rs771148519, WDR19

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.
Brachydactyly
CUI: C0221357
Disease: Brachydactyly
43 0.807 0.200 4 39225027 stop gained C/G snv 1.7E-05 1.4E-05 0.700 0
Cranioectodermal dysplasia
CUI: C4551571
Disease: Cranioectodermal dysplasia
22 0.807 0.200 4 39225027 stop gained C/G snv 1.7E-05 1.4E-05 0.700 0
Craniosynostosis
CUI: C0010278
Disease: Craniosynostosis
90 0.807 0.200 4 39225027 stop gained C/G snv 1.7E-05 1.4E-05 0.700 0
Long narrow head
CUI: C0221358
Disease: Long narrow head
26 0.807 0.200 4 39225027 stop gained C/G snv 1.7E-05 1.4E-05 0.700 0
Nephronophthisis
CUI: C0687120
Disease: Nephronophthisis
103 0.807 0.200 4 39225027 stop gained C/G snv 1.7E-05 1.4E-05 0.700 0
Short long bone
CUI: C1854912
Disease: Short long bone
19 0.807 0.200 4 39225027 stop gained C/G snv 1.7E-05 1.4E-05 0.700 0
Short ribs
CUI: C0426817
Disease: Short ribs
27 0.807 0.200 4 39225027 stop gained C/G snv 1.7E-05 1.4E-05 0.700 0
Sparse hair
CUI: C1837770
Disease: Sparse hair
9 0.807 0.200 4 39225027 stop gained C/G snv 1.7E-05 1.4E-05 0.700 0
Thoracic hypoplasia
CUI: C1837482
Disease: Thoracic hypoplasia
16 0.807 0.200 4 39225027 stop gained C/G snv 1.7E-05 1.4E-05 0.700 0