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: rs35705950
rs35705950 		13 0.763 0.240 11 1219991 splice region variant G/A;T snv 0.040 1.000 4 2011 2019
dbSNP: rs1451499324
rs1451499324
BMP1 ; SFTPC
2 0.925 0.080 8 22163902 missense variant C/G snv 8.1E-06 1.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs5743890
rs5743890
TOLLIP
4 0.925 0.040 11 1304599 intron variant T/C snv 9.7E-02 0.010 1.000 1 2019 2019
dbSNP: rs754831645
rs754831645
SFTPC
2 0.925 0.080 8 22163134 missense variant G/A snv 4.0E-06 0.010 1.000 1 2014 2014