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rs267606956

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267606956(A;A)
Make rs267606956(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position49862424
GenePNKP
is asnp
is mentioned by
dbSNPrs267606956
ebirs267606956
HLIrs267606956
Exacrs267606956
Varsomers267606956
Maprs267606956
PheGenIrs267606956
hapmaprs267606956
1000 genomesrs267606956
hgdprs267606956
ensemblrs267606956
gopubmedrs267606956
geneviewrs267606956
scholarrs267606956
googlers267606956
pharmgkbrs267606956
gwascentralrs267606956
openSNPrs267606956
23andMers267606956
23andMe allrs267606956
SNP Nexus

SNPshotrs267606956
SNPdbers267606956
MSV3drs267606956
GWAS Ctlgrs267606956
Max Magnitude0
ClinVar
Risk rs267606956(A;A)
Alt rs267606956(A;A)
Reference rs267606956(G;G)
Significance Pathogenic
Disease Early infantile epileptic encephalopathy 10 not provided
Variation info
Gene PNKP
CLNDBN Early infantile epileptic encephalopathy 10 not provided
Reversed 1
HGVS NC_000019.9:g.50365681C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005119.3, RCV000188441.2,