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: rs137853143
rs137853143
1 1.000 0.200 19 18599736 missense variant A/C;G snv 4.4E-06 0.800 1.000 7 2003 2014
dbSNP: rs104894668
rs104894668
2 0.925 0.200 19 18594338 missense variant A/C snv 0.700 1.000 7 2003 2014
dbSNP: rs104894670
rs104894670
1 1.000 0.200 19 18599720 missense variant C/T snv 2.6E-05 4.9E-05 0.700 1.000 7 2003 2014
dbSNP: rs1295488778
rs1295488778
1 1.000 0.200 19 18599741 missense variant A/G snv 3.5E-05 0.700 1.000 7 2003 2014
dbSNP: rs137853927
rs137853927
2 0.925 0.200 19 18596895 missense variant C/A snv 0.700 1.000 7 2003 2014
dbSNP: rs137853930
rs137853930
2 0.925 0.200 19 18598886 missense variant G/A snv 0.700 1.000 7 2003 2014
dbSNP: rs137853933
rs137853933
2 0.925 0.200 19 18596711 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.700 1.000 7 2003 2014
dbSNP: rs556029569
rs556029569
1 1.000 0.200 19 18598483 missense variant G/A snv 1.1E-04 3.5E-05 0.700 1.000 7 2003 2014
dbSNP: rs761982168
rs761982168
1 1.000 0.200 19 18596944 missense variant A/G snv 4.0E-06 0.700 1.000 7 2003 2014
dbSNP: rs774359694
rs774359694
1 1.000 0.200 19 18599621 missense variant A/G snv 4.0E-06 0.700 1.000 7 2003 2014
dbSNP: rs137853144
rs137853144
1 1.000 0.200 19 18594357 stop gained T/A snv 0.700 0
dbSNP: rs137853145
rs137853145
2 0.925 0.200 19 18596918 stop gained G/A;C;T snv 4.0E-06; 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs137853928
rs137853928
1 1.000 0.200 19 18596901 frameshift variant AC/- delins 7.0E-06 0.700 0
dbSNP: rs748847434
rs748847434
1 1.000 0.200 19 18598767 splice region variant C/G;T snv 1.2E-05 0.700 0
dbSNP: rs768727082
rs768727082
1 1.000 0.200 19 18597033 frameshift variant -/G delins 9.0E-05; 4.1E-06 6.3E-05 0.700 0
dbSNP: rs771459625
rs771459625
1 1.000 0.200 19 18596628 missense variant G/A;C snv 2.4E-05 2.1E-05 0.700 0
dbSNP: rs780705654
rs780705654
2 0.925 0.200 7 23167916 missense variant C/A;T snv 4.0E-06; 8.0E-06 0.700 0
dbSNP: rs879255556
rs879255556
2 0.925 0.200 7 23167919 missense variant T/A snv 0.700 0
dbSNP: rs879255557
rs879255557
2 0.925 0.200 7 23165780 frameshift variant T/- delins 0.700 0
dbSNP: rs879255558
rs879255558
2 0.925 0.200 7 23165876 missense variant G/A snv 0.700 0