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: rs13347
rs13347
12 0.763 0.320 11 35231725 3 prime UTR variant C/A;T snv 0.010 < 0.001 1 2015 2015
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.010 < 0.001 1 2011 2011
dbSNP: rs2835267
rs2835267
6 0.827 0.080 21 36074727 intron variant T/C snv 0.63 0.010 < 0.001 1 2017 2017
dbSNP: rs2839698
rs2839698
25 0.662 0.520 11 1997623 non coding transcript exon variant G/A snv 0.41 0.010 < 0.001 1 2020 2020
dbSNP: rs3756712
rs3756712
10 0.790 0.160 5 308981 non coding transcript exon variant A/C;T snv 0.010 < 0.001 1 2012 2012