WDR19, WD repeat domain 19, 57728

N. diseases: 143; N. variants: 31
Disease: Thoracic hypoplasia ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs747165335
rs747165335 		0.882 0.200 4 39278156 frameshift variant ACGG/- delins 8.4E-06
CUI: C1837482
Disease: Thoracic hypoplasia
Thoracic hypoplasia 		0.700 0
dbSNP: rs771148519
rs771148519 		0.807 0.200 4 39225027 stop gained C/G snv 1.7E-05 1.4E-05
CUI: C1837482
Disease: Thoracic hypoplasia
Thoracic hypoplasia 		0.700 0