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rs869312920

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs869312920(C;C)
Make rs869312920(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position181724488
GeneCACNA1E
is asnp
is mentioned by
dbSNPrs869312920
ebirs869312920
HLIrs869312920
Exacrs869312920
Varsomers869312920
Maprs869312920
PheGenIrs869312920
hapmaprs869312920
1000 genomesrs869312920
hgdprs869312920
ensemblrs869312920
gopubmedrs869312920
geneviewrs869312920
scholarrs869312920
googlers869312920
pharmgkbrs869312920
gwascentralrs869312920
openSNPrs869312920
23andMers869312920
23andMe allrs869312920
SNP Nexus

SNPshotrs869312920
SNPdbers869312920
MSV3drs869312920
GWAS Ctlgrs869312920
Max Magnitude0
ClinVar
Risk rs869312920(C;C)
Alt rs869312920(C;C)
Reference rs869312920(T;T)
Significance Probable-Pathogenic
Disease Inborn genetic diseases
Variation info
Gene CACNA1E
CLNDBN Inborn genetic diseases
Reversed 0
HGVS NC_000001.10:g.181693624T>C
CLNSRC
CLNACC RCV000210541.1,