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: rs121918407
rs121918407
1 1.000 0.080 2 156579109 missense variant T/A;C snv 0.700 0
dbSNP: rs1259467443
rs1259467443
1 1.000 0.080 2 226796570 inframe deletion ACC/- delins 8.0E-06 7.0E-06 0.700 0
dbSNP: rs1339616347
rs1339616347
WRN
6 0.925 0.120 8 31068328 splice donor variant G/T snv 0.700 0
dbSNP: rs1360415315
rs1360415315
4 0.851 0.080 7 44149772 missense variant C/G;T snv 4.0E-06 0.700 0
dbSNP: rs137852673
rs137852673
4 0.851 0.120 11 17395915 missense variant G/A;T snv 5.0E-06; 2.0E-05 0.700 0
dbSNP: rs137852674
rs137852674
2 0.925 0.120 11 17430887 missense variant G/C snv 0.700 0
dbSNP: rs137852784
rs137852784
3 0.925 0.080 13 27920314 missense variant A/T snv 1.5E-05 1.4E-05 0.700 0
dbSNP: rs137853236
rs137853236
6 0.807 0.280 12 120997504 missense variant C/T snv 1.2E-05 0.700 0
dbSNP: rs141804752
rs141804752
1 1.000 0.080 11 92969904 missense variant T/A;G snv 2.0E-05; 3.2E-04 0.700 0
dbSNP: rs148311934
rs148311934
5 0.827 0.080 7 44149763 missense variant C/T snv 8.0E-06 1.4E-05 0.700 0
dbSNP: rs1553638903
rs1553638903
1 1.000 0.080 3 12349804 intron variant A/G snv 0.700 0
dbSNP: rs1553638909
rs1553638909
1 1.000 0.080 3 12349824 intron variant A/T snv 0.700 0
dbSNP: rs1553784995
rs1553784995
1 1.000 0.080 3 170998236 stop gained C/T snv 0.700 0
dbSNP: rs1553876668
rs1553876668
1 1.000 0.080 4 6289001 stop gained C/A snv 0.700 0
dbSNP: rs1553878211
rs1553878211
2 0.925 0.080 4 26406269 missense variant A/G snv 0.700 0
dbSNP: rs1554901596
rs1554901596
2 0.925 0.080 11 17387124 frameshift variant -/C delins 0.700 0
dbSNP: rs1554948310
rs1554948310
5 0.827 0.160 11 17474884 splice donor variant A/G snv 0.700 0
dbSNP: rs1555212014
rs1555212014
6 0.807 0.280 12 120994264 missense variant C/T snv 0.700 0
dbSNP: rs182349376
rs182349376
1 1.000 0.080 11 92981507 missense variant C/A;T snv 3.6E-05 0.700 0
dbSNP: rs182552223
rs182552223
1 1.000 0.080 19 7141787 missense variant T/C snv 1.2E-04 1.4E-05 0.700 0
dbSNP: rs184917682
rs184917682
1 1.000 0.080 11 92982146 missense variant A/C;G snv 8.0E-06 0.700 0
dbSNP: rs193922283
rs193922283
GCK
4 0.851 0.080 7 44145176 missense variant G/A snv 0.700 0
dbSNP: rs193922402
rs193922402
6 0.807 0.160 11 17395611 stop gained G/A snv 1.3E-05 7.0E-06 0.700 0
dbSNP: rs199474657
rs199474657
ND1 ; ND2 ; TRNL1
15 0.752 0.360 MT 3243 non coding transcript exon variant A/G snv 0.700 0
dbSNP: rs267607196
rs267607196
5 0.827 0.160 11 17387248 missense variant C/T snv 2.4E-05 2.8E-05 0.700 0