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: rs587777245
rs587777245
1 1.000 0.040 5 150059771 frameshift variant -/A delins 0.700 1.000 1 2014 2014
dbSNP: rs690016547
rs690016547
1 1.000 0.040 5 150060942 missense variant A/C snv 0.700 1.000 1 2013 2013
dbSNP: rs281860278
rs281860278
1 1.000 0.040 5 150055288 missense variant A/C;G snv 4.8E-05 0.700 0
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: rs690016550
rs690016550
1 1.000 0.040 5 150056100 missense variant A/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: 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: rs690016563
rs690016563
1 1.000 0.040 5 150061731 missense variant A/G snv 0.700 1.000 1 1989 1989
dbSNP: rs281860277
rs281860277
1 1.000 0.040 5 150056034 missense variant A/G snv 0.700 0
dbSNP: rs397515557
rs397515557
1 1.000 0.040 5 150056097 missense variant A/G snv 0.700 0
dbSNP: rs690016549
rs690016549
1 1.000 0.040 5 150056130 missense variant A/G;T 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: rs690016565
rs690016565
1 1.000 0.040 5 150055329 missense variant A/T snv 2.4E-05 4.9E-05 0.700 1.000 1 2015 2015
dbSNP: rs281860273
rs281860273
1 1.000 0.040 5 150056337 missense variant A/T snv 0.700 0
dbSNP: rs281860276
rs281860276
1 1.000 0.040 5 150056032 inframe deletion AGA/- delins 0.700 0
dbSNP: rs387906662
rs387906662
1 1.000 0.040 5 150056071 missense variant C/A snv 0.800 1.000 2 2011 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: rs281860281
rs281860281
1 1.000 0.040 5 150056316 missense variant C/A;T snv 0.730 1.000 3 2013 2015
dbSNP: rs690016551
rs690016551
1 1.000 0.040 5 150056039 missense variant C/G snv 0.700 1.000 1 2013 2013
dbSNP: rs281860275
rs281860275
1 1.000 0.040 5 150056214 splice region variant C/G snv 0.700 0
dbSNP: rs690016557
rs690016557
1 1.000 0.040 5 150056068 missense variant C/G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs281860271
rs281860271
1 1.000 0.040 5 150057298 missense variant C/G;T snv 1.2E-05 0.700 0