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: rs387906662
rs387906662
1 1.000 0.040 5 150056071 missense variant C/A snv 0.800 1.000 2 2011 2014
dbSNP: rs281860281
rs281860281
1 1.000 0.040 5 150056316 missense variant C/A;T snv 0.730 1.000 3 2013 2015
dbSNP: rs587777247
rs587777247
1 1.000 0.040 5 150056319 missense variant G/A;T snv 0.710 1.000 5 2013 2016
dbSNP: rs397515556
rs397515556
1 1.000 0.040 5 150056332 missense variant G/A snv 0.710 1.000 2 2012 2013
dbSNP: rs281860270
rs281860270
1 1.000 0.040 5 150057309 missense variant A/G snv 0.710 1.000 1 2013 2013
dbSNP: rs281860274
rs281860274
1 1.000 0.040 5 150056280 missense variant A/G snv 4.0E-06 0.710 1.000 1 2012 2012
dbSNP: rs281860279
rs281860279
1 1.000 0.040 5 150055267 missense variant A/G snv 0.710 1.000 1 2013 2013
dbSNP: rs690016548
rs690016548
2 0.925 0.080 5 150056331 missense variant C/T snv 0.700 1.000 2 2013 2013
dbSNP: rs587777245
rs587777245
1 1.000 0.040 5 150059771 frameshift variant -/A delins 0.700 1.000 1 2014 2014
dbSNP: rs587777246
rs587777246
1 1.000 0.040 5 150056218 splice donor variant C/A snv 0.700 1.000 1 2014 2014
dbSNP: rs690016546
rs690016546
1 1.000 0.040 5 150061777 frameshift variant T/- del 0.700 1.000 1 2013 2013
dbSNP: rs690016547
rs690016547
1 1.000 0.040 5 150060942 missense variant A/C snv 0.700 1.000 1 2013 2013
dbSNP: rs690016549
rs690016549
1 1.000 0.040 5 150056130 missense variant A/G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs690016550
rs690016550
1 1.000 0.040 5 150056100 missense variant A/G snv 0.700 1.000 1 2013 2013
dbSNP: rs690016551
rs690016551
1 1.000 0.040 5 150056039 missense variant C/G snv 0.700 1.000 1 2013 2013
dbSNP: rs690016552
rs690016552
1 1.000 0.040 5 150055325 missense variant A/G snv 0.700 1.000 1 2013 2013
dbSNP: rs690016553
rs690016553
1 1.000 0.040 5 150054384 missense variant G/A snv 0.700 1.000 1 2013 2013
dbSNP: rs690016554
rs690016554
1 1.000 0.040 5 150054432 splice acceptor variant T/C snv 0.700 1.000 1 2013 2013
dbSNP: rs690016555
rs690016555
1 1.000 0.040 5 150056052 missense variant A/T snv 0.700 1.000 1 2013 2013
dbSNP: rs690016556
rs690016556
1 1.000 0.040 5 150055262 stop gained G/A snv 0.700 1.000 1 2013 2013
dbSNP: rs690016557
rs690016557
1 1.000 0.040 5 150056068 missense variant C/G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs690016558
rs690016558
1 1.000 0.040 5 150056053 missense variant T/A snv 0.700 1.000 1 2014 2014
dbSNP: rs690016559
rs690016559
1 1.000 0.040 5 150060874 missense variant A/G snv 0.700 1.000 1 2014 2014
dbSNP: rs690016560
rs690016560
1 1.000 0.040 5 150054368 missense variant A/G snv 0.700 1.000 1 2014 2014
dbSNP: rs690016561
rs690016561
1 1.000 0.040 5 150056283 missense variant T/G snv 0.700 1.000 1 2013 2013