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: rs1555284612
rs1555284612
1 1.000 0.080 13 32340610 frameshift variant ATCA/- delins 0.700 1.000 1 2004 2004
dbSNP: rs397507894
rs397507894
2 0.925 0.080 13 32354919 frameshift variant TT/-;TTT delins 0.700 1.000 1 2004 2004
dbSNP: rs80357522
rs80357522
10 0.776 0.280 17 43093570 frameshift variant TTTT/-;TT;TTT;TTTTT delins 7.0E-06 0.700 1.000 1 2004 2004
dbSNP: rs397509072
rs397509072
3 0.925 0.080 17 43092059 stop gained C/A snv 0.700 0
dbSNP: rs1043994
rs1043994
7 0.827 0.120 19 15192033 synonymous variant T/A;C snv 4.0E-06; 0.85 0.010 1.000 1 2014 2014
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 < 0.001 1 2014 2014
dbSNP: rs1047972
rs1047972
19 0.716 0.240 20 56386407 missense variant T/C snv 0.85 0.84 0.010 1.000 1 2017 2017
dbSNP: rs11249433
rs11249433
9 0.827 0.160 1 121538815 intron variant A/C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs121913227
rs121913227
31 0.653 0.320 7 140753336 missense variant AC/CT;TT mnv 0.010 1.000 1 2019 2019
dbSNP: rs145459032
rs145459032
1 1.000 0.080 7 106867607 missense variant A/C;G snv 2.0E-05 2.1E-05 0.010 1.000 1 1996 1996
dbSNP: rs2273535
rs2273535
38 0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 0.010 1.000 1 2017 2017
dbSNP: rs3124591
rs3124591
6 0.827 0.120 9 136495945 3 prime UTR variant C/T snv 0.62 0.010 1.000 1 2014 2014
dbSNP: rs367398
rs367398
5 0.827 0.160 6 32223953 5 prime UTR variant G/A snv 0.34 0.40 0.010 1.000 1 2014 2014
dbSNP: rs3815188
rs3815188
6 0.827 0.120 19 15192414 synonymous variant G/A;T snv 0.17 0.010 1.000 1 2014 2014
dbSNP: rs520692
rs520692
3 0.882 0.120 6 32220863 missense variant T/C snv 0.31 0.29 0.010 1.000 1 2014 2014
dbSNP: rs780881510
rs780881510
2 0.925 0.080 17 39715299 missense variant A/C snv 1.2E-05 0.010 1.000 1 1996 1996