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
1.000 3 47848237 missense variant C/A,T snp
NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE
0.700 1 2017 2017
dbSNP: rs753242774
rs753242774
1.000 3 47848237 missense variant C/A,T snp
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs753242774
rs753242774
1.000 3 47848237 missense variant C/A,T snp
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
0.700 0
dbSNP: rs753242774
rs753242774
1.000 3 47848237 missense variant C/A,T snp
CUI: C0231246
Disease: Failure to gain weight
Failure to gain weight
0.700 0
dbSNP: rs753242774
rs753242774
1.000 3 47848237 missense variant C/A,T snp
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
0.700 0
dbSNP: rs753242774
rs753242774
1.000 3 47848237 missense variant C/A,T snp
CUI: C0424688
Disease: Small head
Small head
0.700 0
dbSNP: rs753242774
rs753242774
1.000 3 47848237 missense variant C/A,T snp
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal
0.700 0
dbSNP: rs753242774
rs753242774
1.000 3 47848237 missense variant C/A,T snp
CUI: C1843367
Disease: Poor school performance
Poor school performance
0.700 0
dbSNP: rs753242774
rs753242774
1.000 3 47848237 missense variant C/A,T snp
CUI: C0019572
Disease: Hirsutism
Hirsutism
0.700 0