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rs372148913

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs372148913(A;A)
Make rs372148913(A;G)
ReferenceGRCh38 38.1/142
Chromosome19
Position49862432
GenePNKP
is asnp
is mentioned by
dbSNPrs372148913
ebirs372148913
HLIrs372148913
Exacrs372148913
Varsomers372148913
Maprs372148913
PheGenIrs372148913
hapmaprs372148913
1000 genomesrs372148913
hgdprs372148913
ensemblrs372148913
gopubmedrs372148913
geneviewrs372148913
scholarrs372148913
googlers372148913
pharmgkbrs372148913
gwascentralrs372148913
openSNPrs372148913
23andMers372148913
23andMe allrs372148913
SNP Nexus

SNPshotrs372148913
SNPdbers372148913
MSV3drs372148913
GWAS Ctlgrs372148913
Max Magnitude0
ClinVar
Risk rs372148913(A;A)
Alt rs372148913(A;A)
Reference rs372148913(G;G)
Significance Probable-Pathogenic
Disease Early infantile epileptic encephalopathy 10 not provided not specified
Variation info
Gene PNKP
CLNDBN Early infantile epileptic encephalopathy 10 not provided not specified
Reversed 0
HGVS NC_000019.9:g.50365689G>A
CLNSRC ClinVar University of Chicago
CLNACC RCV000147374.1, RCV000174119.3, RCV000235200.1,