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: rs137852616
rs137852616
2 0.925 0.080 21 44900367 missense variant C/T snv 4.0E-05 2.8E-05 0.800 1.000 14 1990 2010
dbSNP: rs137852609
rs137852609
2 0.925 0.080 21 44889376 missense variant G/A snv 1.6E-05 1.4E-05 0.800 1.000 12 1990 2010
dbSNP: rs137852615
rs137852615
2 0.925 0.080 21 44903482 missense variant C/A;T snv 8.0E-06 0.800 1.000 11 1990 2010
dbSNP: rs137852618
rs137852618
2 0.925 0.080 21 44900400 missense variant C/T snv 1.6E-05 6.3E-05 0.800 1.000 11 1990 2010
dbSNP: rs179363873
rs179363873
1 1.000 0.080 21 44901518 missense variant C/T snv 0.800 0
dbSNP: rs179363874
rs179363874
1 1.000 0.080 21 44899161 missense variant T/A snv 0.710 1.000 1 2010 2010
dbSNP: rs137852610
rs137852610
2 0.925 0.080 21 44901646 missense variant T/C;G snv 4.0E-06 0.700 1.000 11 1990 2010
dbSNP: rs137852611
rs137852611
2 0.925 0.080 21 44903418 missense variant A/G snv 0.700 1.000 11 1990 2010
dbSNP: rs137852612
rs137852612
2 0.925 0.080 21 44901728 missense variant C/T snv 0.700 1.000 11 1990 2010
dbSNP: rs137852613
rs137852613
2 0.925 0.080 21 44895002 missense variant T/C snv 0.700 1.000 11 1990 2010
dbSNP: rs137852614
rs137852614
2 0.925 0.080 21 44901700 missense variant G/A snv 1.6E-05 2.1E-05 0.700 1.000 11 1990 2010
dbSNP: rs137852617
rs137852617
2 0.925 0.080 21 44903452 missense variant A/G snv 0.700 1.000 11 1990 2010
dbSNP: rs201752283
rs201752283
2 0.925 0.080 21 44900319 splice donor variant C/A;T snv 2.0E-05 0.700 1.000 4 1992 2016
dbSNP: rs1568879914
rs1568879914
1 1.000 0.080 21 44888813 frameshift variant -/GA ins 0.700 0
dbSNP: rs179363872
rs179363872
1 1.000 0.080 21 44886836 missense variant C/G snv 0.700 0
dbSNP: rs483352813
rs483352813
1 1.000 0.080 21 44901656 frameshift variant -/G delins 4.0E-06 0.700 0
dbSNP: rs483352814
rs483352814
1 1.000 0.080 21 44901527 missense variant C/T snv 4.0E-06 0.700 0
dbSNP: rs483352815
rs483352815
1 1.000 0.080 21 44900374 frameshift variant G/- delins 0.700 0
dbSNP: rs483352816
rs483352816
1 1.000 0.080 21 44895024 stop gained C/A;T snv 0.700 0
dbSNP: rs483352817
rs483352817
1 1.000 0.080 21 44893485 frameshift variant G/- delins 0.700 0
dbSNP: rs483352818
rs483352818
1 1.000 0.080 21 44889274 splice donor variant A/G snv 0.700 0
dbSNP: rs483352819
rs483352819
1 1.000 0.080 21 44888866 frameshift variant T/- delins 0.700 0
dbSNP: rs5030672
rs5030672
1 1.000 0.080 21 44889397 missense variant G/A snv 8.6E-03 8.3E-03 0.700 0
dbSNP: rs148877937
rs148877937
1 1.000 0.080 21 44901671 stop gained G/A snv 3.6E-05 1.4E-05 0.010 1.000 1 2010 2010
dbSNP: rs745917556
rs745917556
1 1.000 0.080 21 44903464 missense variant C/T snv 8.0E-06 0.010 1.000 1 2006 2006