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rs1057519197

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057519197(C;C)
Make rs1057519197(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position13231708
GeneCACNA1A
is asnp
is mentioned by
dbSNPrs1057519197
dbSNP (old)rs1057519197
ClinGenrs1057519197
ebirs1057519197
HLIrs1057519197
Exacrs1057519197
Gnomadrs1057519197
Varsomers1057519197
LitVarrs1057519197
Maprs1057519197
PheGenIrs1057519197
Biobankrs1057519197
1000 genomesrs1057519197
hgdprs1057519197
ensemblrs1057519197
gopubmedrs1057519197
geneviewrs1057519197
scholarrs1057519197
googlers1057519197
pharmgkbrs1057519197
gwascentralrs1057519197
openSNPrs1057519197
23andMers1057519197
23andMe allrs1057519197
SNPshotrs1057519197
SNPdbers1057519197
MSV3drs1057519197
GWAS Ctlgrs1057519197
Max Magnitude0
ClinVar
Risk rs1057519197(C;C)
Alt rs1057519197(C;C)
Reference Rs1057519197(T;T)
Significance Probable-Pathogenic
Disease not provided
Variation info
Gene CACNA1A
CLNDBN not provided
Reversed 1
HGVS NC_000019.9:g.13342522A>G
CLNSRC
CLNACC RCV000416213.1,