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rs141315518

From SNPedia

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Geno Mag Summary
(G;G) 0 common in clinvar
Make rs141315518(G;T)
Make rs141315518(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome13
Position23331644
GeneSACS
is asnp
is mentioned by
dbSNPrs141315518
ebirs141315518
HLIrs141315518
Exacrs141315518
Varsomers141315518
Maprs141315518
PheGenIrs141315518
hapmaprs141315518
1000 genomesrs141315518
hgdprs141315518
ensemblrs141315518
gopubmedrs141315518
geneviewrs141315518
scholarrs141315518
googlers141315518
pharmgkbrs141315518
gwascentralrs141315518
openSNPrs141315518
23andMers141315518
23andMe allrs141315518
SNP Nexus

SNPshotrs141315518
SNPdbers141315518
MSV3drs141315518
GWAS Ctlgrs141315518
Max Magnitude0
ClinVar
Risk rs141315518(A,C,T;A,C,T)
Alt rs141315518(A,C,T;A,C,T)
Reference rs141315518(G;G)
Significance Probable-Pathogenic
Disease Spastic ataxia Charlevoix-Saguenay type
Variation info
Gene SACS
CLNDBN Spastic ataxia Charlevoix-Saguenay type
Reversed 0
HGVS NC_000013.10:g.23905783G>A
CLNSRC Counsyl
CLNACC RCV000169220.1,