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rs730882245

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs730882245(A;A)
Make rs730882245(A;T)
ReferenceGRCh38.p2 38.2/144
Chromosome4
Position122207168
GeneKIAA1109
is asnp
is mentioned by
dbSNPrs730882245
ebirs730882245
HLIrs730882245
Exacrs730882245
Varsomers730882245
Maprs730882245
PheGenIrs730882245
hapmaprs730882245
1000 genomesrs730882245
hgdprs730882245
ensemblrs730882245
gopubmedrs730882245
geneviewrs730882245
scholarrs730882245
googlers730882245
pharmgkbrs730882245
gwascentralrs730882245
openSNPrs730882245
23andMers730882245
23andMe allrs730882245
SNP Nexus

SNPshotrs730882245
SNPdbers730882245
MSV3drs730882245
GWAS Ctlgrs730882245
Max Magnitude0
ClinVar
Risk rs730882245(A;A)
Alt rs730882245(A;A)
Reference rs730882245(T;T)
Significance Probable-Pathogenic
Disease Dandy-Walker malformation Flexed deformity Hydrocephalus Micrognathia Pleural effusion Talipes equinovarus
Variation info
Gene KIAA1109
CLNDBN Dandy-Walker malformation Flexed deformity Hydrocephalus Micrognathia Pleural effusion Talipes equinovarus
Reversed 0
HGVS NC_000004.11:g.123128323T>A
CLNSRC
CLNACC RCV000162181.1,