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: rs1057518927
rs1057518927
OAT
4 0.925 0.080 10 124402952 missense variant T/C snv 0.700 0
dbSNP: rs1057518946
rs1057518946
GJB1
8 0.882 0.080 X 71223816 missense variant G/T snv 0.700 0
dbSNP: rs121908552
rs121908552
SCN4A ; LOC105371858
14 0.763 0.160 17 63964587 missense variant C/A;G;T snv 4.0E-06 0.700 0
dbSNP: rs1445287184
rs1445287184
PTPRQ ; LOC105369867
7 1.000 0.120 12 80670365 stop gained C/T snv 3.2E-05 2.8E-05 0.700 0
dbSNP: rs1554781700
rs1554781700
COL5A1
12 0.851 0.240 9 134701287 missense variant G/T snv 0.700 0
dbSNP: rs1555735545
rs1555735545
STRN4 ; FKRP
22 0.851 0.160 19 46746071 5 prime UTR variant G/A snv 0.700 0
dbSNP: rs28937900
rs28937900
FKRP
37 0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03 0.700 0
dbSNP: rs397514698
rs397514698
GNAQ
52 0.667 0.400 9 77797577 missense variant C/T snv 0.700 0
dbSNP: rs781565158
rs781565158
PYROXD1
22 0.851 0.120 12 21452130 missense variant A/G snv 4.7E-05 2.1E-05 0.700 0
dbSNP: rs61752717
rs61752717
MEFV
72 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.010 1.000 1 1999 1999
dbSNP: rs4680
rs4680
COMT ; MIR4761
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.100 0.842 38 2003 2020
dbSNP: rs1799971
rs1799971
OPRM1
95 0.559 0.600 6 154039662 missense variant A/G snv 0.19 0.12 0.100 0.979 47 2004 2019
dbSNP: rs121913365
rs121913365
BRAF
10 0.776 0.320 7 140753332 missense variant T/A;G snv 0.010 1.000 1 2004 2004
dbSNP: rs6313
rs6313
HTR2A
82 0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 0.010 1.000 1 2004 2004
dbSNP: rs104894379
rs104894379
TBX5
2 1.000 0.120 12 114398675 stop gained G/A;C;T snv 0.010 1.000 1 2005 2005
dbSNP: rs1172682117
rs1172682117
ERG
1 21 38403690 synonymous variant T/G snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs80338761
rs80338761
SEPTIN9
4 0.882 0.080 17 77402298 missense variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs373611092
rs373611092
COMT ; MIR4761
5 0.925 0.160 22 19962794 missense variant A/G snv 8.4E-05 4.9E-05 0.050 1.000 5 2009 2019
dbSNP: rs11466112
rs11466112
NGF ; NGF-AS1
3 1.000 0.080 1 115286135 missense variant G/A snv 1.6E-05 7.0E-06 0.030 1.000 3 2009 2019
dbSNP: rs5275
rs5275
PTGS2
55 0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv 0.030 1.000 3 2009 2015
dbSNP: rs563649
rs563649
OPRM1
2 1.000 0.040 6 154086832 5 prime UTR variant C/T snv 9.8E-02 0.020 1.000 2 2009 2017
dbSNP: rs6280
rs6280
DRD3
57 0.602 0.520 3 114171968 missense variant C/T snv 0.63 0.54 0.020 1.000 2 2009 2014
dbSNP: rs10483639
rs10483639 		3 1.000 0.040 14 54839739 downstream gene variant G/C snv 0.26 0.010 1.000 1 2009 2009
dbSNP: rs1288779666
rs1288779666
CYP2D6 ; NDUFA6-DT ; LOC112268294
2 1.000 0.120 22 42128944 missense variant C/G snv 0.010 1.000 1 2009 2009
dbSNP: rs17122021
rs17122021 		1 11 118274971 regulatory region variant C/A;T snv 0.800 1.000 1 2009 2009