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: rs61746008
rs61746008
FBN1
0.882 0.160 15 48412619 missense variant G/A;C snv 7.3E-04
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.030 1.000 3 2004 2016
dbSNP: rs61746008
rs61746008
FBN1
0.882 0.160 15 48412619 missense variant G/A;C snv 7.3E-04
CUI: C0409495
Disease: Protrusio acetabuli
Protrusio acetabuli 		0.010 1.000 1 2009 2009
dbSNP: rs61746008
rs61746008
FBN1
0.882 0.160 15 48412619 missense variant G/A;C snv 7.3E-04
CUI: C4551649
Disease: Congenital Dysplasia Of The Hip
Congenital Dysplasia Of The Hip 		0.010 < 0.001 1 2009 2009