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: rs1057519436
rs1057519436
0.878 0.179 3 47846550 missense variant G/A snp
NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE
0.700 0
dbSNP: rs1057519436
rs1057519436
0.878 0.179 3 47846550 missense variant G/A snp
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs1057519436
rs1057519436
0.878 0.179 3 47846550 missense variant G/A snp
CUI: C0231686
Disease: Gait, Unsteady
Gait, Unsteady
0.700 0
dbSNP: rs1057519436
rs1057519436
0.878 0.179 3 47846550 missense variant G/A snp
CUI: C0424688
Disease: Small head
Small head
0.700 0
dbSNP: rs1057519436
rs1057519436
0.878 0.179 3 47846550 missense variant G/A snp
CUI: C0036572
Disease: Seizures
Seizures
0.700 0
dbSNP: rs1057519436
rs1057519436
0.878 0.179 3 47846550 missense variant G/A snp
CUI: C3489733
Disease: Oculomotor apraxia
Oculomotor apraxia
0.700 0
dbSNP: rs1057519436
rs1057519436
0.878 0.179 3 47846550 missense variant G/A snp
CUI: C0038379
Disease: Strabismus
Strabismus
0.700 0