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rs775059063

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AT;AT) 0 common in clinvar
Make rs775059063(-;-)
Make rs775059063(-;AT)
ReferenceGRCh38.p2 38.2/144
Chromosome13
Position23341436
GeneSACS
is asnp
is mentioned by
dbSNPrs775059063
dbSNP (classic)rs775059063
ClinGenrs775059063
ebirs775059063
HLIrs775059063
Exacrs775059063
Gnomadrs775059063
Varsomers775059063
LitVarrs775059063
Maprs775059063
PheGenIrs775059063
Biobankrs775059063
1000 genomesrs775059063
hgdprs775059063
ensemblrs775059063
geneviewrs775059063
scholarrs775059063
googlers775059063
pharmgkbrs775059063
gwascentralrs775059063
openSNPrs775059063
23andMers775059063
SNPshotrs775059063
SNPdbers775059063
MSV3drs775059063
GWAS Ctlgrs775059063
Max Magnitude0
ClinVar
Risk rs775059063(-;-)
Alt rs775059063(-;-)
Reference Rs775059063(AT;AT)
Significance Probable-Pathogenic
Disease Spastic ataxia Charlevoix-Saguenay type
Variation info
Gene SACS
CLNDBN Spastic ataxia Charlevoix-Saguenay type
Reversed 0
HGVS NC_000013.10:g.23915575_23915576delAT
CLNSRC Counsyl
CLNACC RCV000169208.1,