Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs3025058
MMP3
0.658 0.600 11 102845217 upstream gene variant -/C;G ins 2.8E-04 26
rs3836790
SLC6A3
0.882 0.080 5 1411740 intron variant -/ACATACACACTCAGACACACATACCATGCA ins 5
rs34717272
RGS2
1 192810962 intron variant TC/CT mnv 1
rs1565930588
HSPB8
0.882 0.160 12 119193787 frameshift variant TACTCAACATTTGG/- del 19
rs1275805226
AGT
0.776 0.240 1 230706148 frameshift variant G/- del 7.0E-06 12
rs36217263
KL
1.000 0.040 13 33015697 upstream gene variant A/- del 0.21 4
rs145054295 11 96709521 intron variant AT/- del 7.0E-03 1
rs312262690
ANTXR2
0.752 0.320 4 79984831 frameshift variant -/G;GG delins 1.7E-05 28
rs1555206402
HMBS
0.790 0.320 11 119093274 stop lost GCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCCT/- delins 26
rs1799752
ACE
0.677 0.480 17 63488529 intron variant -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT delins 25
rs1553201258
DARS2
0.807 0.160 1 173828312 non coding transcript exon variant TT/C delins 14
rs28363170
SLC6A3
0.827 0.120 5 1393745 3 prime UTR variant -/AGTGGGGGCCCTGCATGCGTCCTGGGGTAGTACACGCTCC delins 8.1E-06 7
rs1057518903
MEN1
0.882 0.160 11 64807890 splice region variant C/- delins 6
rs146052672
HMGA1
0.851 0.160 6 34242693 intron variant -/C delins 5
rs1057518797
PKD2
4 88008090 frameshift variant CCCGGGCA/TAGGACG delins 3
rs146021107
PDX1
13 27920030 5 prime UTR variant G/- delins 0.22 1
rs35530071 17 7659807 downstream gene variant TT/-;T;TTT;TTTT;TTTTT;TTTTTTTTTTTTT delins 1
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
rs6265
BDNF ; BDNF-AS
0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 272
rs4680
COMT ; MIR4761
0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 249
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 246
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs759834365
BDNF-AS ; BDNF
0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 237
rs1799945
LOC108783645 ; HFE
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 226