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rs1057517212

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057517212(-;T)
Make rs1057517212(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position23335263
GeneSACS
is asnp
is mentioned by
dbSNPrs1057517212
dbSNP (old)rs1057517212
ClinGenrs1057517212
ebirs1057517212
HLIrs1057517212
Exacrs1057517212
Gnomadrs1057517212
Varsomers1057517212
Maprs1057517212
PheGenIrs1057517212
Biobankrs1057517212
1000 genomesrs1057517212
hgdprs1057517212
ensemblrs1057517212
gopubmedrs1057517212
geneviewrs1057517212
scholarrs1057517212
googlers1057517212
pharmgkbrs1057517212
gwascentralrs1057517212
openSNPrs1057517212
23andMers1057517212
23andMe allrs1057517212
SNPshotrs1057517212
SNPdbers1057517212
MSV3drs1057517212
GWAS Ctlgrs1057517212
Max Magnitude0
ClinVar
Risk rs1057517212(T;T)
Alt rs1057517212(T;T)
Reference Rs1057517212(-;-)
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.23909403dupA
CLNSRC
CLNACC RCV000411570.1,