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rs746549806

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs746549806(A;A)
Make rs746549806(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position136417083
GenePMPCA
is asnp
is mentioned by
dbSNPrs746549806
ebirs746549806
HLIrs746549806
Exacrs746549806
Varsomers746549806
Maprs746549806
PheGenIrs746549806
hapmaprs746549806
1000 genomesrs746549806
hgdprs746549806
ensemblrs746549806
gopubmedrs746549806
geneviewrs746549806
scholarrs746549806
googlers746549806
pharmgkbrs746549806
gwascentralrs746549806
openSNPrs746549806
23andMers746549806
23andMe allrs746549806
SNP Nexus

SNPshotrs746549806
SNPdbers746549806
MSV3drs746549806
GWAS Ctlgrs746549806
Max Magnitude0
ClinVar
Risk rs746549806(A;A)
Alt rs746549806(A;A)
Reference rs746549806(G;G)
Significance Pathogenic
Disease Spinocerebellar ataxia
Variation info
Gene PMPCA
CLNDBN Spinocerebellar ataxia, autosomal recessive 2
Reversed 0
HGVS NC_000009.11:g.139311535G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000207212.1,