rs386834061, VPS13B

N. diseases: 10
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.
Cohen syndrome
CUI: C0265223
Disease: Cohen syndrome
292 0.925 0.360 8 99868312 stop gained C/T snv 2.1E-05 0.700 1.000 3 2004 2015
Hypoplastic feet
CUI: C1848673
Disease: Hypoplastic feet
21 0.925 0.360 8 99868312 stop gained C/T snv 2.1E-05 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.925 0.360 8 99868312 stop gained C/T snv 2.1E-05 0.700 0
Neutrophil count decreased
CUI: C0853697
Disease: Neutrophil count decreased
5 0.925 0.360 8 99868312 stop gained C/T snv 2.1E-05 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.925 0.360 8 99868312 stop gained C/T snv 2.1E-05 0.700 0
Progressive visual loss
CUI: C1839364
Disease: Progressive visual loss
11 0.925 0.360 8 99868312 stop gained C/T snv 2.1E-05 0.700 0
Recurrent aphthous ulcer
CUI: C2937365
Disease: Recurrent aphthous ulcer
22 0.925 0.360 8 99868312 stop gained C/T snv 2.1E-05 0.700 0
Retinal Dystrophies
CUI: C0854723
Disease: Retinal Dystrophies
227 0.925 0.360 8 99868312 stop gained C/T snv 2.1E-05 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.925 0.360 8 99868312 stop gained C/T snv 2.1E-05 0.700 0
Small hand
CUI: C0575802
Disease: Small hand
31 0.925 0.360 8 99868312 stop gained C/T snv 2.1E-05 0.700 0