rs747165335, WDR19

N. diseases: 5
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.
Jeune thoracic dystrophy
CUI: C0265275
Disease: Jeune thoracic dystrophy
115 0.882 0.200 4 39278156 frameshift variant ACGG/- delins 8.4E-06 0.700 0
Nephronophthisis
CUI: C0687120
Disease: Nephronophthisis
101 0.882 0.200 4 39278156 frameshift variant ACGG/- delins 8.4E-06 0.700 0
Short long bone
CUI: C1854912
Disease: Short long bone
19 0.882 0.200 4 39278156 frameshift variant ACGG/- delins 8.4E-06 0.700 0
Short ribs
CUI: C0426817
Disease: Short ribs
27 0.882 0.200 4 39278156 frameshift variant ACGG/- delins 8.4E-06 0.700 0
Thoracic hypoplasia
CUI: C1837482
Disease: Thoracic hypoplasia
16 0.882 0.200 4 39278156 frameshift variant ACGG/- delins 8.4E-06 0.700 0