rs267606956

Orientation

minus

Stabilized

minus

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

Make rs267606956(A;A)

Make rs267606956(A;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

49862424

Gene

PNKP

is a	snp
is	mentioned by
dbSNP	rs267606956
dbSNP (classic)	rs267606956
ClinGen	rs267606956
ebi	rs267606956
HLI	rs267606956
Exac	rs267606956
Gnomad	rs267606956
Varsome	rs267606956
LitVar	rs267606956
Map	rs267606956
PheGenI	rs267606956
Biobank	rs267606956
1000 genomes	rs267606956
hgdp	rs267606956
ensembl	rs267606956
geneview	rs267606956
scholar	rs267606956
google	rs267606956
pharmgkb	rs267606956
gwascentral	rs267606956
openSNP	rs267606956
23andMe	rs267606956
SNPshot	rs267606956
SNPdbe	rs267606956
MSV3d	rs267606956
GWAS Ctlg	rs267606956

Max Magnitude

0

ClinVar
Risk	rs267606956(A;A)
Alt	rs267606956(A;A)
Reference	Rs267606956(G;G)
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.50365681C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005119.3, RCV000188441.2,