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: rs189234741
rs189234741
2 0.925 0.080 16 57962611 splice acceptor variant C/G;T snv 4.0E-06; 7.2E-05 0.700 1.000 3 2011 2015
dbSNP: rs201162411
rs201162411
1 1.000 0.080 16 57901371 missense variant T/A snv 1.1E-03 1.1E-03 0.700 1.000 3 2011 2019
dbSNP: rs1352458826
rs1352458826
1 1.000 0.080 16 57916161 stop gained G/A snv 4.0E-06 2.1E-05 0.700 0
dbSNP: rs1555488069
rs1555488069
1 1.000 0.080 16 57897911 stop gained C/A snv 0.700 0
dbSNP: rs1555488573
rs1555488573
1 1.000 0.080 16 57903940 stop gained G/T snv 0.700 0
dbSNP: rs1555493707
rs1555493707
1 1.000 0.080 16 57959886 splice donor variant A/T snv 0.700 0
dbSNP: rs527236060
rs527236060
1 1.000 0.080 16 57964482 splice region variant C/G;T snv 4.8E-05; 8.0E-06 0.700 0
dbSNP: rs527236061
rs527236061
1 1.000 0.080 16 57904843 frameshift variant -/T delins 0.700 0
dbSNP: rs750620302
rs750620302
1 1.000 0.080 16 57959985 stop gained G/A;T snv 4.8E-06; 4.8E-06 0.700 0
dbSNP: rs756806434
rs756806434
1 1.000 0.080 16 57897496 frameshift variant -/CACC delins 3.5E-05 0.700 0
dbSNP: rs760373259
rs760373259
1 1.000 0.080 16 57915268 missense variant C/T snv 1.6E-05 7.0E-06 0.700 0
dbSNP: rs878853394
rs878853394
2 1.000 0.080 16 57964158 stop gained G/A snv 0.700 0
dbSNP: rs13336595
rs13336595
1 1.000 0.080 16 57963056 missense variant C/A;T snv 5.2E-05; 0.78 0.010 < 0.001 1 2013 2013
dbSNP: rs17821448
rs17821448
1 1.000 0.080 16 57963028 synonymous variant G/A snv 0.43 0.37 0.010 < 0.001 1 2013 2013
dbSNP: rs8055343
rs8055343
1 1.000 0.080 16 57964163 missense variant C/A;G;T snv 8.0E-06; 8.0E-03 0.010 < 0.001 1 2013 2013