rs587776917, ECEL1

N. diseases: 13
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.
Distal arthrogryposis type 5D
CUI: C3554415
Disease: Distal arthrogryposis type 5D
20 0.776 0.200 2 232485937 stop gained -/T delins 0.700 1.000 1 2013 2013
Adducted thumb
CUI: C3554617
Disease: Adducted thumb
5 0.776 0.200 2 232485937 stop gained -/T delins 0.700 0
Astigmatism
CUI: C0004106
Disease: Astigmatism
45 0.776 0.200 2 232485937 stop gained -/T delins 0.700 0
Blepharoptosis
CUI: C0005745
Disease: Blepharoptosis
57 0.776 0.200 2 232485937 stop gained -/T delins 0.700 0
Brachydactyly
CUI: C0221357
Disease: Brachydactyly
43 0.776 0.200 2 232485937 stop gained -/T delins 0.700 0
Byzanthine arch palate
CUI: C0240635
Disease: Byzanthine arch palate
70 0.776 0.200 2 232485937 stop gained -/T delins 0.700 0
Congenital Camptodactyly
CUI: C0685409
Disease: Congenital Camptodactyly
10 0.776 0.200 2 232485937 stop gained -/T delins 0.700 0
Downward slant of palpebral fissure
CUI: C0423110
Disease: Downward slant of palpebral fissure
49 0.776 0.200 2 232485937 stop gained -/T delins 0.700 0
Facial asymmetry
CUI: C1306710
Disease: Facial asymmetry
13 0.776 0.200 2 232485937 stop gained -/T delins 0.700 0
Fissured tongue
CUI: C0040412
Disease: Fissured tongue
1 0.776 0.200 2 232485937 stop gained -/T delins 0.700 0
Prominent nasal tip
CUI: C1856118
Disease: Prominent nasal tip
4 0.776 0.200 2 232485937 stop gained -/T delins 0.700 0
Scoliosis, unspecified
CUI: C0036439
Disease: Scoliosis, unspecified
135 0.776 0.200 2 232485937 stop gained -/T delins 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.776 0.200 2 232485937 stop gained -/T delins 0.700 0