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: rs28933087
rs28933087
1 1.000 12 52492669 missense variant A/C;G snv 4.0E-06 0.800 1.000 12 1995 2013
dbSNP: rs57052654
rs57052654
1 1.000 12 52488346 missense variant A/C;G snv 0.800 1.000 12 1995 2013
dbSNP: rs61145796
rs61145796
1 1.000 12 52492668 missense variant A/C;G snv 4.0E-06 0.800 1.000 12 1995 2013
dbSNP: rs62635294
rs62635294
1 1.000 12 52492678 missense variant T/A;C;G snv 0.800 1.000 12 1995 2013
dbSNP: rs267607460
rs267607460
1 1.000 12 52492692 missense variant T/C;G snv 4.0E-06 0.700 1.000 12 1995 2013
dbSNP: rs267607461
rs267607461
1 1.000 12 52492656 missense variant A/T snv 0.700 1.000 12 1995 2013
dbSNP: rs267607462
rs267607462
1 1.000 12 52488365 missense variant C/G;T snv 0.700 1.000 12 1995 2013
dbSNP: rs267607463
rs267607463
1 1.000 12 52488359 missense variant A/G snv 0.700 1.000 12 1995 2013
dbSNP: rs57126929
rs57126929
1 1.000 12 52492689 missense variant A/C;T snv 0.700 1.000 12 1995 2013
dbSNP: rs57448541
rs57448541
1 1.000 12 52492681 missense variant G/A snv 0.700 1.000 12 1995 2013
dbSNP: rs57629991
rs57629991
1 1.000 12 52488367 missense variant A/C;T snv 0.700 1.000 12 1995 2013
dbSNP: rs59018888
rs59018888
2 0.925 0.080 12 52488349 missense variant A/G;T snv 0.700 1.000 12 1995 2013
dbSNP: rs62635293
rs62635293
1 1.000 12 52492698 missense variant C/G;T snv 1.2E-05 0.700 1.000 12 1995 2013
dbSNP: rs113369052
rs113369052
1 1.000 12 52487957 splice acceptor variant T/A;G snv 0.700 0
dbSNP: rs58556099
rs58556099
1 1.000 12 52492677 missense variant T/C;G snv 0.700 0
dbSNP: rs59642296
rs59642296
1 1.000 12 52492663 missense variant A/G snv 0.700 0
dbSNP: rs59685571
rs59685571
3 0.925 0.080 12 52492676 missense variant G/T snv 0.700 0
dbSNP: rs60554162
rs60554162
1 1.000 12 52488338 missense variant C/T snv 0.700 0
dbSNP: rs606231214
rs606231214
1 1.000 12 52492671 inframe deletion TTG/- delins 0.700 0
dbSNP: rs61293647
rs61293647
1 1.000 12 52488362 missense variant T/G snv 0.700 0