PRDX1, peroxiredoxin 1, 5052

N. diseases: 237; N. variants: 3
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: rs4660306
rs4660306 		1 45513003 3 prime UTR variant T/A;C snv
CUI: C2242817
Disease: Homocysteine measurement
Homocysteine measurement 		0.800 1.000 1 2013 2013
dbSNP: rs1379672870
rs1379672870 		1.000 1 45511416 splice acceptor variant T/A;C snv 4.0E-06 7.0E-06
CUI: C4693974
Disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC 		0.700 0
dbSNP: rs751828470
rs751828470 		1.000 1 45511415 splice acceptor variant C/A snv 4.0E-05
CUI: C4693974
Disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC 		0.700 0