rs876661308, MEF2C

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.
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
CUI: C3150700
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
15 1.000 5 88823780 missense variant T/A snv 0.700 1.000 1 2016 2016
Poor eye contact
CUI: C1445953
Disease: Poor eye contact
6 1.000 5 88823780 missense variant T/A snv 0.700 1.000 1 2016 2016
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 1.000 5 88823780 missense variant T/A snv 0.700 1.000 1 2016 2016
Seizures
CUI: C0036572
Disease: Seizures
553 1.000 5 88823780 missense variant T/A snv 0.700 1.000 1 2016 2016