rs1558005340, ATP1A2

N. diseases: 4
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.
Arthrogryposis
CUI: C0003886
Disease: Arthrogryposis
33 0.851 0.280 1 160127638 frameshift variant C/- del 0.700 1.000 1 2020 2020
Epilepsy
CUI: C0014544
Disease: Epilepsy
339 0.851 0.280 1 160127638 frameshift variant C/- del 0.700 1.000 1 2020 2020
Hydrops Fetalis
CUI: C0020305
Disease: Hydrops Fetalis
14 0.851 0.280 1 160127638 frameshift variant C/- del 0.700 1.000 1 2020 2020
Malformations of Cortical Development, Group II
CUI: C1837249
Disease: Malformations of Cortical Development, Group II
101 0.851 0.280 1 160127638 frameshift variant C/- del 0.700 1.000 1 2020 2020