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rs1057517014

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057517014(C;T)
Make rs1057517014(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position23336015
GeneSACS
is asnp
is mentioned by
dbSNPrs1057517014
dbSNP (classic)rs1057517014
ClinGenrs1057517014
ebirs1057517014
HLIrs1057517014
Exacrs1057517014
Gnomadrs1057517014
Varsomers1057517014
LitVarrs1057517014
Maprs1057517014
PheGenIrs1057517014
Biobankrs1057517014
1000 genomesrs1057517014
hgdprs1057517014
ensemblrs1057517014
geneviewrs1057517014
scholarrs1057517014
googlers1057517014
pharmgkbrs1057517014
gwascentralrs1057517014
openSNPrs1057517014
23andMers1057517014
23andMe allrs1057517014
SNPshotrs1057517014
SNPdbers1057517014
MSV3drs1057517014
GWAS Ctlgrs1057517014
Max Magnitude0
ClinVar
Risk rs1057517014(T;T)
Alt rs1057517014(T;T)
Reference Rs1057517014(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.23910154G>A
CLNSRC
CLNACC RCV000408978.1,