rs769975073, DYNC2LI1

N. diseases: 4
Source: CLINVAR ×
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.
Asphyxiating Thoracic Dystrophy 1
CUI: C4551856
Disease: Asphyxiating Thoracic Dystrophy 1
11 0.882 0.120 2 43794508 stop gained G/A snv 6.0E-05 7.0E-06 0.700 0
Polydactyly
CUI: C0152427
Disease: Polydactyly
37 0.882 0.120 2 43794508 stop gained G/A snv 6.0E-05 7.0E-06 0.700 0
Short ribs
CUI: C0426817
Disease: Short ribs
27 0.882 0.120 2 43794508 stop gained G/A snv 6.0E-05 7.0E-06 0.700 0
SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY
CUI: C4310724
Disease: SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY
11 0.882 0.120 2 43794508 stop gained G/A snv 6.0E-05 7.0E-06 0.700 0