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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
ebirs2031640
HLIrs2031640
Exacrs2031640
Varsomers2031640
Maprs2031640
PheGenIrs2031640
hapmaprs2031640
1000 genomesrs2031640
hgdprs2031640
ensemblrs2031640
gopubmedrs2031640
geneviewrs2031640
scholarrs2031640
googlers2031640
pharmgkbrs2031640
gwascentralrs2031640
openSNPrs2031640
23andMers2031640
23andMe allrs2031640
SNP Nexus

SNPshotrs2031640
SNPdbers2031640
MSV3drs2031640
GWAS Ctlgrs2031640
GMAF0.0955
Max Magnitude0
? (A;A) (A;T) (T;T) 28
Venter snp
Source plos
Gene SACS
allele T
frequency 0.142
sift TOLERATED
HuRef 1103649171138
Disease Association Defects in SACS are the cause of autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) (MIM:270550). ARSACS is an early onset neurodegenerative disease with high prevalence in the Charlevoix-Saguenay-Lac-Saint-Jean region of Quebec. It is characterized by absent sensory-nerve conduction, reduced motor-nerve velocity and hypermyelination of retinal-nerve fibers.



GET Evidence
SACS-N232K
aa_change Asn232Lys
aa_change_short N232K
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0862774
summary



ClinVar
Risk rs2031640(T;T)
Alt rs2031640(T;T)
Reference rs2031640(A;A)
Significance Probable-non-pathogenic
Disease not specified
Variation info
Gene SACS
CLNDBN not specified
Reversed 0
HGVS NC_000013.10:g.23930055A>T
CLNSRC ClinVar University of Chicago
CLNACC RCV000118233.2,