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rs587784366

From SNPedia

Orientationminus
Geno Mag Summary
(CCAGGTAGCG;CCAGGTAGCG) 0 common in clinvar
Make rs587784366(-;-)
Make rs587784366(-;CCAGGTAGCG)
ReferenceGRCh38.p2 38.2/144
Chromosome19
Position49861766
GenePNKP
is asnp
is mentioned by
dbSNPrs587784366
ebirs587784366
HLIrs587784366
Exacrs587784366
Varsomers587784366
Maprs587784366
PheGenIrs587784366
hapmaprs587784366
1000 genomesrs587784366
hgdprs587784366
ensemblrs587784366
gopubmedrs587784366
geneviewrs587784366
scholarrs587784366
googlers587784366
pharmgkbrs587784366
gwascentralrs587784366
openSNPrs587784366
23andMers587784366
23andMe allrs587784366
SNP Nexus

SNPshotrs587784366
SNPdbers587784366
MSV3drs587784366
GWAS Ctlgrs587784366
Max Magnitude0
ClinVar
Risk rs587784366(;)
Alt rs587784366(;)
Reference rs587784366(CCAGGTAGCG;CCAGGTAGCG)
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.50365023_50365032delCGCTACCTGG
CLNSRC
CLNACC RCV000147346.1, RCV000188473.1,