rs113993970, HTRA1

N. diseases: 5
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.
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
CUI: C1838577
Disease: Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
11 0.925 0.240 10 122506817 stop gained C/T snv 8.0E-06 3.5E-05 0.700 1.000 1 2009 2009
Cerebral Small Vessel Diseases
CUI: C2733158
Disease: Cerebral Small Vessel Diseases
6 0.925 0.240 10 122506817 stop gained C/T snv 8.0E-06 3.5E-05 0.700 0
Impaired cognition
CUI: C0338656
Disease: Impaired cognition
348 0.925 0.240 10 122506817 stop gained C/T snv 8.0E-06 3.5E-05 0.700 0
Personality Change
CUI: C0240735
Disease: Personality Change
6 0.925 0.240 10 122506817 stop gained C/T snv 8.0E-06 3.5E-05 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.925 0.240 10 122506817 stop gained C/T snv 8.0E-06 3.5E-05 0.700 0