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rs1057516875

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057516875(-;T)
Make rs1057516875(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position23334498
GeneSACS
is asnp
is mentioned by
dbSNPrs1057516875
dbSNP (old)rs1057516875
ClinGenrs1057516875
ebirs1057516875
HLIrs1057516875
Exacrs1057516875
Gnomadrs1057516875
Varsomers1057516875
Maprs1057516875
PheGenIrs1057516875
Biobankrs1057516875
1000 genomesrs1057516875
hgdprs1057516875
ensemblrs1057516875
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googlers1057516875
pharmgkbrs1057516875
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openSNPrs1057516875
23andMers1057516875
23andMe allrs1057516875
SNP Nexus

SNPshotrs1057516875
SNPdbers1057516875
MSV3drs1057516875
GWAS Ctlgrs1057516875
Max Magnitude0
ClinVar
Risk rs1057516875(T;T)
Alt rs1057516875(T;T)
Reference Rs1057516875(-;-)
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.23908638dupA
CLNSRC
CLNACC RCV000410587.1,