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rs1057516580

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(ACTG;ACTG) 0 common in clinvar
Make rs1057516580(-;-)
Make rs1057516580(-;ACTG)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position23338979
GeneSACS
is asnp
is mentioned by
dbSNPrs1057516580
dbSNP (old)rs1057516580
ClinGenrs1057516580
ebirs1057516580
HLIrs1057516580
Exacrs1057516580
Gnomadrs1057516580
Varsomers1057516580
Maprs1057516580
PheGenIrs1057516580
Biobankrs1057516580
1000 genomesrs1057516580
hgdprs1057516580
ensemblrs1057516580
gopubmedrs1057516580
geneviewrs1057516580
scholarrs1057516580
googlers1057516580
pharmgkbrs1057516580
gwascentralrs1057516580
openSNPrs1057516580
23andMers1057516580
23andMe allrs1057516580
SNPshotrs1057516580
SNPdbers1057516580
MSV3drs1057516580
GWAS Ctlgrs1057516580
Max Magnitude0
ClinVar
Risk rs1057516580(-;-)
Alt rs1057516580(-;-)
Reference Rs1057516580(ACTG;ACTG)
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.23913118_23913121delCAGT
CLNSRC
CLNACC RCV000411344.1,