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: rs1057518966
rs1057518966
4 1.000 0.040 9 110800743 missense variant G/A snv 0.700 0
dbSNP: rs1276519904
rs1276519904
63 0.645 0.520 1 226071445 missense variant A/G snv 0.700 0
dbSNP: rs201439531
rs201439531
11 0.827 0.200 10 49664880 missense variant C/G snv 7.0E-06 0.700 0
dbSNP: rs80338937
rs80338937
4 0.925 0.080 5 149006955 stop gained G/A snv 0.700 0
dbSNP: rs866294686
rs866294686
43 0.683 0.480 10 102657073 stop gained C/A;T snv 0.700 0
dbSNP: rs886039795
rs886039795
10 0.851 0.160 17 7403143 frameshift variant CACTCAGAGCCTGGTAGTAAAA/- del 0.700 0
dbSNP: rs80338933
rs80338933
9 0.807 0.080 5 149026872 stop gained G/A snv 7.5E-04; 4.0E-06 6.6E-04 0.700 0
dbSNP: rs63751422
rs63751422
7 0.882 0.280 7 5986838 stop gained G/A snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs751889864
rs751889864
5 0.925 0.120 9 110785664 missense variant T/A;C snv 4.0E-06; 1.6E-05 0.700 0
dbSNP: rs774919231
rs774919231
3 1.000 0.120 19 38451827 stop gained G/A;T snv 8.0E-06 0.700 0
dbSNP: rs1057518970
rs1057518970
3 1.000 0.120 19 38448398 missense variant C/T snv 8.0E-06 2.1E-05 0.700 0
dbSNP: rs769234940
rs769234940
11 0.827 0.200 10 49627735 missense variant C/T snv 1.6E-05 2.8E-05 0.700 0
dbSNP: rs762425351
rs762425351
8 0.925 0.200 9 129095573 missense variant C/T snv 1.2E-04 7.7E-05 0.700 1.000 1 2020 2020
dbSNP: rs141970897
rs141970897
8 0.925 0.200 9 129104269 missense variant T/C snv 1.1E-03 7.8E-04 0.700 1.000 1 2020 2020
dbSNP: rs149989682
rs149989682
10 0.790 0.240 16 2317763 missense variant T/A;C snv 2.3E-03 0.700 0