Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057519443
rs1057519443
MPP4
0.882 0.200 2 201675255 missense variant A/G snv
CUI: C0038379
Disease: Strabismus
Strabismus 		0.700 0
dbSNP: rs1057519443
rs1057519443
MPP4
0.882 0.200 2 201675255 missense variant A/G snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1057519443
rs1057519443
MPP4
0.882 0.200 2 201675255 missense variant A/G snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1057519443
rs1057519443
MPP4
0.882 0.200 2 201675255 missense variant A/G snv
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		0.700 0
dbSNP: rs1057519443
rs1057519443
MPP4
0.882 0.200 2 201675255 missense variant A/G snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs1057519443
rs1057519443
MPP4
0.882 0.200 2 201675255 missense variant A/G snv
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.700 0
dbSNP: rs1057519443
rs1057519443
MPP4
0.882 0.200 2 201675255 missense variant A/G snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0