Source: ALL

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: rs137854486
rs137854486
FN1 ; LOC112268430
1.000 0.120 2 215376612 missense variant A/T snv
CUI: C1866075
Disease: GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2 (disorder)
GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2 (disorder) 		0.800 1.000 1 2008 2008
dbSNP: rs137854487
rs137854487
FN1 ; LOC112268430
1.000 0.120 2 215375685 missense variant A/C;G snv
CUI: C1866075
Disease: GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2 (disorder)
GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2 (disorder) 		0.800 1.000 1 2008 2008
dbSNP: rs137854488
rs137854488
FN1
1.000 0.120 2 215406306 missense variant T/C snv
CUI: C1866075
Disease: GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2 (disorder)
GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2 (disorder) 		0.800 1.000 1 2008 2008
dbSNP: rs1553658926
rs1553658926
FN1
0.925 0.160 2 215428246 missense variant A/C snv
CUI: C0432221
Disease: Spondylometaphyseal dysplasia, 'corner fracture' type
Spondylometaphyseal dysplasia, 'corner fracture' type 		0.800 1.000 1 2017 2017
dbSNP: rs1553659131
rs1553659131
FN1
0.925 0.160 2 215428306 missense variant A/C snv
CUI: C0432221
Disease: Spondylometaphyseal dysplasia, 'corner fracture' type
Spondylometaphyseal dysplasia, 'corner fracture' type 		0.800 1.000 1 2017 2017
dbSNP: rs1553667072
rs1553667072
FN1
0.882 0.200 2 215433372 missense variant A/G snv
CUI: C0432221
Disease: Spondylometaphyseal dysplasia, 'corner fracture' type
Spondylometaphyseal dysplasia, 'corner fracture' type 		0.800 1.000 1 2017 2017
dbSNP: rs1553669703
rs1553669703
FN1 ; LOC105373868
0.925 0.160 2 215434713 missense variant C/A snv
CUI: C0432221
Disease: Spondylometaphyseal dysplasia, 'corner fracture' type
Spondylometaphyseal dysplasia, 'corner fracture' type 		0.800 1.000 1 2017 2017
dbSNP: rs1250259
rs1250259
FN1 ; LOC105373868
1.000 0.040 2 215435759 missense variant T/A snv 0.76 0.79
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 2 2019 2019
dbSNP: rs1181638652
rs1181638652
FN1
0.925 0.160 2 215430725 missense variant G/A;C snv 1.2E-05 7.0E-06
CUI: C0432221
Disease: Spondylometaphyseal dysplasia, 'corner fracture' type
Spondylometaphyseal dysplasia, 'corner fracture' type 		0.700 1.000 1 2017 2017
dbSNP: rs1250247
rs1250247
FN1 ; LOC105373868
2 215434906 intron variant C/G;T snv
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2017 2017
dbSNP: rs1250248
rs1250248
FN1
1.000 0.040 2 215422370 intron variant A/G snv 0.77
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2017 2017
dbSNP: rs1250248
rs1250248
FN1
1.000 0.040 2 215422370 intron variant A/G snv 0.77
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2019 2019
dbSNP: rs1250258
rs1250258
FN1 ; LOC105373868
1.000 0.040 2 215435462 intron variant C/T snv 0.79
CUI: C0523633
Disease: Fibronectin measurement
Fibronectin measurement 		0.700 1.000 1 2017 2017
dbSNP: rs1250258
rs1250258
FN1 ; LOC105373868
1.000 0.040 2 215435462 intron variant C/T snv 0.79
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 1 2019 2019
dbSNP: rs1250258
rs1250258
FN1 ; LOC105373868
1.000 0.040 2 215435462 intron variant C/T snv 0.79
CUI: C0014175
Disease: Endometriosis
Endometriosis 		0.700 1.000 1 2017 2017
dbSNP: rs1250259
rs1250259
FN1 ; LOC105373868
1.000 0.040 2 215435759 missense variant T/A snv 0.76 0.79
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1250259
rs1250259
FN1 ; LOC105373868
1.000 0.040 2 215435759 missense variant T/A snv 0.76 0.79
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 1 2019 2019
dbSNP: rs1250259
rs1250259
FN1 ; LOC105373868
1.000 0.040 2 215435759 missense variant T/A snv 0.76 0.79
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.700 1.000 1 2018 2018
dbSNP: rs1250259
rs1250259
FN1 ; LOC105373868
1.000 0.040 2 215435759 missense variant T/A snv 0.76 0.79
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2019 2019
dbSNP: rs17517928
rs17517928
FN1
1.000 0.040 2 215426636 intron variant C/T snv 0.24
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.700 1.000 1 2017 2017
dbSNP: rs6728999
rs6728999
FN1
2 215370323 missense variant C/A;G;T snv 4.0E-06; 8.6E-03
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs1064795155
rs1064795155
FN1
1.000 0.080 2 215428331 missense variant G/C snv
CUI: C0700635
Disease: Strudwick syndrome
Strudwick syndrome 		0.700 0
dbSNP: rs1181638652
rs1181638652
FN1
0.925 0.160 2 215430725 missense variant G/A;C snv 1.2E-05 7.0E-06
CUI: C0700635
Disease: Strudwick syndrome
Strudwick syndrome 		0.700 0
dbSNP: rs1373375768
rs1373375768
FN1
1.000 0.080 2 215361578 missense variant C/T snv 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.700 0
dbSNP: rs1553658926
rs1553658926
FN1
0.925 0.160 2 215428246 missense variant A/C snv
CUI: C0700635
Disease: Strudwick syndrome
Strudwick syndrome 		0.700 0