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rs587784475

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587784475(G;T)
Make rs587784475(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position75522219
GeneTSEN54
is asnp
is mentioned by
dbSNPrs587784475
ebirs587784475
HLIrs587784475
Exacrs587784475
Varsomers587784475
Maprs587784475
PheGenIrs587784475
hapmaprs587784475
1000 genomesrs587784475
hgdprs587784475
ensemblrs587784475
gopubmedrs587784475
geneviewrs587784475
scholarrs587784475
googlers587784475
pharmgkbrs587784475
gwascentralrs587784475
openSNPrs587784475
23andMers587784475
23andMe allrs587784475
SNP Nexus

SNPshotrs587784475
SNPdbers587784475
MSV3drs587784475
GWAS Ctlgrs587784475
Max Magnitude0
ClinVar
Risk rs587784475(T;T)
Alt 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,