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: rs267608023
rs267608023
1 1.000 0.160 2 47482936 missense variant A/C snv 0.700 1.000 20 1994 2012
dbSNP: rs63750571
rs63750571
1 1.000 0.160 2 47480770 missense variant A/C;G snv 4.0E-06; 4.0E-06 0.700 1.000 37 1994 2017
dbSNP: rs63751107
rs63751107
1 1.000 0.160 2 47403288 missense variant A/C;G snv 6.7E-05; 1.3E-05 0.700 1.000 17 2001 2017
dbSNP: rs63750797
rs63750797
1 1.000 0.160 2 47480795 missense variant A/C;G snv 1.2E-05; 4.0E-06 0.700 1.000 16 2001 2017
dbSNP: rs63750838
rs63750838
1 1.000 0.160 2 47466801 missense variant A/C;G snv 0.700 1.000 14 2001 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: 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: rs201118107
rs201118107
1 1.000 0.160 2 47471051 missense variant A/C;G;T snv 8.0E-06; 1.0E-04; 1.2E-05 0.700 1.000 16 2001 2017
dbSNP: rs63750881
rs63750881
1 0.925 0.160 2 47412504 stop gained A/C;G;T snv 0.700 1.000 14 2001 2017
dbSNP: rs63749936
rs63749936
1 1.000 0.160 2 47412414 missense variant A/C;G;T snv 4.0E-06; 8.0E-06 0.700 0
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: rs61756468
rs61756468
1 1.000 0.160 2 47475151 missense variant A/G snv 1.2E-03 4.1E-04 0.700 1.000 36 1994 2017
dbSNP: rs63750327
rs63750327
1 1.000 0.160 2 47410320 missense variant A/G snv 0.700 1.000 34 1994 2017
dbSNP: rs1553350676
rs1553350676
1 1.000 0.160 2 47410143 missense variant A/G snv 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: rs267607981
rs267607981
1 1.000 0.160 2 47475177 missense variant A/G snv 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: rs587779116
rs587779116
1 1.000 0.160 2 47475181 missense variant A/G snv 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: rs63750350
rs63750350
1 1.000 0.160 2 47482801 missense variant A/G 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: rs1085308057
rs1085308057
1 0.925 0.160 2 47475244 missense variant A/G snv 0.700 0
dbSNP: rs63749841
rs63749841
1 1.000 0.160 2 47478498 missense variant A/G snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs63750887
rs63750887
1 1.000 0.160 2 47408482 missense variant A/G;T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs63751232
rs63751232
1 1.000 0.160 2 47476372 missense variant A/G;T snv 0.700 0