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: rs193922373
rs193922373
1 1.000 0.160 2 47408493 missense variant G/A snv 2.4E-05 0.700 1.000 20 1994 2012
dbSNP: rs267607938
rs267607938
1 1.000 0.160 2 47416344 missense variant A/G snv 8.0E-06 2.8E-05 0.700 1.000 20 1994 2012
dbSNP: rs267607959
rs267607959
1 1.000 0.160 2 47463053 missense variant T/A;C snv 4.0E-06 0.700 1.000 20 1994 2012
dbSNP: rs267607981
rs267607981
1 1.000 0.160 2 47475177 missense variant A/G snv 0.700 1.000 20 1994 2012
dbSNP: rs267608016
rs267608016
1 1.000 0.160 2 47480754 missense variant T/A snv 8.0E-06 2.8E-05 0.700 1.000 20 1994 2012
dbSNP: rs267608023
rs267608023
1 1.000 0.160 2 47482936 missense variant A/C snv 0.700 1.000 20 1994 2012
dbSNP: rs34136999
rs34136999
1 1.000 0.160 2 47414291 missense variant C/T snv 3.0E-04 4.5E-04 0.700 1.000 20 1994 2012
dbSNP: rs41295288
rs41295288
1 1.000 0.160 2 47475052 missense variant A/G snv 3.2E-04 2.2E-04 0.700 1.000 20 1994 2012
dbSNP: rs587779085
rs587779085
1 1.000 0.160 2 47403322 missense variant C/A;T snv 4.4E-06; 4.4E-06 0.700 1.000 20 1994 2012
dbSNP: rs587779116
rs587779116
1 1.000 0.160 2 47475181 missense variant A/G snv 0.700 1.000 20 1994 2012
dbSNP: rs587779128
rs587779128
1 1.000 0.160 2 47476384 missense variant AAA/GCC mnv 0.700 1.000 20 1994 2012
dbSNP: rs63750027
rs63750027
1 1.000 0.160 2 47480753 missense variant A/G snv 2.4E-05 4.2E-05 0.700 1.000 20 1994 2012
dbSNP: rs63750124
rs63750124
1 1.000 0.160 2 47410162 missense variant T/G snv 3.2E-04 3.1E-04 0.700 1.000 20 1994 2012
dbSNP: rs63750255
rs63750255
1 1.000 0.160 2 47410226 missense variant G/C snv 8.7E-05 7.0E-05 0.700 1.000 20 1994 2012
dbSNP: rs63750285
rs63750285
1 1.000 0.160 2 47403325 missense variant C/T snv 4.4E-06 0.700 1.000 20 1994 2012
dbSNP: rs63750350
rs63750350
1 1.000 0.160 2 47482801 missense variant A/G snv 0.700 1.000 20 1994 2012
dbSNP: rs63750381
rs63750381
1 1.000 0.160 2 47414323 missense variant G/T snv 4.0E-06 0.700 1.000 20 1994 2012
dbSNP: rs63750466
rs63750466
1 1.000 0.160 2 47403195 missense variant G/A snv 1.5E-04 7.7E-05 0.700 1.000 20 1994 2012
dbSNP: rs63750492
rs63750492
2 0.925 0.160 2 47466663 missense variant G/T snv 0.700 1.000 20 1994 2012
dbSNP: rs63750602
rs63750602
1 1.000 0.160 2 47416357 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.700 1.000 20 1994 2012
dbSNP: rs63750657
rs63750657
1 1.000 0.160 2 47475072 missense variant G/A;C;T snv 0.700 1.000 20 1994 2012
dbSNP: rs63750716
rs63750716
2 0.925 0.160 2 47410232 missense variant A/G snv 4.7E-04 1.3E-04 0.700 1.000 20 1994 2012
dbSNP: rs28929483
rs28929483
4 0.925 0.160 2 47475130 missense variant C/A;G;T snv 0.800 1.000 17 2001 2017
dbSNP: rs28929484
rs28929484
3 0.925 0.160 2 47475180 missense variant C/T snv 0.800 1.000 17 2001 2017
dbSNP: rs63751062
rs63751062
1 1.000 0.160 2 47416359 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 17 2001 2017