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rs1057518779

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057518779(C;T)
Make rs1057518779(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position13371745
GeneCACNA1A
is asnp
is mentioned by
dbSNPrs1057518779
dbSNP (old)rs1057518779
ClinGenrs1057518779
ebirs1057518779
HLIrs1057518779
Exacrs1057518779
Gnomadrs1057518779
Varsomers1057518779
Maprs1057518779
PheGenIrs1057518779
Biobankrs1057518779
1000 genomesrs1057518779
hgdprs1057518779
ensemblrs1057518779
gopubmedrs1057518779
geneviewrs1057518779
scholarrs1057518779
googlers1057518779
pharmgkbrs1057518779
gwascentralrs1057518779
openSNPrs1057518779
23andMers1057518779
23andMe allrs1057518779
SNPshotrs1057518779
SNPdbers1057518779
MSV3drs1057518779
GWAS Ctlgrs1057518779
Max Magnitude0
ClinVar
Risk rs1057518779(T;T)
Alt rs1057518779(T;T)
Reference Rs1057518779(C;C)
Significance Probable-Pathogenic
Disease Ataxia Dysarthria Intention tremor Mild global developmental delay Spastic paraparesis
Variation info
Gene CACNA1A
CLNDBN Ataxia Dysarthria Intention tremor Mild global developmental delay Spastic paraparesis
Reversed 1
HGVS NC_000019.9:g.13482559G>A
CLNSRC
CLNACC RCV000415249.1,