CD59, CD59 molecule (CD59 blood group), 966

N. diseases: 262; N. variants: 7
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: rs397514767
rs397514767
0.807 0.240 11 33710247 missense variant C/T snv 4.0E-06
CUI: C2676767
Disease: CD59 Deficiency
CD59 Deficiency
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Hemic and Lymphatic Diseases 0.810 1.000 3 1992 2015
dbSNP: rs1554939509
rs1554939509
1.000 0.160 11 33710323 missense variant A/C snv
CUI: C2676767
Disease: CD59 Deficiency
CD59 Deficiency
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs587777149
rs587777149
1.000 0.160 11 33717393 frameshift variant T/- del
CUI: C2676767
Disease: CD59 Deficiency
CD59 Deficiency
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Hemic and Lymphatic Diseases 0.700 0