Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2637678 6 116466215 upstream gene variant T/C snv 0.36 1
rs2858317 6 32694503 intergenic variant C/A snv 0.41 1
rs4642516 6 32689766 TF binding site variant G/A;T snv 1
rs2746419
AHI1
6 135332717 intron variant A/C snv 0.46 1
rs59882675
BTC
4 74763902 intron variant A/G snv 0.23 1
rs16946160
GPC5
13 91551559 intron variant G/A snv 0.13 1
rs9273542
HLA-DQB1 ; HLA-DQB1-AS1
6 32661035 intron variant C/A;T snv 1
rs28366266
HLA-DRB1
6 32591976 upstream gene variant T/C snv 0.12 1
rs487575
LOC105374264
3 187880609 intergenic variant C/T snv 0.23 1
rs4431401
NT5E
6 85479802 intron variant T/C snv 0.46 1
rs10518133
PARM1
4 75025495 intron variant G/A snv 9.7E-02 1
rs201899638
PTPRD
9 9932324 intron variant T/C;G snv 1
rs6020178
SNAI1
20 49987403 intron variant T/C snv 0.35 1
rs9348883
TSBP1-AS1 ; HCG23
6 32390772 non coding transcript exon variant T/A;G snv 1
rs2858829 1.000 0.040 6 116447754 intron variant A/G snv 0.33 2
rs1569504068
COL4A5
1.000 X 108655388 frameshift variant G/- del 2
rs397514479
ENTPD5 ; COQ6
1.000 14 73961339 missense variant C/A snv 2
rs1063348
HLA-DQB1-AS1 ; HLA-DQB1
1.000 0.080 6 32660146 3 prime UTR variant A/G snv 0.43 2
rs2222722
LINC00472 ; MIR30A
1.000 0.080 6 71404009 intron variant G/A snv 0.29 2
rs267606919
NPHS1
1.000 0.080 19 35831056 stop gained G/A snv 9.9E-05 2
rs437168
NPHS1
1.000 0.080 19 35843517 synonymous variant G/A;C snv 7.9E-02; 1.2E-05 2
rs9444348
NT5E
6 85465856 intron variant G/A snv 0.43 2
rs139994842
NOTCH1
0.925 0.040 9 136508308 missense variant G/A;C snv 1.5E-03 3
rs267606954
PLCE1
1.000 0.080 10 94032007 stop gained C/T snv 2.4E-05 3
rs1437439236
SGPL1
0.925 0.080 10 70871945 missense variant C/T snv 8.0E-06 3