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rs765992922

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs765992922(-;-)
Make rs765992922(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position23335003
GeneSACS
is asnp
is mentioned by
dbSNPrs765992922
dbSNP (classic)rs765992922
ClinGenrs765992922
ebirs765992922
HLIrs765992922
Exacrs765992922
Gnomadrs765992922
Varsomers765992922
LitVarrs765992922
Maprs765992922
PheGenIrs765992922
Biobankrs765992922
1000 genomesrs765992922
hgdprs765992922
ensemblrs765992922
geneviewrs765992922
scholarrs765992922
googlers765992922
pharmgkbrs765992922
gwascentralrs765992922
openSNPrs765992922
23andMers765992922
SNPshotrs765992922
SNPdbers765992922
MSV3drs765992922
GWAS Ctlgrs765992922
Max Magnitude0
ClinVar
Risk rs765992922(-;-)
Alt rs765992922(-;-)
Reference Rs765992922(T;T)
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.23909142delT
CLNSRC
CLNACC RCV000409008.1,