Source: BEFREE ×
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: rs1136452
rs1136452
SFTPA1
2 0.925 0.120 10 79612410 missense variant C/A;G;T snv 4.0E-06; 7.0E-03; 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs113993959
rs113993959
CFTR
8 0.677 0.280 7 117587778 stop gained G/A;T snv 8.0E-06; 3.4E-04 0.010 1.000 1 2001 2001
dbSNP: rs17886395
rs17886395
SFTPA2
2 0.925 0.120 10 79558907 missense variant C/G snv 0.19 0.16 0.010 1.000 1 2003 2003
dbSNP: rs4077515
rs4077515
CARD9
8 0.763 0.360 9 136372044 missense variant C/A;T snv 4.0E-06; 0.41 0.010 1.000 1 2018 2018
dbSNP: rs74767530
rs74767530
CFTR
4 0.851 0.320 7 117627537 stop gained C/T snv 5.6E-05 4.9E-05 0.010 1.000 1 2001 2001
dbSNP: rs78655421
rs78655421
CFTR
17 0.716 0.240 7 117530975 missense variant G/A;C;T snv 1.5E-03; 1.2E-05 0.010 1.000 1 2001 2001