Have questions? Visit https://www.reddit.com/r/SNPedia

rs200086262

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs200086262(A;A)
Make rs200086262(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome20
Position3221881
GeneITPA
is asnp
is mentioned by
dbSNPrs200086262
ebirs200086262
HLIrs200086262
Exacrs200086262
Varsomers200086262
Maprs200086262
PheGenIrs200086262
hapmaprs200086262
1000 genomesrs200086262
hgdprs200086262
ensemblrs200086262
gopubmedrs200086262
geneviewrs200086262
scholarrs200086262
googlers200086262
pharmgkbrs200086262
gwascentralrs200086262
openSNPrs200086262
23andMers200086262
23andMe allrs200086262
SNP Nexus

SNPshotrs200086262
SNPdbers200086262
MSV3drs200086262
GWAS Ctlgrs200086262
Max Magnitude0
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,