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rs794727355

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794727355(A;A)
Make rs794727355(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position13283266
GeneCACNA1A
is asnp
is mentioned by
dbSNPrs794727355
ebirs794727355
HLIrs794727355
Exacrs794727355
Varsomers794727355
Maprs794727355
PheGenIrs794727355
hapmaprs794727355
1000 genomesrs794727355
hgdprs794727355
ensemblrs794727355
gopubmedrs794727355
geneviewrs794727355
scholarrs794727355
googlers794727355
pharmgkbrs794727355
gwascentralrs794727355
openSNPrs794727355
23andMers794727355
23andMe allrs794727355
SNP Nexus

SNPshotrs794727355
SNPdbers794727355
MSV3drs794727355
GWAS Ctlgrs794727355
Max Magnitude0
ClinVar
Risk rs794727355(A;A)
Alt rs794727355(A;A)
Reference rs794727355(G;G)
Significance Pathogenic
Disease Episodic ataxia type 2
Variation info
Gene CACNA1A
CLNDBN Episodic ataxia type 2
Reversed 1
HGVS NC_000019.9:g.13394080C>T
CLNSRC
CLNACC RCV000176279.1,