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: rs267606830
rs267606830
FOXRED1
1.000 11 126277517 missense variant A/C;G snv 4.0E-06
CUI: C4748791
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 		0.800 1.000 3 2010 2015
dbSNP: rs387907087
rs387907087
FOXRED1
0.925 11 126276476 missense variant C/T snv 2.4E-05 1.4E-05
CUI: C4748791
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 		0.800 1.000 3 2010 2015
dbSNP: rs387907087
rs387907087
FOXRED1
0.925 11 126276476 missense variant C/T snv 2.4E-05 1.4E-05
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 4 2010 2016
dbSNP: rs398124308
rs398124308
FOXRED1
0.925 0.120 11 126275000 frameshift variant -/AGTG delins
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.700 1.000 1 2012 2012
dbSNP: rs267606829
rs267606829
FOXRED1
1.000 11 126275389 stop gained C/T snv 1.2E-05 3.5E-05
CUI: C4748791
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 		0.700 0
dbSNP: rs373075574
rs373075574
FOXRED1
1.000 0.040 11 126273068 missense variant C/T snv 2.4E-05 7.0E-06
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.700 0
dbSNP: rs398124308
rs398124308
FOXRED1
0.925 0.120 11 126275000 frameshift variant -/AGTG delins
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.700 0
dbSNP: rs536400690
rs536400690
FOXRED1
1.000 0.040 11 126275327 missense variant G/C snv 2.6E-04 7.0E-05
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.700 0