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rs137853018

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137853018(C;C)
Make rs137853018(C;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position23334134
GeneSACS
is asnp
is mentioned by
dbSNPrs137853018
ebirs137853018
HLIrs137853018
Exacrs137853018
Varsomers137853018
Maprs137853018
PheGenIrs137853018
hapmaprs137853018
1000 genomesrs137853018
hgdprs137853018
ensemblrs137853018
gopubmedrs137853018
geneviewrs137853018
scholarrs137853018
googlers137853018
pharmgkbrs137853018
gwascentralrs137853018
openSNPrs137853018
23andMers137853018
23andMe allrs137853018
SNP Nexus

SNPshotrs137853018
SNPdbers137853018
MSV3drs137853018
GWAS Ctlgrs137853018
Max Magnitude0
OMIM604490
Desc
Variant0008
Relatedalso
ClinVar
Risk rs137853018(C;C)
Alt rs137853018(C;C)
Reference rs137853018(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.23908273A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000005854.3,