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: rs1057518913
rs1057518913
7 0.851 0.320 9 137762822 splice donor variant T/C snv 0.700 0
dbSNP: rs1555454508
rs1555454508
18 0.790 0.240 15 44615487 stop gained GTA/ATC mnv 0.700 0
dbSNP: rs1557136818
rs1557136818
4 0.925 0.120 X 154031259 missense variant C/T snv 0.700 0
dbSNP: rs200119628
rs200119628
1 1.000 0.040 22 20241938 missense variant G/A snv 3.0E-04 2.4E-04 0.700 0
dbSNP: rs748655075
rs748655075
1 1.000 0.040 22 20242004 missense variant G/A snv 4.5E-05 2.8E-05 0.700 0
dbSNP: rs779384862
rs779384862
1 1.000 0.040 22 20242003 missense variant C/G;T snv 7.8E-05 0.700 0
dbSNP: rs797045205
rs797045205
1 1.000 0.040 7 48387961 splice donor variant T/C snv 4.3E-06 1.4E-05 0.700 0
dbSNP: rs875989808
rs875989808
3 0.925 0.160 6 33444529 missense variant C/T snv 0.700 0
dbSNP: rs1800557
rs1800557
APP
3 0.925 0.040 21 25891795 missense variant G/A snv 4.0E-05 4.2E-05 0.020 1.000 2 1994 1995
dbSNP: rs145497708
rs145497708
1 1.000 0.040 4 9783034 stop gained C/A;T snv 1.9E-03; 4.0E-06 0.010 1.000 1 1995 1995
dbSNP: rs112175378
rs112175378
1 1.000 0.040 6 16327755 missense variant T/A;G snv 3.2E-03; 4.1E-06 0.010 1.000 1 1997 1997
dbSNP: rs1800567
rs1800567
1 1.000 0.040 8 56441336 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 1997 1997
dbSNP: rs1805055
rs1805055
3 0.882 0.120 13 46895833 missense variant G/C;T snv 2.0E-05; 1.8E-02 0.010 1.000 1 1997 1997
dbSNP: rs1800044
rs1800044
8 0.827 0.200 5 63961061 missense variant C/A snv 3.7E-03 3.8E-03 0.010 1.000 1 1998 1998
dbSNP: rs6356
rs6356
TH
5 0.827 0.240 11 2169721 missense variant C/T snv 0.43 0.32 0.010 < 0.001 1 1998 1998
dbSNP: rs138354054
rs138354054
1 1.000 0.040 3 114171881 missense variant C/A;T snv 8.7E-04 0.010 < 0.001 1 2000 2000
dbSNP: rs1806201
rs1806201
8 0.776 0.200 12 13564574 synonymous variant G/A snv 0.32 0.24 0.010 < 0.001 1 2000 2000
dbSNP: rs6971
rs6971
11 0.742 0.200 22 43162920 missense variant A/G snv 0.76 0.75 0.010 < 0.001 1 2000 2000
dbSNP: rs11575874
rs11575874
1 1.000 0.040 7 155070942 missense variant C/A;T snv 4.3E-02 0.010 1.000 1 2001 2001
dbSNP: rs363430
rs363430
3 0.882 0.160 21 29598863 synonymous variant G/A snv 0.18 0.17 0.010 1.000 1 2001 2001
dbSNP: rs363504
rs363504
3 0.882 0.160 21 29553607 stop gained A/G;T snv 6.7E-02 0.010 1.000 1 2001 2001
dbSNP: rs363538
rs363538
3 0.882 0.160 21 29689750 synonymous variant T/A;G snv 0.20 0.010 1.000 1 2001 2001
dbSNP: rs7301328
rs7301328
3 0.882 0.120 12 13865843 synonymous variant G/C;T snv 0.41; 4.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs1051931
rs1051931
19 0.708 0.400 6 46705206 missense variant A/G snv 0.81 0.79 0.020 1.000 2 1997 2002
dbSNP: rs80358240
rs80358240
4 0.851 0.160 22 50064168 missense variant G/T snv 7.0E-06 0.020 0.500 2 2002 2002