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rs796052862

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs796052862(-;AGCCG)
Make rs796052862(AGCCG;AGCCG)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position49861672
GenePNKP
is asnp
is mentioned by
dbSNPrs796052862
ClinGenrs796052862
ebirs796052862
HLIrs796052862
Exacrs796052862
Varsomers796052862
Maprs796052862
PheGenIrs796052862
hapmaprs796052862
1000 genomesrs796052862
hgdprs796052862
ensemblrs796052862
gopubmedrs796052862
geneviewrs796052862
scholarrs796052862
googlers796052862
pharmgkbrs796052862
gwascentralrs796052862
openSNPrs796052862
23andMers796052862
23andMe allrs796052862
SNP Nexus

SNPshotrs796052862
SNPdbers796052862
MSV3drs796052862
GWAS Ctlgrs796052862
Max Magnitude0
ClinVar
Risk rs796052862(AGCCG;AGCCG)
Alt rs796052862(AGCCG;AGCCG)
Reference Rs796052862(-;-)
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.50364930_50364934dupCGGCT
CLNSRC
CLNACC RCV000174913.1, RCV000188475.1,