Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1050316 1 156464911 3 prime UTR variant G/T snv 0.54 3
rs4909945 11 10652192 missense variant T/A;C snv 0.76 2
rs8614 17 29261788 3 prime UTR variant C/A;T snv 2
rs1011121 16 75292035 downstream gene variant A/C;G snv 1
rs10774231 12 4406208 downstream gene variant T/C snv 0.51 1
rs12740679 1 150289855 upstream gene variant C/G snv 0.25 1
rs130060 6 77463033 missense variant A/C;G snv 9.9E-03; 4.0E-06 1
rs1555132 20 32458764 intron variant C/A snv 0.44 1
rs17220352 9 116485780 intron variant A/G snv 0.21 1
rs2036465 1 39110310 intron variant A/C;G snv 1
rs2362290 2 233916724 upstream gene variant G/A snv 0.40 1
rs2895526 10 12684062 intron variant T/A;G snv 1
rs34097149 3 154545386 intergenic variant T/C snv 2.0E-02 1
rs3748784 1 96721618 upstream gene variant A/C;G snv 0.55 1
rs4596713
FXN
9 69084300 intron variant C/T snv 0.61 1
rs4941139 18 62495558 intergenic variant T/C snv 0.31 1
rs56304645 1 3168622 intron variant C/T snv 0.25 1
rs56349329 11 46673933 3 prime UTR variant G/A snv 0.14 1
rs6606710 12 109411098 intron variant T/C snv 0.50 1
rs7300001 12 110143926 intron variant A/G;T snv 1
rs7555006 1 51014586 intergenic variant A/G snv 0.48 1
rs77804065 17 45733530 splice region variant C/A;G;T snv 1
rs78438709 10 122441555 3 prime UTR variant A/G snv 5.2E-02 1
rs8192573 6 32201219 missense variant C/G;T snv 1.6E-02 1
rs9267835 6 32212846 missense variant C/A snv 1.1E-02 1.8E-02 1