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: rs121918413
rs121918413
3 1.000 0.120 5 151851470 missense variant G/T snv 0.730 1.000 3 1999 2004
dbSNP: rs121918408
rs121918408
2 1.000 0.120 5 151851406 missense variant C/A;T snv 0.720 1.000 2 1995 2006
dbSNP: rs121918410
rs121918410
2 1.000 0.120 5 151829060 missense variant T/C;G snv 4.0E-06 0.710 1.000 1 2002 2002
dbSNP: rs121918412
rs121918412
2 1.000 0.120 5 151851392 missense variant T/C snv 0.710 1.000 1 1996 1996
dbSNP: rs121918416
rs121918416
4 0.882 0.160 5 151851440 missense variant C/T snv 0.710 1.000 1 2016 2016
dbSNP: rs121918417
rs121918417
2 1.000 0.120 5 151851525 missense variant G/C snv 0.710 1.000 1 2002 2002
dbSNP: rs281864920
rs281864920
1 5 151851410 missense variant A/C;T snv 0.710 1.000 1 2003 2003
dbSNP: rs121908493
rs121908493
2 1.000 11 20617755 stop gained C/A snv 8.0E-06 3.5E-05 0.700 0
dbSNP: rs121908494
rs121908494
2 1.000 11 20628056 missense variant A/G snv 1.2E-05 3.5E-05 0.700 0
dbSNP: rs121908495
rs121908495
2 1.000 11 20638477 stop gained C/T snv 4.0E-06 0.700 0
dbSNP: rs121908496
rs121908496
2 1.000 11 20607583 missense variant C/G snv 0.700 0
dbSNP: rs121908497
rs121908497
2 1.000 11 20630717 missense variant A/G snv 4.0E-06 0.700 0
dbSNP: rs121908498
rs121908498
2 1.000 11 20626721 missense variant C/A;T snv 8.0E-06; 3.6E-05 0.700 0
dbSNP: rs121909749
rs121909749
2 1.000 4 157143807 missense variant G/A snv 0.700 0
dbSNP: rs121918409
rs121918409
2 1.000 0.120 5 151851487 missense variant A/T snv 0.700 0
dbSNP: rs121918411
rs121918411
2 1.000 0.120 5 151851420 missense variant C/A;G snv 0.700 0
dbSNP: rs121918415
rs121918415
2 1.000 0.120 5 151855047 stop gained G/A;T snv 0.700 0
dbSNP: rs281864916
rs281864916
1 5 151851565 missense variant C/A;T snv 4.0E-06; 8.0E-06 0.700 0
dbSNP: rs281864917
rs281864917
1 5 151851501 missense variant C/G snv 0.700 0
dbSNP: rs281864921
rs281864921
2 1.000 0.120 5 151829059 frameshift variant A/- del 0.700 0
dbSNP: rs281864922
rs281864922
2 1.000 4 157136891 splice region variant G/A snv 4.8E-05 3.5E-05 0.700 0
dbSNP: rs281864923
rs281864923
1 11 20601444 frameshift variant C/- delins 0.700 0
dbSNP: rs281864924
rs281864924
2 1.000 11 20626741 frameshift variant G/TT delins 0.700 0
dbSNP: rs281864925
rs281864925
1 11 20628028 missense variant T/C snv 0.700 0
dbSNP: rs281864926
rs281864926
2 1.000 11 20630721 missense variant T/G snv 4.0E-06 0.700 0