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

rs1057517349

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(TA;TA) 0 common in clinvar
Make rs1057517349(-;-)
Make rs1057517349(-;TA)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position23334485
GeneSACS
is asnp
is mentioned by
dbSNPrs1057517349
dbSNP (old)rs1057517349
ClinGenrs1057517349
ebirs1057517349
HLIrs1057517349
Exacrs1057517349
Gnomadrs1057517349
Varsomers1057517349
Maprs1057517349
PheGenIrs1057517349
Biobankrs1057517349
1000 genomesrs1057517349
hgdprs1057517349
ensemblrs1057517349
gopubmedrs1057517349
geneviewrs1057517349
scholarrs1057517349
googlers1057517349
pharmgkbrs1057517349
gwascentralrs1057517349
openSNPrs1057517349
23andMers1057517349
23andMe allrs1057517349
SNP Nexus

SNPshotrs1057517349
SNPdbers1057517349
MSV3drs1057517349
GWAS Ctlgrs1057517349
Max Magnitude0
ClinVar
Risk rs1057517349(-;-)
Alt rs1057517349(-;-)
Reference Rs1057517349(TA;TA)
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.23908624_23908625delTA
CLNSRC
CLNACC RCV000410981.1,