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rs1057516820

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057516820(-;G)
Make rs1057516820(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position23358470
GeneSACS
is asnp
is mentioned by
dbSNPrs1057516820
dbSNP (old)rs1057516820
ClinGenrs1057516820
ebirs1057516820
HLIrs1057516820
Exacrs1057516820
Gnomadrs1057516820
Varsomers1057516820
Maprs1057516820
PheGenIrs1057516820
Biobankrs1057516820
1000 genomesrs1057516820
hgdprs1057516820
ensemblrs1057516820
gopubmedrs1057516820
geneviewrs1057516820
scholarrs1057516820
googlers1057516820
pharmgkbrs1057516820
gwascentralrs1057516820
openSNPrs1057516820
23andMers1057516820
23andMe allrs1057516820
SNPshotrs1057516820
SNPdbers1057516820
MSV3drs1057516820
GWAS Ctlgrs1057516820
Max Magnitude0
ClinVar
Risk rs1057516820(G;G)
Alt rs1057516820(G;G)
Reference Rs1057516820(-;-)
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.23932609_23932610insC
CLNSRC
CLNACC RCV000409711.1,