rs752902474

Orientation

plus

Stabilized

plus

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

Make rs752902474(-;-)

Make rs752902474(-;GGAGGAGGGGACTGGGG)

Make rs752902474(GGAGGAGGGGACTGGGG;GGAGGAGGGGACTGGGG)

Reference

GRCh38.p2 38.2/147

Chromosome

19

Position

49861543

is a	snp
is	mentioned by
dbSNP	rs752902474
dbSNP (classic)	rs752902474
ClinGen	rs752902474
ebi	rs752902474
HLI	rs752902474
Exac	rs752902474
Gnomad	rs752902474
Varsome	rs752902474
LitVar	rs752902474
Map	rs752902474
PheGenI	rs752902474
Biobank	rs752902474
1000 genomes	rs752902474
hgdp	rs752902474
ensembl	rs752902474
geneview	rs752902474
scholar	rs752902474
google	rs752902474
pharmgkb	rs752902474
gwascentral	rs752902474
openSNP	rs752902474
23andMe	rs752902474
SNPshot	rs752902474
SNPdbe	rs752902474
MSV3d	rs752902474
GWAS Ctlg	rs752902474

Max Magnitude

0

ClinVar
Risk	rs752902474(-;-)
Alt	rs752902474(-;-)
Reference	Rs752902474(GGGGTCAGGGGAGGAGG;GGGGTCAGGGGAGGAGG)
Significance	Pathogenic
Disease	Early infantile epileptic encephalopathy 10
Variation	info
Gene	PNKP
CLNDBN	Early infantile epileptic encephalopathy 10
Reversed	0
HGVS	NC_000019.9:g.50364800_50364816del17
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000194165.2,