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rs1060499592

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060499592(A;A)
Make rs1060499592(A;C)
ReferenceGRCh38.p7 38.3/150
Chromosome20
Position49374407
GeneKCNB1, LOC105372649
is asnp
is mentioned by
dbSNPrs1060499592
dbSNP (old)rs1060499592
ClinGenrs1060499592
ebirs1060499592
HLIrs1060499592
Exacrs1060499592
Gnomadrs1060499592
Varsomers1060499592
Maprs1060499592
PheGenIrs1060499592
Biobankrs1060499592
1000 genomesrs1060499592
hgdprs1060499592
ensemblrs1060499592
gopubmedrs1060499592
geneviewrs1060499592
scholarrs1060499592
googlers1060499592
pharmgkbrs1060499592
gwascentralrs1060499592
openSNPrs1060499592
23andMers1060499592
23andMe allrs1060499592
SNPshotrs1060499592
SNPdbers1060499592
MSV3drs1060499592
GWAS Ctlgrs1060499592
Max Magnitude0
ClinVar
Risk rs1060499592(A;A)
Alt rs1060499592(A;A)
Reference Rs1060499592(C;C)
Significance Probable-Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene KCNB1
CLNDBN Epileptic encephalopathy, early infantile, 26
Reversed 1
HGVS NC_000020.10:g.47990944G>T
CLNSRC
CLNACC RCV000477903.1,