Source: UNIPROT

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: 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: rs752106647
rs752106647
FN1
1.000 0.080 2 215406406 missense variant C/T snv 8.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0