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: rs73598374
rs73598374
ADA
8 0.790 0.280 20 44651586 missense variant C/A;G;T snv 7.1E-06; 6.2E-02 0.010 < 0.001 1 2016 2016
dbSNP: rs914839065
rs914839065
ADA2
1 1.000 0.120 22 17209656 missense variant C/T snv 0.010 < 0.001 1 2016 2016
dbSNP: rs12495941
rs12495941
ADIPOQ
5 0.851 0.280 3 186850391 intron variant G/T snv 0.35 0.010 < 0.001 1 2017 2017
dbSNP: rs17300539
rs17300539
ADIPOQ
11 0.752 0.320 3 186841671 upstream gene variant G/A snv 5.3E-02 0.010 < 0.001 1 2017 2017
dbSNP: rs2241766
rs2241766
ADIPOQ ; ADIPOQ-AS1
48 0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13 0.100 0.727 11 2004 2019
dbSNP: rs1501299
rs1501299
ADIPOQ ; ADIPOQ-AS1
52 0.597 0.720 3 186853334 intron variant G/C;T snv 0.030 1.000 3 2013 2018
dbSNP: rs17366743
rs17366743
ADIPOQ ; ADIPOQ-AS1
7 0.807 0.280 3 186854300 missense variant T/C snv 2.2E-02 2.1E-02 0.010 1.000 1 2020 2020
dbSNP: rs2241767
rs2241767
ADIPOQ ; ADIPOQ-AS1
10 0.763 0.440 3 186853407 intron variant A/G snv 0.10 0.010 1.000 1 2020 2020
dbSNP: rs3774261
rs3774261
ADIPOQ ; ADIPOQ-AS1
10 0.776 0.320 3 186853770 splice region variant A/G snv 0.55 0.010 1.000 1 2020 2020
dbSNP: rs1539355
rs1539355
ADIPOR1
1 1.000 0.120 1 202954952 intron variant A/G snv 0.33 0.010 1.000 1 2014 2014
dbSNP: rs1042714
rs1042714
ADRB2
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.010 1.000 1 2013 2013
dbSNP: rs1801704
rs1801704
ADRB2
3 0.882 0.200 5 148826812 5 prime UTR variant C/T snv 0.68 0.68 0.010 1.000 1 2013 2013
dbSNP: rs4994
rs4994
ADRB3
65 0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02 0.020 0.500 2 2000 2005
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.010 1.000 1 2005 2005
dbSNP: rs12529
rs12529
AKR1C3
10 0.776 0.280 10 5094459 missense variant C/G snv 0.50 0.45 0.010 < 0.001 1 2015 2015
dbSNP: rs1937845
rs1937845
AKR1C3
1 1.000 0.120 10 5093956 intron variant A/G snv 0.45 0.010 1.000 1 2015 2015
dbSNP: rs3763676
rs3763676
AKR1C3
1 1.000 0.120 10 5094307 intron variant A/G snv 0.35 0.010 1.000 1 2010 2010
dbSNP: rs3730051
rs3730051
AKT2
1 1.000 0.120 19 40238790 intron variant T/C snv 0.24 0.010 1.000 1 2008 2008
dbSNP: rs8100018
rs8100018
AKT2
1 1.000 0.120 19 40246116 intron variant C/A;G snv 0.010 1.000 1 2008 2008
dbSNP: rs10407022
rs10407022
AMH ; MIR4321
3 0.882 0.200 19 2249478 missense variant G/T snv 0.77 0.74 0.030 0.333 3 2008 2019
dbSNP: rs2002555
rs2002555
AMHR2
1 1.000 0.120 12 53423453 upstream gene variant A/G snv 0.16 0.020 1.000 2 2008 2013
dbSNP: rs4385527
rs4385527
AOPEP
6 0.827 0.280 9 94886305 intron variant G/A snv 0.31 0.720 1.000 3 2012 2015
dbSNP: rs3802457
rs3802457
AOPEP
1 1.000 0.120 9 94979054 intron variant G/A snv 8.5E-02 0.810 1.000 2 2012 2015
dbSNP: rs10993397
rs10993397
AOPEP
1 1.000 0.120 9 94917489 intron variant C/T snv 0.33 0.700 1.000 1 2015 2015
dbSNP: rs7864171
rs7864171
AOPEP
1 1.000 0.120 9 94960984 intron variant G/A;C snv 0.700 1.000 1 2018 2018