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: rs121913487
rs121913487
2 0.925 0.120 13 28018503 missense variant A/C;T snv 0.800 1.000 15 2001 2014
dbSNP: rs121913488
rs121913488
7 0.807 0.120 13 28018505 missense variant C/A;G;T snv 0.740 1.000 22 2001 2019
dbSNP: rs1057519766
rs1057519766
5 0.851 0.080 13 28028203 missense variant G/C;T snv 0.720 1.000 3 2013 2016
dbSNP: rs121913232
rs121913232
2 0.925 0.120 13 28018500 missense variant G/C snv 0.710 1.000 9 2003 2014
dbSNP: rs376588714
rs376588714
1 1.000 0.040 13 28018483 missense variant T/C snv 2.4E-05 1.4E-05 0.710 1.000 4 2005 2014
dbSNP: rs1057519764
rs1057519764
1 1.000 0.040 13 28027222 missense variant A/C;T snv 0.710 1.000 2 2012 2019
dbSNP: rs1057520026
rs1057520026
2 0.925 0.040 13 28028244 missense variant T/G snv 0.710 1.000 1 2006 2006
dbSNP: rs121909646
rs121909646
3 0.882 0.120 13 28018504 missense variant T/A;G snv 0.700 1.000 17 2001 2014
dbSNP: rs1057519726
rs1057519726
1 1.000 0.040 13 28018502 missense variant T/A;C;G snv 0.700 1.000 9 2005 2013
dbSNP: rs1057519762
rs1057519762
1 1.000 0.040 13 28018484 missense variant A/G snv 0.700 1.000 3 2012 2014
dbSNP: rs1057519765
rs1057519765
1 1.000 0.040 13 28027236 missense variant T/A;C snv 4.0E-06 0.700 1.000 3 2012 2014
dbSNP: rs1057519767
rs1057519767
1 1.000 0.040 13 28028205 missense variant T/C snv 0.700 1.000 3 2012 2014
dbSNP: rs1057519768
rs1057519768
1 1.000 0.040 13 28028279 missense variant T/C snv 0.700 1.000 3 2012 2014
dbSNP: rs1057519769
rs1057519769
1 1.000 0.040 13 28033974 missense variant C/A snv 0.700 1.000 3 2012 2014
dbSNP: rs1057519763
rs1057519763
1 1.000 0.040 13 28018504 missense variant TC/AA mnv 0.700 1.000 1 2012 2012
dbSNP: rs1057520021
rs1057520021
1 1.000 0.040 13 28034139 missense variant A/C;G snv 4.0E-06 0.700 1.000 1 2006 2006
dbSNP: rs1057520022
rs1057520022
1 1.000 0.040 13 28034183 missense variant A/G snv 4.0E-06 0.700 1.000 1 2006 2006
dbSNP: rs1057520023
rs1057520023
1 1.000 0.040 13 28018501 missense variant A/C snv 0.700 1.000 1 2004 2004
dbSNP: rs1057520024
rs1057520024
1 1.000 0.040 13 28034147 missense variant T/C snv 4.0E-06; 4.0E-06 0.700 1.000 1 2005 2005
dbSNP: rs1057520025
rs1057520025
1 1.000 0.040 13 28034144 missense variant A/G snv 0.700 1.000 1 2006 2006
dbSNP: rs1057520043
rs1057520043
1 1.000 0.040 13 28034148 missense variant A/C snv 0.700 1.000 1 2005 2005
dbSNP: rs121913486
rs121913486
1 1.000 0.040 13 28018503 inframe deletion ATC/- del 0.700 1.000 1 2014 2014
dbSNP: rs121913490
rs121913490
1 1.000 0.040 13 28018498 inframe deletion GAT/- delins 0.700 1.000 1 2014 2014
dbSNP: rs121913491
rs121913491
1 1.000 0.040 13 28034204 missense variant T/C snv 2.0E-05 7.0E-06 0.700 1.000 1 2014 2014
dbSNP: rs749281035
rs749281035
1 1.000 0.040 13 28018485 missense variant G/A;T snv 4.0E-06 0.700 1.000 1 2005 2005