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rs267606957

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267606957(C;T)
Make rs267606957(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position49864376
GenePNKP
is asnp
is mentioned by
dbSNPrs267606957
ebirs267606957
HLIrs267606957
Exacrs267606957
Varsomers267606957
Maprs267606957
PheGenIrs267606957
hapmaprs267606957
1000 genomesrs267606957
hgdprs267606957
ensemblrs267606957
gopubmedrs267606957
geneviewrs267606957
scholarrs267606957
googlers267606957
pharmgkbrs267606957
gwascentralrs267606957
openSNPrs267606957
23andMers267606957
23andMe allrs267606957
SNP Nexus

SNPshotrs267606957
SNPdbers267606957
MSV3drs267606957
GWAS Ctlgrs267606957
Max Magnitude0
ClinVar
Risk rs267606957(G,T;G,T)
Alt rs267606957(G,T;G,T)
Reference rs267606957(C;C)
Significance Pathogenic
Disease Early infantile epileptic encephalopathy 10
Variation info
Gene PNKP
CLNDBN Early infantile epileptic encephalopathy 10
Reversed 1
HGVS NC_000019.9:g.50367633G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005121.3,