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: rs74315447
rs74315447
3 0.925 0.120 21 34370639 missense variant T/C snv 2.6E-04 2.3E-04 0.800 1.000 4 1999 2009
dbSNP: rs74315448
rs74315448
1 1.000 0.120 21 34370648 missense variant T/C snv 1.1E-03 6.1E-04 0.800 1.000 4 1999 2009
dbSNP: rs141423405
rs141423405
1 1.000 0.120 21 34370707 missense variant C/T snv 6.4E-05 4.2E-05 0.700 1.000 4 1999 2009
dbSNP: rs199473363
rs199473363
1 1.000 0.120 21 34370537 missense variant T/A snv 0.700 1.000 4 1999 2009
dbSNP: rs199473364
rs199473364
2 1.000 0.120 21 34370671 missense variant G/A;C snv 2.0E-05; 2.4E-05 0.700 1.000 4 1999 2009
dbSNP: rs199473365
rs199473365
1 1.000 0.120 21 34370708 missense variant G/A snv 8.0E-06 7.0E-06 0.700 1.000 4 1999 2009
dbSNP: rs74424227
rs74424227
1 1.000 0.120 21 34370759 missense variant A/G snv 1.0E-04 2.1E-05 0.700 1.000 4 1999 2009
dbSNP: rs74315449
rs74315449
3 0.882 0.120 21 34370557 missense variant C/A;T snv 4.0E-06; 1.3E-04 0.700 1.000 1 2004 2004
dbSNP: rs142153692
rs142153692
1 1.000 0.120 21 34370518 missense variant G/A;C snv 1.9E-04; 4.0E-06 0.700 0
dbSNP: rs148968498
rs148968498
1 1.000 0.120 21 34370558 missense variant G/A snv 6.4E-05 2.4E-04 0.700 0
dbSNP: rs16991654
rs16991654
2 0.925 0.120 21 34370656 missense variant T/A;C snv 4.0E-06 0.700 0