Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv 306
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 246
rs1695
GSTP1
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 188
rs699
AGT
0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 134
rs61750420
PEX1
0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 52
rs780533096
MIPEP
0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06 44
rs866294686
TRIM8 ; LOC105378460
0.683 0.480 10 102657073 stop gained C/A;T snv 43
rs1232880706
FBN1
0.689 0.440 15 48526247 stop gained C/A;T snv 36
rs1563183492
AUTS2
0.708 0.520 7 70766248 missense variant C/T snv 32
rs66527965
COL1A1
0.763 0.240 17 50193038 missense variant C/A;T snv 31
rs137854889
ZMPSTE24
0.742 0.440 1 40290871 frameshift variant T/-;TT delins 31
rs6471
CYP21A2
0.683 0.360 6 32040110 missense variant G/A;C;T snv 1.2E-05; 5.3E-03 24
rs776746
CYP3A5 ; ZSCAN25
0.724 0.400 7 99672916 splice acceptor variant T/C snv 0.72 21
rs523349
SRD5A2
0.689 0.440 2 31580636 missense variant G/A;C;T snv 0.66; 4.9E-06 21
rs1247665387
FA2H
0.807 0.360 16 74774623 missense variant C/A snv 7.0E-06 14
rs1177506410
AGT
0.776 0.240 1 230706148 missense variant G/C snv 4.0E-06 7.0E-06 12
rs1275805226
AGT
0.776 0.240 1 230706148 frameshift variant G/- del 7.0E-06 12
rs2740574
CYP3A4
0.807 0.360 7 99784473 upstream gene variant C/T snv 0.78 12
rs2016347
IGF1R
0.790 0.160 15 98960571 3 prime UTR variant G/A;T snv 9
rs370402227
NOS3
0.925 0.120 7 150996443 missense variant G/A;C snv 1.1E-05 4
rs11119982
ATF3
1.000 0.080 1 212591502 intron variant C/T snv 0.40 1