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: rs202166715
rs202166715
2 22 32049994 stop gained C/G;T snv 4.0E-06; 8.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1057519076
rs1057519076
3 0.925 0.200 19 43769805 missense variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs267606694
rs267606694
3 1.000 0.040 15 63345479 missense variant C/T snv 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs67376798
rs67376798
9 0.851 0.120 1 97082391 missense variant T/A snv 2.8E-03 3.3E-03 0.010 1.000 1 2014 2014
dbSNP: rs1555745467
rs1555745467
23 0.752 0.240 19 13262771 missense variant C/A snv 0.700 0
dbSNP: rs367814475
rs367814475
IVD
9 0.925 0.080 15 40415482 missense variant G/C;T snv 8.0E-06; 4.0E-06 0.700 0