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rs606231163

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;C) 3 carrier of a neurodegenerative disorder (ARSACS) mutation
(C;C) 6 neurodegenerative disorder (ARSACS)
ReferenceGRCh38.p2 38.2/144
Chromosome13
Position23339842
GeneSACS
is asnp
is mentioned by
dbSNPrs606231163
dbSNP (old)rs606231163
ClinGenrs606231163
ebirs606231163
HLIrs606231163
Exacrs606231163
Gnomadrs606231163
Varsomers606231163
Maprs606231163
PheGenIrs606231163
Biobankrs606231163
1000 genomesrs606231163
hgdprs606231163
ensemblrs606231163
gopubmedrs606231163
geneviewrs606231163
scholarrs606231163
googlers606231163
pharmgkbrs606231163
gwascentralrs606231163
openSNPrs606231163
23andMers606231163
23andMe allrs606231163
SNP Nexus

SNPshotrs606231163
SNPdbers606231163
MSV3drs606231163
GWAS Ctlgrs606231163
Max Magnitude6

c.4033dupC (p.Gln1345Profs)


ClinVar
Risk Rs606231163(C;C)
Alt Rs606231163(C;C)
Reference Rs606231163(-;-)
Significance Pathogenic
Disease Spastic ataxia Charlevoix-Saguenay type
Variation info
Gene SACS
CLNDBN Spastic ataxia Charlevoix-Saguenay type
Reversed 1
HGVS NC_000013.10:g.23913982dupG
CLNSRC OMIM Allelic Variant
CLNACC RCV000005853.5,