rs1553907440, WDR19

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.
SENIOR-LOKEN SYNDROME 8
CUI: C4225376
Disease: SENIOR-LOKEN SYNDROME 8
15 0.925 4 39215958 frameshift variant G/- delins 0.700 0
SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY
CUI: C3280598
Disease: SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY
5 0.925 4 39215958 frameshift variant G/- delins 0.700 0