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: rs756312947
rs756312947
2 1.000 0.080 19 12940307 missense variant T/C snv 8.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1057518827
rs1057518827
3 1.000 0.040 1 247425248 missense variant A/G snv 0.700 0
dbSNP: rs730882245
rs730882245
6 0.827 0.160 4 122207168 stop gained T/A snv 0.700 0
dbSNP: rs587777589
rs587777589
7 0.851 0.280 6 44311095 frameshift variant -/C delins 0.700 0
dbSNP: rs138119149
rs138119149
11 0.807 0.280 6 44304512 missense variant G/A snv 2.1E-04 2.4E-04 0.700 0
dbSNP: rs190521996
rs190521996
12 0.790 0.320 16 8811660 missense variant T/C snv 2.9E-04 4.1E-04 0.700 0
dbSNP: rs80338701
rs80338701
14 0.776 0.360 16 8811088 stop gained C/A;T snv 4.4E-05; 5.4E-06 0.700 0
dbSNP: rs483352822
rs483352822
16 0.776 0.360 1 155904470 stop lost C/A;G;T snv 0.700 0
dbSNP: rs672601334
rs672601334
18 0.752 0.400 1 155904798 missense variant G/C snv 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: rs1178187217
rs1178187217
38 0.683 0.480 7 21600085 missense variant G/A;T snv 4.3E-06 0.700 0
dbSNP: rs201943194
rs201943194
38 0.683 0.480 7 21710596 stop gained C/T snv 8.5E-05 8.4E-05 0.700 0
dbSNP: rs121434569
rs121434569
70 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.010 1.000 1 2018 2018
dbSNP: rs387907272
rs387907272
73 0.572 0.520 3 38141150 stop lost T/C snv 5.2E-05 7.0E-06 0.010 1.000 1 2019 2019