rs1565329461, DYNC2H1

N. diseases: 9
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 0.851 0.200 11 103135949 splice donor variant G/A snv 0.700 0
Jeune thoracic dystrophy
CUI: C0265275
Disease: Jeune thoracic dystrophy
116 0.851 0.200 11 103135949 splice donor variant G/A snv 0.700 0
Low-set, posteriorly rotated ears
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
19 0.851 0.200 11 103135949 splice donor variant G/A snv 0.700 0
Metaphyseal spurs
CUI: C1832988
Disease: Metaphyseal spurs
2 0.851 0.200 11 103135949 splice donor variant G/A snv 0.700 0
Nephronophthisis
CUI: C0687120
Disease: Nephronophthisis
103 0.851 0.200 11 103135949 splice donor variant G/A snv 0.700 0
Polydactyly
CUI: C0152427
Disease: Polydactyly
43 0.851 0.200 11 103135949 splice donor variant G/A snv 0.700 0
Short long bone
CUI: C1854912
Disease: Short long bone
19 0.851 0.200 11 103135949 splice donor variant G/A snv 0.700 0
Short ribs
CUI: C0426817
Disease: Short ribs
27 0.851 0.200 11 103135949 splice donor variant G/A snv 0.700 0
Thoracic hypoplasia
CUI: C1837482
Disease: Thoracic hypoplasia
16 0.851 0.200 11 103135949 splice donor variant G/A snv 0.700 0