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: rs112550005
rs112550005
18 0.742 0.240 15 48425829 stop gained G/A snv 0.700 0
dbSNP: rs1163944538
rs1163944538
73 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 0.700 0
dbSNP: rs121918327
rs121918327
12 0.776 0.240 4 122742955 stop gained C/T snv 2.8E-05 1.4E-05 0.700 0
dbSNP: rs121918461
rs121918461
12 0.827 0.240 12 112450362 missense variant A/C;G;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: rs397515789
rs397515789
10 0.776 0.240 15 48488112 splice donor variant C/A;T snv 0.700 0
dbSNP: rs587783446
rs587783446
19 0.763 0.280 8 60850546 stop gained C/T snv 0.700 0
dbSNP: rs727503057
rs727503057
16 0.708 0.280 15 48505106 missense variant G/A snv 7.0E-06 0.700 0
dbSNP: rs775394591
rs775394591
5 0.851 0.120 13 38784727 inframe deletion TCT/- delins 2.8E-05 0.700 0
dbSNP: rs869312685
rs869312685
11 0.807 0.240 3 4815135 missense variant G/A;C snv 0.700 0
dbSNP: rs886039902
rs886039902
6 0.851 0.360 16 89284130 frameshift variant TTTTT/-;T;TTTT delins 0.700 0
dbSNP: rs869312741
rs869312741
5 0.882 0.080 19 43747509 frameshift variant GG/- delins 0.700 1.000 1 2016 2016
dbSNP: rs869312742
rs869312742
5 0.882 0.080 19 43744768 splice region variant T/C snv 0.700 1.000 1 2016 2016