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: 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: 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: 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: 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: rs2004640
rs2004640
IRF5
0.662 0.520 7 128938247 splice donor variant T/G snv 0.52
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		0.010 1.000 1 2009 2009
dbSNP: rs2736100
rs2736100
TERT
0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		0.840 1.000 4 2008 2019
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: 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: 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: rs4073
rs4073
CXCL8
0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		0.010 1.000 1 2011 2011
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: 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