NFU1, NFU1 iron-sulfur cluster scaffold, 27247

N. diseases: 25; N. variants: 8
Disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs374514431
rs374514431 		0.925 0.040 2 69400462 missense variant C/A snv 1.5E-04 1.2E-04
CUI: C3276432
Disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 		0.810 1.000 1 2017 2017
dbSNP: rs1354126704
rs1354126704 		1.000 2 69406023 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C3276432
Disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 		0.800 1.000 5 2011 2017
dbSNP: rs776875884
rs776875884 		1.000 2 69437361 missense variant C/G snv
CUI: C3276432
Disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 		0.700 1.000 5 2011 2017
dbSNP: rs756085990
rs756085990 		1.000 2 69406017 splice region variant C/T snv 1.6E-05 7.0E-06
CUI: C3276432
Disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 		0.700 0