rs137852520, L1CAM

N. diseases: 4
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.
X-linked hydrocephalus syndrome
CUI: C0265216
Disease: X-linked hydrocephalus syndrome
24 0.851 0.200 X 153868866 missense variant C/T snv 0.800 1.000 20 1993 2013
Spastic Paraplegia
CUI: C0037772
Disease: Spastic Paraplegia
93 0.851 0.200 X 153868866 missense variant C/T snv 0.700 1.000 3 1994 2002
Hydrocephalus
CUI: C0020255
Disease: Hydrocephalus
37 0.851 0.200 X 153868866 missense variant C/T snv 0.010 1.000 1 2019 2019
MASA SYNDROME (disorder)
CUI: C0795953
Disease: MASA SYNDROME (disorder)
13 0.851 0.200 X 153868866 missense variant C/T snv 0.010 1.000 1 2019 2019