Have questions? Visit https://www.reddit.com/r/SNPedia

rs1057517242

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057517242(-;-)
Make rs1057517242(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position23355527
GeneSACS
is asnp
is mentioned by
dbSNPrs1057517242
dbSNP (old)rs1057517242
ClinGenrs1057517242
ebirs1057517242
HLIrs1057517242
Exacrs1057517242
Gnomadrs1057517242
Varsomers1057517242
Maprs1057517242
PheGenIrs1057517242
Biobankrs1057517242
1000 genomesrs1057517242
hgdprs1057517242
ensemblrs1057517242
gopubmedrs1057517242
geneviewrs1057517242
scholarrs1057517242
googlers1057517242
pharmgkbrs1057517242
gwascentralrs1057517242
openSNPrs1057517242
23andMers1057517242
23andMe allrs1057517242
SNP Nexus

SNPshotrs1057517242
SNPdbers1057517242
MSV3drs1057517242
GWAS Ctlgrs1057517242
Max Magnitude0
ClinVar
Risk rs1057517242(-;-)
Alt rs1057517242(-;-)
Reference Rs1057517242(A;A)
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.23929666delT
CLNSRC
CLNACC RCV000410403.1,