rs372148913

Orientation

plus

Stabilized

plus

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

Make rs372148913(A;A)

Make rs372148913(A;G)

Reference

GRCh38 38.1/142

Chromosome

19

Position

49862432

Gene

PNKP

is a	snp
is	mentioned by
dbSNP	rs372148913
dbSNP (classic)	rs372148913
ClinGen	rs372148913
ebi	rs372148913
HLI	rs372148913
Exac	rs372148913
Gnomad	rs372148913
Varsome	rs372148913
LitVar	rs372148913
Map	rs372148913
PheGenI	rs372148913
Biobank	rs372148913
1000 genomes	rs372148913
hgdp	rs372148913
ensembl	rs372148913
geneview	rs372148913
scholar	rs372148913
google	rs372148913
pharmgkb	rs372148913
gwascentral	rs372148913
openSNP	rs372148913
23andMe	rs372148913
SNPshot	rs372148913
SNPdbe	rs372148913
MSV3d	rs372148913
GWAS Ctlg	rs372148913

Max Magnitude

0

ClinVar
Risk	rs372148913(A;A)
Alt	rs372148913(A;A)
Reference	Rs372148913(G;G)
Significance	Probable-Pathogenic
Disease	Early infantile epileptic encephalopathy 10 not specified
Variation	info
Gene	PNKP
CLNDBN	Early infantile epileptic encephalopathy 10 not specified
Reversed	0
HGVS	NC_000019.9:g.50365689G>A
CLNSRC	ClinVar University of Chicago
CLNACC	RCV000147374.1, RCV000235200.3,