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: rs1057518856
rs1057518856
5 0.878 0.179 16 2102397 missense variant A/T snp 0.700 1 2015 2015
dbSNP: rs1057518952
rs1057518952
3 0.923 0.143 6 52024728 frameshift variant A/AC in-del 0.700 1 2015 2015
dbSNP: rs201893408
rs201893408
24 0.707 0.429 8 93795970 missense variant T/A,C snp 8.0E-06; 1.5E-04 9.6E-05 0.700 1 2015 2015
dbSNP: rs752362727
rs752362727
20 0.744 0.357 8 93786255 missense variant C/T snp 2.0E-05 0.700 1 2015 2015
dbSNP: rs786204707
rs786204707
4 0.878 0.179 6 52043636 stop gained C/T snp 0.700 1 2015 2015
dbSNP: rs1057518761
rs1057518761
1 1.000 0.071 10 100750693 splice acceptor variant AGGTACTACGAGACC/A in-del 0.700 0