rs1057521721, GRIA3

N. diseases: 5
Source: CLINVAR ×
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.
Gross motor development delay
CUI: C1837658
Disease: Gross motor development delay
59 0.851 0.200 X 123428020 missense variant G/A snv 0.700 1.000 1 2017 2017
Profound global developmental delay
CUI: C3553450
Disease: Profound global developmental delay
19 0.851 0.200 X 123428020 missense variant G/A snv 0.700 1.000 1 2017 2017
Severe intellectual disability
CUI: C0036857
Disease: Severe intellectual disability
62 0.851 0.200 X 123428020 missense variant G/A snv 0.700 1.000 1 2017 2017
Sleep disturbances
CUI: C0037317
Disease: Sleep disturbances
41 0.851 0.200 X 123428020 missense variant G/A snv 0.700 1.000 1 2017 2017
MENTAL RETARDATION, X-LINKED 94 (disorder)
CUI: C2678051
Disease: MENTAL RETARDATION, X-LINKED 94 (disorder)
6 0.851 0.200 X 123428020 missense variant G/A snv 0.700 0