rs1057518909, FBN1

N. diseases: 5
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.
Congenital pectus excavatum
CUI: C0016842
Disease: Congenital pectus excavatum
36 0.925 0.120 15 48534099 frameshift variant CATT/- delins 0.700 0
Hernia, Inguinal
CUI: C0019294
Disease: Hernia, Inguinal
21 0.925 0.120 15 48534099 frameshift variant CATT/- delins 0.700 0
Myopia
CUI: C0027092
Disease: Myopia
167 0.925 0.120 15 48534099 frameshift variant CATT/- delins 0.700 0
Range of joint movement increased
CUI: C1844820
Disease: Range of joint movement increased
46 0.925 0.120 15 48534099 frameshift variant CATT/- delins 0.700 0
Tall stature
CUI: C0241240
Disease: Tall stature
14 0.925 0.120 15 48534099 frameshift variant CATT/- delins 0.700 0