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: rs121908030
rs121908030
6 0.851 0.080 19 11107484 missense variant G/A;C;T snv 4.0E-06 0.700 0
dbSNP: rs121908040
rs121908040
4 0.851 0.080 19 11106652 missense variant G/A;T snv 1.2E-05 0.700 0
dbSNP: rs137929307
rs137929307
12 0.752 0.240 19 11116928 missense variant G/A snv 4.4E-05 4.9E-05 0.700 0
dbSNP: rs139617694
rs139617694
6 0.851 0.080 19 11113534 splice acceptor variant G/A;C snv 0.700 0
dbSNP: rs144172724
rs144172724
6 0.851 0.080 19 11102774 stop gained G/A;T snv 1.6E-05 0.700 0
dbSNP: rs146200173
rs146200173
3 0.882 0.080 19 11113292 missense variant C/G;T snv 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs368657165
rs368657165
7 0.827 0.080 19 11107436 stop gained G/A;T snv 4.0E-05 0.700 0
dbSNP: rs370777955
rs370777955
3 0.882 0.080 19 11113643 stop gained C/A;G snv 4.0E-06 0.700 0
dbSNP: rs374045590
rs374045590
7 0.827 0.080 19 11129598 missense variant C/A;G snv 4.0E-06; 8.0E-06 0.700 0
dbSNP: rs377271627
rs377271627
2 0.925 0.080 19 11102769 stop gained C/G snv 4.0E-06 0.700 0
dbSNP: rs11542041
rs11542041
23 0.677 0.480 19 44908690 missense variant C/A;T snv 2.1E-05 0.010 < 0.001 1 1993 1993
dbSNP: rs267606661
rs267606661
10 0.763 0.120 19 44909101 missense variant C/G;T snv 3.9E-04; 1.0E-05 0.010 < 0.001 1 1993 1993
dbSNP: rs1279368649
rs1279368649
1 1.000 0.040 19 11120146 missense variant C/T snv 2.1E-05 0.010 1.000 1 1996 1996
dbSNP: rs1308646934
rs1308646934
1 1.000 0.040 19 11129527 missense variant C/T snv 0.010 1.000 1 1996 1996
dbSNP: rs749780672
rs749780672
2 0.925 0.080 19 11113426 missense variant C/A;G snv 1.6E-05 0.010 1.000 1 1997 1997
dbSNP: rs770937716
rs770937716
1 1.000 0.040 19 11107405 missense variant G/C snv 4.0E-06 0.010 1.000 1 1997 1997
dbSNP: rs777249279
rs777249279
2 0.925 0.080 2 21006422 missense variant G/A;T snv 4.0E-06 7.0E-06 0.010 < 0.001 1 1997 1997
dbSNP: rs545532525
rs545532525
5 0.851 0.200 19 11110753 missense variant G/A snv 0.010 1.000 1 1998 1998
dbSNP: rs879254896
rs879254896
2 0.925 0.080 19 11113599 frameshift variant GC/A delins 0.010 1.000 1 1998 1998
dbSNP: rs144467873
rs144467873
9 0.776 0.120 2 21006289 missense variant G/A snv 1.7E-04 6.3E-05 0.020 1.000 2 1997 1999
dbSNP: rs138947766
rs138947766
6 0.851 0.080 19 11116883 stop gained G/A;C snv 8.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs12713559
rs12713559
10 0.776 0.120 2 21006196 missense variant G/A snv 3.4E-04 5.0E-04 0.040 1.000 4 1997 2000
dbSNP: rs28942084
rs28942084
11 0.763 0.200 19 11120436 missense variant C/A;T snv 2.8E-05 4.2E-05 0.010 1.000 1 2000 2000
dbSNP: rs573658040
rs573658040
9 0.790 0.200 19 44908705 missense variant C/G;T snv 6.3E-06 0.010 1.000 1 2000 2000
dbSNP: rs429358
rs429358
66 0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16 0.020 0.500 2 1993 2001