rs886040857, EIF2S3

N. diseases: 7
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Diabetes Mellitus
CUI: C0011849
Disease: Diabetes Mellitus
824 0.882 0.240 X 24076757 frameshift variant TCAA/- delins 0.700 0
Hypogonadism
CUI: C0020619
Disease: Hypogonadism
24 0.882 0.240 X 24076757 frameshift variant TCAA/- delins 0.700 0
MENTAL RETARDATION, EPILEPTIC SEIZURES, HYPOGONADISM AND HYPOGENITALISM, MICROCEPHALY, AND OBESITY (disorder)
CUI: C1846278
Disease: MENTAL RETARDATION, EPILEPTIC SEIZURES, HYPOGONADISM AND HYPOGENITALISM, MICROCEPHALY, AND OBESITY (disorder)
5 0.882 0.240 X 24076757 frameshift variant TCAA/- delins 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.882 0.240 X 24076757 frameshift variant TCAA/- delins 0.700 0
Obesity
CUI: C0028754
Disease: Obesity
1111 0.882 0.240 X 24076757 frameshift variant TCAA/- delins 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.882 0.240 X 24076757 frameshift variant TCAA/- delins 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.882 0.240 X 24076757 frameshift variant TCAA/- delins 0.700 0