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rs587777052

From SNPedia

Orientationplus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587777052(G;T)
Make rs587777052(T;T)
ReferenceGRCh38 38.1/142
Chromosome19
Position3978099
GeneEEF2
is asnp
is mentioned by
dbSNPrs587777052
dbSNP (classic)rs587777052
ClinGenrs587777052
ebirs587777052
HLIrs587777052
Exacrs587777052
Gnomadrs587777052
Varsomers587777052
LitVarrs587777052
Maprs587777052
PheGenIrs587777052
Biobankrs587777052
1000 genomesrs587777052
hgdprs587777052
ensemblrs587777052
geneviewrs587777052
scholarrs587777052
googlers587777052
pharmgkbrs587777052
gwascentralrs587777052
openSNPrs587777052
23andMers587777052
SNPshotrs587777052
SNPdbers587777052
MSV3drs587777052
GWAS Ctlgrs587777052
Max Magnitude0
ClinVar
Risk Rs587777052(G;G) rs587777052(T;T)
Alt Rs587777052(G;G) rs587777052(T;T)
Reference Rs587777052(C;C)
Significance Pathogenic
Disease Spinocerebellar ataxia 26
Variation info
Gene EEF2
CLNDBN Spinocerebellar ataxia 26
Reversed 1
HGVS NC_000019.9:g.3978097G>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000056312.25,