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: rs1485032272
rs1485032272
NDUFS1
1.000 0.040 2 206144919 missense variant T/A;C snv 4.0E-06
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.700 0
dbSNP: rs750971390
rs750971390
NDUFS1
1.000 0.040 2 206152508 stop gained G/A snv 3.2E-05 7.0E-06
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.700 0