rs1443187318, AEBP1

N. diseases: 14
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.
Atypical scarring of skin
CUI: C4021786
Disease: Atypical scarring of skin
1 0.882 0.080 7 44108060 stop gained -/A delins 1.3E-05 0.700 0
EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2
5 0.882 0.080 7 44108060 stop gained -/A delins 1.3E-05 0.700 0
Hyperextensible skin
CUI: C0241074
Disease: Hyperextensible skin
11 0.882 0.080 7 44108060 stop gained -/A delins 1.3E-05 0.700 0
Increased tendency to bruise
CUI: C0423798
Disease: Increased tendency to bruise
14 0.882 0.080 7 44108060 stop gained -/A delins 1.3E-05 0.700 0
Kyphoscoliosis deformity of spine
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
17 0.882 0.080 7 44108060 stop gained -/A delins 1.3E-05 0.700 0
Mitral Valve Prolapse Syndrome
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
29 0.882 0.080 7 44108060 stop gained -/A delins 1.3E-05 0.700 0
Poor wound healing
CUI: C1851789
Disease: Poor wound healing
3 0.882 0.080 7 44108060 stop gained -/A delins 1.3E-05 0.700 0
Prematurely aged appearance
CUI: C1857656
Disease: Prematurely aged appearance
1 0.882 0.080 7 44108060 stop gained -/A delins 1.3E-05 0.700 0
Prominent superficial veins
CUI: C1837785
Disease: Prominent superficial veins
3 0.882 0.080 7 44108060 stop gained -/A delins 1.3E-05 0.700 0
Range of joint movement increased
CUI: C1844820
Disease: Range of joint movement increased
46 0.882 0.080 7 44108060 stop gained -/A delins 1.3E-05 0.700 0
Redundant skin
CUI: C0581342
Disease: Redundant skin
2 0.882 0.080 7 44108060 stop gained -/A delins 1.3E-05 0.700 0
Structural foot deformity
CUI: C4023965
Disease: Structural foot deformity
1 0.882 0.080 7 44108060 stop gained -/A delins 1.3E-05 0.700 0
Umbilical hernia
CUI: C0019322
Disease: Umbilical hernia
17 0.882 0.080 7 44108060 stop gained -/A delins 1.3E-05 0.700 0
Connective Tissue Diseases
CUI: C0009782
Disease: Connective Tissue Diseases
24 0.882 0.080 7 44108060 stop gained -/A delins 1.3E-05 0.010 1.000 1 2019 2019