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rs695871

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs695871(C;G)
Make rs695871(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position111599196
GeneATXN2, LOC102723619
is asnp
is mentioned by
dbSNPrs695871
ebirs695871
HLIrs695871
Exacrs695871
Varsomers695871
Maprs695871
PheGenIrs695871
hapmaprs695871
1000 genomesrs695871
hgdprs695871
ensemblrs695871
gopubmedrs695871
geneviewrs695871
scholarrs695871
googlers695871
pharmgkbrs695871
gwascentralrs695871
openSNPrs695871
23andMers695871
23andMe allrs695871
SNP Nexus

SNPshotrs695871
SNPdbers695871
MSV3drs695871
GWAS Ctlgrs695871
GMAF0.4587
Max Magnitude0
? (C;C) (C;G) (G;G) 28


Venter snp
Source plos
Gene ATXN2
allele C
frequency 0.725
sift
HuRef 1103649539001
Disease Association Defects in ATXN2 are the cause of spinocerebellar ataxia type 2 (SCA2) (MIM:183090); also known as olivopontocerebellar atrophy II (OPCA II). SCA2 is a neurodegenerative disorder characterized by progressive cerebellar ataxia, hyporeflexia, myoclonus and action tremor, and dopamine-responsive parkinsonism. It affects the cerebellum and other areas of the central nervous system.



[PMID 16205789OA-icon.png] Positive selection of a pre-expansion CAG repeat of the human SCA2 gene.


[PMID 20016785OA-icon.png] Genetic variance in the spinocerebellar ataxia type 2 (ATXN2) gene in children with severe early onset obesity.


ClinVar
Risk rs695871(G;G)
Alt rs695871(G;G)
Reference rs695871(C;C)
Significance Probable-non-pathogenic
Disease not specified
Variation info
Gene ATXN2
CLNDBN not specified
Reversed 1
HGVS NC_000012.11:g.112037000G>C
CLNSRC ClinVar University of Chicago
CLNACC RCV000116477.2,