rs1131691804, FBN1

N. diseases: 8
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.
Geleophysic dysplasia
CUI: C3489726
Disease: Geleophysic dysplasia
7 0.807 0.200 15 48463123 missense variant G/A snv 0.700 1.000 2 2011 2016
Macrostomia
CUI: C0024433
Disease: Macrostomia
11 0.807 0.200 15 48463123 missense variant G/A snv 0.700 0
Metaphyseal chondrodysplasia
CUI: C0265290
Disease: Metaphyseal chondrodysplasia
3 0.807 0.200 15 48463123 missense variant G/A snv 0.700 0
Nasal bridge wide
CUI: C1849367
Disease: Nasal bridge wide
29 0.807 0.200 15 48463123 missense variant G/A snv 0.700 0
Relative macrocephaly
CUI: C1849075
Disease: Relative macrocephaly
19 0.807 0.200 15 48463123 missense variant G/A snv 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.807 0.200 15 48463123 missense variant G/A snv 0.700 0
Acromicric Dysplasia
CUI: C0265287
Disease: Acromicric Dysplasia
31 0.807 0.200 15 48463123 missense variant G/A snv 0.010 1.000 1 2016 2016
Dwarfism
CUI: C0013336
Disease: Dwarfism
77 0.807 0.200 15 48463123 missense variant G/A snv 0.010 1.000 1 2016 2016