rs878853162, TUBB

N. diseases: 4
Source: INFERRED ×
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Congenital cataract
CUI: C0009691
Disease: Congenital cataract
0.851 0.320 6 30723724 missense variant C/T snv 0.700 0
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6
CUI: C4014283
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6
0.851 0.320 6 30723724 missense variant C/T snv 0.700 0
Moderate intellectual disability
CUI: C0026351
Disease: Moderate intellectual disability
0.851 0.320 6 30723724 missense variant C/T snv 0.700 0
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
0.851 0.320 6 30723724 missense variant C/T snv 0.700 0