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rs1057519429

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057519429(C;C)
Make rs1057519429(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position13235666
GeneCACNA1A
is asnp
is mentioned by
dbSNPrs1057519429
dbSNP (old)rs1057519429
ClinGenrs1057519429
ebirs1057519429
HLIrs1057519429
Exacrs1057519429
Gnomadrs1057519429
Varsomers1057519429
Maprs1057519429
PheGenIrs1057519429
Biobankrs1057519429
1000 genomesrs1057519429
hgdprs1057519429
ensemblrs1057519429
gopubmedrs1057519429
geneviewrs1057519429
scholarrs1057519429
googlers1057519429
pharmgkbrs1057519429
gwascentralrs1057519429
openSNPrs1057519429
23andMers1057519429
23andMe allrs1057519429
SNPshotrs1057519429
SNPdbers1057519429
MSV3drs1057519429
GWAS Ctlgrs1057519429
Max Magnitude0
ClinVar
Risk rs1057519429(C;C)
Alt rs1057519429(C;C)
Reference Rs1057519429(G;G)
Significance Pathogenic
Disease Ataxia
Variation info
Gene CACNA1A
CLNDBN Ataxia
Reversed 1
HGVS NC_000019.9:g.13346480C>G
CLNSRC
CLNACC RCV000416438.1,