rs1057519443, MPP4

N. diseases: 7
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.
Byzanthine arch palate
CUI: C0240635
Disease: Byzanthine arch palate
70 0.882 0.200 2 201675255 missense variant A/G snv 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.882 0.200 2 201675255 missense variant A/G snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.882 0.200 2 201675255 missense variant A/G snv 0.700 0
Nasal bridge wide
CUI: C1849367
Disease: Nasal bridge wide
29 0.882 0.200 2 201675255 missense variant A/G snv 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.882 0.200 2 201675255 missense variant A/G snv 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.882 0.200 2 201675255 missense variant A/G snv 0.700 0
Strabismus
CUI: C0038379
Disease: Strabismus
89 0.882 0.200 2 201675255 missense variant A/G snv 0.700 0