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: rs10980800
rs10980800
3 9 111153625 intron variant T/C snv 0.21 0.700 1.000 3 2011 2017
dbSNP: rs1449263
rs1449263
5 1.000 0.080 2 181454574 upstream gene variant C/T snv 0.56 0.700 1.000 3 2011 2018
dbSNP: rs9880192
rs9880192
5 1.000 0.040 3 128578726 upstream gene variant G/A;C snv 0.31 0.700 1.000 3 2011 2017
dbSNP: rs3095254
rs3095254
3 6 31253891 intergenic variant C/A;G snv 0.55 0.700 1.000 2 2011 2014
dbSNP: rs10098310
rs10098310
3 8 129601368 intron variant G/A;T snv 0.700 1.000 1 2011 2011
dbSNP: rs10147992
rs10147992
3 14 25034593 intron variant A/G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs10956483
rs10956483
3 8 129559864 intron variant G/A;C snv 0.700 1.000 1 2011 2011
dbSNP: rs12988934
rs12988934
3 2 181458938 non coding transcript exon variant C/T snv 5.9E-02 0.700 1.000 1 2011 2011
dbSNP: rs7578982
rs7578982
4 2 111078961 intron variant T/C snv 0.27 0.700 1.000 1 2011 2011
dbSNP: rs2124440
rs2124440
2 2 181463487 intron variant G/A snv 0.55 0.700 1.000 3 2013 2017
dbSNP: rs2228468
rs2228468
6 0.882 0.120 3 42865620 missense variant A/C;T snv 0.43; 8.3E-03 0.700 1.000 3 2013 2018
dbSNP: rs2228467
rs2228467
8 1.000 0.080 3 42864624 missense variant T/C snv 5.1E-02 4.7E-02 0.700 1.000 2 2013 2016
dbSNP: rs2273788
rs2273788
2 9 111586337 intron variant C/T snv 0.25 0.700 1.000 1 2013 2013
dbSNP: rs2712381
rs2712381
2 3 128619757 downstream gene variant A/C snv 0.61 0.700 1.000 1 2013 2013
dbSNP: rs424971
rs424971
2 16 85912844 intron variant T/C snv 0.53 0.700 1.000 1 2013 2013
dbSNP: rs1991866
rs1991866
3 8 129611859 intron variant G/A;C snv 0.700 1.000 2 2014 2017
dbSNP: rs12346772
rs12346772
2 9 111158319 intron variant A/G snv 0.18 0.700 1.000 1 2014 2014
dbSNP: rs1375493
rs1375493
3 2 181459039 non coding transcript exon variant G/A snv 0.56 0.700 1.000 1 2014 2014
dbSNP: rs2047076
rs2047076
2 5 76762684 intergenic variant C/T snv 0.14 0.700 1.000 1 2014 2014
dbSNP: rs10980797
rs10980797
3 9 111150273 intron variant A/G;T snv 0.700 1.000 2 2016 2018
dbSNP: rs1892548
rs1892548
2 13 40428504 intron variant T/A;C snv 0.700 1.000 2 2016 2018
dbSNP: rs2239630
rs2239630
6 0.925 0.160 14 23120140 upstream gene variant A/C;G snv 0.700 1.000 2 2016 2018
dbSNP: rs445
rs445
9 7 92779056 intron variant C/T snv 0.14 0.700 1.000 2 2016 2018
dbSNP: rs4970966
rs4970966
2 1 150611627 intron variant G/T snv 0.16 0.700 1.000 2 2016 2018
dbSNP: rs76428106
rs76428106
10 0.851 0.040 13 28029870 intron variant T/C;G snv 0.700 1.000 2 2016 2017