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rs1057517437

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057517437(A;A)
Make rs1057517437(A;C)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position23341546
GeneSACS
is asnp
is mentioned by
dbSNPrs1057517437
dbSNP (classic)rs1057517437
ClinGenrs1057517437
ebirs1057517437
HLIrs1057517437
Exacrs1057517437
Gnomadrs1057517437
Varsomers1057517437
LitVarrs1057517437
Maprs1057517437
PheGenIrs1057517437
Biobankrs1057517437
1000 genomesrs1057517437
hgdprs1057517437
ensemblrs1057517437
geneviewrs1057517437
scholarrs1057517437
googlers1057517437
pharmgkbrs1057517437
gwascentralrs1057517437
openSNPrs1057517437
23andMers1057517437
23andMe allrs1057517437
SNPshotrs1057517437
SNPdbers1057517437
MSV3drs1057517437
GWAS Ctlgrs1057517437
Max Magnitude0
ClinVar
Risk rs1057517437(A;A)
Alt rs1057517437(A;A)
Reference Rs1057517437(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.23915685G>T
CLNSRC
CLNACC RCV000409346.1,