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: rs121434372
rs121434372
1 1.000 0.120 19 12897818 missense variant G/A snv 1.1E-04 1.4E-04 0.820 1.000 14 1995 2016
dbSNP: rs121434367
rs121434367
1 1.000 0.120 19 12899486 missense variant C/T snv 1.2E-04 2.7E-04 0.810 1.000 14 1991 2017
dbSNP: rs121434369
rs121434369
1 1.000 0.120 19 12897824 missense variant C/T snv 3.2E-04 1.9E-04 0.810 1.000 14 1995 2017
dbSNP: rs121434368
rs121434368
2 0.925 0.120 19 12899471 missense variant C/T snv 0.810 1.000 8 1995 2014
dbSNP: rs786204626
rs786204626
1 1.000 0.120 19 12897825 missense variant G/A snv 4.0E-06 0.800 1.000 16 1995 2017
dbSNP: rs150938052
rs150938052
1 1.000 0.120 19 12897767 missense variant C/T snv 1.6E-05 7.0E-05 0.800 1.000 15 1995 2014
dbSNP: rs372983141
rs372983141
1 1.000 0.120 19 12897788 missense variant G/C snv 1.2E-05 5.6E-05 0.800 1.000 10 1995 2014
dbSNP: rs778153326
rs778153326
1 1.000 0.120 19 12897789 missense variant G/C;T snv 4.0E-06 0.800 1.000 10 1995 2014
dbSNP: rs567564095
rs567564095
1 1.000 0.120 19 12897764 missense variant G/A snv 4.0E-06 2.8E-05 0.800 0
dbSNP: rs141437721
rs141437721
1 1.000 0.120 19 12897833 missense variant A/G snv 6.0E-05; 1.6E-05 1.7E-04 0.710 1.000 5 2007 2016
dbSNP: rs147611168
rs147611168
1 1.000 0.120 19 12897860 stop gained G/A;T snv 4.4E-05 1.3E-04 0.710 1.000 4 1996 2009
dbSNP: rs199999619
rs199999619
1 1.000 0.120 19 12899466 splice acceptor variant A/C;G snv 8.8E-05 2.8E-05 0.700 1.000 8 2000 2019
dbSNP: rs1282266790
rs1282266790
1 1.000 0.120 19 12897794 missense variant A/G snv 4.0E-06 0.700 1.000 7 1995 2014
dbSNP: rs151201155
rs151201155
1 1.000 0.120 19 12899485 missense variant G/A snv 2.0E-04 6.0E-04 0.700 1.000 7 1995 2014
dbSNP: rs1555751379
rs1555751379
1 1.000 0.120 19 12897840 missense variant T/C snv 0.700 1.000 7 1995 2014
dbSNP: rs764608975
rs764608975
1 1.000 0.120 19 12897768 missense variant G/A snv 1.6E-05 2.8E-05 0.700 1.000 7 1995 2014
dbSNP: rs752127949
rs752127949
1 1.000 0.120 19 12897776 stop gained C/G;T snv 1.6E-05; 8.0E-06 0.700 1.000 5 1996 2017
dbSNP: rs776082304
rs776082304
1 1.000 0.120 19 12897859 stop gained C/A;G;T snv 4.0E-05 0.700 1.000 5 1995 2010
dbSNP: rs398123190
rs398123190
1 1.000 0.120 19 12897777 missense variant G/A;C snv 8.0E-06; 1.2E-05 0.700 1.000 4 2000 2019
dbSNP: rs745360675
rs745360675
1 1.000 0.120 19 12899510 missense variant C/T snv 8.0E-06 0.700 1.000 3 1998 2014
dbSNP: rs754002357
rs754002357
1 1.000 0.120 19 12897787 frameshift variant G/-;GG delins 8.0E-06 0.700 1.000 3 1996 2015
dbSNP: rs1555751995
rs1555751995
1 1.000 0.120 19 12899541 stop lost A/G snv 0.700 1.000 2 2000 2010
dbSNP: rs1348974766
rs1348974766
1 1.000 0.120 19 12897743 missense variant T/C snv 7.0E-06 0.700 0
dbSNP: rs1568429257
rs1568429257
1 1.000 0.120 19 12897787 frameshift variant -/T ins 0.700 0
dbSNP: rs771924230
rs771924230
1 1.000 0.120 19 12897734 missense variant A/C;G snv 8.0E-06 0.700 0