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rs786204628

From SNPedia

Orientationminus
Geno Mag Summary
(AGAG;AGAG) 0 common in clinvar
Make rs786204628(-;-)
Make rs786204628(-;AGAG)
ReferenceGRCh38.p2 38.2/146
Chromosome13
Position23331022
GeneSACS
is asnp
is mentioned by
dbSNPrs786204628
ebirs786204628
HLIrs786204628
Exacrs786204628
Varsomers786204628
Maprs786204628
PheGenIrs786204628
hapmaprs786204628
1000 genomesrs786204628
hgdprs786204628
ensemblrs786204628
gopubmedrs786204628
geneviewrs786204628
scholarrs786204628
googlers786204628
pharmgkbrs786204628
gwascentralrs786204628
openSNPrs786204628
23andMers786204628
23andMe allrs786204628
SNP Nexus

SNPshotrs786204628
SNPdbers786204628
MSV3drs786204628
GWAS Ctlgrs786204628
Max Magnitude0
ClinVar
Risk rs786204628(;)
Alt rs786204628(;)
Reference rs786204628(AGAG;AGAG)
Significance Probable-Pathogenic
Disease Spastic ataxia Charlevoix-Saguenay type
Variation info
Gene SACS
CLNDBN Spastic ataxia Charlevoix-Saguenay type
Reversed 1
HGVS NC_000013.10:g.23905161_23905164delCTCT
CLNSRC Counsyl
CLNACC RCV000169401.1,