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: rs137852902
rs137852902
1 1.000 0.080 4 80055996 missense variant C/T snv 0.810 1.000 3 2003 2005
dbSNP: rs137852901
rs137852901
1 1.000 0.080 4 79983915 missense variant T/A;C snv 8.1E-06 0.800 1.000 3 2003 2005
dbSNP: rs137852903
rs137852903
1 1.000 0.080 4 80008576 missense variant A/C snv 0.800 1.000 3 2003 2005
dbSNP: rs137852905
rs137852905
1 1.000 0.080 4 80054342 missense variant A/G snv 0.800 1.000 3 2003 2005
dbSNP: rs781637328
rs781637328
1 1.000 0.080 4 80036017 missense variant A/G snv 2.3E-05 0.700 1.000 3 2003 2005
dbSNP: rs886041401
rs886041401
1 1.000 0.080 4 80072427 missense variant A/C;G snv 0.700 1.000 3 2003 2005
dbSNP: rs1560998734
rs1560998734
1 1.000 0.080 4 80018898 frameshift variant ACATTCTGTGGCTGTGACAATTAATGATCCTGAAATGACAGATTTTCCTCCATTAAAGCTCACTGAAACATCAAGAGTT/- del 0.700 1.000 1 2013 2013
dbSNP: rs797045028
rs797045028
1 1.000 0.080 4 79978049 frameshift variant G/- delins 0.700 1.000 1 2016 2016
dbSNP: rs797045029
rs797045029
1 1.000 0.080 4 80069491 missense variant A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs137852904
rs137852904
1 1.000 0.080 4 80036011 stop gained C/A;T snv 0.700 0
dbSNP: rs1553933367
rs1553933367
2 1.000 0.080 4 80018939 frameshift variant -/T delins 0.700 0
dbSNP: rs312262690
rs312262690
28 0.752 0.320 4 79984831 frameshift variant -/G;GG delins 1.7E-05 0.700 0
dbSNP: rs546102223
rs546102223
1 1.000 0.080 4 79983878 splice region variant C/T snv 0.700 0
dbSNP: rs886039907
rs886039907
2 0.925 0.120 4 79983909 missense variant C/T snv 0.700 0
dbSNP: rs1173040945
rs1173040945
1 1.000 0.080 4 80055957 missense variant G/T snv 0.010 1.000 1 2008 2008
dbSNP: rs117876855
rs117876855
1 1.000 0.080 13 81865224 intergenic variant A/G snv 1.1E-03 0.010 1.000 1 2017 2017
dbSNP: rs139544515
rs139544515
1 1.000 0.080 13 81823326 intergenic variant A/G snv 1.1E-03 0.010 1.000 1 2017 2017
dbSNP: rs148221738
rs148221738
1 1.000 0.080 1 39390663 intron variant G/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs183324967
rs183324967
1 1.000 0.080 1 39367374 intron variant T/A snv 3.7E-04 0.010 1.000 1 2017 2017
dbSNP: rs2606241
rs2606241
1 1.000 0.080 18 657443 intron variant A/C snv 0.66 0.010 1.000 1 2019 2019
dbSNP: rs2612091
rs2612091
3 0.882 0.160 18 683607 intron variant C/T snv 0.63 0.010 1.000 1 2015 2015
dbSNP: rs2741171
rs2741171
1 1.000 0.080 18 700687 intron variant T/C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs2853741
rs2853741
1 1.000 0.080 18 657352 intron variant T/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs3215400
rs3215400
CDA
1 1.000 0.080 1 20589097 5 prime UTR variant C/- delins 0.54 0.56 0.010 1.000 1 2011 2011
dbSNP: rs3737964
rs3737964
1 1.000 0.080 1 11806987 intron variant T/A;C;G snv 0.010 1.000 1 2019 2019