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rs137853016

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137853016(C;C)
Make rs137853016(C;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position23331656
GeneSACS
is asnp
is mentioned by
dbSNPrs137853016
ebirs137853016
HLIrs137853016
Exacrs137853016
Varsomers137853016
Maprs137853016
PheGenIrs137853016
hapmaprs137853016
1000 genomesrs137853016
hgdprs137853016
ensemblrs137853016
gopubmedrs137853016
geneviewrs137853016
scholarrs137853016
googlers137853016
pharmgkbrs137853016
gwascentralrs137853016
openSNPrs137853016
23andMers137853016
23andMe allrs137853016
SNP Nexus

SNPshotrs137853016
SNPdbers137853016
MSV3drs137853016
GWAS Ctlgrs137853016
Max Magnitude0
OMIM604490
Desc
Variant0003
Relatedalso
ClinVar
Risk rs137853016(C;C)
Alt rs137853016(C;C)
Reference rs137853016(G;G)
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.23905795C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000005849.3,