Disease: Opitz-G syndrome, type 2 ×
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: rs786201030
rs786201030 		0.925 0.160 22 24322169 missense variant A/C snv
CUI: C1801950
Disease: Opitz-G syndrome, type 2
Opitz-G syndrome, type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases 0.800 1.000 1 2015 2015
dbSNP: rs786201031
rs786201031 		0.925 0.280 22 24412690 missense variant G/A snv 8.0E-06 1.4E-05
CUI: C1801950
Disease: Opitz-G syndrome, type 2
Opitz-G syndrome, type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases 0.800 1.000 1 2015 2015
dbSNP: rs1556226291
rs1556226291 		1.000 0.160 22 24322272 missense variant T/C snv
CUI: C1801950
Disease: Opitz-G syndrome, type 2
Opitz-G syndrome, type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases 0.700 0