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rs1057517172

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057517172(A;A)
Make rs1057517172(A;C)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position23338407
GeneSACS
is asnp
is mentioned by
dbSNPrs1057517172
dbSNP (old)rs1057517172
ClinGenrs1057517172
ebirs1057517172
HLIrs1057517172
Exacrs1057517172
Gnomadrs1057517172
Varsomers1057517172
Maprs1057517172
PheGenIrs1057517172
Biobankrs1057517172
1000 genomesrs1057517172
hgdprs1057517172
ensemblrs1057517172
gopubmedrs1057517172
geneviewrs1057517172
scholarrs1057517172
googlers1057517172
pharmgkbrs1057517172
gwascentralrs1057517172
openSNPrs1057517172
23andMers1057517172
23andMe allrs1057517172
SNPshotrs1057517172
SNPdbers1057517172
MSV3drs1057517172
GWAS Ctlgrs1057517172
Max Magnitude0
ClinVar
Risk rs1057517172(A;A)
Alt rs1057517172(A;A)
Reference Rs1057517172(C;C)
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.23912546G>T
CLNSRC
CLNACC RCV000409004.1,