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: rs61750168
rs61750168
4 0.851 0.080 17 8013918 missense variant C/G;T snv 4.0E-06; 1.5E-04 0.800 1.000 15 1996 2018
dbSNP: rs61749755
rs61749755
1 1.000 0.040 17 8009531 missense variant T/C snv 4.0E-06 0.800 1.000 9 1996 2018
dbSNP: rs62645748
rs62645748
7 0.807 0.080 1 197434706 missense variant G/A snv 2.1E-04 2.2E-04 0.710 1.000 1 2008 2008
dbSNP: rs201414567
rs201414567
1 1.000 0.040 17 8003211 missense variant C/T snv 1.0E-03 4.7E-04 0.700 1.000 9 1996 2018
dbSNP: rs375010731
rs375010731
1 1.000 0.040 17 8013967 missense variant T/C;G snv 4.0E-06; 4.0E-06 0.700 1.000 9 1996 2018
dbSNP: rs61749665
rs61749665
1 1.000 0.040 17 8003201 missense variant G/T snv 0.42 0.30 0.700 1.000 9 1996 2018
dbSNP: rs61749669
rs61749669
1 1.000 0.040 17 8003361 missense variant G/A snv 0.700 1.000 9 1996 2018
dbSNP: rs61749673
rs61749673
1 1.000 0.040 17 8004065 missense variant C/G;T snv 2.0E-05 0.700 1.000 9 1996 2018
dbSNP: rs61749675
rs61749675
3 0.882 0.080 17 8004104 missense variant T/C snv 0.700 1.000 9 1996 2018
dbSNP: rs61749677
rs61749677
1 1.000 0.040 17 8006420 missense variant G/A;T snv 1.7E-05 0.700 1.000 9 1996 2018
dbSNP: rs61749756
rs61749756
1 1.000 0.040 17 8009554 missense variant A/C;G snv 4.0E-06; 2.0E-05 0.700 1.000 9 1996 2018
dbSNP: rs61750162
rs61750162
1 1.000 0.040 17 8012472 missense variant G/A snv 3.8E-04 3.2E-04 0.700 1.000 9 1996 2018
dbSNP: rs61750171
rs61750171
1 1.000 0.040 17 8014000 missense variant G/A;T snv 0.700 1.000 9 1996 2018
dbSNP: rs61750176
rs61750176
1 1.000 0.040 17 8014760 missense variant C/A;T snv 0.700 1.000 9 1996 2018
dbSNP: rs61750182
rs61750182
1 1.000 0.040 17 8015419 missense variant T/C snv 8.0E-06 1.4E-05 0.700 1.000 9 1996 2018
dbSNP: rs757823463
rs757823463
2 0.925 0.080 17 8016291 splice donor variant G/C snv 5.8E-06 0.700 1.000 4 2000 2013
dbSNP: rs61749670
rs61749670
3 0.882 0.080 17 8003434 frameshift variant C/- delins 1.7E-05 7.0E-06 0.700 1.000 2 1996 2010
dbSNP: rs1327062642
rs1327062642
11 0.827 0.200 6 35509903 frameshift variant -/G delins 4.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs1555635778
rs1555635778
2 0.925 0.080 17 8014751 stop gained C/T snv 0.700 1.000 1 1999 1999
dbSNP: rs1006935198
rs1006935198
3 0.882 0.080 17 8015048 stop gained C/G snv 0.700 0
dbSNP: rs1300041533
rs1300041533
1 1.000 0.040 4 15992281 frameshift variant AT/- delins 4.0E-06 0.700 0
dbSNP: rs1555635550
rs1555635550
1 1.000 0.040 17 8013073 splice donor variant GCGCCTCAGCCCCTTCCCCATCCCCAGACCAGCTGTGGACAGCCCCGGAGCTGCTTAGGGACCCAGCCCTGGAGCGCCGGGGAACGCTGGCCGGCGACGTCTTTAGCTTGGCCATCATCATGCAAGAAGTAGTGTGCCGCAGTGCCCCTTATGCCATGCTGGAGCTCACTCCCGAGGGTAAGGCTGCCCTGTGCG/- delins 0.700 0
dbSNP: rs1555635668
rs1555635668
1 1.000 0.040 17 8013992 frameshift variant G/- delins 0.700 0
dbSNP: rs1567958644
rs1567958644
1 1.000 0.040 17 8007070 frameshift variant G/- delins 0.700 0
dbSNP: rs398124615
rs398124615
5 0.827 0.080 1 197328844 inframe insertion AATTGATGG/-;AATTGATGGAATTGATGG delins 7.7E-04 0.700 0