rs201430951, NUBPL

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.
MITOCHONDRIAL COMPLEX I DEFICIENCY
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
31 0.925 0.040 14 31599308 missense variant T/C snv 1.5E-04 5.6E-05 0.700 1.000 1 2016 2016
Abnormality of the liver
CUI: C4021780
Disease: Abnormality of the liver
8 0.925 0.040 14 31599308 missense variant T/C snv 1.5E-04 5.6E-05 0.700 0
Leukoencephalopathy
CUI: C0270612
Disease: Leukoencephalopathy
17 0.925 0.040 14 31599308 missense variant T/C snv 1.5E-04 5.6E-05 0.700 0
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21
CUI: C4748792
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21
5 0.925 0.040 14 31599308 missense variant T/C snv 1.5E-04 5.6E-05 0.700 0
Neurodevelopmental delay
CUI: C4022738
Disease: Neurodevelopmental delay
24 0.925 0.040 14 31599308 missense variant T/C snv 1.5E-04 5.6E-05 0.700 0
Renal tubular acidosis
CUI: C0001126
Disease: Renal tubular acidosis
3 0.925 0.040 14 31599308 missense variant T/C snv 1.5E-04 5.6E-05 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.925 0.040 14 31599308 missense variant T/C snv 1.5E-04 5.6E-05 0.700 0