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rs1057516406

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057516406(-;TT)
Make rs1057516406(TT;TT)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position23355334
GeneSACS
is asnp
is mentioned by
dbSNPrs1057516406
dbSNP (old)rs1057516406
ClinGenrs1057516406
ebirs1057516406
HLIrs1057516406
Exacrs1057516406
Gnomadrs1057516406
Varsomers1057516406
LitVarrs1057516406
Maprs1057516406
PheGenIrs1057516406
Biobankrs1057516406
1000 genomesrs1057516406
hgdprs1057516406
ensemblrs1057516406
gopubmedrs1057516406
geneviewrs1057516406
scholarrs1057516406
googlers1057516406
pharmgkbrs1057516406
gwascentralrs1057516406
openSNPrs1057516406
23andMers1057516406
23andMe allrs1057516406
SNPshotrs1057516406
SNPdbers1057516406
MSV3drs1057516406
GWAS Ctlgrs1057516406
Max Magnitude0
ClinVar
Risk rs1057516406(TT;TT)
Alt rs1057516406(TT;TT)
Reference Rs1057516406(-;-)
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.23929474_23929475dupAA
CLNSRC
CLNACC RCV000409220.1,