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: rs147565266
rs147565266
1 2 187446788 intron variant T/A snv 2.1E-05 0.010 1.000 1 2017 2017
dbSNP: rs1480544
rs1480544
1 4 170066485 splice region variant A/G;T snv 0.57; 4.0E-04 0.010 1.000 1 2019 2019
dbSNP: rs148158062
rs148158062
1 1 147468451 intron variant -/GTTCCTTC delins 0.700 1.000 1 2011 2011
dbSNP: rs1564060
rs1564060
1 14 84159449 intergenic variant A/G snv 0.68 0.700 1.000 1 2015 2015
dbSNP: rs161802
rs161802
1 1 7982766 intron variant G/T snv 0.25 0.800 1.000 1 2014 2014
dbSNP: rs17329620
rs17329620
1 12 87757000 upstream gene variant A/C;G snv 0.11 0.700 1.000 1 2013 2013
dbSNP: rs17347800
rs17347800
1 7 18477656 intron variant G/A;T snv 0.700 1.000 1 2015 2015
dbSNP: rs1767788
rs1767788
1 6 44627656 regulatory region variant C/T snv 0.75 0.700 1.000 1 2012 2012
dbSNP: rs17771318
rs17771318
1 10 48703312 intron variant G/A snv 2.9E-02 0.700 1.000 1 2015 2015
dbSNP: rs1800542
rs1800542
1 6 12292295 intron variant G/A snv 5.6E-02 0.11 0.010 1.000 1 2009 2009
dbSNP: rs1906599
rs1906599
1 4 110791530 upstream gene variant T/C snv 0.67 0.700 1.000 1 2012 2012
dbSNP: rs1937787
rs1937787
1 1 80373593 non coding transcript exon variant T/C snv 0.23 0.700 1.000 1 2015 2015
dbSNP: rs1952706
rs1952706
1 14 36205321 intergenic variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs1986743
rs1986743
1 2 152730385 intron variant A/G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs202680
rs202680
1 11 49200333 synonymous variant T/A snv 0.31 0.37 0.010 1.000 1 2010 2010
dbSNP: rs2084637
rs2084637
1 11 122520479 intron variant T/C snv 0.27 0.700 1.000 1 2015 2015
dbSNP: rs2084898
rs2084898
1 11 120156040 intron variant G/A snv 9.3E-02 0.700 1.000 1 2012 2012
dbSNP: rs215976
rs215976
1 12 2585472 missense variant C/G;T snv 0.11 0.010 1.000 1 2018 2018
dbSNP: rs225132
rs225132
1 1 8035440 intron variant T/G snv 0.27 0.800 1.000 1 2014 2014
dbSNP: rs2283436
rs2283436
1 15 89188545 intron variant T/C snv 9.6E-02 0.700 1.000 1 2011 2011
dbSNP: rs229961
rs229961
1 5 57690889 regulatory region variant T/C snv 0.87 0.010 1.000 1 2018 2018
dbSNP: rs2304556
rs2304556
1 2 152617280 intron variant T/G snv 0.36 0.700 1.000 1 2011 2011
dbSNP: rs2415317
rs2415317
1 14 36140472 intron variant G/A snv 0.46 0.010 1.000 1 2016 2016
dbSNP: rs243832
rs243832
1 16 55505279 intron variant C/G snv 0.50 0.010 < 0.001 1 2018 2018
dbSNP: rs248812
rs248812
1 12 97667368 intergenic variant C/A snv 0.74 0.700 1.000 1 2015 2015