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: rs1060501105
rs1060501105
2 0.925 0.160 10 102615266 splice acceptor variant A/T snv 0.700 0
dbSNP: rs1060501108
rs1060501108
2 0.925 0.160 10 102549993 frameshift variant G/- del 0.700 0
dbSNP: rs1060501109
rs1060501109
2 0.925 0.160 10 102550088 stop gained C/T snv 1.4E-05 0.700 0
dbSNP: rs1477199832
rs1477199832
2 0.925 0.160 10 102597223 frameshift variant -/C delins 0.700 0
dbSNP: rs1554840869
rs1554840869
2 0.925 0.160 10 102504322 frameshift variant -/C delins 0.700 0
dbSNP: rs1564032829
rs1564032829
2 0.925 0.160 9 95468757 frameshift variant T/- delins 0.700 0
dbSNP: rs1564654588
rs1564654588
2 0.925 0.160 10 102504327 stop gained A/T snv 0.700 0
dbSNP: rs1564698683
rs1564698683
2 0.925 0.160 10 102597207 stop gained G/A snv 0.700 0
dbSNP: rs1564698850
rs1564698850
2 0.925 0.160 10 102597278 frameshift variant -/TGTGT ins 0.700 0
dbSNP: rs17847577
rs17847577
WRN
2 0.925 0.120 8 31081132 stop gained C/T snv 1.7E-04 3.2E-04 0.700 0
dbSNP: rs28897756
rs28897756
11 0.752 0.440 13 32379913 splice region variant G/A;C;T snv 4.0E-06 0.700 0
dbSNP: rs28942088
rs28942088
1 1.000 0.040 10 102504196 missense variant C/T snv 0.700 0
dbSNP: rs397507327
rs397507327
9 0.776 0.280 13 32338598 stop gained G/A;T snv 4.1E-06 0.700 0
dbSNP: rs397507404
rs397507404
10 0.763 0.320 13 32370955 splice acceptor variant G/A;T snv 0.700 0
dbSNP: rs397508045
rs397508045
9 0.763 0.320 13 32319101 stop gained G/A;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs41293497
rs41293497
14 0.724 0.440 13 32340037 stop gained C/A;G;T snv 4.0E-06; 2.0E-05 0.700 0
dbSNP: rs41293511
rs41293511
10 0.763 0.320 13 32363369 missense variant G/A;C snv 7.0E-06 0.700 0
dbSNP: rs56126236
rs56126236
2 0.925 0.160 1 44829444 frameshift variant GA/- delins 6.3E-05 0.700 0
dbSNP: rs775104326
rs775104326
10 0.776 0.160 3 41224995 stop gained C/A;T snv 4.0E-06 0.700 0
dbSNP: rs80358391
rs80358391
10 0.763 0.320 13 32319109 stop gained G/A;T snv 4.0E-06 0.700 0
dbSNP: rs80358427
rs80358427
10 0.776 0.280 13 32332877 stop gained A/T snv 4.0E-06 0.700 0
dbSNP: rs80358435
rs80358435
11 0.752 0.440 13 32319154 stop gained G/C;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs80358557
rs80358557
10 0.763 0.320 13 32337464 stop gained C/A;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs80358721
rs80358721
14 0.724 0.320 13 32339320 stop gained C/A;G;R snv 4.2E-06 0.700 0
dbSNP: rs80358785
rs80358785
9 0.790 0.240 13 32340000 stop gained C/A;G snv 1.6E-05 0.700 0