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: rs137852560
rs137852560
1 1.000 0.160 X 47576222 stop gained C/T snv 0.700 0
dbSNP: rs1556857481
rs1556857481
1 1.000 0.160 X 47574544 frameshift variant -/G delins 0.700 0
dbSNP: rs1556860663
rs1556860663
1 1.000 0.160 X 47605381 splice acceptor variant T/A snv 0.700 0
dbSNP: rs200533370
rs200533370
3 0.882 0.160 X 47574285 missense variant T/C snv 1.1E-03 1.4E-02 0.700 0
dbSNP: rs397514679
rs397514679
9 0.790 0.200 X 47574321 stop gained G/A snv 0.700 0
dbSNP: rs397514680
rs397514680
2 0.925 0.160 X 47574336 missense variant C/G;T snv 0.700 0
dbSNP: rs41298474
rs41298474
1 1.000 0.160 X 47575136 missense variant G/A snv 1.2E-03 3.8E-04 0.700 0