Gene: ABCA3 ×
Source: ALL
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: rs149989682
rs149989682
ABCA3
10 0.790 0.240 16 2317763 missense variant T/A;C snv 2.3E-03 0.020 1.000 2 2012 2018
dbSNP: rs117603931
rs117603931
ABCA3
4 0.882 0.080 16 2319591 missense variant C/T snv 5.7E-03 6.5E-03 0.010 1.000 1 2018 2018
dbSNP: rs549977217
rs549977217
ABCA3
1 16 2284869 missense variant C/T snv 4.6E-04 1.0E-04 0.010 1.000 1 2017 2017
dbSNP: rs768483175
rs768483175
ABCA3
1 16 2319832 missense variant G/A snv 2.4E-05 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs879159551
rs879159551
ABCA3
1 16 2319811 missense variant G/T snv 0.010 1.000 1 2018 2018