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rs137853017

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137853017(C;C)
Make rs137853017(C;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position23338040
GeneSACS
is asnp
is mentioned by
dbSNPrs137853017
ebirs137853017
HLIrs137853017
Exacrs137853017
Varsomers137853017
Maprs137853017
PheGenIrs137853017
hapmaprs137853017
1000 genomesrs137853017
hgdprs137853017
ensemblrs137853017
gopubmedrs137853017
geneviewrs137853017
scholarrs137853017
googlers137853017
pharmgkbrs137853017
gwascentralrs137853017
openSNPrs137853017
23andMers137853017
23andMe allrs137853017
SNP Nexus

SNPshotrs137853017
SNPdbers137853017
MSV3drs137853017
GWAS Ctlgrs137853017
Max Magnitude0
OMIM604490
Desc
Variant0006
Relatedalso
ClinVar
Risk rs137853017(C;C)
Alt rs137853017(C;C)
Reference rs137853017(T;T)
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.23912179A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000005852.3,