Have questions? Visit https://www.reddit.com/r/SNPedia

rs727503785

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs727503785(C;C)
Make rs727503785(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome13
Position23340287
GeneSACS
is asnp
is mentioned by
dbSNPrs727503785
ebirs727503785
HLIrs727503785
Exacrs727503785
Varsomers727503785
Maprs727503785
PheGenIrs727503785
hapmaprs727503785
1000 genomesrs727503785
hgdprs727503785
ensemblrs727503785
gopubmedrs727503785
geneviewrs727503785
scholarrs727503785
googlers727503785
pharmgkbrs727503785
gwascentralrs727503785
openSNPrs727503785
23andMers727503785
23andMe allrs727503785
SNP Nexus

SNPshotrs727503785
SNPdbers727503785
MSV3drs727503785
GWAS Ctlgrs727503785
Max Magnitude0
ClinVar
Risk rs727503785(C;C)
Alt rs727503785(C;C)
Reference rs727503785(T;T)
Significance Probable-Pathogenic
Disease Spastic ataxia Charlevoix-Saguenay type
Variation info
Gene SACS
CLNDBN Spastic ataxia Charlevoix-Saguenay type
Reversed 1
HGVS NC_000013.10:g.23914426A>G
CLNSRC
CLNACC RCV000157061.2,