Source: CLINVAR ×
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
5 0.790 0.240 16 2317763 missense variant T/A;C snv 2.3E-03 0.700 1.000 16 2005 2014
dbSNP: rs876657633
rs876657633
ABCA3
1 1.000 0.120 16 2300001 splice donor variant GCACCTT/TGG delins 0.700 1.000 2 2008 2014
dbSNP: rs113993959
rs113993959
CFTR
19 0.677 0.280 7 117587778 stop gained G/A;T snv 8.0E-06; 3.4E-04 0.700 0
dbSNP: rs74597325
rs74597325
CFTR
16 0.708 0.320 7 117587811 stop gained C/G;T snv 6.8E-05 0.700 0