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: rs208294
rs208294
P2RX7 ; LOC105370032
9 0.790 0.320 12 121162450 missense variant T/A;C;G snv 0.51 0.010 1.000 1 2014 2014
dbSNP: rs7958311
rs7958311
P2RX7 ; LOC105370032
5 0.851 0.160 12 121167552 missense variant G/A;C snv 0.25; 4.0E-06 0.020 1.000 2 2012 2018
dbSNP: rs1718119
rs1718119
P2RX7 ; LOC105370032
21 0.689 0.520 12 121177300 missense variant G/A;T snv 0.35; 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs201059543
rs201059543
P2RX7 ; LOC105370032
2 12 121184366 missense variant C/G;T snv 4.0E-06; 3.6E-05 0.010 1.000 1 2012 2012
dbSNP: rs1834306
rs1834306
MIR100HG ; MIR100 ; MIR10526
9 0.776 0.200 11 122152479 intron variant A/G snv 0.49 0.010 1.000 1 2016 2016
dbSNP: rs1057518927
rs1057518927
OAT
4 0.925 0.080 10 124402952 missense variant T/C snv 0.700 0
dbSNP: rs73633565
rs73633565 		1 X 13459192 intergenic variant A/G snv 0.14 0.010 1.000 1 2019 2019
dbSNP: rs1554781700
rs1554781700
COL5A1
12 0.851 0.240 9 134701287 missense variant G/T snv 0.700 0
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: rs6827096
rs6827096
EDNRA
1 4 147514294 intron variant C/T snv 0.30 0.010 1.000 1 2020 2020
dbSNP: rs2053044
rs2053044
ADRB2
5 1.000 0.040 5 148825809 5 prime UTR variant A/G snv 0.59 0.010 1.000 1 2012 2012
dbSNP: rs12654778
rs12654778
ADRB2
1 5 148826178 5 prime UTR variant G/A snv 0.34 0.010 1.000 1 2010 2010
dbSNP: rs1042713
rs1042713
ADRB2
63 0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43 0.010 1.000 1 2010 2010
dbSNP: rs4512126
rs4512126
ABLIM3
1 5 149166179 intron variant T/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs9340799
rs9340799
ESR1
62 0.583 0.680 6 151842246 intron variant A/G snv 0.32 0.010 1.000 1 2016 2016
dbSNP: rs28935468
rs28935468
MECP2
17 0.732 0.240 X 154030912 missense variant G/A snv 0.010 1.000 1 2010 2010
dbSNP: rs61751364
rs61751364
MECP2
4 0.882 0.120 X 154030944 frameshift variant CGGAT/- delins 0.010 1.000 1 2010 2010
dbSNP: rs61748421
rs61748421
MECP2
9 0.807 0.200 X 154031326 stop gained G/A;T snv 0.010 1.000 1 2010 2010
dbSNP: rs77114424
rs77114424
OPRM1
2 6 154039497 missense variant G/A snv 0.010 1.000 1 2010 2010
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: rs200207721
rs200207721
OPRM1
2 6 154039743 missense variant A/G snv 1.2E-05 1.4E-05 0.010 1.000 1 2010 2010
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: rs769540300
rs769540300
OPRM1
8 0.851 0.200 6 154091047 missense variant G/A snv 1.2E-05 0.010 1.000 1 2010 2010
dbSNP: rs540825
rs540825
OPRM1
1 6 154093311 missense variant A/C;T snv 2.8E-05; 0.81 0.010 1.000 1 2016 2016
dbSNP: rs677830
rs677830
OPRM1
1 6 154107531 stop gained C/A;G;T snv 6.6E-06; 6.6E-06; 0.19 0.010 1.000 1 2016 2016