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: rs1064796453
rs1064796453
2 3 41235799 stop gained C/A;T snv 0.700 1.000 22 1991 2017
dbSNP: rs1553631770
rs1553631770
4 1.000 3 41233398 missense variant A/T snv 0.700 1.000 22 1991 2017
dbSNP: rs1553632361
rs1553632361
1 3 41236468 frameshift variant AG/- delins 0.700 1.000 22 1991 2017
dbSNP: rs775104326
rs775104326
10 0.776 0.160 3 41224995 stop gained C/A;T snv 4.0E-06 0.700 1.000 22 1991 2017
dbSNP: rs778624338
rs778624338
2 1.000 0.080 3 41227270 stop gained C/A;T snv 2.0E-05 7.0E-06 0.700 1.000 22 1991 2017
dbSNP: rs797044875
rs797044875
3 1.000 3 41235763 missense variant G/A snv 0.700 1.000 22 1991 2017