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: rs1085307993
rs1085307993
53 0.716 0.440 5 161331056 missense variant C/T snv 0.700 0
dbSNP: rs1085308004
rs1085308004
9 0.807 0.240 15 48425420 missense variant A/G snv 0.700 0
dbSNP: rs112550005
rs112550005
18 0.742 0.240 15 48425829 stop gained G/A snv 0.700 0
dbSNP: rs113422242
rs113422242
14 0.763 0.240 15 48510065 stop gained G/A snv 7.0E-06 0.700 0
dbSNP: rs113812345
rs113812345
10 0.790 0.160 15 48513591 stop gained G/A snv 0.700 0
dbSNP: rs1232880706
rs1232880706
36 0.689 0.440 15 48526247 stop gained C/A;T snv 0.700 0
dbSNP: rs1352010373
rs1352010373
73 0.641 0.560 17 75489265 splice acceptor variant G/C snv 0.700 0
dbSNP: rs137854461
rs137854461
12 0.790 0.280 15 48437026 missense variant T/C snv 0.700 0
dbSNP: rs137854467
rs137854467
7 0.790 0.280 15 48600217 missense variant G/A snv 0.700 0
dbSNP: rs1554122802
rs1554122802
22 0.742 0.160 5 128335170 missense variant C/T snv 0.700 0
dbSNP: rs1555398673
rs1555398673
7 0.807 0.200 15 48488433 missense variant A/G snv 0.700 0
dbSNP: rs1555735545
rs1555735545
22 0.851 0.160 19 46746071 5 prime UTR variant G/A snv 0.700 0
dbSNP: rs1558939623
rs1558939623
19 0.732 0.480 2 174824479 missense variant C/T snv 0.700 0
dbSNP: rs1566911709
rs1566911709
15 0.742 0.240 15 48495502 frameshift variant T/- delins 0.700 0
dbSNP: rs1566913974
rs1566913974
8 0.807 0.200 15 48505029 missense variant A/C snv 0.700 0
dbSNP: rs193922219
rs193922219
9 0.763 0.280 15 48446701 splice region variant C/A;T snv 0.700 0
dbSNP: rs397515789
rs397515789
10 0.776 0.240 15 48488112 splice donor variant C/A;T snv 0.700 0
dbSNP: rs397515804
rs397515804
11 0.776 0.200 15 48472628 missense variant C/A;T snv 0.700 0
dbSNP: rs866294686
rs866294686
43 0.683 0.480 10 102657073 stop gained C/A;T snv 0.700 0
dbSNP: rs111854391
rs111854391
18 0.716 0.280 9 99138006 stop gained C/A;T snv 4.0E-06 0.700 0
dbSNP: rs1163944538
rs1163944538
73 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 0.700 0
dbSNP: rs137854466
rs137854466
23 0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06 0.700 0
dbSNP: rs771409809
rs771409809
19 0.732 0.480 4 6301794 stop gained C/T snv 6.0E-05 7.0E-06 0.700 0
dbSNP: rs28937900
rs28937900
37 0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03 0.700 0
dbSNP: rs137854475
rs137854475
3 0.882 0.200 15 48487155 missense variant C/T snv 1.3E-03 1.6E-03 0.010 1.000 1 1994 1994