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: rs1206843725
rs1206843725
FBN2
1.000 0.080 5 128338938 missense variant C/A snv
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		0.800 1.000 10 1973 2016
dbSNP: rs137852825
rs137852825
FBN2
1.000 0.080 5 128335544 missense variant C/T snv
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		0.800 1.000 10 1995 2016
dbSNP: rs137852826
rs137852826
FBN2
1.000 0.080 5 128395182 missense variant C/T snv
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		0.800 1.000 10 1995 2016
dbSNP: rs137852827
rs137852827
FBN2
1.000 0.080 5 128344385 missense variant C/G snv
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		0.800 1.000 10 1995 2016
dbSNP: rs137852828
rs137852828
FBN2
1.000 0.080 5 128338980 missense variant C/A snv 4.0E-06
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		0.800 1.000 10 1995 2016
dbSNP: rs28931602
rs28931602
FBN2
1.000 0.080 5 128335543 missense variant A/C snv
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		0.800 1.000 10 1995 2016
dbSNP: rs794727560
rs794727560
FBN2
1.000 0.080 5 128332983 missense variant C/T snv
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		0.800 1.000 10 1995 2016
dbSNP: rs267606802
rs267606802
FBN2
1.000 0.080 5 128335525 missense variant A/T snv
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		0.800 1.000 1 2012 2012
dbSNP: rs1554123065
rs1554123065
FBN2
1.000 0.080 5 128338114 missense variant C/T snv
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		0.700 1.000 10 1995 2016
dbSNP: rs145259927
rs145259927
FBN2
1.000 0.080 5 128366419 missense variant C/T snv 1.5E-03 1.4E-03
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		0.700 1.000 9 1995 2016
dbSNP: rs863223567
rs863223567
FBN2
1.000 0.080 5 128338002 missense variant C/T snv
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		0.700 0