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: rs1057519320
rs1057519320
FBN1
0.807 0.160 15 48444574 missense variant G/A snv
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		0.700 0
dbSNP: rs1057519320
rs1057519320
FBN1
0.807 0.160 15 48444574 missense variant G/A snv
CUI: C4025596
Disease: Abnormality of connective tissue
Abnormality of connective tissue 		0.700 0
dbSNP: rs1057519320
rs1057519320
FBN1
0.807 0.160 15 48444574 missense variant G/A snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.700 0
dbSNP: rs1057519320
rs1057519320
FBN1
0.807 0.160 15 48444574 missense variant G/A snv
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.010 1.000 1 2018 2018
dbSNP: rs1057519320
rs1057519320
FBN1
0.807 0.160 15 48444574 missense variant G/A snv
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 1.000 1 2018 2018
dbSNP: rs1057519320
rs1057519320
FBN1
0.807 0.160 15 48444574 missense variant G/A snv
CUI: C1737329
Disease: Dysmorphism
Dysmorphism 		0.010 1.000 1 2018 2018
dbSNP: rs1057519320
rs1057519320
FBN1
0.807 0.160 15 48444574 missense variant G/A snv
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.010 1.000 1 2018 2018