WDR60, WD repeat domain 60, 55112

N. diseases: 91; N. variants: 12
Disease: Saldino-Noonan Syndrome ×
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: 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: 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: 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