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: rs886040857
rs886040857
EIF2S3
0.882 0.240 X 24076757 frameshift variant TCAA/- delins
CUI: C1846278
Disease: MENTAL RETARDATION, EPILEPTIC SEIZURES, HYPOGONADISM AND HYPOGENITALISM, MICROCEPHALY, AND OBESITY (disorder)
MENTAL RETARDATION, EPILEPTIC SEIZURES, HYPOGONADISM AND HYPOGENITALISM, MICROCEPHALY, AND OBESITY (disorder) 		0.700 0
dbSNP: rs886040857
rs886040857
EIF2S3
0.882 0.240 X 24076757 frameshift variant TCAA/- delins
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs886040857
rs886040857
EIF2S3
0.882 0.240 X 24076757 frameshift variant TCAA/- delins
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.700 0
dbSNP: rs886040857
rs886040857
EIF2S3
0.882 0.240 X 24076757 frameshift variant TCAA/- delins
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs886040857
rs886040857
EIF2S3
0.882 0.240 X 24076757 frameshift variant TCAA/- delins
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs886040857
rs886040857
EIF2S3
0.882 0.240 X 24076757 frameshift variant TCAA/- delins
CUI: C0020619
Disease: Hypogonadism
Hypogonadism 		0.700 0
dbSNP: rs886040857
rs886040857
EIF2S3
0.882 0.240 X 24076757 frameshift variant TCAA/- delins
CUI: C0028754
Disease: Obesity
Obesity 		0.700 0