Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1562502139
rs1562502139
FAM126A
0.925 0.200 7 22983996 frameshift variant TT/- del
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.700 0