Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs549625604
BBS10
0.752 0.280 12 76347713 frameshift variant -/A delins 6.0E-04 13
rs1553403917
ALMS1
0.807 0.320 2 73451171 frameshift variant -/A delins 7
rs45487298
HSD11B1-AS1 ; HSD11B1
0.882 0.120 1 209706871 intron variant -/A delins 3
rs34872250
SST
1.000 0.080 3 187670560 upstream gene variant -/AG ins 2.2E-04 1
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs146052672
HMGA1
0.851 0.160 6 34242693 intron variant -/C delins 5
rs140236920 0.925 0.120 5 18186317 intergenic variant -/TAAAT delins 2
rs397509430
HBB
0.882 0.200 11 5227101 5 prime UTR variant A/- del 3
rs1333048
CDKN2B-AS1
0.683 0.320 9 22125348 intron variant A/C snv 0.44 24
rs10946398
CDKAL1
0.827 0.160 6 20660803 intron variant A/C snv 0.40 7
rs2030323
BDNF
0.925 0.080 11 27706992 intron variant A/C snv 0.83 6
rs201739205
LOC108783654 ; HSD17B1
0.851 0.200 17 42552898 5 prime UTR variant A/C snv 7.8E-03 8.2E-03 5
rs2844479 0.925 0.200 6 31605179 intergenic variant A/C snv 0.34 5
rs35036378
ESR2
0.851 0.200 14 64294403 5 prime UTR variant A/C snv 7.0E-03 5
rs34603401
H6PD
0.882 0.280 1 9245386 missense variant A/C snv 0.12 0.10 4
rs7713645
PIK3R1
0.851 0.200 5 68231498 intron variant A/C snv 0.58 4
rs11624704
NRXN3
1.000 0.080 14 78319734 intron variant A/C snv 0.13 3
rs121913564
MC4R
0.882 0.080 18 60371403 missense variant A/C snv 2.0E-05 1.4E-05 3
rs164147
NOS1AP
0.882 0.080 1 162368607 3 prime UTR variant A/C snv 0.76 3
rs1541276
MC5R
0.925 0.120 18 13825728 splice region variant A/C snv 0.17 0.19 2
rs10504473
NCOA2
1.000 0.080 8 70348097 intron variant A/C snv 0.24 1
rs13426118
BMPR2
1.000 0.080 2 202390762 intron variant A/C snv 0.21 1
rs16964465
SCG3
1.000 0.080 15 51680150 upstream gene variant A/C snv 5.4E-02 1
rs7503807
RPTOR
1.000 0.080 17 80617311 intron variant A/C snv 0.43 1
rs1044498
ENPP1
0.752 0.360 6 131851228 missense variant A/C;G snv 0.19 15