Source: BEFREE

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 2 1999 2014
dbSNP: rs202247822
rs202247822
PCCB
1.000 0.080 3 136329962 missense variant T/C snv 4.0E-06 7.0E-06
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		0.810 1.000 1 1990 2005
dbSNP: rs778742647
rs778742647
PCCB
1.000 0.080 3 136327185 missense variant G/A snv 3.2E-05 3.5E-05
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		0.710 1.000 1 1993 2014
dbSNP: rs1286896479
rs1286896479
PCCB
1.000 0.080 3 136329959 frameshift variant -/CC delins
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		0.010 1.000 1 1999 1999
dbSNP: rs750840362
rs750840362
PCCA
1.000 0.080 13 100273236 missense variant C/G snv 6.8E-05 4.9E-05
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		0.010 1.000 1 2004 2004
dbSNP: rs774738181
rs774738181
PCCA
1.000 0.080 13 100262814 missense variant C/T snv 3.2E-05 2.8E-05
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		0.010 1.000 1 2018 2018