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: rs113993959
rs113993959
CFTR
25 0.677 0.280 7 117587778 stop gained G/A;T snv 8.0E-06; 3.4E-04 0.010 1.000 1 2018 2018
dbSNP: rs3024477
rs3024477
F13A1
3 0.882 0.160 6 6250887 missense variant T/A snv 1.8E-02 1.9E-02 0.010 1.000 1 2018 2018
dbSNP: rs5982
rs5982
F13A1
3 0.882 0.160 6 6174633 missense variant G/A snv 0.21 0.19 0.010 1.000 1 2018 2018