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: rs1256054
rs1256054
3 0.882 0.120 14 64249595 synonymous variant G/C snv 2.8E-03 9.6E-04 0.010 1.000 1 2010 2010
dbSNP: rs12774070
rs12774070
4 0.925 0.120 10 70753879 missense variant C/A;G snv 0.23 0.19 0.010 1.000 1 2017 2017
dbSNP: rs12918952
rs12918952
7 0.851 0.120 16 78386878 missense variant G/A;C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs1455751791
rs1455751791
3 0.882 0.120 6 152011735 synonymous variant C/G snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs17530068
rs17530068
3 0.882 0.120 6 81483392 intergenic variant T/C snv 0.19 0.010 1.000 1 2020 2020
dbSNP: rs184432
rs184432
3 0.882 0.120 21 42367453 upstream gene variant G/A snv 0.64 0.010 1.000 1 2015 2015
dbSNP: rs2064863
rs2064863
4 0.925 0.120 20 56387716 intron variant T/A;C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs2071504
rs2071504
4 0.882 0.120 17 7502618 non coding transcript exon variant C/T snv 0.18 0.17 0.010 1.000 1 2012 2012
dbSNP: rs2071676
rs2071676
4 0.925 0.120 9 35674056 missense variant G/A snv 0.37 0.30 0.010 1.000 1 2012 2012
dbSNP: rs2105269
rs2105269
4 0.882 0.120 14 69280517 intron variant A/G snv 0.35 0.010 1.000 1 2019 2019
dbSNP: rs2236142
rs2236142
6 0.827 0.120 22 28741956 5 prime UTR variant G/C snv 0.66 0.010 1.000 1 2012 2012
dbSNP: rs2236338
rs2236338
6 0.851 0.120 14 24631076 missense variant A/G snv 0.24 0.25 0.010 < 0.001 1 2015 2015
dbSNP: rs2253319
rs2253319
3 0.882 0.120 21 34815749 intron variant C/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs225359
rs225359
3 0.882 0.120 21 42367327 upstream gene variant G/A snv 0.62 0.010 1.000 1 2015 2015
dbSNP: rs2288496
rs2288496
2 0.925 0.120 14 81145770 3 prime UTR variant T/C snv 0.39 0.010 1.000 1 2019 2019
dbSNP: rs28382575
rs28382575
5 0.851 0.120 22 23783502 synonymous variant T/C snv 2.2E-02 1.8E-02 0.010 1.000 1 2018 2018
dbSNP: rs2881766
rs2881766
5 0.882 0.120 6 151797984 intron variant T/G snv 0.35 0.010 1.000 1 2019 2019
dbSNP: rs3218038
rs3218038
4 0.882 0.120 19 29814988 intron variant G/T snv 9.1E-02 0.010 1.000 1 2012 2012
dbSNP: rs34214448
rs34214448
7 0.851 0.120 17 51154651 intron variant G/T snv 0.39 0.010 1.000 1 2012 2012
dbSNP: rs3748093
rs3748093
4 0.925 0.120 7 140800651 intron variant T/A snv 1.5E-02 0.010 1.000 1 2013 2013
dbSNP: rs3760468
rs3760468
3 0.882 0.120 17 51153130 upstream gene variant A/T snv 0.39 0.010 1.000 1 2012 2012
dbSNP: rs3801004
rs3801004
3 0.882 0.120 7 5598591 intron variant C/A;G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs438034
rs438034
4 0.882 0.120 1 214657274 stop gained A/G;T snv 0.61 0.010 1.000 1 2009 2009
dbSNP: rs4705341
rs4705341
3 0.882 0.120 5 149426373 non coding transcript exon variant A/G snv 0.13 0.010 1.000 1 2016 2016
dbSNP: rs4719839
rs4719839
4 0.882 0.120 7 25946953 downstream gene variant G/A;C snv 0.010 1.000 1 2014 2014