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rs1057516837

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516837(-;-)
Make rs1057516837(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position23375261
GeneSACS
is asnp
is mentioned by
dbSNPrs1057516837
dbSNP (old)rs1057516837
ClinGenrs1057516837
ebirs1057516837
HLIrs1057516837
Exacrs1057516837
Gnomadrs1057516837
Varsomers1057516837
Maprs1057516837
PheGenIrs1057516837
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1000 genomesrs1057516837
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23andMe allrs1057516837
SNP Nexus

SNPshotrs1057516837
SNPdbers1057516837
MSV3drs1057516837
GWAS Ctlgrs1057516837
Max Magnitude0
ClinVar
Risk rs1057516837(-;-)
Alt rs1057516837(-;-)
Reference Rs1057516837(C;C)
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.23949400delG
CLNSRC
CLNACC RCV000409439.1,