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rs2031640

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common on affy axiom data
Make rs2031640(A;T)
Make rs2031640(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position23355916
GeneSACS
is asnp
is mentioned by
dbSNPrs2031640
dbSNP (old)rs2031640
ClinGenrs2031640
ebirs2031640
HLIrs2031640
Exacrs2031640
Gnomadrs2031640
Varsomers2031640
Maprs2031640
PheGenIrs2031640
Biobankrs2031640
1000 genomesrs2031640
hgdprs2031640
ensemblrs2031640
gopubmedrs2031640
geneviewrs2031640
scholarrs2031640
googlers2031640
pharmgkbrs2031640
gwascentralrs2031640
openSNPrs2031640
23andMers2031640
23andMe allrs2031640
SNPshotrs2031640
SNPdbers2031640
MSV3drs2031640
GWAS Ctlgrs2031640
GMAF0.0955
Max Magnitude0
? (A;A) (A;T) (T;T) 28



ClinVar
Risk rs2031640(T;T)
Alt rs2031640(T;T)
Reference Rs2031640(A;A)
Significance Other
Disease not specified Spastic ataxia Charlevoix-Saguenay type
Variation info
Gene SACS
CLNDBN not specified Spastic ataxia Charlevoix-Saguenay type
Reversed 0
HGVS NC_000013.10:g.23930055A>T
CLNSRC UniProtKB (protein)
CLNACC RCV000118233.3, RCV000304888.1,