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: rs1250248
rs1250248
FN1
1.000 0.040 2 215422370 intron variant A/G snv 0.77
CUI: C0014175
Disease: Endometriosis
Endometriosis
0.030 1.000 3 2013 2019
dbSNP: rs1418810723
rs1418810723
FN1
0.851 0.080 2 215409981 missense variant A/T snv 8.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.030 1.000 3 2007 2016
dbSNP: rs1418810723
rs1418810723
FN1
0.851 0.080 2 215409981 missense variant A/T snv 8.0E-06
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.020 1.000 2 2007 2011
dbSNP: rs1418810723
rs1418810723
FN1
0.851 0.080 2 215409981 missense variant A/T snv 8.0E-06
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.020 1.000 2 2006 2011
dbSNP: rs530514393
rs530514393
FN1
1.000 0.080 2 215408367 missense variant T/A;C snv 2.2E-04; 4.0E-06
CUI: C0265216
Disease: X-linked hydrocephalus syndrome
X-linked hydrocephalus syndrome
0.020 1.000 2 1997 2012
dbSNP: rs80101897
rs80101897
FN1
1.000 0.080 2 215399334 missense variant T/C snv 4.0E-06 2.1E-05
CUI: C0265216
Disease: X-linked hydrocephalus syndrome
X-linked hydrocephalus syndrome
0.020 1.000 2 1997 2012
dbSNP: rs1224741906
rs1224741906
FN1
1.000 0.120 2 215408182 missense variant G/A snv 4.0E-06
CUI: C0268398
Disease: Familial lichen amyloidosis
Familial lichen amyloidosis
0.010 1.000 1 2010 2010
dbSNP: rs1250248
rs1250248
FN1
1.000 0.040 2 215422370 intron variant A/G snv 0.77
CUI: C0029928
Disease: Ovarian Diseases
Ovarian Diseases
0.010 1.000 1 2013 2013
dbSNP: rs1277989297
rs1277989297
FN1
0.925 0.200 2 215428270 stop gained G/A snv
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
0.010 1.000 1 2016 2016
dbSNP: rs1277989297
rs1277989297
FN1
0.925 0.200 2 215428270 stop gained G/A snv
CUI: C1533041
Disease: Primary congenital glaucoma
Primary congenital glaucoma
0.010 1.000 1 2016 2016
dbSNP: rs1418810723
rs1418810723
FN1
0.851 0.080 2 215409981 missense variant A/T snv 8.0E-06
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid
0.010 1.000 1 2011 2011
dbSNP: rs1418810723
rs1418810723
FN1
0.851 0.080 2 215409981 missense variant A/T snv 8.0E-06
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.010 1.000 1 2011 2011
dbSNP: rs1418810723
rs1418810723
FN1
0.851 0.080 2 215409981 missense variant A/T snv 8.0E-06
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.010 1.000 1 2011 2011
dbSNP: rs1418810723
rs1418810723
FN1
0.851 0.080 2 215409981 missense variant A/T snv 8.0E-06
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.010 1.000 1 2006 2006
dbSNP: rs1418810723
rs1418810723
FN1
0.851 0.080 2 215409981 missense variant A/T snv 8.0E-06
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.010 1.000 1 2011 2011
dbSNP: rs1418810723
rs1418810723
FN1
0.851 0.080 2 215409981 missense variant A/T snv 8.0E-06
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.010 1.000 1 2011 2011
dbSNP: rs1553667072
rs1553667072
FN1
0.882 0.200 2 215433372 missense variant A/G snv
CUI: C1690006
Disease: Lattice corneal dystrophy Type I
Lattice corneal dystrophy Type I
0.010 1.000 1 2012 2012
dbSNP: rs370103949
rs370103949
FN1
1.000 0.120 2 215406438 missense variant G/A;T snv 2.0E-05; 4.0E-06
CUI: C0268398
Disease: Familial lichen amyloidosis
Familial lichen amyloidosis
0.010 1.000 1 2010 2010
dbSNP: rs6707530
rs6707530
2 215375861 intron variant T/C;G snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 1.000 1 2014 2014
dbSNP: rs6725958
rs6725958
FN1
1.000 0.040 2 215397898 intron variant A/C snv 0.61 0.61
CUI: C0409959
Disease: Osteoarthritis, Knee
Osteoarthritis, Knee
0.010 1.000 1 2014 2014
dbSNP: rs757231578
rs757231578
FN1
1.000 0.080 2 215433387 missense variant A/C;T snv 2.8E-05
CUI: C0014527
Disease: Epidermolysis Bullosa
Epidermolysis Bullosa
0.010 1.000 1 2012 2012
dbSNP: rs777763524
rs777763524
FN1
1.000 0.040 2 215431961 missense variant C/T snv 8.0E-06 7.0E-06
CUI: C0012736
Disease: Dissecting aortic aneurysm
Dissecting aortic aneurysm
0.010 1.000 1 2017 2017
dbSNP: rs940739
rs940739
FN1
1.000 0.040 2 215391428 intron variant T/A snv 0.32
CUI: C0409959
Disease: Osteoarthritis, Knee
Osteoarthritis, Knee
0.010 1.000 1 2014 2014