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
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: rs202247822
rs202247822
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 9 1990 2005
dbSNP: rs111033542
rs111033542
1.000 0.080 3 136327239 missense variant C/T snv 2.4E-05 7.0E-06
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia
0.800 1.000 9 1990 2005
dbSNP: rs121964959
rs121964959
1.000 0.080 3 136327184 missense variant C/A;T snv 2.8E-05
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia
0.800 1.000 9 1990 2012
dbSNP: rs121964960
rs121964960
1.000 0.080 3 136262024 missense variant G/A snv 6.0E-06 7.0E-06
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia
0.800 1.000 9 1990 2005
dbSNP: rs121964961
rs121964961
1.000 0.080 3 136327638 missense variant A/G;T snv 6.4E-05; 4.0E-06
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia
0.800 1.000 9 1990 2014
dbSNP: rs186710233
rs186710233
1.000 0.080 3 136329940 missense variant C/A;T snv 4.0E-06; 8.0E-06
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia
0.800 1.000 9 1990 2012
dbSNP: rs202247818
rs202247818
1.000 0.080 3 136256586 missense variant G/A snv
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia
0.800 1.000 9 1990 2005
dbSNP: rs202247819
rs202247819
1.000 0.080 3 136261979 missense variant G/C snv
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia
0.800 1.000 9 1990 2005
dbSNP: rs202247823
rs202247823
1.000 0.080 3 136330012 missense variant A/G snv 2.0E-05 1.6E-04
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia
0.800 1.000 9 1990 2016
dbSNP: rs879253815
rs879253815
1.000 0.080 3 136262015 missense variant C/T snv 5.9E-06 1.4E-05
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia
0.800 1.000 9 1990 2016
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
0.800 1.000 4 1999 2004
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
0.800 1.000 4 1999 2014
dbSNP: rs1443858896
rs1443858896
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
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
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: rs1553774114
rs1553774114
1.000 0.080 3 136256570 missense variant G/A snv
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia
0.700 1.000 9 1990 2005
dbSNP: rs762354873
rs762354873
1.000 0.080 3 136283886 missense variant G/A snv 4.0E-06
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia
0.700 1.000 9 1990 2005
dbSNP: rs1301904623
rs1301904623
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: rs200185747
rs200185747
1.000 0.080 3 136250424 missense variant C/A;G;T snv 1.5E-03; 1.5E-05
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia
0.700 0
dbSNP: rs375628794
rs375628794
1.000 0.080 13 100257643 missense variant T/A;C snv
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia
0.700 0
dbSNP: rs747053913
rs747053913
1.000 0.080 3 136255873 missense variant G/T snv
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia
0.700 0
dbSNP: rs794727087
rs794727087
1.000 0.080 13 100301530 missense variant G/T snv
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia
0.700 0