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: rs132630278
rs132630278
1 1.000 0.120 X 103788460 missense variant C/T snv 0.800 1.000 20 1989 2000
dbSNP: rs132630279
rs132630279
1 1.000 0.120 X 103787831 missense variant T/C snv 0.800 1.000 20 1989 2000
dbSNP: rs132630280
rs132630280
1 1.000 0.120 X 103787811 missense variant C/G;T snv 0.800 1.000 20 1989 2000
dbSNP: rs132630281
rs132630281
1 1.000 0.120 X 103788469 missense variant G/T snv 0.800 1.000 20 1989 2000
dbSNP: rs132630282
rs132630282
1 1.000 0.120 X 103787888 missense variant A/C snv 0.800 1.000 20 1989 2000
dbSNP: rs132630283
rs132630283
1 1.000 0.120 X 103788485 missense variant T/C snv 0.800 1.000 20 1989 2000
dbSNP: rs132630284
rs132630284
1 1.000 0.120 X 103787951 missense variant G/A;C snv 0.800 1.000 20 1989 2000
dbSNP: rs132630285
rs132630285
1 1.000 0.120 X 103786493 missense variant G/A snv 0.800 1.000 20 1989 2000
dbSNP: rs132630289
rs132630289
1 1.000 0.120 X 103785705 missense variant C/T snv 0.800 1.000 20 1989 2000
dbSNP: rs132630286
rs132630286
2 0.925 0.120 X 103788475 missense variant G/T snv 0.700 1.000 20 1989 2000
dbSNP: rs398123466
rs398123466
1 1.000 0.120 X 103788497 missense variant G/A snv 0.700 1.000 20 1989 2000
dbSNP: rs398123467
rs398123467
2 0.925 0.120 X 103789373 missense variant G/C snv 0.700 1.000 20 1989 2000
dbSNP: rs797045064
rs797045064
1 1.000 0.120 X 103776996 start lost A/G snv 0.700 1.000 2 2003 2016
dbSNP: rs1060499653
rs1060499653
1 1.000 0.120 X 103785752 stop gained G/T snv 0.700 0
dbSNP: rs1060500909
rs1060500909
2 0.925 0.120 X 103785717 missense variant T/C snv 0.700 0
dbSNP: rs1064794255
rs1064794255
1 1.000 0.120 X 103785675 missense variant G/A snv 0.700 0
dbSNP: rs11543022
rs11543022
1 1.000 0.120 X 103785621 missense variant C/T snv 0.700 0
dbSNP: rs132630296
rs132630296
1 1.000 0.120 X 103785746 missense variant G/T snv 0.700 0
dbSNP: rs1556267215
rs1556267215
1 1.000 0.120 X 103786657 frameshift variant CCAACATCAA/- del 0.700 0
dbSNP: rs1556267388
rs1556267388
1 1.000 0.120 X 103786728 splice donor variant T/C snv 0.700 0
dbSNP: rs1556269487
rs1556269487
1 1.000 0.120 X 103787961 missense variant T/G snv 0.700 0
dbSNP: rs1556270312
rs1556270312
1 1.000 0.120 X 103788472 missense variant T/G snv 0.700 0
dbSNP: rs1569427275
rs1569427275
1 1.000 0.120 X 103785681 missense variant G/A snv 0.700 0
dbSNP: rs1569427311
rs1569427311
1 1.000 0.120 X 103785743 stop gained C/T snv 0.700 0
dbSNP: rs1569427707
rs1569427707
1 1.000 0.120 X 103786730 splice region variant A/G snv 0.700 0