rs200086262

Orientation

plus

Stabilized

plus

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

Make rs200086262(A;A)

Make rs200086262(A;G)

Reference

GRCh38.p2 38.2/147

Chromosome

20

Position

3221881

Gene

ITPA

is a	snp
is	mentioned by
dbSNP	rs200086262
dbSNP (classic)	rs200086262
ClinGen	rs200086262
ebi	rs200086262
HLI	rs200086262
Exac	rs200086262
Gnomad	rs200086262
Varsome	rs200086262
LitVar	rs200086262
Map	rs200086262
PheGenI	rs200086262
Biobank	rs200086262
1000 genomes	rs200086262
hgdp	rs200086262
ensembl	rs200086262
geneview	rs200086262
scholar	rs200086262
google	rs200086262
pharmgkb	rs200086262
gwascentral	rs200086262
openSNP	rs200086262
23andMe	rs200086262
SNPshot	rs200086262
SNPdbe	rs200086262
MSV3d	rs200086262
GWAS Ctlg	rs200086262

Max Magnitude

0

ClinVar
Risk	rs200086262(A;A)
Alt	rs200086262(A;A)
Reference	Rs200086262(G;G)
Significance	Pathogenic
Disease	Epileptic encephalopathy
Variation	info
Gene	ITPA
CLNDBN	Epileptic encephalopathy, early infantile, 35
Reversed	0
HGVS	NC_000020.10:g.3202527G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000202318.2,