rs1057518764, DLX3

N. diseases: 6
Source: ALL
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.
Abnormality of the hair
CUI: C0157733
Disease: Abnormality of the hair
1 0.827 0.200 17 49991807 frameshift variant C/-;CC delins 0.700 0
Amelogenesis Imperfecta
CUI: C0002452
Disease: Amelogenesis Imperfecta
24 0.827 0.200 17 49991807 frameshift variant C/-;CC delins 0.700 0
Amelogenesis Imperfecta, Type IV
CUI: C1863012
Disease: Amelogenesis Imperfecta, Type IV
3 0.827 0.200 17 49991807 frameshift variant C/-;CC delins 0.700 0
Peripheral pulmonary artery stenosis
CUI: C0345030
Disease: Peripheral pulmonary artery stenosis
3 0.827 0.200 17 49991807 frameshift variant C/-;CC delins 0.700 0
Taurodontism
CUI: C0266039
Disease: Taurodontism
10 0.827 0.200 17 49991807 frameshift variant C/-;CC delins 0.700 0
Tricho-dento-osseous syndrome (disorder)
CUI: C0265333
Disease: Tricho-dento-osseous syndrome (disorder)
5 0.827 0.200 17 49991807 frameshift variant C/-;CC delins 0.700 0