rs796052862

Orientation

minus

Stabilized

minus

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

Make rs796052862(-;AGCCG)

Make rs796052862(AGCCG;AGCCG)

Reference

GRCh38.p2 38.2/147

Chromosome

19

Position

49861672

Gene

PNKP

is a	snp
is	mentioned by
dbSNP	rs796052862
dbSNP (classic)	rs796052862
ClinGen	rs796052862
ebi	rs796052862
HLI	rs796052862
Exac	rs796052862
Gnomad	rs796052862
Varsome	rs796052862
LitVar	rs796052862
Map	rs796052862
PheGenI	rs796052862
Biobank	rs796052862
1000 genomes	rs796052862
hgdp	rs796052862
ensembl	rs796052862
geneview	rs796052862
scholar	rs796052862
google	rs796052862
pharmgkb	rs796052862
gwascentral	rs796052862
openSNP	rs796052862
23andMe	rs796052862
SNPshot	rs796052862
SNPdbe	rs796052862
MSV3d	rs796052862
GWAS Ctlg	rs796052862

Max Magnitude

0

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,