WDR73, WD repeat domain 73, 84942

N. diseases: 98; N. variants: 13
Disease: GALLOWAY-MOWAT SYNDROME 1 ×
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: rs727502864
rs727502864 		1.000 0.240 15 84645587 frameshift variant -/G delins 7.0E-06
CUI: C4551772
Disease: GALLOWAY-MOWAT SYNDROME 1
GALLOWAY-MOWAT SYNDROME 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs727502863
rs727502863 		1.000 0.240 15 84652783 stop gained A/C snv
CUI: C4551772
Disease: GALLOWAY-MOWAT SYNDROME 1
GALLOWAY-MOWAT SYNDROME 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases 0.700 0
dbSNP: rs754099015
rs754099015 		1.000 0.240 15 84643568 missense variant G/A snv 4.1E-06
CUI: C4551772
Disease: GALLOWAY-MOWAT SYNDROME 1
GALLOWAY-MOWAT SYNDROME 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases 0.700 0
dbSNP: rs767086146
rs767086146 		1.000 0.240 15 84646300 frameshift variant TC/- delins 7.0E-06
CUI: C4551772
Disease: GALLOWAY-MOWAT SYNDROME 1
GALLOWAY-MOWAT SYNDROME 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases 0.700 0
dbSNP: rs797044992
rs797044992 		1.000 0.240 15 84645651 stop gained G/A snv 4.3E-06 2.1E-05
CUI: C4551772
Disease: GALLOWAY-MOWAT SYNDROME 1
GALLOWAY-MOWAT SYNDROME 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases 0.700 0
dbSNP: rs797044993
rs797044993 		1.000 0.240 15 84653673 missense variant A/T snv
CUI: C4551772
Disease: GALLOWAY-MOWAT SYNDROME 1
GALLOWAY-MOWAT SYNDROME 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases 0.700 0
dbSNP: rs797044994
rs797044994 		1.000 0.240 15 84643667 stop gained G/A snv
CUI: C4551772
Disease: GALLOWAY-MOWAT SYNDROME 1
GALLOWAY-MOWAT SYNDROME 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases 0.700 0
dbSNP: rs797044995
rs797044995 		1.000 0.240 15 84648537 missense variant C/G;T snv 4.0E-06
CUI: C4551772
Disease: GALLOWAY-MOWAT SYNDROME 1
GALLOWAY-MOWAT SYNDROME 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases 0.700 0
dbSNP: rs863223396
rs863223396 		1.000 0.240 15 84647949 missense variant A/G snv
CUI: C4551772
Disease: GALLOWAY-MOWAT SYNDROME 1
GALLOWAY-MOWAT SYNDROME 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases 0.700 0
dbSNP: rs866551482
rs866551482 		1.000 0.240 15 84645587 missense variant C/T snv
CUI: C4551772
Disease: GALLOWAY-MOWAT SYNDROME 1
GALLOWAY-MOWAT SYNDROME 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases 0.700 0
dbSNP: rs869320712
rs869320712 		1.000 0.240 15 84643719 frameshift variant A/- delins
CUI: C4551772
Disease: GALLOWAY-MOWAT SYNDROME 1
GALLOWAY-MOWAT SYNDROME 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases 0.700 0