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: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2018 2018
dbSNP: rs1048103951
rs1048103951
2 0.925 0.040 12 104321282 missense variant G/A snv 0.010 1.000 1 2004 2004
dbSNP: rs104893875
rs104893875
13 0.742 0.120 4 89828170 missense variant C/T snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs104893877
rs104893877
59 0.614 0.360 4 89828149 missense variant C/T snv 0.100 1.000 13 2000 2018
dbSNP: rs104893878
rs104893878
21 0.732 0.160 4 89835580 missense variant C/G snv 0.080 1.000 8 2000 2019
dbSNP: rs104894021
rs104894021
5 0.851 0.120 7 150951629 missense variant G/C;T snv 0.010 1.000 1 2005 2005
dbSNP: rs104894073
rs104894073
8 0.827 0.080 8 11750213 missense variant G/A;C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs104894613
rs104894613
NOG
3 0.882 0.040 17 56594609 stop gained T/A snv 0.010 1.000 1 2001 2001
dbSNP: rs1050152
rs1050152
10 0.776 0.480 5 132340627 missense variant C/T snv 0.29 0.28 0.010 1.000 1 2010 2010
dbSNP: rs1056663
rs1056663
3 1.000 7 47965365 synonymous variant C/T snv 0.49 0.46 0.010 1.000 1 2012 2012
dbSNP: rs1057519980
rs1057519980
1 1.000 17 7675084 missense variant G/C snv 0.010 1.000 1 2013 2013
dbSNP: rs1060499619
rs1060499619
4 0.851 0.040 21 32681590 missense variant C/G snv 0.010 1.000 1 2016 2016
dbSNP: rs1061170
rs1061170
CFH
72 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.010 1.000 1 2007 2007
dbSNP: rs1061302
rs1061302
NBN
5 0.827 0.160 8 89946194 synonymous variant T/C snv 0.35 0.30 0.010 1.000 1 2018 2018
dbSNP: rs1064797245
rs1064797245
12 0.776 0.280 19 41970540 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs10993994
rs10993994
15 0.763 0.280 10 46046326 5 prime UTR variant A/G snv 0.54 0.010 1.000 1 2009 2009
dbSNP: rs112176450
rs112176450
7 0.807 0.080 3 184327401 missense variant G/A;T snv 2.1E-04 2.8E-04 0.040 1.000 4 2011 2015
dbSNP: rs1126809
rs1126809
29 0.683 0.320 11 89284793 missense variant G/A snv 0.18 0.18 0.010 1.000 1 2011 2011
dbSNP: rs112735431
rs112735431
24 0.683 0.320 17 80385145 missense variant G/A;C snv 2.6E-04; 8.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs113388242
rs113388242
3 0.925 0.080 3 184327376 missense variant C/T snv 4.0E-05 7.0E-05 0.010 1.000 1 2011 2011
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs11547328
rs11547328
27 0.701 0.360 12 57751648 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs11571833
rs11571833
43 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.010 1.000 1 2019 2019
dbSNP: rs1159077388
rs1159077388
1 1.000 16 82164193 missense variant A/T snv 4.3E-06 0.010 1.000 1 2000 2000
dbSNP: rs1159805691
rs1159805691
4 0.851 0.080 16 1792266 frameshift variant T/- del 7.0E-06 0.010 1.000 1 1996 1996