rs869025411, FBN1

N. diseases: 4
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.925 0.160 15 48432911 missense variant A/G snv 0.700 1.000 29 1986 2016
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.925 0.160 15 48432911 missense variant A/G snv 0.700 1.000 29 1986 2016
Overgrowth
CUI: C1849265
Disease: Overgrowth
93 0.925 0.160 15 48432911 missense variant A/G snv 0.700 1.000 29 1986 2016
Marfan Syndrome
CUI: C0024796
Disease: Marfan Syndrome
1012 0.925 0.160 15 48432911 missense variant A/G snv 0.700 1.000 1 2012 2012