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

rs869025293

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs869025293(A;A)
Make rs869025293(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome9
Position136423229
GenePMPCA
is asnp
is mentioned by
dbSNPrs869025293
ClinGenrs869025293
ebirs869025293
HLIrs869025293
Exacrs869025293
Varsomers869025293
Maprs869025293
PheGenIrs869025293
hapmaprs869025293
1000 genomesrs869025293
hgdprs869025293
ensemblrs869025293
gopubmedrs869025293
geneviewrs869025293
scholarrs869025293
googlers869025293
pharmgkbrs869025293
gwascentralrs869025293
openSNPrs869025293
23andMers869025293
23andMe allrs869025293
SNP Nexus

SNPshotrs869025293
SNPdbers869025293
MSV3drs869025293
GWAS Ctlgrs869025293
Max Magnitude0
ClinVar
Risk rs869025293(A;A)
Alt rs869025293(A;A)
Reference Rs869025293(G;G)
Significance Pathogenic
Disease Spinocerebellar ataxia
Variation info
Gene PMPCA
CLNDBN Spinocerebellar ataxia, autosomal recessive 2
Reversed 0
HGVS NC_000009.11:g.139317681G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000207072.2,