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: rs63750875
rs63750875
1 0.742 0.280 2 47475171 missense variant G/A;C snv 1.6E-05 0.800 1.000 17 2001 2017
dbSNP: rs17217772
rs17217772
1 0.790 0.240 2 47410107 missense variant A/C;G;T snv 5.8E-03 0.700 1.000 16 2001 2017
dbSNP: rs63751207
rs63751207
1 0.851 0.240 2 47466718 missense variant G/A;C;T snv 8.0E-06 0.800 1.000 14 2001 2017
dbSNP: rs587779067
rs587779067
1 0.882 0.200 2 47416399 missense variant C/G;T snv 0.800 1.000 37 1994 2017
dbSNP: rs63750070
rs63750070
1 0.882 0.160 2 47410245 missense variant T/C;G snv 0.800 1.000 37 1994 2017
dbSNP: rs587779163
rs587779163
1 0.882 0.160 2 47410220 missense variant T/G snv 0.700 1.000 34 1994 2017
dbSNP: rs146421227
rs146421227
1 0.882 0.160 2 47482912 missense variant T/A snv 7.0E-06 0.700 1.000 20 1994 2012
dbSNP: rs17224367
rs17224367
2 0.882 0.160 2 47429833 missense variant C/G;T snv 1.5E-03 0.700 0
dbSNP: rs63751236
rs63751236
1 0.882 0.160 2 47475064 missense variant C/G;T snv 0.700 0
dbSNP: rs63750232
rs63750232
1 0.925 0.160 2 47476435 missense variant G/A;C;T snv 0.700 1.000 37 1994 2017
dbSNP: rs63750398
rs63750398
1 0.925 0.160 2 47476451 missense variant G/A;T snv 0.800 1.000 37 1994 2017
dbSNP: rs267608022
rs267608022
1 0.925 0.200 2 47482858 missense variant C/G;T snv 8.0E-06; 8.4E-05 0.700 1.000 36 1994 2017
dbSNP: rs55778204
rs55778204
1 0.925 0.160 2 47470993 missense variant A/G snv 2.3E-04 7.7E-05 0.700 1.000 36 1994 2017
dbSNP: rs63750214
rs63750214
1 0.925 0.160 2 47410215 missense variant T/A;C;G snv 4.0E-06 0.800 1.000 36 1994 2017
dbSNP: rs267607994
rs267607994
1 0.925 0.160 2 47476448 missense variant C/T snv 0.700 1.000 34 1994 2017
dbSNP: rs267607996
rs267607996
1 0.925 0.160 2 47476382 missense variant G/A;C snv 0.700 1.000 34 1994 2017
dbSNP: rs63750234
rs63750234
1 0.925 0.160 2 47476381 missense variant G/A;C snv 0.700 1.000 34 1994 2017
dbSNP: rs63750582
rs63750582
1 0.925 0.160 2 47410217 missense variant G/A;T snv 0.700 1.000 34 1994 2017
dbSNP: rs63751656
rs63751656
1 0.925 0.160 2 47466807 stop gained A/C;G;T snv 0.700 1.000 34 1994 2017
dbSNP: rs63750492
rs63750492
2 0.925 0.160 2 47466663 missense variant G/T snv 0.700 1.000 20 1994 2012
dbSNP: rs63750624
rs63750624
1 0.925 0.160 2 47410211 missense variant G/A snv 0.800 1.000 20 1994 2016
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
1 0.925 0.160 2 47475130 missense variant C/A;G;T snv 0.800 1.000 17 2001 2017
dbSNP: rs28929484
rs28929484
1 0.925 0.160 2 47475180 missense variant C/T snv 0.800 1.000 17 2001 2017
dbSNP: rs63750849
rs63750849
1 0.925 0.160 2 47480816 stop gained C/A;T snv 8.0E-06 0.800 1.000 17 2001 2017