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: rs1236009270
rs1236009270
2 1.000 0.040 16 10977321 synonymous variant C/T snv 0.010 1.000 1 2013 2013
dbSNP: rs1240512008
rs1240512008
2 1.000 0.040 20 44413780 missense variant G/A snv 0.010 1.000 1 2000 2000
dbSNP: rs12522383
rs12522383
2 5 111119568 intron variant G/A snv 0.29 0.010 1.000 1 2015 2015
dbSNP: rs1260236
rs1260236
2 1.000 0.040 9 6023030 intergenic variant A/G snv 0.010 1.000 1 2018 2018
dbSNP: rs1282596664
rs1282596664
2 1.000 0.040 17 37731616 missense variant A/G snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs12910524
rs12910524
2 1.000 0.040 15 101262360 intergenic variant T/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs1309065326
rs1309065326
2 1.000 0.040 20 38141383 missense variant T/C snv 5.4E-06 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs13427836
rs13427836
2 1.000 0.040 2 128270387 intron variant C/T snv 0.11 0.700 1.000 1 2016 2016
dbSNP: rs1388926124
rs1388926124
2 1.000 0.040 12 120978862 missense variant G/A snv 0.010 < 0.001 1 2006 2006
dbSNP: rs1406167595
rs1406167595
2 1.000 0.040 5 134114958 missense variant G/A snv 1.5E-05 0.010 1.000 1 2000 2000
dbSNP: rs142318174
rs142318174
2 1.000 0.040 12 120978923 missense variant G/C snv 2.0E-04 8.1E-04 0.010 1.000 1 2000 2000
dbSNP: rs143517122
rs143517122
2 1.000 0.040 13 27924267 missense variant G/A;T snv 2.1E-04; 4.2E-06 0.010 1.000 1 2000 2000
dbSNP: rs147028059
rs147028059
2 1.000 0.080 6 161785807 missense variant T/C;G snv 4.0E-06; 1.6E-05 0.010 1.000 1 2018 2018
dbSNP: rs148529020
rs148529020
2 1.000 0.040 11 17460613 missense variant C/T snv 1.2E-05 1.4E-05 0.010 1.000 1 2012 2012
dbSNP: rs149131600
rs149131600
2 1.000 0.040 19 35058218 intron variant C/A;T snv 0.10 0.700 1.000 1 2019 2019
dbSNP: rs150179526
rs150179526
2 1.000 0.040 2 162144091 missense variant T/C;G snv 2.7E-03 0.010 < 0.001 1 2002 2002
dbSNP: rs1543654
rs1543654
2 1.000 0.040 21 34426752 upstream gene variant T/C snv 0.010 1.000 1 2016 2016
dbSNP: rs15673
rs15673
2 1.000 0.040 17 68267123 3 prime UTR variant C/A;T snv 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs161827
rs161827
2 1.000 0.040 1 7921974 3 prime UTR variant T/C snv 0.12 0.010 1.000 1 2017 2017
dbSNP: rs17137004
rs17137004
2 1.000 0.040 7 114389196 intron variant A/G snv 0.38 0.700 1.000 1 2019 2019
dbSNP: rs17238540
rs17238540
2 1.000 0.040 5 75359673 non coding transcript exon variant T/G snv 4.0E-02 0.010 1.000 1 2008 2008
dbSNP: rs1744
rs1744
2 1.000 0.040 6 32747257 downstream gene variant A/T snv 1.2E-02 0.010 1.000 1 2017 2017
dbSNP: rs17697419
rs17697419
2 1.000 0.080 4 176687012 intron variant G/A snv 8.5E-02 0.010 1.000 1 2015 2015
dbSNP: rs17697515
rs17697515
2 1.000 0.080 4 176689270 intron variant C/T snv 5.1E-02 0.010 1.000 1 2015 2015
dbSNP: rs17791685
rs17791685
2 1.000 0.040 3 57272583 3 prime UTR variant C/A snv 0.19 0.010 1.000 1 2007 2007