rs770155116, DYNC2LI1

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.
SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY
CUI: C4310724
Disease: SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY
11 0.925 0.120 2 43794554 frameshift variant A/- delins 1.6E-05 2.8E-05 0.700 0
Ellis-Van Creveld Syndrome
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
121 0.925 0.120 2 43794554 frameshift variant A/- delins 1.6E-05 2.8E-05 0.010 1.000 1 2018 2018