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rs375098002

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs375098002(A;A)
Make rs375098002(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome18
Position12351335
GeneAFG3L2
is asnp
is mentioned by
dbSNPrs375098002
dbSNP (classic)rs375098002
ClinGenrs375098002
ebirs375098002
HLIrs375098002
Exacrs375098002
Gnomadrs375098002
Varsomers375098002
LitVarrs375098002
Maprs375098002
PheGenIrs375098002
Biobankrs375098002
1000 genomesrs375098002
hgdprs375098002
ensemblrs375098002
geneviewrs375098002
scholarrs375098002
googlers375098002
pharmgkbrs375098002
gwascentralrs375098002
openSNPrs375098002
23andMers375098002
SNPshotrs375098002
SNPdbers375098002
MSV3drs375098002
GWAS Ctlgrs375098002
Max Magnitude0
ClinVar
Risk rs375098002(A;A)
Alt rs375098002(A;A)
Reference Rs375098002(G;G)
Significance Probable-Pathogenic
Disease Spinocerebellar Ataxia
Variation info
Gene AFG3L2
CLNDBN Spinocerebellar Ataxia, Dominant
Reversed 0
HGVS NC_000018.9:g.12351334G>A
CLNSRC
CLNACC RCV000289354.1,