rs863225424

Orientation

plus

Stabilized

plus

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

Make rs863225424(-;TCAGCACC)

Make rs863225424(TCAGCACC;TCAGCACC)

Reference

GRCh38.p2 38.2/147

Chromosome

20

Position

3218587

Gene

ITPA

is a	snp
is	mentioned by
dbSNP	rs863225424
dbSNP (classic)	rs863225424
ClinGen	rs863225424
ebi	rs863225424
HLI	rs863225424
Exac	rs863225424
Gnomad	rs863225424
Varsome	rs863225424
LitVar	rs863225424
Map	rs863225424
PheGenI	rs863225424
Biobank	rs863225424
1000 genomes	rs863225424
hgdp	rs863225424
ensembl	rs863225424
geneview	rs863225424
scholar	rs863225424
google	rs863225424
pharmgkb	rs863225424
gwascentral	rs863225424
openSNP	rs863225424
23andMe	rs863225424
SNPshot	rs863225424
SNPdbe	rs863225424
MSV3d	rs863225424
GWAS Ctlg	rs863225424

Max Magnitude

0

ClinVar
Risk	rs863225424(CTCAGCAC;CTCAGCAC) rs863225424(TCAGCACC;TCAGCACC)
Alt	rs863225424(CTCAGCAC;CTCAGCAC) rs863225424(TCAGCACC;TCAGCACC)
Reference	Rs863225424(-;-)
Significance	Pathogenic
Disease	Epileptic encephalopathy
Variation	info
Gene	ITPA
CLNDBN	Epileptic encephalopathy, early infantile, 35
Reversed	0
HGVS	NC_000020.10:g.3199226_3199233dupTCAGCACC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000202316.2,