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rs587784365

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs587784365(-;GGGTCGCCATCGACAAC)
Make rs587784365(GGGTCGCCATCGACAAC;GGGTCGCCATCGACAAC)
ReferenceGRCh38.p2 38.2/144
Chromosome19
Position49861800
GenePNKP
is asnp
is mentioned by
dbSNPrs587784365
dbSNP (old)rs587784365
ClinGenrs587784365
ebirs587784365
HLIrs587784365
Exacrs587784365
Gnomadrs587784365
Varsomers587784365
Maprs587784365
PheGenIrs587784365
Biobankrs587784365
1000 genomesrs587784365
hgdprs587784365
ensemblrs587784365
gopubmedrs587784365
geneviewrs587784365
scholarrs587784365
googlers587784365
pharmgkbrs587784365
gwascentralrs587784365
openSNPrs587784365
23andMers587784365
23andMe allrs587784365
SNP Nexus

SNPshotrs587784365
SNPdbers587784365
MSV3drs587784365
GWAS Ctlgrs587784365
Max Magnitude0
ClinVar
Risk rs587784365(GGGTCGCCATCGACAAC;GGGTCGCCATCGACAAC)
Alt rs587784365(GGGTCGCCATCGACAAC;GGGTCGCCATCGACAAC)
Reference Rs587784365(-;-)
Significance Pathogenic
Disease Early infantile epileptic encephalopathy 10 Ataxia-oculomotor apraxia 4 not provided
Variation info
Gene PNKP
CLNDBN Early infantile epileptic encephalopathy 10 Ataxia-oculomotor apraxia 4 not provided
Reversed 1
HGVS NC_000019.9:g.50365058_50365074dup17
CLNSRC OMIM Allelic Variant
CLNACC RCV000005120.7, RCV000167521.5, RCV000188471.1,