Gene: FXN ×
Source: BEFREE ×
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104894107
rs104894107
FXN
5 0.882 0.160 9 69064942 missense variant G/C;T snv 3.6E-05; 2.8E-05 0.020 1.000 2 2002 2008
dbSNP: rs104894105
rs104894105
FXN
1 0.925 0.120 9 69053193 stop gained T/C;G snv 1.2E-05 0.010 1.000 1 2014 2014
dbSNP: rs104894106
rs104894106
FXN
2 0.925 0.120 9 69065013 missense variant A/G;T snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs1336452397
rs1336452397
FXN
1 1.000 0.120 9 69053191 frameshift variant TT/-;T delins 0.010 1.000 1 2014 2014
dbSNP: rs138471431
rs138471431
FXN
2 0.925 0.120 9 69065016 missense variant T/C snv 0.010 1.000 1 2008 2008
dbSNP: rs142157346
rs142157346
FXN
3 0.882 0.160 9 69053240 missense variant G/T snv 0.010 1.000 1 2008 2008
dbSNP: rs143396368
rs143396368
FXN
7 0.807 0.200 9 69072623 missense variant G/A;C snv 3.2E-05; 8.0E-06 0.010 1.000 1 2014 2014