rs28939068, CST3

N. diseases: 9
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
AURAL ATRESIA, CONGENITAL
CUI: C1842937
Disease: AURAL ATRESIA, CONGENITAL
29 0.790 0.200 20 23635330 missense variant A/T snv 0.010 1.000 1 2008 2008
Cerebral Amyloid Angiopathy, Hereditary
4 0.790 0.200 20 23635330 missense variant A/T snv 0.010 1.000 1 1998 1998
Decreased Concentration
CUI: C3899403
Disease: Decreased Concentration
1 0.790 0.200 20 23635330 missense variant A/T snv 0.010 1.000 1 1998 1998
Male infertility
CUI: C0021364
Disease: Male infertility
146 0.790 0.200 20 23635330 missense variant A/T snv 0.010 1.000 1 2014 2014
Cerebral Amyloid Angiopathy
CUI: C0085220
Disease: Cerebral Amyloid Angiopathy
22 0.790 0.200 20 23635330 missense variant A/T snv 0.020 1.000 2 2000 2008
Plaque, Amyloid
CUI: C2936349
Disease: Plaque, Amyloid
10 0.790 0.200 20 23635330 missense variant A/T snv 0.020 1.000 2 2002 2004
Amyloidosis
CUI: C0002726
Disease: Amyloidosis
93 0.790 0.200 20 23635330 missense variant A/T snv 0.030 1.000 3 1994 2018
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type
2 0.790 0.200 20 23635330 missense variant A/T snv 0.810 0.750 4 1989 2010
Hereditary cystatin C amyloid angiopathy
1 0.790 0.200 20 23635330 missense variant A/T snv 0.090 1.000 9 1994 2018