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: rs121908682
rs121908682
1 1.000 0.040 22 38132979 missense variant A/T snv 1.1E-05 0.800 1.000 3 2006 2013
dbSNP: rs587784327
rs587784327
2 1.000 0.040 22 38129523 missense variant C/T snv 0.710 1.000 6 2009 2017
dbSNP: rs121908686
rs121908686
6 0.882 0.120 22 38112558 missense variant C/T snv 9.0E-05 0.710 1.000 5 2009 2016
dbSNP: rs121908680
rs121908680
4 0.882 0.080 22 38112212 stop gained A/C snv 8.2E-05 6.3E-05 0.700 1.000 7 2006 2016
dbSNP: rs587784339
rs587784339
2 1.000 0.040 22 38115658 stop gained G/A snv 4.8E-05 7.0E-06 0.700 1.000 4 2006 2015
dbSNP: rs200075782
rs200075782
2 1.000 0.040 22 38169318 stop gained G/A snv 3.6E-05 1.4E-05 0.700 1.000 3 2006 2010
dbSNP: rs767689496
rs767689496
1 1.000 0.040 22 38115579 missense variant G/A snv 8.0E-06 0.700 1.000 3 2006 2013
dbSNP: rs764959600
rs764959600
3 1.000 0.040 22 38169424 start lost C/A;T snv 4.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs121908687
rs121908687
3 0.882 0.080 22 38112541 missense variant G/A snv 2.6E-05 0.700 0
dbSNP: rs1465629909
rs1465629909
1 1.000 0.040 22 38120911 splice acceptor variant T/G snv 4.0E-06 0.700 0
dbSNP: rs1555979401
rs1555979401
1 1.000 0.040 22 38116212 splice acceptor variant C/G snv 0.700 0
dbSNP: rs1555988204
rs1555988204
1 1.000 0.040 22 38123137 frameshift variant -/GC delins 0.700 0
dbSNP: rs1556010444
rs1556010444
1 1.000 0.040 22 38135048 missense variant C/G snv 0.700 0
dbSNP: rs1569243565
rs1569243565
1 1.000 0.040 22 38115630 frameshift variant A/- delins 0.700 0
dbSNP: rs1569264087
rs1569264087
1 1.000 0.040 22 38132946 missense variant A/G snv 0.700 0
dbSNP: rs199935023
rs199935023
4 0.882 0.040 22 38132917 missense variant C/A;T snv 4.9E-05; 3.6E-05 0.700 0
dbSNP: rs530348521
rs530348521
1 1.000 0.040 22 38112559 missense variant G/A snv 6.5E-06 3.5E-05 0.700 0
dbSNP: rs587784343
rs587784343
3 0.925 0.080 22 38113617 inframe deletion AAC/- delins 0.700 0
dbSNP: rs587784347
rs587784347
38 0.742 0.280 22 38113561 missense variant G/A snv 8.0E-06 0.700 0
dbSNP: rs587784353
rs587784353
3 0.925 0.080 22 38112211 stop gained CA/- del 3.3E-05 2.8E-05 0.700 0
dbSNP: rs587784363
rs587784363
2 1.000 0.040 22 38132922 missense variant C/A;T snv 2.4E-05 0.700 0
dbSNP: rs750939090
rs750939090
3 0.882 0.080 22 38126370 splice donor variant C/T snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs761815070
rs761815070
2 1.000 0.040 22 38129453 splice donor variant C/A;T snv 1.2E-05; 4.0E-06 0.700 0
dbSNP: rs1461947940
rs1461947940
1 1.000 0.040 22 38115615 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs780116189
rs780116189
1 1.000 0.040 22 38132958 missense variant C/A;T snv 0.010 1.000 1 2016 2016