Source: CLINVAR

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: rs1057519321
rs1057519321
FBN2
0.807 0.160 5 128349391 missense variant C/A;T snv
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		0.700 0
dbSNP: rs1057519321
rs1057519321
FBN2
0.807 0.160 5 128349391 missense variant C/A;T snv
CUI: C4025596
Disease: Abnormality of connective tissue
Abnormality of connective tissue 		0.700 0
dbSNP: rs1057519321
rs1057519321
FBN2
0.807 0.160 5 128349391 missense variant C/A;T snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.700 0