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rs1057519454

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057519454(C;T)
Make rs1057519454(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position136410732
GenePMPCA, SDCCAG3
is asnp
is mentioned by
dbSNPrs1057519454
dbSNP (old)rs1057519454
ClinGenrs1057519454
ebirs1057519454
HLIrs1057519454
Exacrs1057519454
Gnomadrs1057519454
Varsomers1057519454
LitVarrs1057519454
Maprs1057519454
PheGenIrs1057519454
Biobankrs1057519454
1000 genomesrs1057519454
hgdprs1057519454
ensemblrs1057519454
gopubmedrs1057519454
geneviewrs1057519454
scholarrs1057519454
googlers1057519454
pharmgkbrs1057519454
gwascentralrs1057519454
openSNPrs1057519454
23andMers1057519454
23andMe allrs1057519454
SNPshotrs1057519454
SNPdbers1057519454
MSV3drs1057519454
GWAS Ctlgrs1057519454
Max Magnitude0
ClinVar
Risk rs1057519454(T;T)
Alt rs1057519454(T;T)
Reference Rs1057519454(C;C)
Significance Pathogenic
Disease Spinocerebellar ataxia
Variation info
Gene PMPCA SDCCAG3
CLNDBN Spinocerebellar ataxia, autosomal recessive 2
Reversed 0
HGVS NC_000009.11:g.139305184C>T
CLNSRC
CLNACC RCV000416418.1,