rs113871094, FBN1

N. diseases: 34
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 clubfoot
CUI: C0009081
Disease: Congenital clubfoot
44 0.683 0.320 15 48465820 stop gained G/A snv 0.700 0
Dysmorphic facies
CUI: C0424503
Disease: Dysmorphic facies
106 0.683 0.320 15 48465820 stop gained G/A snv 0.700 0
Scoliosis, unspecified
CUI: C0036439
Disease: Scoliosis, unspecified
135 0.683 0.320 15 48465820 stop gained G/A snv 0.700 0
Autistic Disorder
CUI: C0004352
Disease: Autistic Disorder
395 0.683 0.320 15 48465820 stop gained G/A snv 0.700 0
Familial thoracic aortic aneurysm and aortic dissection
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
442 0.683 0.320 15 48465820 stop gained G/A snv 0.700 1.000 5 2001 2011
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.683 0.320 15 48465820 stop gained G/A snv 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.683 0.320 15 48465820 stop gained G/A snv 0.700 0
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.683 0.320 15 48465820 stop gained G/A snv 0.700 0
Marfan Syndrome
CUI: C0024796
Disease: Marfan Syndrome
1012 0.683 0.320 15 48465820 stop gained G/A snv 0.700 1.000 5 2001 2011