rs121918364, SRPX2

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.
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked
CUI: C1845070
Disease: Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked
3 0.851 0.200 X 100662227 missense variant A/C snv 3.3E-05 2.9E-05 0.800 1.000 1 2006 2006
Intellectual Disability
CUI: C3714756
Disease: Intellectual Disability
159 0.851 0.200 X 100662227 missense variant A/C snv 3.3E-05 2.9E-05 0.010 1.000 1 2006 2006
Mental Retardation
CUI: C0025362
Disease: Mental Retardation
98 0.851 0.200 X 100662227 missense variant A/C snv 3.3E-05 2.9E-05 0.010 1.000 1 2006 2006
Perisylvian syndrome
CUI: C1845668
Disease: Perisylvian syndrome
5 0.851 0.200 X 100662227 missense variant A/C snv 3.3E-05 2.9E-05 0.010 1.000 1 2006 2006
Polymicrogyria
CUI: C0266464
Disease: Polymicrogyria
29 0.851 0.200 X 100662227 missense variant A/C snv 3.3E-05 2.9E-05 0.010 1.000 1 2008 2008