Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs6552496 4 181371930 intergenic variant C/A snv 0.52 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
rs141672872
ATXN3
1.000 0.080 14 92083151 missense variant C/T snv 6.8E-05 1.3E-04 2
rs762622537
ATXN3
1.000 0.080 14 92081048 missense variant G/C snv 4.0E-06 2
rs8060632
CDH13
16 83591958 intron variant A/C snv 0.68 2
rs12568757
CTSS
1 150757317 intron variant G/A snv 0.42 2
rs17748074
DCC
18 52420925 intron variant A/G;T snv 2
rs3750898
DCLRE1A ; LOC107984271
10 113850156 missense variant C/A;G snv 4.0E-06; 0.77 2
rs1413239
DPYD-AS1 ; DPYD
1 97221459 intron variant C/T snv 0.41 2
rs916758
DYNC1I1
7 96096624 intron variant A/G snv 0.20 2
rs1330512770
EGFR
7 55161592 missense variant G/A snv 1.2E-05 2
rs11974610
GJC3
7 99930354 intron variant G/A snv 0.30 2
rs2242578
GLI1
12 57459370 non coding transcript exon variant G/A;C snv 2
rs12521798
LOC105379048
5 79890115 intergenic variant T/C snv 0.21 2
rs1474642
PSMB1
6 170543473 intron variant A/G snv 0.13 2
rs1279417718
YARS1
1 32806493 missense variant G/T snv 4.0E-06 7.0E-06 2
rs17032980 1.000 0.120 2 67075611 intergenic variant A/G snv 0.25 3
rs4463516 1.000 0.120 9 32867483 intron variant G/C;T snv 3
rs12786200
FAT3
1.000 0.120 11 92245852 intergenic variant C/T snv 0.22 3
rs74315317
GJB3 ; SMIM12 ; LOC105378642
1.000 0.080 1 34785018 missense variant T/A;C snv 4.0E-06 3
rs1418474769
GJC2
1.000 0.080 1 228157761 start lost G/T snv 3
rs2228224
GLI1
1.000 0.120 12 57471538 missense variant G/A snv 0.50 0.48 3
rs1858826
GNGT1
1.000 0.080 7 93719703 intron variant C/T snv 0.90 3
rs143473232
HARS1
1.000 5 140679789 missense variant G/A;C snv 4.0E-06 3