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: rs17568
rs17568
TNFRSF4
12 0.752 0.320 1 1212042 synonymous variant C/T snv 0.37 0.31 0.010 1.000 1 2019 2019
dbSNP: rs1776964
rs1776964
SLC23A2
1 1.000 0.040 20 4899662 synonymous variant G/A snv 0.47 0.45 0.010 1.000 1 2013 2013
dbSNP: rs17817449
rs17817449
FTO
21 0.716 0.560 16 53779455 intron variant T/A;G snv 0.010 1.000 1 2010 2010
dbSNP: rs1799750
rs1799750
MMP1 ; WTAPP1
48 0.592 0.760 11 102799765 intron variant C/- delins 0.50 0.010 1.000 1 2017 2017
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.030 1.000 3 2004 2012
dbSNP: rs1800470
rs1800470
TGFB1
107 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 0.010 1.000 1 2012 2012
dbSNP: rs1800796
rs1800796
IL6 ; STEAP1B ; IL6-AS1
74 0.555 0.760 7 22726627 non coding transcript exon variant G/C snv 9.9E-02 0.010 1.000 1 2010 2010
dbSNP: rs1801222
rs1801222
CUBN
5 0.925 0.160 10 17114152 missense variant A/G snv 0.73 0.72 0.010 1.000 1 2020 2020
dbSNP: rs1801252
rs1801252
ADRB1
17 0.724 0.320 10 114044277 missense variant A/G snv 0.15 0.17 0.010 1.000 1 2005 2005
dbSNP: rs1801253
rs1801253
ADRB1
34 0.683 0.440 10 114045297 missense variant G/C snv 0.74 0.69 0.010 1.000 1 2005 2005
dbSNP: rs1801282
rs1801282
PPARG
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.010 1.000 1 2009 2009
dbSNP: rs1805192
rs1805192
PPARG
121 0.510 0.840 3 12379739 missense variant C/G snv 0.010 1.000 1 2009 2009
dbSNP: rs181937009
rs181937009
LOC100507477 ; LOC107986652
3 0.925 0.040 6 140064258 intron variant A/G snv 0.23 0.700 1.000 1 2017 2017
dbSNP: rs186696265
rs186696265 		6 0.882 0.040 6 160690668 intergenic variant C/T snv 1.0E-02 0.700 1.000 1 2017 2017
dbSNP: rs1883832
rs1883832
CD40
52 0.581 0.680 20 46118343 5 prime UTR variant T/C snv 0.75 0.80 0.010 1.000 1 2011 2011
dbSNP: rs188845491
rs188845491
CYP3A7 ; CYP3A51P ; ZSCAN25 ; CYP3A7-CYP3A51P
1 1.000 0.040 7 99689016 intron variant C/T snv 2.5E-04 0.700 1.000 1 2015 2015
dbSNP: rs189889864
rs189889864 		2 0.925 0.040 9 104634643 downstream gene variant G/A snv 2.8E-03 0.700 1.000 1 2017 2017
dbSNP: rs190543502
rs190543502
TP53BP1
2 0.925 0.040 15 43464986 intron variant T/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs192427471
rs192427471 		2 0.925 0.040 4 124644124 intergenic variant C/T snv 2.4E-03 0.700 1.000 1 2017 2017
dbSNP: rs1967309
rs1967309
ADCY9
3 0.925 0.080 16 4015582 non coding transcript exon variant A/G snv 0.51 0.710 1.000 2 2015 2017
dbSNP: rs1994016
rs1994016
ADAMTS7
7 0.851 0.160 15 78787892 intron variant C/T snv 0.30 0.010 1.000 1 2018 2018
dbSNP: rs201052613
rs201052613 		3 0.882 0.080 1 173026503 intron variant T/-;TT delins 9.4E-03 0.700 1.000 1 2017 2017
dbSNP: rs201394051
rs201394051 		2 0.925 0.040 5 117697919 intergenic variant TA/-;TATA;TATATA delins 0.700 1.000 1 2017 2017
dbSNP: rs2043556
rs2043556
PRKG1 ; MIR605
17 0.716 0.440 10 51299646 non coding transcript exon variant T/C snv 0.25 0.24 0.010 1.000 1 2019 2019
dbSNP: rs2070744
rs2070744
NOS3
54 0.608 0.680 7 150992991 intron variant C/T snv 0.70 0.010 1.000 1 2019 2019