Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs80356711
PRNP
1.000 20 4699698 stop gained C/T snv 4
rs113993956
MYH14
1.000 19 50268255 missense variant G/A;T snv 6.2E-04 3
rs143473232
HARS1
1.000 5 140679789 missense variant G/A;C snv 4.0E-06 3
rs11974610
GJC3
7 99930354 intron variant G/A snv 0.30 2
rs12521798
LOC105379048
5 79890115 intergenic variant T/C snv 0.21 2
rs12568757
CTSS
1 150757317 intron variant G/A snv 0.42 2
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
rs1474642
PSMB1
6 170543473 intron variant A/G snv 0.13 2
rs17748074
DCC
18 52420925 intron variant A/G;T snv 2
rs2242578
GLI1
12 57459370 non coding transcript exon variant G/A;C snv 2
rs3750898
DCLRE1A ; LOC107984271
10 113850156 missense variant C/A;G snv 4.0E-06; 0.77 2
rs3887412
ABCC1
16 16081173 intron variant A/T snv 0.25 2
rs492338
ABCG1
21 42281867 intron variant A/G snv 0.52 2
rs6552496 4 181371930 intergenic variant C/A snv 0.52 2
rs8060632
CDH13
16 83591958 intron variant A/C snv 0.68 2
rs916758
DYNC1I1
7 96096624 intron variant A/G snv 0.20 2
rs28937569
HSPB1
1.000 0.040 7 76304100 missense variant C/T snv 3
rs104894351
HSPB8 ; LOC107984440
0.827 0.080 12 119187078 missense variant A/C;G snv 7
rs121909112
HSPB1
0.882 0.080 7 76303855 missense variant C/G snv 7
rs397515323
PDK3
0.851 0.080 X 24503479 missense variant G/A snv 7
rs104894345
LOC107984440 ; HSPB8
0.827 0.080 12 119187080 missense variant G/C;T snv 6
rs281865128
MPZ
0.882 0.080 1 161306426 missense variant C/G;T snv 5
rs74315321
GJB3 ; SMIM12 ; LOC105378642
0.882 0.080 1 34784887 missense variant G/A;C snv 1.2E-05 5