Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs1801282
PPARG
0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 131
rs1805192
PPARG
0.510 0.840 3 12379739 missense variant C/G snv 121
rs4994
ADRB3
0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02 65
rs3856806
PPARG
0.637 0.440 3 12434058 synonymous variant C/T snv 0.13 0.11 41
rs776746
CYP3A5 ; ZSCAN25
0.724 0.400 7 99672916 splice acceptor variant T/C snv 0.72 21
rs35705950 0.763 0.240 11 1219991 splice region variant G/A;T snv 14
rs1443187318
AEBP1
0.882 0.080 7 44108060 stop gained -/A delins 1.3E-05 14
rs387906592
STAMBPL1 ; ACTA2
0.752 0.280 10 88941309 missense variant C/T snv 14
rs1800012
COL1A1
0.763 0.320 17 50200388 intron variant C/A snv 0.14 13
rs2280883
FOXP3
0.827 0.280 X 49252667 intron variant T/C snv 0.30 9
rs137854468
FBN1
0.851 0.160 15 48487396 missense variant C/T snv 6
rs121964971
CBS
0.851 0.160 21 43058215 missense variant G/A snv 1.2E-05 5
rs137854464
FBN1
0.851 0.200 15 48425483 missense variant C/T snv 7.0E-06 5
rs863223852
TGFBR2
0.882 0.120 3 30688476 stop gained C/A;T snv 4.0E-06 4
rs5743890
TOLLIP
0.925 0.040 11 1304599 intron variant T/C snv 9.7E-02 4
rs28940289
ETHE1
1.000 0.200 19 43511455 missense variant G/A;C snv 2.4E-05 3.5E-05 2
rs756434709
NOTCH1
9 136514670 missense variant C/T snv 2.0E-05 7.0E-06 2
rs745672741
SMAD3
1.000 15 67165247 splice region variant G/A;C snv 2
rs1553196515
COL11A1
1 102898938 splice region variant T/A snv 1
rs1555167139
COL2A1
12 47985937 missense variant C/T snv 1
rs1554787779
COL5A1
9 134728724 frameshift variant G/- del 1
rs563606558
COL5A2
2 189179604 start lost T/C snv 3.4E-05 1.4E-05 1
rs730880214
SMAD3
15 67181442 missense variant G/A snv 1