rs1057518939, VPS13B

N. diseases: 9
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.
Hypoplastic feet
CUI: C1848673
Disease: Hypoplastic feet
21 1.000 0.040 8 99511424 frameshift variant A/- del 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 1.000 0.040 8 99511424 frameshift variant A/- del 0.700 0
Neutrophil count decreased
CUI: C0853697
Disease: Neutrophil count decreased
5 1.000 0.040 8 99511424 frameshift variant A/- del 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 1.000 0.040 8 99511424 frameshift variant A/- del 0.700 0
Progressive visual loss
CUI: C1839364
Disease: Progressive visual loss
11 1.000 0.040 8 99511424 frameshift variant A/- del 0.700 0
Recurrent aphthous ulcer
CUI: C2937365
Disease: Recurrent aphthous ulcer
22 1.000 0.040 8 99511424 frameshift variant A/- del 0.700 0
Retinal Dystrophies
CUI: C0854723
Disease: Retinal Dystrophies
227 1.000 0.040 8 99511424 frameshift variant A/- del 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 1.000 0.040 8 99511424 frameshift variant A/- del 0.700 0
Small hand
CUI: C0575802
Disease: Small hand
31 1.000 0.040 8 99511424 frameshift variant A/- del 0.700 0