Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs104894345
LOC107984440 ; HSPB8
0.827 0.080 12 119187080 missense variant G/C;T snv 6
rs104894351
HSPB8 ; LOC107984440
0.827 0.080 12 119187078 missense variant A/C;G snv 7
rs104894619
PMP22
0.827 0.120 17 15231047 missense variant G/A snv 4.0E-03 3.7E-03 9
rs104894664
TTR
0.882 0.120 18 31592959 missense variant G/A snv 6
rs1050450
GPX1
0.623 0.600 3 49357401 missense variant G/A snv 0.28 0.30 43
rs113993956
MYH14
1.000 19 50268255 missense variant G/A;T snv 6.2E-04 3
rs113994097
POLG
0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04 22
rs11541796
TTR
0.807 0.280 18 31593011 missense variant A/G snv 9
rs116840778
SSUH2 ; CAV3
0.882 0.200 3 8733956 missense variant G/A;C snv 7
rs119103263
MFN2
0.827 0.240 1 11992659 missense variant C/T snv 19
rs11974610
GJC3
7 99930354 intron variant G/A snv 0.30 2
rs121434508
TMEM126A
1.000 0.120 11 85654139 stop gained C/T snv 3.2E-05 1.4E-05 3
rs121909112
HSPB1
0.882 0.080 7 76303855 missense variant C/G snv 7
rs121918068
TTR
0.882 0.200 18 31592983 missense variant T/A;C snv 6
rs121918094
TTR
0.827 0.280 18 31592921 missense variant T/C snv 8
rs121918100
TTR
0.827 0.160 18 31595184 missense variant T/C snv 11
rs12521798
LOC105379048
5 79890115 intergenic variant T/C snv 0.21 2
rs12568757
CTSS
1 150757317 intron variant G/A snv 0.42 2
rs12786200
FAT3
1.000 0.120 11 92245852 intergenic variant C/T snv 0.22 3
rs1279417718
YARS1
1 32806493 missense variant G/T snv 4.0E-06 7.0E-06 2
rs1330512770
EGFR
7 55161592 missense variant G/A snv 1.2E-05 2
rs1413239
DPYD-AS1 ; DPYD
1 97221459 intron variant C/T snv 0.41 2
rs141672872
ATXN3
1.000 0.080 14 92083151 missense variant C/T snv 6.8E-05 1.3E-04 2
rs1418474769
GJC2
1.000 0.080 1 228157761 start lost G/T snv 3
rs143473232
HARS1
1.000 5 140679789 missense variant G/A;C snv 4.0E-06 3