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: rs202247814
rs202247814
PCCA
1.000 0.080 13 100155090 missense variant G/A snv
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		0.820 1.000 4 1999 2014
dbSNP: rs121964958
rs121964958
PCCA
1.000 0.080 13 100301512 missense variant T/A snv 4.0E-06 7.0E-06
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		0.800 1.000 4 1999 2004
dbSNP: rs141371306
rs141371306
PCCA
1.000 0.080 13 100111886 missense variant C/T snv 2.0E-05 5.6E-05
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		0.800 1.000 4 1999 2014
dbSNP: rs1443858896
rs1443858896
PCCA
1.000 0.080 13 100302982 missense variant C/T snv 8.0E-06
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		0.800 1.000 4 1999 2012
dbSNP: rs202247815
rs202247815
PCCA
1.000 0.080 13 100209354 missense variant T/C snv 4.0E-06
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		0.800 1.000 4 1999 2004
dbSNP: rs771438170
rs771438170
PCCA
1.000 0.080 13 100515529 missense variant G/A snv 1.2E-05
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		0.800 1.000 4 1999 2016
dbSNP: rs1301904623
rs1301904623
PCCA
1.000 0.080 13 100301590 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		0.700 0
dbSNP: rs375628794
rs375628794
PCCA
1.000 0.080 13 100257643 missense variant T/A;C snv
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		0.700 0
dbSNP: rs794727087
rs794727087
PCCA
1.000 0.080 13 100301530 missense variant G/T snv
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		0.700 0