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rs863225243

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs863225243(C;T)
Make rs863225243(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position141528456
GeneDIAPH1
is asnp
is mentioned by
dbSNPrs863225243
ebirs863225243
HLIrs863225243
Exacrs863225243
Varsomers863225243
Maprs863225243
PheGenIrs863225243
hapmaprs863225243
1000 genomesrs863225243
hgdprs863225243
ensemblrs863225243
gopubmedrs863225243
geneviewrs863225243
scholarrs863225243
googlers863225243
pharmgkbrs863225243
gwascentralrs863225243
openSNPrs863225243
23andMers863225243
23andMe allrs863225243
SNP Nexus

SNPshotrs863225243
SNPdbers863225243
MSV3drs863225243
GWAS Ctlgrs863225243
Max Magnitude0
ClinVar
Risk rs863225243(T;T)
Alt rs863225243(T;T)
Reference rs863225243(C;C)
Significance Pathogenic
Disease Seizures
Variation info
Gene DIAPH1
CLNDBN Seizures, cortical blindness, and microcephaly syndrome
Reversed 1
HGVS NC_000005.9:g.140908023G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000201798.1,