rs746930990

Orientation

plus

Stabilized

plus

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

Make rs746930990(C;T)

Make rs746930990(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

20

Position

3223409

Gene

ITPA

is a	snp
is	mentioned by
dbSNP	rs746930990
dbSNP (classic)	rs746930990
ClinGen	rs746930990
ebi	rs746930990
HLI	rs746930990
Exac	rs746930990
Gnomad	rs746930990
Varsome	rs746930990
LitVar	rs746930990
Map	rs746930990
PheGenI	rs746930990
Biobank	rs746930990
1000 genomes	rs746930990
hgdp	rs746930990
ensembl	rs746930990
geneview	rs746930990
scholar	rs746930990
google	rs746930990
pharmgkb	rs746930990
gwascentral	rs746930990
openSNP	rs746930990
23andMe	rs746930990
SNPshot	rs746930990
SNPdbe	rs746930990
MSV3d	rs746930990
GWAS Ctlg	rs746930990

Max Magnitude

0

ClinVar
Risk	rs746930990(T;T)
Alt	rs746930990(T;T)
Reference	Rs746930990(C;C)
Significance	Pathogenic
Disease	Epileptic encephalopathy
Variation	info
Gene	ITPA
CLNDBN	Epileptic encephalopathy, early infantile, 35
Reversed	0
HGVS	NC_000020.10:g.3204055C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000202320.1,