Source: UNIPROT

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: rs104894884
rs104894884
NDUFA1 ; RNF113A
0.882 0.040 X 119871933 missense variant G/C snv
CUI: C4746984
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12 		0.800 1.000 1 2007 2007
dbSNP: rs104894885
rs104894885
NDUFA1 ; RNF113A
0.851 0.120 X 119873312 missense variant G/A;C snv
CUI: C4746984
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12 		0.800 1.000 1 2007 2007
dbSNP: rs1257734702
rs1257734702
NDUFA1 ; RNF113A
1.000 0.080 X 119873358 missense variant C/T snv 9.6E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.700 0