Source: BEFREE ×
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: rs10007052
rs10007052
RNF150
1 1.000 0.040 4 141084419 intron variant C/A snv 0.31 0.710 1.000 1 2012 2015
dbSNP: rs1001179
rs1001179
CAT
33 0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16 0.010 1.000 1 2019 2019
dbSNP: rs10013495
rs10013495 		1 1.000 0.040 4 144584486 intron variant C/T snv 0.23 0.010 1.000 1 2013 2013
dbSNP: rs1002149
rs1002149
GSR ; UBXN8
1 1.000 0.040 8 30728221 upstream gene variant G/T snv 0.20 0.010 1.000 1 2019 2019
dbSNP: rs10069690
rs10069690
TERT
40 0.595 0.560 5 1279675 intron variant C/T snv 0.36 0.010 1.000 1 2019 2019
dbSNP: rs1008438
rs1008438
HSPA1A ; HSPA1L
6 0.807 0.120 6 31815431 upstream gene variant A/C;T snv 0.710 1.000 1 2019 2019
dbSNP: rs1022113606
rs1022113606
SOD3
17 0.732 0.280 4 24800161 missense variant G/C snv 1.6E-04 2.1E-05 0.030 1.000 3 2008 2016
dbSNP: rs1038376
rs1038376
CYP2B6
1 1.000 0.040 19 41018104 3 prime UTR variant A/T snv 0.31 0.010 1.000 1 2019 2019
dbSNP: rs1042711
rs1042711
ADRB2
5 0.827 0.120 5 148826785 5 prime UTR variant C/A;G;T snv 4.2E-06; 0.68 0.010 1.000 1 2017 2017
dbSNP: rs1042713
rs1042713
ADRB2
63 0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43 0.060 0.833 6 2010 2018
dbSNP: rs1042714
rs1042714
ADRB2
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.040 1.000 4 2012 2019
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.030 1.000 3 2010 2018
dbSNP: rs1048290
rs1048290
KEAP1
4 0.851 0.160 19 10489766 synonymous variant G/C snv 0.41 0.48 0.010 1.000 1 2019 2019
dbSNP: rs1048829
rs1048829
BMPR2
4 0.925 0.080 2 202565733 3 prime UTR variant T/A;G snv 0.010 1.000 1 2016 2016
dbSNP: rs1050450
rs1050450
GPX1
43 0.623 0.600 3 49357401 missense variant G/A snv 0.28 0.30 0.010 1.000 1 2019 2019
dbSNP: rs1051052
rs1051052
SERPINA1
1 1.000 0.040 14 94377595 3 prime UTR variant A/G snv 0.47 0.010 1.000 1 2018 2018
dbSNP: rs1051730
rs1051730
CHRNA3
37 0.641 0.600 15 78601997 synonymous variant G/A snv 0.27 0.26 0.900 1.000 13 2010 2018
dbSNP: rs1051740
rs1051740
EPHX1
56 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.010 1.000 1 2017 2017
dbSNP: rs10519225
rs10519225
FGF7 ; FAM227B
1 1.000 0.040 15 49428581 intron variant G/A snv 0.28 0.010 1.000 1 2012 2012
dbSNP: rs10519717
rs10519717
LOC105377462
4 0.851 0.080 4 144559188 intron variant T/C snv 0.21 0.020 1.000 2 2017 2019
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 1.000 1 2009 2009
dbSNP: rs1059823
rs1059823
SLC11A1
1 1.000 0.040 2 218395121 3 prime UTR variant A/G snv 0.52 0.010 1.000 1 2008 2008
dbSNP: rs10759932
rs10759932
TLR4
15 0.732 0.560 9 117702866 upstream gene variant T/C snv 0.18 0.020 1.000 2 2019 2019
dbSNP: rs10851906
rs10851906
IREB2
1 1.000 0.040 15 78482334 intron variant A/G snv 0.21 0.010 1.000 1 2012 2012
dbSNP: rs10873142
rs10873142
HIF1A ; HIF1A-AS3
1 1.000 0.040 14 61736744 intron variant C/T snv 0.67 0.010 1.000 1 2018 2018