WDR60, WD repeat domain 60, 55112

N. diseases: 91; N. variants: 12
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: rs587777065
rs587777065 		1.000 7 158923722 missense variant C/T snv 2.1E-05
CUI: C3809691
Disease: SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY 		0.800 1.000 2 2013 2015
dbSNP: rs2730245
rs2730245 		7 158932098 intron variant G/A;C snv
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2008 2008
dbSNP: rs2730245
rs2730245 		7 158932098 intron variant G/A;C snv
CUI: C0489786
Disease: Height
Height 		0.700 1.000 1 2008 2008
dbSNP: rs1456300819
rs1456300819 		1.000 0.080 7 158926213 stop gained C/T snv 1.4E-05
CUI: C0036069
Disease: Saldino-Noonan Syndrome
Saldino-Noonan Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1554460624
rs1554460624 		1.000 7 158902398 frameshift variant T/- delins
CUI: C3809691
Disease: SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY 		0.700 0
dbSNP: rs1554478948
rs1554478948 		1.000 0.080 7 158930469 inframe insertion -/AGG delins
CUI: C0036069
Disease: Saldino-Noonan Syndrome
Saldino-Noonan Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs193204571
rs193204571 		0.925 0.120 7 158926234 missense variant G/A snv 4.0E-05
CUI: C0036069
Disease: Saldino-Noonan Syndrome
Saldino-Noonan Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs193204571
rs193204571 		0.925 0.120 7 158926234 missense variant G/A snv 4.0E-05
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs202111347
rs202111347 		1.000 7 158869908 stop gained G/A snv 3.4E-04 1.8E-04
CUI: C3809691
Disease: SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY 		0.700 0
dbSNP: rs587777064
rs587777064 		1.000 7 158918839 stop gained C/G;T snv
CUI: C3809691
Disease: SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY 		0.700 0
dbSNP: rs587777066
rs587777066 		1.000 7 158914230 splice region variant T/A;C snv 8.3E-06; 4.2E-06; 4.2E-06
CUI: C3809691
Disease: SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY 		0.700 0
dbSNP: rs748645101
rs748645101 		1.000 0.080 7 158941987 frameshift variant G/- del 4.0E-05 7.0E-06
CUI: C0036069
Disease: Saldino-Noonan Syndrome
Saldino-Noonan Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs766663693
rs766663693 		1.000 7 158902559 stop gained C/A;T snv 8.0E-06
CUI: C3809691
Disease: SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY 		0.700 0
dbSNP: rs2788478
rs2788478 		1.000 0.040 7 158879928 missense variant A/G;T snv 0.44
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2017 2017