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: rs761162914
rs761162914
FOXF1
1 1.000 0.080 16 86512933 missense variant C/T snv 8.0E-06 0.700 1.000 3 2009 2016
dbSNP: rs121909336
rs121909336
FOXF1 ; FENDRR
1 1.000 0.080 16 86510794 stop gained C/A snv 0.700 0
dbSNP: rs121909337
rs121909337
FOXF1
1 1.000 0.080 16 86513083 stop lost T/C snv 0.700 0
dbSNP: rs1567511932
rs1567511932
FOXF1
1 1.000 0.080 16 86513085 stop lost A/C snv 0.700 0
dbSNP: rs1157637439
rs1157637439
VARS2
4 0.882 0.120 6 30920187 missense variant A/G snv 0.010 1.000 1 2018 2018
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: 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