rs374514431, NFU1

N. diseases: 2
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.
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1
CUI: C3276432
Disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1
4 0.925 0.040 2 69400462 missense variant C/A snv 1.5E-04 1.2E-04 0.810 1.000 1 2017 2017
Idiopathic pulmonary arterial hypertension
CUI: C3203102
Disease: Idiopathic pulmonary arterial hypertension
24 0.925 0.040 2 69400462 missense variant C/A snv 1.5E-04 1.2E-04 0.010 1.000 1 2020 2020