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: rs1554333853
rs1554333853
54 0.689 0.320 7 40046006 missense variant A/G snv 0.700 1.000 1 2017 2017
dbSNP: rs748787734
rs748787734
13 0.827 0.240 19 6495437 missense variant G/A;C snv 1.2E-05 0.700 1.000 1 2014 2014
dbSNP: rs752298579
rs752298579
48 0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs867410737
rs867410737
45 0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 0.700 1.000 1 2018 2018
dbSNP: rs113994152
rs113994152
11 0.790 0.160 17 75522000 missense variant G/T snv 9.0E-04 9.0E-04 0.700 0
dbSNP: rs118192212
rs118192212
6 0.925 0.040 20 63439610 inframe deletion AAG/- delins 0.700 0
dbSNP: rs1345176461
rs1345176461
40 0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06 0.700 0
dbSNP: rs145465528
rs145465528
7 0.882 0.240 6 129143976 missense variant C/T snv 6.0E-05 9.1E-05 0.700 0
dbSNP: rs1555350397
rs1555350397
9 0.827 0.200 14 56804268 frameshift variant ACA/CC delins 0.700 0
dbSNP: rs1555731819
rs1555731819
26 0.807 0.200 19 35729980 missense variant G/T snv 0.700 0
dbSNP: rs1555975523
rs1555975523
5 0.851 0.200 X 41534892 splice donor variant C/AT delins 0.700 0
dbSNP: rs1562150844
rs1562150844
14 0.790 0.280 6 78982908 frameshift variant CTTT/- delins 0.700 0
dbSNP: rs1562927768
rs1562927768
15 0.790 0.080 7 105101476 frameshift variant AAAGA/- delins 0.700 0
dbSNP: rs1562931936
rs1562931936
5 1.000 7 105107527 stop gained C/T snv 0.700 0
dbSNP: rs1565706229
rs1565706229
18 0.851 0.120 11 86277110 missense variant T/C snv 0.700 0
dbSNP: rs201278558
rs201278558
3 0.925 0.080 2 65010729 missense variant G/A snv 2.3E-04 1.2E-04 0.700 0
dbSNP: rs387906702
rs387906702
16 0.807 0.200 X 53403635 missense variant A/G snv 0.700 0
dbSNP: rs587777449
rs587777449
6 0.851 0.320 2 162282494 missense variant T/A;C snv 8.0E-06 0.700 0
dbSNP: rs727503773
rs727503773
7 0.882 0.160 X 53412950 inframe deletion TCT/- delins 0.700 0
dbSNP: rs770374710
rs770374710
87 0.611 0.560 15 23645747 frameshift variant G/-;GG delins 0.700 0
dbSNP: rs869312708
rs869312708
4 1.000 21 37506191 stop gained C/T snv 0.700 0