rs200455852, ASAH1

N. diseases: 6
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.
Jankovic Rivera syndrome
CUI: C1834569
Disease: Jankovic Rivera syndrome
4 0.851 0.200 8 18064458 missense variant T/C;G snv 5.8E-05 0.710 1.000 1 2017 2017
Cerebral cortex myoclonus
CUI: C3698239
Disease: Cerebral cortex myoclonus
1 0.851 0.200 8 18064458 missense variant T/C;G snv 5.8E-05 0.700 0
Epilepsy, Generalized
CUI: C0014548
Disease: Epilepsy, Generalized
36 0.851 0.200 8 18064458 missense variant T/C;G snv 5.8E-05 0.700 0
Progressive neurologic deterioration
5 0.851 0.200 8 18064458 missense variant T/C;G snv 5.8E-05 0.700 0
Sensorineural Hearing Loss (disorder)
111 0.851 0.200 8 18064458 missense variant T/C;G snv 5.8E-05 0.700 0
Tremor
CUI: C0040822
Disease: Tremor
52 0.851 0.200 8 18064458 missense variant T/C;G snv 5.8E-05 0.700 0