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rs863225424

From SNPedia

Orientationplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs863225424(-;TCAGCACC)
Make rs863225424(TCAGCACC;TCAGCACC)
ReferenceGRCh38.p2 38.2/147
Chromosome20
Position3218587
GeneITPA
is asnp
is mentioned by
dbSNPrs863225424
ClinGenrs863225424
ebirs863225424
HLIrs863225424
Exacrs863225424
Varsomers863225424
Maprs863225424
PheGenIrs863225424
hapmaprs863225424
1000 genomesrs863225424
hgdprs863225424
ensemblrs863225424
gopubmedrs863225424
geneviewrs863225424
scholarrs863225424
googlers863225424
pharmgkbrs863225424
gwascentralrs863225424
openSNPrs863225424
23andMers863225424
23andMe allrs863225424
SNP Nexus

SNPshotrs863225424
SNPdbers863225424
MSV3drs863225424
GWAS Ctlgrs863225424
Max Magnitude0
ClinVar
Risk rs863225424(CTCAGCAC;CTCAGCAC)
Alt rs863225424(CTCAGCAC;CTCAGCAC)
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,