478
hapmaprs587784478
1000 genomesrs587784478
hgdprs587784478
ensemblrs587784478
gopubmedrs587784478
geneviewrs587784478
scholarrs587784478
googlers587784478
pharmgkbrs587784478
gwascentralrs587784478
openSNPrs587784478
23andMers587784478
23andMe allrs587784478
SNP Nexus

SNPshotrs587784478
SNPdbers587784478
MSV3drs587784478
GWAS Ctlgrs587784478
Max Magnitude0
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,