rs1559307932, PDE6D

N. diseases: 8
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.
Familial aplasia of the vermis
CUI: C0431399
Disease: Familial aplasia of the vermis
187 0.807 0.360 2 231737190 frameshift variant -/C ins 0.700 0
Hypoplasia of corpus callosum
CUI: C0344482
Disease: Hypoplasia of corpus callosum
49 0.807 0.360 2 231737190 frameshift variant -/C ins 0.700 0
Infantile axial hypotonia
CUI: C3806604
Disease: Infantile axial hypotonia
8 0.807 0.360 2 231737190 frameshift variant -/C ins 0.700 0
JOUBERT SYNDROME 22
CUI: C3810278
Disease: JOUBERT SYNDROME 22
2 0.807 0.360 2 231737190 frameshift variant -/C ins 0.700 0
Molar tooth sign on MRI
CUI: C1865060
Disease: Molar tooth sign on MRI
7 0.807 0.360 2 231737190 frameshift variant -/C ins 0.700 0
Oculomotor apraxia
CUI: C3489733
Disease: Oculomotor apraxia
14 0.807 0.360 2 231737190 frameshift variant -/C ins 0.700 0
Temporal cortical atrophy
CUI: C4024936
Disease: Temporal cortical atrophy
2 0.807 0.360 2 231737190 frameshift variant -/C ins 0.700 0
Ulnar polydactyly of fingers
CUI: C0431904
Disease: Ulnar polydactyly of fingers
11 0.807 0.360 2 231737190 frameshift variant -/C ins 0.700 0