Disease: Cryptophthalmos 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: rs730882180
rs730882180 		0.925 0.200 4 78472331 splice donor variant G/T snv 4.2E-06
CUI: C0265233
Disease: Cryptophthalmos syndrome
Cryptophthalmos syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Musculoskeletal Diseases; Male Urogenital Diseases 0.700 0
dbSNP: rs755750961
rs755750961 		1.000 0.200 4 78364051 stop gained C/T snv 7.0E-06
CUI: C0265233
Disease: Cryptophthalmos syndrome
Cryptophthalmos syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Musculoskeletal Diseases; Male Urogenital Diseases 0.700 0
dbSNP: rs758310028
rs758310028 		1.000 0.200 4 78445773 missense variant G/A snv 4.4E-06
CUI: C0265233
Disease: Cryptophthalmos syndrome
Cryptophthalmos syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Musculoskeletal Diseases; Male Urogenital Diseases 0.010 1.000 1 2018 2018