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
rs752746786
GNB1
0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 30
rs765379963
TMCO1
0.701 0.520 1 165743172 stop gained G/A snv 1.2E-05 2.1E-05 19
rs642961 0.732 0.440 1 209815925 intergenic variant A/G snv 0.84 14
rs2235371
IRF6
0.752 0.360 1 209790735 missense variant C/T snv 8.7E-02 3.9E-02 11
rs1553200431
COL11A1
0.851 0.240 1 102912180 inframe deletion CCTCACCAGATGGGCCAG/- delins 8
rs1135401746
GNB1
0.827 0.400 1 1806512 missense variant C/G snv 7
rs1558027212
TMCO1
0.827 0.320 1 165728096 frameshift variant GC/- del 7
rs2235375
IRF6
0.807 0.400 1 209792242 intron variant G/A;C;T snv 3.2E-05; 0.41; 4.3E-04 7
rs1553155986
SLC2A1
0.827 0.280 1 42929008 missense variant C/T snv 6
rs2486668
GRHL3
0.807 0.320 1 24331573 missense variant C/G snv 0.16 0.17 6
rs2013162
IRF6
0.827 0.280 1 209795339 synonymous variant C/A;T snv 0.41; 1.6E-05 5
rs560426
ABCA4
0.851 0.200 1 94087882 intron variant C/T snv 0.53 5
rs28942094
IRF6
0.851 0.400 1 209801398 missense variant G/A snv 4
rs41268753
GRHL3
0.882 0.200 1 24342967 missense variant C/T snv 2.3E-02 2.3E-02 3
rs545809
GRHL3 ; STPG1
0.882 0.200 1 24364274 missense variant T/A snv 0.29 0.26 3
rs1057518992
NFIA
1.000 0.200 1 61359232 frameshift variant G/- delins 2
rs1558939623
CHN1
0.732 0.480 2 174824479 missense variant C/T snv 19
rs1553544133
SATB2
0.851 0.200 2 199308845 frameshift variant TC/- delins 6
rs201002930
WNT10A
0.827 0.200 2 218889997 synonymous variant C/T snv 3.2E-05 7.0E-06 6
rs11466285
TGFA
0.851 0.200 2 70450307 3 prime UTR variant A/C;G snv 5
rs2166975
TGFA
0.827 0.240 2 70450862 synonymous variant G/A snv 0.24 0.23 5
rs3771523
TGFA
0.851 0.200 2 70450336 3 prime UTR variant C/T snv 0.14 5
rs1139
ZNF385B
0.851 0.200 2 179745354 intron variant C/T snv 0.22 4