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
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
0.700 0
dbSNP: rs753242774
rs753242774
0.882 0.120 3 47848237 missense variant C/A;T snv
CUI: C1843367
Disease: Poor school performance
Poor school performance
0.700 0
dbSNP: rs753242774
rs753242774
0.882 0.120 3 47848237 missense variant C/A;T snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
0.700 0
dbSNP: rs753242774
rs753242774
0.882 0.120 3 47848237 missense variant C/A;T snv
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
0.700 0
dbSNP: rs753242774
rs753242774
0.882 0.120 3 47848237 missense variant C/A;T snv
CUI: C0019572
Disease: Hirsutism
Hirsutism
0.700 0
dbSNP: rs753242774
rs753242774
0.882 0.120 3 47848237 missense variant C/A;T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.700 0
dbSNP: rs753242774
rs753242774
0.882 0.120 3 47848237 missense variant C/A;T snv
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal
0.700 0
dbSNP: rs753242774
rs753242774
0.882 0.120 3 47848237 missense variant C/A;T snv
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
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