rs201948500, DYNC2LI1

N. diseases: 4
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
11 0.882 0.120 2 43794485 missense variant C/G snv 2.4E-05 4.9E-05 0.800 1.000 2 2015 2015
Asphyxiating Thoracic Dystrophy 1
CUI: C4551856
Disease: Asphyxiating Thoracic Dystrophy 1
11 0.882 0.120 2 43794485 missense variant C/G snv 2.4E-05 4.9E-05 0.700 0
Polydactyly
CUI: C0152427
Disease: Polydactyly
43 0.882 0.120 2 43794485 missense variant C/G snv 2.4E-05 4.9E-05 0.700 0
Short ribs
CUI: C0426817
Disease: Short ribs
27 0.882 0.120 2 43794485 missense variant C/G snv 2.4E-05 4.9E-05 0.700 0