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rs780451185

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs780451185(A;A)
Make rs780451185(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position152236240
GeneSYNE1
is asnp
is mentioned by
dbSNPrs780451185
dbSNP (classic)rs780451185
ClinGenrs780451185
ebirs780451185
HLIrs780451185
Exacrs780451185
Gnomadrs780451185
Varsomers780451185
LitVarrs780451185
Maprs780451185
PheGenIrs780451185
Biobankrs780451185
1000 genomesrs780451185
hgdprs780451185
ensemblrs780451185
geneviewrs780451185
scholarrs780451185
googlers780451185
pharmgkbrs780451185
gwascentralrs780451185
openSNPrs780451185
23andMers780451185
SNPshotrs780451185
SNPdbers780451185
MSV3drs780451185
GWAS Ctlgrs780451185
Max Magnitude0
ClinVar
Risk rs780451185(A;A)
Alt rs780451185(A;A)
Reference Rs780451185(G;G)
Significance Probable-Pathogenic
Disease Spinocerebellar ataxia
Variation info
Gene SYNE1
CLNDBN Spinocerebellar ataxia, autosomal recessive 8
Reversed 0
HGVS NC_000006.11:g.152557375G>A
CLNSRC
CLNACC RCV000200158.1,