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rs1057517383

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517383(-;-)
Make rs1057517383(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position23333786
GeneSACS
is asnp
is mentioned by
dbSNPrs1057517383
dbSNP (old)rs1057517383
ClinGenrs1057517383
ebirs1057517383
HLIrs1057517383
Exacrs1057517383
Gnomadrs1057517383
Varsomers1057517383
Maprs1057517383
PheGenIrs1057517383
Biobankrs1057517383
1000 genomesrs1057517383
hgdprs1057517383
ensemblrs1057517383
gopubmedrs1057517383
geneviewrs1057517383
scholarrs1057517383
googlers1057517383
pharmgkbrs1057517383
gwascentralrs1057517383
openSNPrs1057517383
23andMers1057517383
23andMe allrs1057517383
SNPshotrs1057517383
SNPdbers1057517383
MSV3drs1057517383
GWAS Ctlgrs1057517383
Max Magnitude0
ClinVar
Risk rs1057517383(-;-)
Alt rs1057517383(-;-)
Reference Rs1057517383(G;G)
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.23907925delC
CLNSRC
CLNACC RCV000410438.1,