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rs1057516365

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(TT;TT) 0 common in clinvar
Make rs1057516365(-;-)
Make rs1057516365(-;TT)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position23355383
GeneSACS
is asnp
is mentioned by
dbSNPrs1057516365
dbSNP (old)rs1057516365
ClinGenrs1057516365
ebirs1057516365
HLIrs1057516365
Exacrs1057516365
Gnomadrs1057516365
Varsomers1057516365
Maprs1057516365
PheGenIrs1057516365
Biobankrs1057516365
1000 genomesrs1057516365
hgdprs1057516365
ensemblrs1057516365
gopubmedrs1057516365
geneviewrs1057516365
scholarrs1057516365
googlers1057516365
pharmgkbrs1057516365
gwascentralrs1057516365
openSNPrs1057516365
23andMers1057516365
23andMe allrs1057516365
SNPshotrs1057516365
SNPdbers1057516365
MSV3drs1057516365
GWAS Ctlgrs1057516365
Max Magnitude0
ClinVar
Risk rs1057516365(-;-)
Alt rs1057516365(-;-)
Reference Rs1057516365(TT;TT)
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.23929522_23929523delAA
CLNSRC
CLNACC RCV000411818.1,