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rs1057516853

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057516853(A;A)
Make rs1057516853(A;T)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position23335009
GeneSACS
is asnp
is mentioned by
dbSNPrs1057516853
dbSNP (old)rs1057516853
ClinGenrs1057516853
ebirs1057516853
HLIrs1057516853
Exacrs1057516853
Gnomadrs1057516853
Varsomers1057516853
Maprs1057516853
PheGenIrs1057516853
Biobankrs1057516853
1000 genomesrs1057516853
hgdprs1057516853
ensemblrs1057516853
gopubmedrs1057516853
geneviewrs1057516853
scholarrs1057516853
googlers1057516853
pharmgkbrs1057516853
gwascentralrs1057516853
openSNPrs1057516853
23andMers1057516853
23andMe allrs1057516853
SNP Nexus

SNPshotrs1057516853
SNPdbers1057516853
MSV3drs1057516853
GWAS Ctlgrs1057516853
Max Magnitude0
ClinVar
Risk rs1057516853(A;A)
Alt rs1057516853(A;A)
Reference Rs1057516853(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.23909148A>T
CLNSRC
CLNACC RCV000411855.1,