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rs1057516767

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057516767(-;-)
Make rs1057516767(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position23340810
GeneSACS
is asnp
is mentioned by
dbSNPrs1057516767
dbSNP (old)rs1057516767
ClinGenrs1057516767
ebirs1057516767
HLIrs1057516767
Exacrs1057516767
Gnomadrs1057516767
Varsomers1057516767
Maprs1057516767
PheGenIrs1057516767
Biobankrs1057516767
1000 genomesrs1057516767
hgdprs1057516767
ensemblrs1057516767
gopubmedrs1057516767
geneviewrs1057516767
scholarrs1057516767
googlers1057516767
pharmgkbrs1057516767
gwascentralrs1057516767
openSNPrs1057516767
23andMers1057516767
23andMe allrs1057516767
SNP Nexus

SNPshotrs1057516767
SNPdbers1057516767
MSV3drs1057516767
GWAS Ctlgrs1057516767
Max Magnitude0
ClinVar
Risk rs1057516767(-;-)
Alt rs1057516767(-;-)
Reference Rs1057516767(T;T)
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.23914949delA
CLNSRC
CLNACC RCV000412355.1,