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rs730882242

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs730882242(C;T)
Make rs730882242(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position141573518
GeneDIAPH1
is asnp
is mentioned by
dbSNPrs730882242
ebirs730882242
HLIrs730882242
Exacrs730882242
Varsomers730882242
Maprs730882242
PheGenIrs730882242
hapmaprs730882242
1000 genomesrs730882242
hgdprs730882242
ensemblrs730882242
gopubmedrs730882242
geneviewrs730882242
scholarrs730882242
googlers730882242
pharmgkbrs730882242
gwascentralrs730882242
openSNPrs730882242
23andMers730882242
23andMe allrs730882242
SNP Nexus

SNPshotrs730882242
SNPdbers730882242
MSV3drs730882242
GWAS Ctlgrs730882242
Max Magnitude0
ClinVar
Risk rs730882242(T;T)
Alt rs730882242(T;T)
Reference rs730882242(C;C)
Significance Pathogenic
Disease Failure to thrive Global developmental delay Microcephaly Seizure disorder Seizures
Variation info
Gene DIAPH1
CLNDBN Failure to thrive Global developmental delay Microcephaly Seizure disorder Seizures, cortical blindness, and microcephaly syndrome
Reversed 1
HGVS NC_000005.9:g.140953085G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000162177.1, RCV000201793.1,