Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2086452
ADAMTS17
1.000 0.040 15 100188458 intron variant G/A;C snv 1
rs12894467
MIR300 ; MIR1185-1
0.807 0.080 14 101041390 non coding transcript exon variant C/T snv 0.51 0.50 6
rs58834075
MIR656
0.882 0.040 14 101066756 non coding transcript exon variant C/G;T snv 4.0E-06; 4.6E-02 3
rs3821204
IL18R1 ; IL1RL1
0.807 0.160 2 102343821 3 prime UTR variant C/G snv 0.21 6
rs6218
LINC02456 ; HELLPAR ; IGF1
0.732 0.440 12 102399855 3 prime UTR variant A/G snv 2.1E-02 13
rs12879262
MIR4309
0.882 0.040 14 102539710 non coding transcript exon variant G/C snv 0.12 0.11 3
rs2296147
BIVM-ERCC5 ; ERCC5
0.695 0.280 13 102846025 5 prime UTR variant T/C snv 0.38 21
rs1047768
ERCC5 ; BIVM-ERCC5
0.695 0.320 13 102852167 synonymous variant T/C snv 0.52 0.59 20
rs17655
BIVM-ERCC5 ; ERCC5
0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 52
rs861539
KLC1 ; XRCC3
0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 104
rs1273593548
PIK3CG
0.716 0.160 7 106867593 missense variant T/G snv 8.4E-06 19
rs1226994105
PIK3CG
0.882 0.040 7 106868379 missense variant G/A snv 8.0E-06 5
rs4730222
HBP1
0.851 0.040 7 107169848 5 prime UTR variant G/A;C;T snv 4
rs1800544
ADRA2A
0.790 0.160 10 111076745 upstream gene variant G/C snv 0.59 12
rs553668
ADRA2A
0.807 0.160 10 111079821 3 prime UTR variant A/G;T snv 8
rs4938723
MIR34C ; BTG4 ; MIR34B ; LOC728196
0.574 0.680 11 111511840 intron variant T/C snv 0.32 60
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs12146774
LOC105370025
1.000 0.040 12 119235698 intron variant C/T snv 0.15 1
rs79184941
FGFR2
0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 41
rs1800449
LOX
0.641 0.400 5 122077513 missense variant C/A;T snv 4.0E-06; 0.17 33
rs1800541
EDN1
0.851 0.120 6 12288986 upstream gene variant T/G snv 0.24 5
rs2070699
EDN1
0.752 0.080 6 12292539 intron variant G/C;T snv 0.45 14
rs5370
EDN1
0.630 0.520 6 12296022 missense variant G/T snv 0.23 0.21 37
rs4150506
ERCC3
0.851 0.120 2 127262970 intron variant G/A snv 0.18 4
rs4150441
ERCC3
0.882 0.040 2 127283339 intron variant T/C snv 0.37 5