Disease: FRIEDREICH ATAXIA 1
Source: BEFREE ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1800562
LOC108783645 ; HFE
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 230
rs1799945
LOC108783645 ; HFE
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 201
rs143396368
FXN
0.807 0.200 9 69072623 missense variant G/A;C snv 3.2E-05; 8.0E-06 7
rs104894106
FXN
0.925 0.120 9 69065013 missense variant A/G;T snv 4.0E-06 2
rs138471431
FXN
0.925 0.120 9 69065016 missense variant T/C snv 2