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.
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
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.683 0.320 15 48465820 stop gained G/A snv 0.700 0
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
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
Autistic Disorder
CUI: C0004352
Disease: Autistic Disorder
395 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
Dysmorphic facies
CUI: C0424503
Disease: Dysmorphic facies
106 0.683 0.320 15 48465820 stop gained G/A snv 0.700 0
Congenital clubfoot
CUI: C0009081
Disease: Congenital clubfoot
44 0.683 0.320 15 48465820 stop gained G/A snv 0.700 0
Growth delay
CUI: C0456070
Disease: Growth delay
40 0.683 0.320 15 48465820 stop gained G/A snv 0.700 0
Flexion contracture
CUI: C0333068
Disease: Flexion contracture
32 0.683 0.320 15 48465820 stop gained G/A snv 0.700 0
Acromicric Dysplasia
CUI: C0265287
Disease: Acromicric Dysplasia
31 0.683 0.320 15 48465820 stop gained G/A snv 0.700 0
Congenital diaphragmatic hernia
CUI: C0235833
Disease: Congenital diaphragmatic hernia
31 0.683 0.320 15 48465820 stop gained G/A snv 0.700 0
OVERLAP CONNECTIVE TISSUE DISEASE
CUI: C1858556
Disease: OVERLAP CONNECTIVE TISSUE DISEASE
31 0.683 0.320 15 48465820 stop gained G/A snv 0.700 0
Small hand
CUI: C0575802
Disease: Small hand
31 0.683 0.320 15 48465820 stop gained G/A snv 0.700 0
Nasal bridge wide
CUI: C1849367
Disease: Nasal bridge wide
29 0.683 0.320 15 48465820 stop gained G/A snv 0.700 0
GELEOPHYSIC DYSPLASIA 2
CUI: C3280054
Disease: GELEOPHYSIC DYSPLASIA 2
27 0.683 0.320 15 48465820 stop gained G/A snv 0.700 0
MARFAN LIPODYSTROPHY SYNDROME
CUI: C4310796
Disease: MARFAN LIPODYSTROPHY SYNDROME
27 0.683 0.320 15 48465820 stop gained G/A snv 0.700 0
Congenital pectus carinatum
CUI: C0158731
Disease: Congenital pectus carinatum
26 0.683 0.320 15 48465820 stop gained G/A snv 0.700 0
Stiff Skin Syndrome
CUI: C1861456
Disease: Stiff Skin Syndrome
26 0.683 0.320 15 48465820 stop gained G/A snv 0.700 0
Thin upper lip vermilion
CUI: C1865017
Disease: Thin upper lip vermilion
25 0.683 0.320 15 48465820 stop gained G/A snv 0.700 0
ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT
CUI: C3541518
Disease: ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT
24 0.683 0.320 15 48465820 stop gained G/A snv 0.700 0
Weill-Marchesani Syndrome, Autosomal Dominant
CUI: C1869115
Disease: Weill-Marchesani Syndrome, Autosomal Dominant
23 0.683 0.320 15 48465820 stop gained G/A snv 0.700 0
Relative macrocephaly
CUI: C1849075
Disease: Relative macrocephaly
19 0.683 0.320 15 48465820 stop gained G/A snv 0.700 0
Umbilical hernia
CUI: C0019322
Disease: Umbilical hernia
17 0.683 0.320 15 48465820 stop gained G/A snv 0.700 0