rs386834070, 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.
Attention deficit hyperactivity disorder
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
420 0.851 0.360 8 99134644 stop gained C/T snv 0.700 0
Cohen syndrome
CUI: C0265223
Disease: Cohen syndrome
292 0.851 0.360 8 99134644 stop gained C/T snv 0.700 0
Dental caries
CUI: C0011334
Disease: Dental caries
126 0.851 0.360 8 99134644 stop gained C/T snv 0.700 0
Gait, Unsteady
CUI: C0231686
Disease: Gait, Unsteady
14 0.851 0.360 8 99134644 stop gained C/T snv 0.700 0
Generalized joint laxity
CUI: C1836308
Disease: Generalized joint laxity
6 0.851 0.360 8 99134644 stop gained C/T snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.851 0.360 8 99134644 stop gained C/T snv 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.851 0.360 8 99134644 stop gained C/T snv 0.700 0
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.851 0.360 8 99134644 stop gained C/T snv 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.851 0.360 8 99134644 stop gained C/T snv 0.700 0