Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs28933068
FGFR3
0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05 30
rs869025322
PIGY ; PYURF
0.925 0.040 4 88521653 missense variant A/G snv 3
rs1801394
FASTKD3 ; MTRR
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 101
rs1057519321
FBN2
0.807 0.160 5 128349391 missense variant C/A;T snv 7
rs806368
CNR1
0.752 0.280 6 88140381 3 prime UTR variant T/C snv 0.19 14
rs12720071
CNR1
0.807 0.200 6 88141462 3 prime UTR variant T/C snv 0.11 7
rs104893951
FOXC1
0.851 0.080 6 1610780 missense variant T/A;C snv 8.0E-06 5
rs1052108705
TCF19 ; POU5F1
6 31165217 missense variant C/T snv 4.1E-06 2.1E-05 3
rs768746587
TCF19 ; POU5F1
6 31165136 missense variant C/T snv 8.4E-06 3
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 246
rs121912974
POR
0.882 0.240 7 75983548 missense variant G/C snv 2.4E-04 2.2E-04 4
rs1554442016
TWIST1
0.882 0.080 7 19116972 missense variant T/A;C snv 4
rs28939086
SLC26A4
0.925 0.160 7 107690220 missense variant A/C;G snv 2.0E-04; 4.0E-06 4
rs201405525
DECR1
0.925 0.240 8 90044993 missense variant G/A;C snv 4.5E-04; 4.0E-06 3
rs137854438
FAM83H
1.000 0.080 8 143728570 stop gained A/T snv 2
rs397514698
GNAQ
0.667 0.400 9 77797577 missense variant C/T snv 52
rs1387329667
NOTCH1
9 136500595 missense variant G/A snv 2
rs756434709
NOTCH1
9 136514670 missense variant C/T snv 2.0E-05 7.0E-06 2
rs77543610
FGFR2
0.667 0.560 10 121520160 missense variant G/C snv 28
rs121918502
FGFR2
0.790 0.160 10 121517351 missense variant G/C snv 9
rs786201044
PTEN
0.827 0.200 10 87933165 missense variant T/C snv 8
rs1695
GSTP1
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 188
rs587777108
ATL3 ; LOC107984336
0.925 0.080 11 63646550 missense variant T/C snv 5
rs104894232
HYLS1 ; PUS3
0.925 0.160 11 125900000 missense variant A/G snv 1.1E-03 1.0E-03 4
rs121909497
MMP13
0.925 0.080 11 102955390 missense variant A/G snv 3