rs267606957

Orientation

minus

Stabilized

minus

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

Make rs267606957(C;T)

Make rs267606957(T;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

49864376

Gene

PNKP

is a	snp
is	mentioned by
dbSNP	rs267606957
dbSNP (classic)	rs267606957
ClinGen	rs267606957
ebi	rs267606957
HLI	rs267606957
Exac	rs267606957
Gnomad	rs267606957
Varsome	rs267606957
LitVar	rs267606957
Map	rs267606957
PheGenI	rs267606957
Biobank	rs267606957
1000 genomes	rs267606957
hgdp	rs267606957
ensembl	rs267606957
geneview	rs267606957
scholar	rs267606957
google	rs267606957
pharmgkb	rs267606957
gwascentral	rs267606957
openSNP	rs267606957
23andMe	rs267606957
SNPshot	rs267606957
SNPdbe	rs267606957
MSV3d	rs267606957
GWAS Ctlg	rs267606957

Max Magnitude

0

ClinVar
Risk	rs267606957(G;G) rs267606957(T;T)
Alt	rs267606957(G;G) rs267606957(T;T)
Reference	Rs267606957(C;C)
Significance	Pathogenic
Disease	Early infantile epileptic encephalopathy 10
Variation	info
Gene	PNKP
CLNDBN	Early infantile epileptic encephalopathy 10
Reversed	1
HGVS	NC_000019.9:g.50367633G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005121.4,