Source: CURATED

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: rs114925667
rs114925667
UBA5 ; NPHP3-ACAD11
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.700 1.000 4 2016 2017
dbSNP: rs114925667
rs114925667
UBA5 ; NPHP3-ACAD11
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06
CUI: C4310700
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44 		0.800 1.000 2 2016 2016
dbSNP: rs114925667
rs114925667
UBA5 ; NPHP3-ACAD11
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06
CUI: C4025724
Disease: Abnormality of the cerebral ventricles
Abnormality of the cerebral ventricles 		0.700 0
dbSNP: rs114925667
rs114925667
UBA5 ; NPHP3-ACAD11
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06
CUI: C0006157
Disease: Breech Presentation
Breech Presentation 		0.700 0
dbSNP: rs114925667
rs114925667
UBA5 ; NPHP3-ACAD11
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06
CUI: C0269269
Disease: Inversion of nipple (disorder)
Inversion of nipple (disorder) 		0.700 0
dbSNP: rs114925667
rs114925667
UBA5 ; NPHP3-ACAD11
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06
CUI: C0019572
Disease: Hirsutism
Hirsutism 		0.700 0
dbSNP: rs114925667
rs114925667
UBA5 ; NPHP3-ACAD11
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06
CUI: C1456852
Disease: Ventouse delivery (finding)
Ventouse delivery (finding) 		0.700 0
dbSNP: rs114925667
rs114925667
UBA5 ; NPHP3-ACAD11
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06
CUI: C4072908
Disease: Induced vaginal delivery
Induced vaginal delivery 		0.700 0
dbSNP: rs114925667
rs114925667
UBA5 ; NPHP3-ACAD11
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06
CUI: C0454641
Disease: Expressive language delay
Expressive language delay 		0.700 0
dbSNP: rs114925667
rs114925667
UBA5 ; NPHP3-ACAD11
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs114925667
rs114925667
UBA5 ; NPHP3-ACAD11
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06
CUI: C0271385
Disease: Horizontal Nystagmus
Horizontal Nystagmus 		0.700 0
dbSNP: rs114925667
rs114925667
UBA5 ; NPHP3-ACAD11
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06
CUI: C0013595
Disease: Eczema
Eczema 		0.700 0
dbSNP: rs114925667
rs114925667
UBA5 ; NPHP3-ACAD11
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding) 		0.700 0
dbSNP: rs114925667
rs114925667
UBA5 ; NPHP3-ACAD11
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06
CUI: C1859347
Disease: Abnormal subcutaneous fat tissue distribution
Abnormal subcutaneous fat tissue distribution 		0.700 0
dbSNP: rs114925667
rs114925667
UBA5 ; NPHP3-ACAD11
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs114925667
rs114925667
UBA5 ; NPHP3-ACAD11
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06
CUI: C0015310
Disease: Exotropia
Exotropia 		0.700 0
dbSNP: rs114925667
rs114925667
UBA5 ; NPHP3-ACAD11
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		0.700 0
dbSNP: rs114925667
rs114925667
UBA5 ; NPHP3-ACAD11
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06
CUI: C1854882
Disease: Absent speech
Absent speech 		0.700 0
dbSNP: rs114925667
rs114925667
UBA5 ; NPHP3-ACAD11
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		0.700 0
dbSNP: rs114925667
rs114925667
UBA5 ; NPHP3-ACAD11
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06
CUI: C1845274
Disease: Abnormal conjugate eye movement
Abnormal conjugate eye movement 		0.700 0
dbSNP: rs114925667
rs114925667
UBA5 ; NPHP3-ACAD11
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		0.700 0
dbSNP: rs114925667
rs114925667
UBA5 ; NPHP3-ACAD11
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06
CUI: C3553450
Disease: Profound global developmental delay
Profound global developmental delay 		0.700 0
dbSNP: rs114925667
rs114925667
UBA5 ; NPHP3-ACAD11
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06
CUI: C0263401
Disease: Cutis marmorata
Cutis marmorata 		0.700 0
dbSNP: rs114925667
rs114925667
UBA5 ; NPHP3-ACAD11
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs114925667
rs114925667
UBA5 ; NPHP3-ACAD11
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06
CUI: C1839767
Disease: Tented upper lip vermilion
Tented upper lip vermilion 		0.700 0