rs768165720, HESX1

N. diseases: 2
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.
Septo-Optic Dysplasia
CUI: C0338503
Disease: Septo-Optic Dysplasia
19 0.925 0.120 3 57198784 missense variant C/T snv 7.6E-05 1.1E-04 0.700 0
Panhypopituitarism
CUI: C0242343
Disease: Panhypopituitarism
23 0.925 0.120 3 57198784 missense variant C/T snv 7.6E-05 1.1E-04 0.010 1.000 1 2017 2017