CTSD, cathepsin D, 1509

N. diseases: 242; N. variants: 13
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: rs17571
rs17571
0.827 0.120 11 1761364 missense variant G/A snv 7.0E-02 6.2E-02
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.080 1.000 8 2003 2018
dbSNP: rs1366541089
rs1366541089
1.000 0.080 11 1754930 missense variant G/A snv 7.0E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.040 0.500 4 2004 2015
dbSNP: rs1369330655
rs1369330655
0.925 0.080 11 1761421 missense variant A/G snv 7.0E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2003 2003