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rs797045143

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797045143(C;T)
Make rs797045143(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome19
Position2438464
GeneLMNB2
is asnp
is mentioned by
dbSNPrs797045143
ebirs797045143
HLIrs797045143
Exacrs797045143
Varsomers797045143
Maprs797045143
PheGenIrs797045143
hapmaprs797045143
1000 genomesrs797045143
hgdprs797045143
ensemblrs797045143
gopubmedrs797045143
geneviewrs797045143
scholarrs797045143
googlers797045143
pharmgkbrs797045143
gwascentralrs797045143
openSNPrs797045143
23andMers797045143
23andMe allrs797045143
SNP Nexus

SNPshotrs797045143
SNPdbers797045143
MSV3drs797045143
GWAS Ctlgrs797045143
Max Magnitude0
ClinVar
Risk rs797045143(T;T)
Alt rs797045143(T;T)
Reference rs797045143(C;C)
Significance Pathogenic
Disease Epilepsy
Variation info
Gene LMNB2
CLNDBN Epilepsy, progressive myoclonic, 9
Reversed 1
HGVS NC_000019.9:g.2438462G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000190899.2,