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.
MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35
CUI: C4478383
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35
3 0.882 0.160 X 154399844 missense variant A/G snv 0.800 0
Autism Spectrum Disorders
CUI: C1510586
Disease: Autism Spectrum Disorders
331 0.882 0.160 X 154399844 missense variant A/G snv 0.010 1.000 1 2014 2014
Microcephaly
CUI: C0025958
Disease: Microcephaly
27 0.882 0.160 X 154399844 missense variant A/G snv 0.010 1.000 1 2018 2018
Seizures
CUI: C0036572
Disease: Seizures
553 0.882 0.160 X 154399844 missense variant A/G snv 0.010 1.000 1 2018 2018