Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs5743890
rs5743890
TOLLIP
0.925 0.040 11 1304599 intron variant T/C snv 9.7E-02
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		0.830 1.000 3 2013 2019
dbSNP: rs11568819
rs11568819
MMP7
1.000 0.040 11 102530902 upstream gene variant G/A snv 5.5E-02
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		0.010 1.000 1 2012 2012
dbSNP: rs121917835
rs121917835
BMP1 ; SFTPC
0.925 0.040 8 22164010 missense variant T/A snv
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		0.010 1.000 1 2008 2008
dbSNP: rs1881984
rs1881984 		1.000 0.040 3 169746671 intergenic variant A/G snv 0.30
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		0.010 1.000 1 2019 2019
dbSNP: rs62025270
rs62025270
LOC101929679
1.000 0.040 15 85756967 upstream gene variant G/A snv 0.17
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		0.710 1.000 1 2017 2017
dbSNP: rs121917834
rs121917834
SFTPC
0.790 0.080 8 22163096 missense variant T/A;C snv 3.6E-05
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		0.030 1.000 3 2010 2019
dbSNP: rs2076295
rs2076295
DSP
0.882 0.080 6 7562999 intron variant T/G snv 0.46
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		0.730 1.000 3 2016 2019
dbSNP: rs12602273
rs12602273
TP53
0.851 0.080 17 7679695 intron variant C/G snv 0.15
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		0.010 1.000 1 2012 2012
dbSNP: rs2744371
rs2744371
DSP
0.925 0.080 6 7553941 intron variant A/C;G snv
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		0.010 1.000 1 2016 2016
dbSNP: rs2395655
rs2395655
CDKN1A ; DINOL
0.882 0.120 6 36677919 5 prime UTR variant A/G snv 0.43 0.49
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		0.010 1.000 1 2018 2018
dbSNP: rs3750920
rs3750920
TOLLIP
0.807 0.120 11 1288726 synonymous variant C/T snv 0.40 0.38
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		0.010 1.000 1 2015 2015
dbSNP: rs733590
rs733590
CDKN1A ; DINOL
0.882 0.120 6 36677426 intron variant T/C snv 0.41
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		0.010 1.000 1 2012 2012
dbSNP: rs868903
rs868903
MUC5B
0.882 0.120 11 1221460 upstream gene variant T/C snv 0.47
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		0.010 1.000 1 2019 2019
dbSNP: rs397728201
rs397728201
SFTPA1
0.925 0.160 10 79614033 stop gained C/A;T snv 3.6E-05; 4.0E-06
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		0.010 1.000 1 2012 2012
dbSNP: rs628977
rs628977
ADAM33
0.851 0.160 20 3669074 intron variant T/C snv 0.65
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		0.010 1.000 1 2014 2014
dbSNP: rs8182352
rs8182352 		0.827 0.160 17 5651667 intergenic variant T/C snv 0.44
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		0.010 1.000 1 2011 2011
dbSNP: rs1061581
rs1061581
HSPA1A ; HSPA1L
0.827 0.200 6 31816809 synonymous variant G/A snv
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		0.010 1.000 1 2015 2015
dbSNP: rs35705950
rs35705950 		0.763 0.240 11 1219991 splice region variant G/A;T snv
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		0.900 0.971 33 2011 2019
dbSNP: rs2227307
rs2227307
CXCL8
0.851 0.240 4 73740952 intron variant T/G snv 0.45
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		0.010 1.000 1 2011 2011
dbSNP: rs2305619
rs2305619
PTX3 ; VEPH1
0.882 0.240 3 157437072 intron variant A/G snv 0.55 0.50
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		0.010 1.000 1 2012 2012
dbSNP: rs1043618
rs1043618
HSPA1A ; HSPA1L
0.752 0.280 6 31815730 5 prime UTR variant G/A;C;T snv 0.39; 2.0E-05; 4.0E-06
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		0.010 1.000 1 2015 2015
dbSNP: rs11568818
rs11568818
MMP7
0.763 0.280 11 102530930 upstream gene variant T/A;C snv
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		0.010 1.000 1 2012 2012
dbSNP: rs2227956
rs2227956
HSPA1L
0.752 0.400 6 31810495 missense variant G/A;C;T snv 0.87
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		0.010 1.000 1 2015 2015
dbSNP: rs2075800
rs2075800
HSPA1L
0.776 0.440 6 31810169 missense variant C/T snv 0.32 0.25
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		0.010 1.000 1 2015 2015
dbSNP: rs5029939
rs5029939
TNFAIP3
0.701 0.440 6 137874586 intron variant C/G snv 0.13
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		0.010 1.000 1 2010 2010