rs587784365

Orientation

minus

Stabilized

minus

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

Make rs587784365(-;GGGTCGCCATCGACAAC)

Make rs587784365(GGGTCGCCATCGACAAC;GGGTCGCCATCGACAAC)

Reference

GRCh38.p2 38.2/144

Chromosome

19

Position

49861800

Gene

PNKP

is a	snp
is	mentioned by
dbSNP	rs587784365
dbSNP (classic)	rs587784365
ClinGen	rs587784365
ebi	rs587784365
HLI	rs587784365
Exac	rs587784365
Gnomad	rs587784365
Varsome	rs587784365
LitVar	rs587784365
Map	rs587784365
PheGenI	rs587784365
Biobank	rs587784365
1000 genomes	rs587784365
hgdp	rs587784365
ensembl	rs587784365
geneview	rs587784365
scholar	rs587784365
google	rs587784365
pharmgkb	rs587784365
gwascentral	rs587784365
openSNP	rs587784365
23andMe	rs587784365
SNPshot	rs587784365
SNPdbe	rs587784365
MSV3d	rs587784365
GWAS Ctlg	rs587784365

Max Magnitude

0

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,