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rs786205231

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs786205231(C;C)
Make rs786205231(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position110603995
GeneKCNA2
is asnp
is mentioned by
dbSNPrs786205231
ebirs786205231
HLIrs786205231
Exacrs786205231
Varsomers786205231
Maprs786205231
PheGenIrs786205231
hapmaprs786205231
1000 genomesrs786205231
hgdprs786205231
ensemblrs786205231
gopubmedrs786205231
geneviewrs786205231
scholarrs786205231
googlers786205231
pharmgkbrs786205231
gwascentralrs786205231
openSNPrs786205231
23andMers786205231
23andMe allrs786205231
SNP Nexus

SNPshotrs786205231
SNPdbers786205231
MSV3drs786205231
GWAS Ctlgrs786205231
Max Magnitude0
ClinVar
Risk rs786205231(C;C)
Alt rs786205231(C;C)
Reference rs786205231(T;T)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene KCNA2
CLNDBN Epileptic encephalopathy, early infantile, 32
Reversed 1
HGVS NC_000001.10:g.111146617A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000170512.3,