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rs1057517099

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057517099(-;A)
Make rs1057517099(A;A)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position23338091
GeneSACS
is asnp
is mentioned by
dbSNPrs1057517099
dbSNP (classic)rs1057517099
ClinGenrs1057517099
ebirs1057517099
HLIrs1057517099
Exacrs1057517099
Gnomadrs1057517099
Varsomers1057517099
LitVarrs1057517099
Maprs1057517099
PheGenIrs1057517099
Biobankrs1057517099
1000 genomesrs1057517099
hgdprs1057517099
ensemblrs1057517099
geneviewrs1057517099
scholarrs1057517099
googlers1057517099
pharmgkbrs1057517099
gwascentralrs1057517099
openSNPrs1057517099
23andMers1057517099
23andMe allrs1057517099
SNPshotrs1057517099
SNPdbers1057517099
MSV3drs1057517099
GWAS Ctlgrs1057517099
Max Magnitude0
ClinVar
Risk rs1057517099(A;A)
Alt rs1057517099(A;A)
Reference Rs1057517099(-;-)
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.23912231dupT
CLNSRC
CLNACC RCV000409433.1,