rs1554781700, COL5A1

N. diseases: 12
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.
Abnormally lax or hyperextensible skin
CUI: C4024736
Disease: Abnormally lax or hyperextensible skin
53 0.851 0.240 9 134701287 missense variant G/T snv 0.700 0
Acid reflux
CUI: C4317146
Disease: Acid reflux
58 0.851 0.240 9 134701287 missense variant G/T snv 0.700 0
Cataract
CUI: C0086543
Disease: Cataract
124 0.851 0.240 9 134701287 missense variant G/T snv 0.700 0
Constrictive median neuropathy
CUI: C4023009
Disease: Constrictive median neuropathy
1 0.851 0.240 9 134701287 missense variant G/T snv 0.700 0
Difficulty walking
CUI: C0311394
Disease: Difficulty walking
30 0.851 0.240 9 134701287 missense variant G/T snv 0.700 0
Hernia, Inguinal
CUI: C0019294
Disease: Hernia, Inguinal
21 0.851 0.240 9 134701287 missense variant G/T snv 0.700 0
Hip Dislocation, Congenital
CUI: C0019555
Disease: Hip Dislocation, Congenital
3 0.851 0.240 9 134701287 missense variant G/T snv 0.700 0
Increased tendency to bruise
CUI: C0423798
Disease: Increased tendency to bruise
14 0.851 0.240 9 134701287 missense variant G/T snv 0.700 0
Mitral Valve Prolapse Syndrome
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
29 0.851 0.240 9 134701287 missense variant G/T snv 0.700 0
Pain
CUI: C0030193
Disease: Pain
196 0.851 0.240 9 134701287 missense variant G/T snv 0.700 0
Pneumothorax
CUI: C0032326
Disease: Pneumothorax
3 0.851 0.240 9 134701287 missense variant G/T snv 0.700 0
Soft skin
CUI: C1844592
Disease: Soft skin
3 0.851 0.240 9 134701287 missense variant G/T snv 0.700 0