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: rs142569954
rs142569954
3 0.882 0.160 13 77918396 missense variant C/G;T snv 4.1E-06; 2.1E-05 0.020 1.000 2 2003 2007
dbSNP: rs5349
rs5349
3 0.882 0.160 13 77903530 synonymous variant G/A snv 5.5E-03 1.1E-02 0.020 1.000 2 2003 2007
dbSNP: rs104894387
rs104894387
3 0.882 0.080 13 77901181 missense variant C/A snv 2.8E-05 0.010 1.000 1 1994 1994
dbSNP: rs104894389
rs104894389
2 0.925 0.080 13 77901185 stop gained C/G;T snv 4.0E-06 0.010 1.000 1 1997 1997
dbSNP: rs112618428
rs112618428
1 1.000 0.080 13 77903255 synonymous variant G/A snv 8.0E-06 5.6E-05 0.010 1.000 1 2007 2007
dbSNP: rs5348
rs5348
1 1.000 0.080 13 77903539 synonymous variant A/G;T snv 1.00 0.010 1.000 1 2007 2007
dbSNP: rs5351
rs5351
7 0.807 0.240 13 77901178 synonymous variant T/C;G snv 0.57 0.010 1.000 1 2007 2007
dbSNP: rs5352
rs5352
5 0.827 0.200 13 77901095 missense variant C/T snv 1.0E-02 1.1E-02 0.010 1.000 1 1999 1999
dbSNP: rs780355308
rs780355308
1 1.000 0.080 13 77918263 missense variant T/A;C snv 2.4E-05 0.010 1.000 1 1998 1998