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rs863225242

From SNPedia

Orientationminus
Make rs863225242(-;-)
Make rs863225242(-;T)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position141529181
GeneDIAPH1
is asnp
is mentioned by
dbSNPrs863225242
ebirs863225242
HLIrs863225242
Exacrs863225242
Varsomers863225242
Maprs863225242
PheGenIrs863225242
hapmaprs863225242
1000 genomesrs863225242
hgdprs863225242
ensemblrs863225242
gopubmedrs863225242
geneviewrs863225242
scholarrs863225242
googlers863225242
pharmgkbrs863225242
gwascentralrs863225242
openSNPrs863225242
23andMers863225242
23andMe allrs863225242
SNP Nexus

SNPshotrs863225242
SNPdbers863225242
MSV3drs863225242
GWAS Ctlgrs863225242
Max Magnitude
ClinVar
Risk rs863225242(;)
Alt rs863225242(;)
Reference rs863225242(T;T)
Significance Pathogenic
Disease Seizures
Variation info
Gene DIAPH1
CLNDBN Seizures, cortical blindness, and microcephaly syndrome
Reversed 1
HGVS NC_000005.9:g.140908748delA
CLNSRC OMIM Allelic Variant
CLNACC RCV000201796.1,