WDR19, WD repeat domain 19, 57728

N. diseases: 143; N. variants: 31
Disease: NEPHRONOPHTHISIS 13 ×
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: rs387906983
rs387906983 		1.000 4 39215913 missense variant T/G snv
CUI: C3280612
Disease: NEPHRONOPHTHISIS 13
NEPHRONOPHTHISIS 13 		0.800 1.000 1 2011 2011
dbSNP: rs79436363
rs79436363 		0.882 4 39273029 missense variant G/A snv 5.5E-05 1.5E-04
CUI: C3280612
Disease: NEPHRONOPHTHISIS 13
NEPHRONOPHTHISIS 13 		0.700 1.000 3 2013 2016
dbSNP: rs748656635
rs748656635 		0.882 0.120 4 39205626 frameshift variant -/A delins 3.6E-05 4.2E-05
CUI: C3280612
Disease: NEPHRONOPHTHISIS 13
NEPHRONOPHTHISIS 13 		0.700 1.000 2 2013 2013
dbSNP: rs587777350
rs587777350 		1.000 4 39205232 stop gained C/T snv
CUI: C3280612
Disease: NEPHRONOPHTHISIS 13
NEPHRONOPHTHISIS 13 		0.700 0
dbSNP: rs587777351
rs587777351 		0.925 4 39274945 missense variant G/A snv 1.6E-05 7.0E-06
CUI: C3280612
Disease: NEPHRONOPHTHISIS 13
NEPHRONOPHTHISIS 13 		0.700 0
dbSNP: rs786205114
rs786205114 		1.000 4 39255913 stop gained -/A delins
CUI: C3280612
Disease: NEPHRONOPHTHISIS 13
NEPHRONOPHTHISIS 13 		0.700 0