rs386834055, 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.
Cohen syndrome
CUI: C0265223
Disease: Cohen syndrome
292 0.925 0.320 8 99853469 frameshift variant -/A delins 0.700 1.000 2 2012 2016
Constipation
CUI: C0009806
Disease: Constipation
57 0.925 0.320 8 99853469 frameshift variant -/A delins 0.700 0
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
192 0.925 0.320 8 99853469 frameshift variant -/A delins 0.700 0
Large nose
CUI: C0426415
Disease: Large nose
7 0.925 0.320 8 99853469 frameshift variant -/A delins 0.700 0
Low Vision
CUI: C0042798
Disease: Low Vision
51 0.925 0.320 8 99853469 frameshift variant -/A delins 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.925 0.320 8 99853469 frameshift variant -/A delins 0.700 0
Motor delay
CUI: C1854301
Disease: Motor delay
34 0.925 0.320 8 99853469 frameshift variant -/A delins 0.700 0
Poor head control
CUI: C1836038
Disease: Poor head control
13 0.925 0.320 8 99853469 frameshift variant -/A delins 0.700 0
Short philtrum
CUI: C1861324
Disease: Short philtrum
25 0.925 0.320 8 99853469 frameshift variant -/A delins 0.700 0