Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs79105258
CUX2
12 111280427 intron variant C/A;T snv 24
rs1533988 7 1253374 intergenic variant A/T snv 0.59 6
rs17216707 20 54115823 intergenic variant T/C snv 0.17 6
rs8068318
TBX2
17 61406405 non coding transcript exon variant C/T snv 0.56 6
rs6127099 20 54114863 intergenic variant A/T snv 0.28 5
rs2337106
SMAD7
18 48934533 intron variant C/A;G snv 4
rs2453580
SLC47A1
17 19535008 non coding transcript exon variant T/C snv 0.37 4
rs2928148
INO80
15 41109352 intron variant G/A snv 0.44 4
rs34720381
PRRC2C
1 171486183 intron variant C/T snv 7.3E-02 4
rs6026578
GNAS ; LOC101927932
20 58888417 5 prime UTR variant C/G snv 0.60 4
rs6809651
ETV5
3 186096853 intron variant G/A snv 0.14 4
rs10206899
ALMS1P1
2 73673773 intron variant T/C;G snv 0.21; 3.9E-05 3
rs10254101
PRKAG2
7 151718450 intron variant C/T snv 0.23 3
rs10513801
ETV5
3 186104564 intron variant T/G snv 9.2E-02 3
rs10874312 1 82478888 intron variant G/A snv 0.70 3
rs12124078
DNAJC16
1 15543404 intron variant A/G snv 0.32 3
rs1275609
LOC105369844
12 75877403 intron variant G/A snv 0.40 3
rs143193096
IGF1R
15 98916098 missense variant G/A;C snv 8.4E-05; 4.0E-06 3
rs151134704
NFKB1 ; LOC105377347
4 102616435 splice region variant C/T snv 1.6E-04 9.1E-05 3
rs16856823
LRP2
2 169343942 intron variant A/T snv 4.6E-02 3
rs199592697
WNT7A
3 13854632 missense variant C/T snv 1.7E-04 1.1E-04 3
rs2290263 7 25847658 intergenic variant G/A snv 0.77 3
rs36096257
TFCP2L1
2 121281207 missense variant G/A snv 6.8E-03 2.9E-03 3
rs3850625
CACNA1S
1 201047168 missense variant G/A snv 0.12 8.9E-02 3
rs4690095
RGS12
4 3419582 intron variant C/G;T snv 3