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rs794727986

From SNPedia

Orientationminus
Geno Mag Summary
(ATTTG;ATTTG) 0 common in clinvar
Make rs794727986(-;-)
Make rs794727986(-;ATTTG)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position152293990
GeneSYNE1
is asnp
is mentioned by
dbSNPrs794727986
ebirs794727986
HLIrs794727986
Exacrs794727986
Varsomers794727986
Maprs794727986
PheGenIrs794727986
hapmaprs794727986
1000 genomesrs794727986
hgdprs794727986
ensemblrs794727986
gopubmedrs794727986
geneviewrs794727986
scholarrs794727986
googlers794727986
pharmgkbrs794727986
gwascentralrs794727986
openSNPrs794727986
23andMers794727986
23andMe allrs794727986
SNP Nexus

SNPshotrs794727986
SNPdbers794727986
MSV3drs794727986
GWAS Ctlgrs794727986
Max Magnitude0
ClinVar
Risk rs794727986(;)
Alt rs794727986(;)
Reference rs794727986(ATTTG;ATTTG)
Significance Pathogenic
Disease Spinocerebellar ataxia
Variation info
Gene SYNE1
CLNDBN Spinocerebellar ataxia, autosomal recessive 8
Reversed 1
HGVS NC_000006.11:g.152615125_152615129delCAAAT
CLNSRC
CLNACC RCV000180749.1,