rs1565311145, DYNC2H1

N. diseases: 7
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.
Aplasia/Hypoplasia involving the pelvis
CUI: C4024597
Disease: Aplasia/Hypoplasia involving the pelvis
13 0.882 0.120 11 103116677 stop gained T/A snv 0.700 0
Brachydactyly
CUI: C0221357
Disease: Brachydactyly
43 0.882 0.120 11 103116677 stop gained T/A snv 0.700 0
Femoral bowing
CUI: C1859461
Disease: Femoral bowing
13 0.882 0.120 11 103116677 stop gained T/A snv 0.700 0
Jeune thoracic dystrophy
CUI: C0265275
Disease: Jeune thoracic dystrophy
116 0.882 0.120 11 103116677 stop gained T/A snv 0.700 0
Short long bone
CUI: C1854912
Disease: Short long bone
19 0.882 0.120 11 103116677 stop gained T/A snv 0.700 0
Short ribs
CUI: C0426817
Disease: Short ribs
27 0.882 0.120 11 103116677 stop gained T/A snv 0.700 0
Thoracic hypoplasia
CUI: C1837482
Disease: Thoracic hypoplasia
16 0.882 0.120 11 103116677 stop gained T/A snv 0.700 0