Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs12894467
rs12894467
MIR300 ; MIR1185-1
6 0.807 0.080 14 101041390 non coding transcript exon variant C/T snv 0.51 0.50 0.010 1.000 1 2018 2018
dbSNP: rs58834075
rs58834075
MIR656
3 0.882 0.040 14 101066756 non coding transcript exon variant C/G;T snv 4.0E-06; 4.6E-02 0.010 1.000 1 2018 2018
dbSNP: rs3821204
rs3821204
IL18R1 ; IL1RL1
6 0.807 0.160 2 102343821 3 prime UTR variant C/G snv 0.21 0.010 1.000 1 2018 2018
dbSNP: rs6218
rs6218
IGF1 ; HELLPAR ; LINC02456
13 0.732 0.440 12 102399855 3 prime UTR variant A/G snv 2.1E-02 0.010 1.000 1 2017 2017
dbSNP: rs12879262
rs12879262
MIR4309
3 0.882 0.040 14 102539710 non coding transcript exon variant G/C snv 0.12 0.11 0.010 1.000 1 2018 2018
dbSNP: rs2296147
rs2296147
ERCC5 ; BIVM-ERCC5
21 0.695 0.280 13 102846025 5 prime UTR variant T/C snv 0.38 0.010 1.000 1 2018 2018
dbSNP: rs1047768
rs1047768
ERCC5 ; BIVM-ERCC5
20 0.695 0.320 13 102852167 synonymous variant T/C snv 0.52 0.59 0.020 1.000 2 2013 2018
dbSNP: rs17655
rs17655
ERCC5 ; BIVM-ERCC5
52 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 0.020 1.000 2 2012 2015
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.040 0.750 4 2015 2018
dbSNP: rs1273593548
rs1273593548
PIK3CG
19 0.716 0.160 7 106867593 missense variant T/G snv 8.4E-06 0.010 1.000 1 2019 2019
dbSNP: rs1226994105
rs1226994105
PIK3CG
5 0.882 0.040 7 106868379 missense variant G/A snv 8.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs4730222
rs4730222
HBP1
4 0.851 0.040 7 107169848 5 prime UTR variant G/A;C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1800544
rs1800544
ADRA2A
12 0.790 0.160 10 111076745 upstream gene variant G/C snv 0.59 0.010 1.000 1 2015 2015
dbSNP: rs553668
rs553668
ADRA2A
8 0.807 0.160 10 111079821 3 prime UTR variant A/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs4938723
rs4938723
BTG4 ; MIR34B ; MIR34C ; LOC728196
60 0.574 0.680 11 111511840 intron variant T/C snv 0.32 0.010 1.000 1 2014 2014
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 < 0.001 1 2008 2008
dbSNP: rs79184941
rs79184941
FGFR2
41 0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs1800449
rs1800449
LOX
33 0.641 0.400 5 122077513 missense variant C/A;T snv 4.0E-06; 0.17 0.010 1.000 1 2012 2012
dbSNP: rs1800541
rs1800541
EDN1
5 0.851 0.120 6 12288986 upstream gene variant T/G snv 0.24 0.020 1.000 2 2013 2014
dbSNP: rs2070699
rs2070699
EDN1
14 0.752 0.080 6 12292539 intron variant G/C;T snv 0.45 0.020 0.500 2 2013 2014
dbSNP: rs5370
rs5370
EDN1
37 0.630 0.520 6 12296022 missense variant G/T snv 0.23 0.21 0.010 1.000 1 2014 2014
dbSNP: rs4150506
rs4150506
ERCC3
4 0.851 0.120 2 127262970 intron variant G/A snv 0.18 0.010 < 0.001 1 2016 2016
dbSNP: rs4150441
rs4150441
ERCC3
5 0.882 0.040 2 127283339 intron variant T/C snv 0.37 0.020 1.000 2 2016 2017
dbSNP: rs12190287
rs12190287
TCF21
19 0.708 0.280 6 133893387 3 prime UTR variant C/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs752742313
rs752742313
PIK3CB
36 0.637 0.320 3 138655502 missense variant C/T snv 1.2E-05 0.010 1.000 1 2012 2012