rs1562502139, FAM126A

N. diseases: 2
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.
HYPOMYELINATION AND CONGENITAL CATARACT
CUI: C1864663
Disease: HYPOMYELINATION AND CONGENITAL CATARACT
4 0.925 0.200 7 22983996 frameshift variant TT/- del 0.700 0
Spastic Paraplegia
CUI: C0037772
Disease: Spastic Paraplegia
93 0.925 0.200 7 22983996 frameshift variant TT/- del 0.700 0