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: rs1555661648
rs1555661648
6 0.882 0.240 18 26862297 missense variant C/G snv 0.700 0
dbSNP: rs1429108797
rs1429108797
1 1.000 0.160 X 63638143 missense variant T/C snv 0.010 1.000 1 2019 2019
dbSNP: rs122460151
rs122460151
5 0.851 0.280 X 2958423 missense variant C/G snv 7.1E-05 3.8E-05 0.010 1.000 1 1999 1999
dbSNP: rs775769424
rs775769424
11 0.776 0.280 11 66530934 frameshift variant TG/- del 1.4E-05 0.700 0
dbSNP: rs1555639076
rs1555639076
16 0.790 0.400 17 67893677 splice donor variant A/- delins 0.700 1.000 1 2017 2017
dbSNP: rs786200963
rs786200963
6 0.827 0.200 19 13371683 splice region variant C/T snv 0.700 1.000 1 2015 2015
dbSNP: rs1057519429
rs1057519429
15 0.807 0.240 19 13235666 missense variant C/G;T snv 0.700 0
dbSNP: rs777323132
rs777323132
4 0.882 0.240 15 42399616 missense variant C/T snv 4.0E-06; 2.4E-05 7.0E-06 0.700 0
dbSNP: rs387906271
rs387906271
11 0.790 0.320 8 60801598 splice region variant G/C snv 0.700 0
dbSNP: rs1246651989
rs1246651989
2 0.925 0.160 1 197435519 frameshift variant AG/- delins 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs137854544
rs137854544
10 0.827 0.320 20 45894040 missense variant T/A snv 3.6E-05 4.9E-05 0.700 1.000 3 1996 2014
dbSNP: rs875989777
rs875989777
9 0.851 0.320 20 45894704 frameshift variant AT/- delins 0.700 1.000 3 1996 2014
dbSNP: rs770499406
rs770499406
4 0.882 0.280 5 60898350 missense variant C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs104894396
rs104894396
28 0.672 0.400 13 20189511 stop gained C/T snv 5.8E-04 1.1E-04 0.700 0
dbSNP: rs202247813
rs202247813
2 1.000 0.160 5 151855144 missense variant C/G snv 0.010 1.000 1 2012 2012
dbSNP: rs762864856
rs762864856
3 0.925 0.200 5 151856384 splice acceptor variant C/G;T snv 8.0E-06 0.700 0
dbSNP: rs1555507479
rs1555507479
12 0.807 0.160 16 56336799 missense variant C/A snv 0.700 0
dbSNP: rs1555055028
rs1555055028
5 0.882 0.160 11 124923996 missense variant G/A snv 0.700 0
dbSNP: rs1556955128
rs1556955128
3 0.882 0.240 X 53573795 missense variant A/C snv 0.700 0
dbSNP: rs1557036768
rs1557036768
44 0.708 0.320 X 53647390 missense variant C/T snv 0.700 0
dbSNP: rs797045140
rs797045140
6 0.827 0.200 X 53238308 splice region variant TG/- delins 0.700 1.000 1 2016 2016
dbSNP: rs104894700
rs104894700
2 0.925 0.200 19 50323609 missense variant G/C;T snv 0.010 1.000 1 2010 2010
dbSNP: rs797044872
rs797044872
3 0.882 0.200 19 50323685 missense variant C/T snv 0.010 1.000 1 2011 2011
dbSNP: rs1565091862
rs1565091862
4 0.925 0.160 10 76944829 missense variant T/C snv 0.700 0
dbSNP: rs1251778848
rs1251778848
11 0.790 0.400 12 49039277 stop gained G/A snv 0.700 0