rs1064796738, KIF11

N. diseases: 5
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.
Lymphedema, microcephaly and chorioretinopathy syndrome
CUI: C1835265
Disease: Lymphedema, microcephaly and chorioretinopathy syndrome
23 1.000 0.240 10 92606655 stop gained C/T snv 0.700 1.000 2 2014 2014
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 1.000 0.240 10 92606655 stop gained C/T snv 0.700 1.000 2 2014 2014
Narrow forehead
CUI: C1839758
Disease: Narrow forehead
20 1.000 0.240 10 92606655 stop gained C/T snv 0.700 1.000 2 2014 2014
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 1.000 0.240 10 92606655 stop gained C/T snv 0.700 1.000 2 2014 2014
Sloping forehead
CUI: C1857679
Disease: Sloping forehead
5 1.000 0.240 10 92606655 stop gained C/T snv 0.700 1.000 2 2014 2014