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: rs35300242
rs35300242
5 0.827 0.120 2 233260144 intron variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs36001488
rs36001488
14 0.724 0.240 2 233276621 intron variant C/T snv 0.44 0.700 1.000 1 2015 2015
dbSNP: rs2241880
rs2241880
37 0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44 0.100 0.833 12 2007 2019
dbSNP: rs901312933
rs901312933
4 0.882 0.120 2 233282746 missense variant G/A;T snv 0.020 1.000 2 2009 2010
dbSNP: rs1474156473
rs1474156473
3 0.925 0.040 2 233293259 synonymous variant T/C snv 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs2241877
rs2241877
1 1.000 0.040 2 233277843 intron variant A/G snv 0.69 0.010 1.000 1 2017 2017
dbSNP: rs2241879
rs2241879
3 0.882 0.080 2 233274822 intron variant G/A snv 0.45 0.44 0.010 1.000 1 2012 2012
dbSNP: rs4663396
rs4663396
2 0.925 0.040 2 233283605 intron variant C/T snv 0.26 0.010 1.000 1 2012 2012
dbSNP: rs4663402
rs4663402
4 0.851 0.080 2 233285017 intron variant A/T snv 5.1E-02 0.010 1.000 1 2017 2017
dbSNP: rs4663421
rs4663421
3 0.882 0.080 2 233293054 intron variant G/C snv 7.8E-02 0.010 1.000 1 2017 2017
dbSNP: rs6737398
rs6737398
2 0.925 0.040 2 233261751 intron variant G/A snv 0.62 0.010 1.000 1 2017 2017