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: rs28933386
rs28933386
15 0.752 0.400 12 112477719 missense variant A/G snv 1.2E-05 7.0E-06 0.700 1.000 19 2001 2018
dbSNP: rs397516807
rs397516807
1 1.000 0.120 12 112455968 frameshift variant A/- del 0.700 1.000 2 2010 2011
dbSNP: rs121918453
rs121918453
19 0.732 0.280 12 112450394 missense variant G/A;C;T snv 0.700 0
dbSNP: rs121918454
rs121918454
17 0.742 0.280 12 112450395 missense variant C/A;G;T snv 0.700 0
dbSNP: rs121918455
rs121918455
31 0.695 0.440 12 112477720 missense variant A/C;G snv 0.700 0
dbSNP: rs121918456
rs121918456
13 0.752 0.280 12 112473023 missense variant A/C;G snv 0.700 0
dbSNP: rs121918457
rs121918457
24 0.701 0.280 12 112488466 missense variant C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs121918459
rs121918459
47 0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs121918460
rs121918460
27 0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06 0.700 0
dbSNP: rs121918462
rs121918462
13 0.742 0.320 12 112450398 missense variant C/T snv 0.700 0
dbSNP: rs121918466
rs121918466
14 0.752 0.280 12 112450416 missense variant A/G snv 0.700 0
dbSNP: rs267606989
rs267606989
1 1.000 0.120 12 112453274 stop gained C/T snv 0.700 0
dbSNP: rs267606990
rs267606990
4 0.851 0.240 12 112419116 missense variant C/T snv 0.700 0
dbSNP: rs376607329
rs376607329
4 0.851 0.200 12 112472981 missense variant G/A;T snv 3.2E-05 3.5E-05 0.700 0
dbSNP: rs387907157
rs387907157
1 1.000 0.120 12 112489092 stop gained C/T snv 0.700 0
dbSNP: rs387907158
rs387907158
3 0.882 0.160 12 112450475 stop gained A/T snv 0.700 0
dbSNP: rs397507505
rs397507505
5 0.827 0.240 12 112450352 missense variant A/C;G;T snv 0.700 0
dbSNP: rs397507506
rs397507506
6 0.807 0.240 12 112450354 missense variant C/A;G snv 0.700 0
dbSNP: rs397507514
rs397507514
10 0.790 0.240 12 112450408 missense variant G/C;T snv 0.700 0
dbSNP: rs397507520
rs397507520
39 0.658 0.520 12 112453279 missense variant G/C;T snv 0.700 0
dbSNP: rs397507531
rs397507531
18 0.752 0.320 12 112473040 missense variant T/C;G snv 0.700 0
dbSNP: rs397507545
rs397507545
20 0.708 0.560 12 112489083 missense variant G/A;C snv 4.0E-06 0.700 0
dbSNP: rs397507547
rs397507547
14 0.752 0.280 12 112489086 missense variant A/G snv 4.0E-06 0.700 0
dbSNP: rs398122857
rs398122857
1 1.000 0.120 12 112453271 frameshift variant GTACG/- del 0.700 0
dbSNP: rs398122858
rs398122858
1 1.000 0.120 12 112453320 frameshift variant CTGGTG/AAGAACACAGGGGAGAGCA delins 0.700 0