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: rs1057520063
rs1057520063
13 0.763 0.200 7 41964641 frameshift variant -/A delins 0.700 0
dbSNP: rs1567721991
rs1567721991
9 0.882 0.080 16 68347257 frameshift variant -/GCTCTCCG delins 0.700 0
dbSNP: rs587776917
rs587776917
13 0.776 0.200 2 232485937 stop gained -/T delins 0.700 0
dbSNP: rs137853027
rs137853027
15 0.827 0.120 11 103220720 missense variant A/G snv 2.4E-04 2.6E-04 0.700 0
dbSNP: rs767846762
rs767846762
7 0.882 0.120 11 103176241 frameshift variant AA/- delins 1.0E-05 0.700 0
dbSNP: rs1567690011
rs1567690011
9 0.882 0.080 16 68337496 frameshift variant AG/- delins 0.700 0
dbSNP: rs886039813
rs886039813
8 0.827 0.160 X 13756600 frameshift variant C/- delins 0.700 0
dbSNP: rs1251713297
rs1251713297
15 0.776 0.360 16 68355785 stop gained C/A snv 8.1E-06 0.700 0
dbSNP: rs1555386022
rs1555386022
38 0.708 0.320 14 92003418 splice donor variant C/A snv 0.700 0
dbSNP: rs4647924
rs4647924
49 0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06 0.710 1.000 1 1998 1998
dbSNP: rs1400419650
rs1400419650
38 0.708 0.320 14 92005938 stop gained C/A;T snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs776587763
rs776587763
7 0.790 0.120 10 121520085 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs771148519
rs771148519
9 0.807 0.200 4 39225027 stop gained C/G snv 1.7E-05 1.4E-05 0.700 0
dbSNP: rs1057518907
rs1057518907
16 0.732 0.320 20 58891811 stop gained C/G;T snv 0.700 0
dbSNP: rs77096466
rs77096466
1 1.000 0.080 20 58905474 missense variant C/T snv 0.010 1.000 1 2011 2011
dbSNP: rs104894396
rs104894396
28 0.672 0.400 13 20189511 stop gained C/T snv 5.8E-04 1.1E-04 0.700 0
dbSNP: rs1057518972
rs1057518972
7 0.827 0.200 8 115418359 missense variant C/T snv 0.700 0
dbSNP: rs1057519324
rs1057519324
4 0.925 0.080 9 35801153 stop gained C/T snv 7.0E-06 0.700 0
dbSNP: rs137854539
rs137854539
28 0.716 0.520 20 58903703 missense variant C/T snv 0.700 0
dbSNP: rs1555154946
rs1555154946
16 0.827 0.120 12 45850644 stop gained C/T snv 0.700 0
dbSNP: rs1565317399
rs1565317399
6 0.882 0.120 11 103122879 stop gained C/T snv 0.700 0
dbSNP: rs368869806
rs368869806
97 0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs886039795
rs886039795
10 0.851 0.160 17 7403143 frameshift variant CACTCAGAGCCTGGTAGTAAAA/- del 0.700 0
dbSNP: rs1567499068
rs1567499068
6 0.882 0.160 15 76574190 frameshift variant G/- delins 0.700 1.000 1 2019 2019
dbSNP: rs199566527
rs199566527
NOG
3 0.882 0.080 17 56594498 missense variant G/A snv 1.7E-03 1.7E-03 0.010 1.000 1 2012 2012