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: rs75932628
rs75932628
28 0.662 0.480 6 41161514 missense variant C/A;T snv 6.8E-05; 2.6E-03 0.020 0.500 2 2014 2015
dbSNP: rs104894002
rs104894002
7 0.790 0.320 6 41161557 stop gained G/A snv 2.0E-05 2.1E-05 0.010 1.000 1 2015 2015
dbSNP: rs201258663
rs201258663
6 0.807 0.320 6 41161457 missense variant G/A snv 5.6E-05 4.9E-05 0.010 1.000 1 2015 2015
dbSNP: rs766647311
rs766647311
3 0.882 0.080 6 41159841 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.010 < 0.001 1 2020 2020
dbSNP: rs797044603
rs797044603
5 0.827 0.320 6 41161541 missense variant T/C snv 4.0E-06 0.010 1.000 1 2015 2015