rs587784366

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(CCAGGTAGCG;CCAGGTAGCG)	0	common in clinvar

Make rs587784366(-;-)

Make rs587784366(-;CCAGGTAGCG)

Reference

GRCh38.p2 38.2/144

Chromosome

19

Position

49861766

Gene

PNKP

is a	snp
is	mentioned by
dbSNP	rs587784366
dbSNP (classic)	rs587784366
ClinGen	rs587784366
ebi	rs587784366
HLI	rs587784366
Exac	rs587784366
Gnomad	rs587784366
Varsome	rs587784366
LitVar	rs587784366
Map	rs587784366
PheGenI	rs587784366
Biobank	rs587784366
1000 genomes	rs587784366
hgdp	rs587784366
ensembl	rs587784366
geneview	rs587784366
scholar	rs587784366
google	rs587784366
pharmgkb	rs587784366
gwascentral	rs587784366
openSNP	rs587784366
23andMe	rs587784366
SNPshot	rs587784366
SNPdbe	rs587784366
MSV3d	rs587784366
GWAS Ctlg	rs587784366

Max Magnitude

0

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,