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: rs72552778
rs72552778
5 0.827 0.040 7 87447080 missense variant G/A snv 1.6E-04 1.7E-04 0.810 1.000 7 2001 2017
dbSNP: rs121918442
rs121918442
1 1.000 0.040 7 87406293 missense variant G/A;T snv 2.4E-05 0.710 1.000 7 2001 2017
dbSNP: rs8187797
rs8187797
1 1.000 0.040 7 87439814 missense variant C/G snv 2.1E-03 8.7E-03 0.710 1.000 7 2001 2017
dbSNP: rs1051861187
rs1051861187
6 0.827 0.080 7 87409385 missense variant A/G snv 0.710 1.000 1 2019 2019
dbSNP: rs1257887155
rs1257887155
2 0.925 0.040 7 87440228 missense variant C/T snv 7.0E-06 0.700 1.000 6 2001 2017
dbSNP: rs1262922848
rs1262922848
1 1.000 0.040 7 87408066 missense variant G/A snv 0.700 1.000 6 2001 2017
dbSNP: rs1408217402
rs1408217402
1 1.000 0.040 7 87454583 missense variant G/A snv 4.0E-06 0.700 1.000 6 2001 2017
dbSNP: rs142794414
rs142794414
1 1.000 0.040 7 87472655 missense variant G/A;T snv 4.8E-04; 8.0E-06; 4.0E-06 1.2E-03 0.700 1.000 6 2001 2017
dbSNP: rs571555115
rs571555115
1 1.000 0.040 7 87431519 missense variant G/A snv 3.2E-05 2.8E-05 0.700 1.000 6 2001 2017
dbSNP: rs66904256
rs66904256
3 0.882 0.080 7 87439777 missense variant T/A snv 0.700 1.000 6 2001 2017
dbSNP: rs72552776
rs72552776
1 1.000 0.040 7 87431525 missense variant A/T snv 4.0E-06 0.700 1.000 6 2001 2017
dbSNP: rs72552779
rs72552779
1 1.000 0.040 7 87447137 missense variant A/G snv 0.700 1.000 6 2001 2017
dbSNP: rs759787957
rs759787957
1 1.000 0.040 7 87411894 missense variant G/C snv 4.0E-06 0.700 1.000 6 2001 2017
dbSNP: rs761238221
rs761238221
1 1.000 0.040 7 87439752 missense variant C/A;T snv 8.0E-06; 3.6E-05 0.700 1.000 6 2001 2017
dbSNP: rs765478923
rs765478923
2 0.925 0.040 7 87447182 missense variant G/A snv 1.6E-05 2.8E-05 0.700 1.000 6 2001 2017
dbSNP: rs8187788
rs8187788
2 0.925 0.040 7 87462827 missense variant G/C snv 7.2E-04 7.3E-04 0.700 1.000 6 2001 2017
dbSNP: rs1411970557
rs1411970557
1 1.000 0.040 7 87462811 missense variant A/C snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs141677867
rs141677867
1 1.000 0.040 7 87423940 missense variant G/A snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs375315619
rs375315619
4 0.851 0.080 7 87440230 missense variant T/C snv 2.0E-04 9.8E-05 0.700 0
dbSNP: rs387906528
rs387906528
2 0.925 0.040 7 87443346 frameshift variant CT/TTG delins 0.700 0
dbSNP: rs397514620
rs397514620
1 1.000 0.040 7 87439765 missense variant G/A;C snv 8.0E-06 0.700 0
dbSNP: rs45575636
rs45575636
3 0.882 0.080 7 87431528 missense variant C/G;T snv 4.0E-06; 4.5E-03 0.700 0
dbSNP: rs780641693
rs780641693
1 1.000 0.040 7 87462832 missense variant A/T snv 4.0E-06 0.700 0
dbSNP: rs970324585
rs970324585
1 1.000 0.040 7 87423931 missense variant G/A snv 0.700 0
dbSNP: rs972726699
rs972726699
1 1.000 0.040 7 87426875 missense variant C/T snv 8.0E-06 7.0E-06 0.700 0