CLUAP1, clusterin associated protein 1, 23059

N. diseases: 18; N. variants: 5
Disease: Familial aplasia of the vermis ×
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: rs768663992
rs768663992 		0.882 0.160 16 3508407 missense variant T/G snv 1.3E-05 4.2E-05
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases 0.700 1.000 1 2017 2017
dbSNP: rs769705065
rs769705065 		0.882 0.160 16 3520011 stop gained C/T snv 7.0E-06
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases 0.700 1.000 1 2017 2017