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rs1057517451

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AGTCCCAAAGC;AGTCCCAAAGC) 0 common in clinvar
Make rs1057517451(-;-)
Make rs1057517451(-;AGTCCCAAAGC)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position23336372
GeneSACS
is asnp
is mentioned by
dbSNPrs1057517451
dbSNP (classic)rs1057517451
ClinGenrs1057517451
ebirs1057517451
HLIrs1057517451
Exacrs1057517451
Gnomadrs1057517451
Varsomers1057517451
LitVarrs1057517451
Maprs1057517451
PheGenIrs1057517451
Biobankrs1057517451
1000 genomesrs1057517451
hgdprs1057517451
ensemblrs1057517451
geneviewrs1057517451
scholarrs1057517451
googlers1057517451
pharmgkbrs1057517451
gwascentralrs1057517451
openSNPrs1057517451
23andMers1057517451
23andMe allrs1057517451
SNPshotrs1057517451
SNPdbers1057517451
MSV3drs1057517451
GWAS Ctlgrs1057517451
Max Magnitude0
ClinVar
Risk rs1057517451(-;-)
Alt rs1057517451(-;-)
Reference Rs1057517451(AGTCCCAAAGC;AGTCCCAAAGC)
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.23910511_23910521delGCTTTGGGACT
CLNSRC
CLNACC RCV000410317.1,