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rs137853019

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137853019(C;C)
Make rs137853019(C;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position23340715
GeneSACS
is asnp
is mentioned by
dbSNPrs137853019
ebirs137853019
HLIrs137853019
Exacrs137853019
Varsomers137853019
Maprs137853019
PheGenIrs137853019
hapmaprs137853019
1000 genomesrs137853019
hgdprs137853019
ensemblrs137853019
gopubmedrs137853019
geneviewrs137853019
scholarrs137853019
googlers137853019
pharmgkbrs137853019
gwascentralrs137853019
openSNPrs137853019
23andMers137853019
23andMe allrs137853019
SNP Nexus

SNPshotrs137853019
SNPdbers137853019
MSV3drs137853019
GWAS Ctlgrs137853019
Max Magnitude0
OMIM604490
Desc
Variant0009
Relatedalso
ClinVar
Risk rs137853019(C;C)
Alt rs137853019(C;C)
Reference rs137853019(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.23914854A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000005855.3,