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: rs367543061
rs367543061
1 1.000 5 37187488 missense variant G/A snv 1.6E-05; 4.0E-06 2.1E-05 0.800 1.000 4 2012 2015
dbSNP: rs606231259
rs606231259
2 0.925 0.080 5 37244452 frameshift variant T/- del 7.0E-05 0.700 1.000 5 2014 2018
dbSNP: rs149170427
rs149170427
2 0.925 0.080 5 37198797 missense variant G/A snv 1.6E-05 2.1E-05 0.700 1.000 4 2013 2017
dbSNP: rs139675596
rs139675596
2 0.925 0.080 5 37165595 stop gained G/A snv 5.7E-05 0.700 1.000 2 2012 2015
dbSNP: rs749523755
rs749523755
4 0.882 0.080 5 37157810 stop gained A/T snv 2.4E-05 7.0E-06 0.700 1.000 2 2015 2015
dbSNP: rs777686211
rs777686211
5 0.851 0.200 5 37226776 frameshift variant A/-;AA delins 1.8E-04 0.700 1.000 2 2015 2017
dbSNP: rs1321423759
rs1321423759
2 0.925 0.080 5 37244373 splice donor variant A/T snv 1.3E-05 0.700 1.000 1 2012 2012
dbSNP: rs141153181
rs141153181
2 0.925 0.080 5 37198775 missense variant G/A;T snv 1.6E-05; 8.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs1414913269
rs1414913269
2 0.925 0.080 5 37243012 splice donor variant C/G snv 7.0E-06 0.700 1.000 1 2012 2012
dbSNP: rs141507441
rs141507441
1 1.000 5 37125330 stop gained G/A snv 3.2E-05 4.2E-05 0.700 1.000 1 2015 2015
dbSNP: rs145520487
rs145520487
1 1.000 5 37187826 synonymous variant A/G snv 6.5E-04 8.5E-04 0.700 1.000 1 2015 2015
dbSNP: rs147416429
rs147416429
1 1.000 5 37153973 stop gained G/A snv 2.0E-05 0.700 1.000 1 2015 2015
dbSNP: rs1554064102
rs1554064102
2 0.925 0.080 5 37148216 frameshift variant -/C ins 0.700 1.000 1 2015 2015
dbSNP: rs1554084360
rs1554084360
1 1.000 5 37184955 frameshift variant T/- delins 0.700 1.000 1 2018 2018
dbSNP: rs1561376123
rs1561376123
2 0.925 0.080 5 37139371 splice acceptor variant C/G snv 0.700 1.000 1 2012 2012
dbSNP: rs1561458987
rs1561458987
2 0.925 0.080 5 37164272 splice donor variant C/T snv 0.700 1.000 1 2012 2012
dbSNP: rs200444162
rs200444162
1 1.000 5 37182833 missense variant G/T snv 1.2E-05 2.1E-05 0.700 1.000 1 2018 2018
dbSNP: rs373704405
rs373704405
1 1.000 5 37231020 missense variant G/A snv 2.6E-05 2.8E-05 0.700 1.000 1 2015 2015
dbSNP: rs374144275
rs374144275
2 0.925 0.080 5 37120306 stop gained G/A snv 3.1E-05 1.9E-04 0.700 1.000 1 2015 2015
dbSNP: rs530569572
rs530569572
1 1.000 5 37226811 stop gained A/C snv 8.4E-05 6.3E-05 0.700 1.000 1 2015 2015
dbSNP: rs730882217
rs730882217
2 0.925 5 37153962 frameshift variant TC/- del 0.700 1.000 1 2015 2015
dbSNP: rs756856188
rs756856188
2 0.925 0.080 5 37244521 missense variant C/T snv 1.2E-04 1.4E-04 0.700 1.000 1 2015 2015
dbSNP: rs759649053
rs759649053
1 1.000 5 37183538 missense variant T/C;G snv 4.0E-06; 4.0E-06 0.700 1.000 1 2018 2018
dbSNP: rs760906097
rs760906097
1 1.000 5 37221459 missense variant G/A;T snv 3.5E-05 0.700 1.000 1 2015 2015
dbSNP: rs768675259
rs768675259
1 1.000 5 37170233 frameshift variant CA/- delins 7.0E-06 0.700 1.000 1 2015 2015