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: rs202247814
rs202247814 		1.000 0.080 13 100155090 missense variant G/A snv
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.820 1.000 6 1999 2014
dbSNP: rs141371306
rs141371306 		1.000 0.080 13 100111886 missense variant C/T snv 2.0E-05 5.6E-05
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 9 1999 2014
dbSNP: rs771438170
rs771438170 		1.000 0.080 13 100515529 missense variant G/A snv 1.2E-05
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 8 1999 2016
dbSNP: rs1443858896
rs1443858896 		1.000 0.080 13 100302982 missense variant C/T snv 8.0E-06
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 6 1999 2012
dbSNP: rs121964958
rs121964958 		1.000 0.080 13 100301512 missense variant T/A snv 4.0E-06 7.0E-06
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 4 1999 2004
dbSNP: rs202247815
rs202247815 		1.000 0.080 13 100209354 missense variant T/C snv 4.0E-06
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 4 1999 2004
dbSNP: rs573607437
rs573607437 		1.000 0.080 13 100273198 frameshift variant T/-;TT delins
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 6 2003 2018
dbSNP: rs138149179
rs138149179 		1.000 0.080 13 100273218 stop gained C/T snv 3.6E-05 2.8E-05
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 4 2012 2016
dbSNP: rs752761437
rs752761437 		1.000 0.080 13 100302999 splice donor variant G/A snv 3.6E-05; 4.0E-06 7.0E-05
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 4 2001 2017
dbSNP: rs972937270
rs972937270 		1.000 0.080 13 100111889 splice donor variant G/C snv 8.0E-06 1.4E-05
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 4 2006 2015
dbSNP: rs745571507
rs745571507 		1.000 0.080 13 100262733 frameshift variant G/- delins 3.2E-05 3.5E-05
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 3 2003 2008
dbSNP: rs796052018
rs796052018 		1.000 0.080 13 100449297 missense variant G/A;C snv 6.5E-05; 2.0E-05
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 3 1999 2016
dbSNP: rs1467680142
rs1467680142 		1.000 0.080 13 100301606 splice region variant A/G snv 4.0E-06
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 2006 2011
dbSNP: rs1555331314
rs1555331314 		1.000 0.080 13 100527737 frameshift variant T/- del
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 1994 2001
dbSNP: rs746286209
rs746286209 		1.000 0.080 13 100157285 splice acceptor variant A/C snv 8.0E-06
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 2012 2017
dbSNP: rs776281864
rs776281864 		1.000 0.080 13 100527673 splice acceptor variant A/G snv 7.6E-05 1.4E-05
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 2003 2004
dbSNP: rs781030239
rs781030239 		1.000 0.080 13 100089189 frameshift variant GCAGCTGATG/- del
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 2001 2016
dbSNP: rs879253806
rs879253806 		1.000 0.080 13 100301582 frameshift variant AATG/- delins
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 1999 2016
dbSNP: rs118169528
rs118169528 		1.000 0.080 13 100368504 missense variant G/T snv 3.0E-03 9.1E-04
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1194679272
rs1194679272 		1.000 0.080 13 100449261 stop gained C/T snv 1.3E-05
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2014 2014
dbSNP: rs1555361758
rs1555361758 		1.000 0.080 13 100157312 frameshift variant C/- del
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2001 2001
dbSNP: rs2184971
rs2184971 		1.000 13 100165838 intron variant A/G snv 0.49
CUI: C4025843
Disease: Abnormality of refraction
Abnormality of refraction 		0.700 1.000 1 2013 2013
dbSNP: rs2184971
rs2184971 		1.000 13 100165838 intron variant A/G snv 0.49
CUI: C0034951
Disease: Refractive Errors
Refractive Errors 		Eye Diseases 0.700 1.000 1 2013 2013
dbSNP: rs369982920
rs369982920 		1.000 0.080 13 100515567 splice region variant G/A snv 1.6E-05 7.0E-06
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2016 2016
dbSNP: rs3783177
rs3783177 		13 100499106 intron variant T/G snv 0.17
CUI: C0037369
Disease: Smoking
Smoking 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019