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rs746930990

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs746930990(C;T)
Make rs746930990(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome20
Position3223409
GeneITPA
is asnp
is mentioned by
dbSNPrs746930990
ebirs746930990
HLIrs746930990
Exacrs746930990
Varsomers746930990
Maprs746930990
PheGenIrs746930990
hapmaprs746930990
1000 genomesrs746930990
hgdprs746930990
ensemblrs746930990
gopubmedrs746930990
geneviewrs746930990
scholarrs746930990
googlers746930990
pharmgkbrs746930990
gwascentralrs746930990
openSNPrs746930990
23andMers746930990
23andMe allrs746930990
SNP Nexus

SNPshotrs746930990
SNPdbers746930990
MSV3drs746930990
GWAS Ctlgrs746930990
Max Magnitude0
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,