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: rs753242774
rs753242774
0.882 0.120 3 47848237 missense variant C/A;T snv
NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE
0.800 1.000 1 2017 2017
dbSNP: rs1057519436
rs1057519436
0.882 0.200 3 47846550 missense variant G/A snv
NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE
0.800 0
dbSNP: rs1060499733
rs1060499733
0.851 0.120 3 47846757 missense variant A/G snv
NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE
0.800 1.000 0 2017 2017
dbSNP: rs1085307451
rs1085307451
0.925 0.160 3 47848246 missense variant C/T snv
NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE
0.800 1.000 0 2017 2017
dbSNP: rs1553706775
rs1553706775
1.000 3 47848235 missense variant G/A snv
NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE
0.800 1.000 0 2017 2017
dbSNP: rs1553706799
rs1553706799
1.000 3 47848247 missense variant G/A snv
NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE
0.800 1.000 0 2017 2017
dbSNP: rs1057519436
rs1057519436
0.882 0.200 3 47846550 missense variant G/A snv
CUI: C0038379
Disease: Strabismus
Strabismus
0.700 0
dbSNP: rs1057519436
rs1057519436
0.882 0.200 3 47846550 missense variant G/A snv
CUI: C0231686
Disease: Gait, Unsteady
Gait, Unsteady
0.700 0
dbSNP: rs1057519436
rs1057519436
0.882 0.200 3 47846550 missense variant G/A snv
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs1057519436
rs1057519436
0.882 0.200 3 47846550 missense variant G/A snv
CUI: C3489733
Disease: Oculomotor apraxia
Oculomotor apraxia
0.700 0
dbSNP: rs1057519436
rs1057519436
0.882 0.200 3 47846550 missense variant G/A snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
0.700 0
dbSNP: rs1057519436
rs1057519436
0.882 0.200 3 47846550 missense variant G/A snv
CUI: C0036572
Disease: Seizures
Seizures
0.700 0
dbSNP: rs1060499733
rs1060499733
0.851 0.120 3 47846757 missense variant A/G snv
CUI: C1384666
Disease: hearing impairment
hearing impairment
0.700 0
dbSNP: rs1060499733
rs1060499733
0.851 0.120 3 47846757 missense variant A/G snv
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.700 0
dbSNP: rs1060499733
rs1060499733
0.851 0.120 3 47846757 missense variant A/G snv
CUI: C0948163
Disease: Leukoaraiosis
Leukoaraiosis
0.700 0
dbSNP: rs1060499733
rs1060499733
0.851 0.120 3 47846757 missense variant A/G snv
CUI: C0038379
Disease: Strabismus
Strabismus
0.700 0
dbSNP: rs1060499733
rs1060499733
0.851 0.120 3 47846757 missense variant A/G snv
Delayed speech and language development
0.700 0
dbSNP: rs1060499733
rs1060499733
0.851 0.120 3 47846757 missense variant A/G snv
CUI: C1843367
Disease: Poor school performance
Poor school performance
0.700 0
dbSNP: rs1060499733
rs1060499733
0.851 0.120 3 47846757 missense variant A/G snv
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances
0.700 0
dbSNP: rs1060499733
rs1060499733
0.851 0.120 3 47846757 missense variant A/G snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.700 0
dbSNP: rs1060499733
rs1060499733
0.851 0.120 3 47846757 missense variant A/G snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
0.700 0
dbSNP: rs1060499733
rs1060499733
0.851 0.120 3 47846757 missense variant A/G snv
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk
0.700 0
dbSNP: rs1085307451
rs1085307451
0.925 0.160 3 47848246 missense variant C/T snv
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability
0.700 0
dbSNP: rs1085307451
rs1085307451
0.925 0.160 3 47848246 missense variant C/T snv
Delayed speech and language development
0.700 0
dbSNP: rs1085307451
rs1085307451
0.925 0.160 3 47848246 missense variant C/T snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
0.700 0