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
rs1805087
MTR
0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 135
rs483352822
RIT1
0.776 0.360 1 155904470 stop lost C/A;G;T snv 16
rs1557612048
ARID1A
0.807 0.200 1 26767868 missense variant T/C snv 11
rs10465885
LOC102723321 ; GJA5
0.882 0.080 1 147760632 intron variant T/A;C snv 4
rs137852813
SOS1
0.807 0.200 2 39051202 missense variant A/C;G snv 11
rs1057516047
STPG4 ; TTC7A
0.882 0.120 2 47073816 stop gained C/T snv 4
rs2164331
DARS1
2 135910326 intron variant C/T snv 0.18 1
rs309143
DARS1
2 135956608 intron variant A/G snv 0.19 1
rs6738266
DARS1 ; DARS-AS1
2 135985602 5 prime UTR variant C/T snv 2.8E-02 2.8E-02 1
rs80338796
RAF1
0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 37
rs6785358 0.882 0.200 3 30602723 upstream gene variant G/A snv 0.84 4
rs28362491
LOC105377621 ; NFKB1
0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 56
rs61729366
FRAS1
0.851 0.240 4 78511299 missense variant G/A snv 5.2E-03 5.8E-03 6
rs751484586
PITX2
0.925 0.080 4 110618487 missense variant T/C snv 4.0E-06 3
rs1383180
CRMP1 ; EVC
4 5783715 missense variant G/A;T snv 0.35; 2.4E-05 1
rs755273705
EVC
4 5729349 missense variant C/G;T snv 2.0E-05 1
rs1801394
FASTKD3 ; MTRR
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 101
rs759125480
CEP120
0.827 0.160 5 123377409 stop gained G/A snv 1.6E-05 16
rs2277923
NKX2-5
0.752 0.160 5 173235021 synonymous variant T/C snv 0.41 0.44 13
rs1532268
MTRR
0.776 0.280 5 7878066 missense variant C/T snv 0.31 0.32 12
rs113331868
CAMK2A
5 150228191 splice donor variant C/A;T snv 6
rs387906775
NKX2-5
0.925 0.080 5 173234909 missense variant G/C snv 3
rs387906776
NKX2-5
1.000 0.080 5 173232775 missense variant G/A;C;T snv 4.2E-06; 8.4E-06 3
rs796052728
MEF2C
1.000 0.080 5 88823746 missense variant G/A snv 2