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: rs1176037831
rs1176037831
1 1.000 0.080 12 132869741 missense variant G/A snv 7.0E-06 0.700 0
dbSNP: rs121912470
rs121912470
2 0.925 0.120 5 132489448 missense variant A/G snv 0.700 0
dbSNP: rs121913281
rs121913281
37 0.623 0.520 3 179234296 missense variant C/T snv 0.700 0
dbSNP: rs121913283
rs121913283
16 0.724 0.440 3 179234286 missense variant G/A;T snv 4.0E-06 0.700 0
dbSNP: rs121913370
rs121913370
10 0.763 0.360 7 140753393 missense variant T/C;G snv 0.700 0
dbSNP: rs121913386
rs121913386
7 0.807 0.120 9 21971018 missense variant G/A;T snv 0.700 0
dbSNP: rs1555618025
rs1555618025
1 1.000 0.080 17 39724733 inframe insertion -/TCCGTGATGGCT delins 0.700 0
dbSNP: rs397516890
rs397516890
1 1.000 0.080 7 140781601 inframe deletion TCC/- del 0.700 0
dbSNP: rs397516975
rs397516975
2 0.925 0.080 17 39724728 inframe insertion -/ATACGTGATGGC delins 0.700 0
dbSNP: rs397516977
rs397516977
1 1.000 0.080 17 39724731 inframe insertion -/TACGTGATGGCT delins 0.700 0
dbSNP: rs397516978
rs397516978
1 1.000 0.080 17 39724738 frameshift variant A/- del 0.700 0
dbSNP: rs397517040
rs397517040
2 0.925 0.120 12 25245346 synonymous variant G/A;T snv 4.0E-06 0.700 0
dbSNP: rs397517094
rs397517094
1 1.000 0.080 7 55174769 protein altering variant CAAGGAATTAAGAGAAGC/AAA delins 0.700 0
dbSNP: rs397517098
rs397517098
1 1.000 0.080 7 55174777 inframe deletion TAAGAGAAG/- del 0.700 0
dbSNP: rs397517111
rs397517111
1 1.000 0.080 7 55181319 inframe insertion -/GGGTTG ins 0.700 0
dbSNP: rs397517200
rs397517200
1 1.000 0.080 3 179210293 inframe deletion AGATTTGCTGAACCC/- del 0.700 0
dbSNP: rs397517202
rs397517202
4 0.851 0.320 3 179234230 missense variant A/G snv 0.700 0
dbSNP: rs727503106
rs727503106
1 1.000 0.080 12 25227234 missense variant C/T snv 0.700 0
dbSNP: rs754806883
rs754806883
3 0.925 0.160 9 21971063 missense variant C/A;G;T snv 4.3E-06; 8.5E-06 0.700 0
dbSNP: rs757497674
rs757497674
1 1.000 0.080 9 21970958 missense variant G/A snv 4.1E-06 0.700 0
dbSNP: rs779179533
rs779179533
2 1.000 0.080 3 189808322 missense variant G/C snv 4.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs121913409
rs121913409
21 0.708 0.400 3 41224646 missense variant C/A;G;T snv 0.010 1.000 1 2001 2001
dbSNP: rs1799802
rs1799802
2 0.925 0.200 16 13934224 missense variant C/T snv 4.0E-03 4.6E-03 0.010 1.000 1 2001 2001
dbSNP: rs121913364
rs121913364
34 0.641 0.520 7 140753334 missense variant T/C;G snv 4.0E-06 0.700 1.000 1 2002 2002
dbSNP: rs397516897
rs397516897
1 1.000 0.080 7 140753334 inframe deletion TCA/- del 0.700 1.000 1 2002 2002