Source: CURATED

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: rs104893849
rs104893849
MMAA
1.000 0.080 4 145646043 missense variant A/G snv
CUI: C1855109
Disease: Methylmalonic aciduria cblA type
Methylmalonic aciduria cblA type 		0.800 1.000 7 2002 2017
dbSNP: rs150376474
rs150376474
MMAA
1.000 0.080 4 145646081 missense variant G/A snv 2.4E-05 2.8E-05
CUI: C1855109
Disease: Methylmalonic aciduria cblA type
Methylmalonic aciduria cblA type 		0.800 1.000 7 2002 2017
dbSNP: rs1553958392
rs1553958392
MMAA
1.000 0.080 4 145645998 missense variant G/A snv
CUI: C1855109
Disease: Methylmalonic aciduria cblA type
Methylmalonic aciduria cblA type 		0.800 1.000 7 2002 2017
dbSNP: rs1553958417
rs1553958417
MMAA
1.000 0.080 4 145646151 missense variant C/A snv
CUI: C1855109
Disease: Methylmalonic aciduria cblA type
Methylmalonic aciduria cblA type 		0.800 1.000 7 2002 2017
dbSNP: rs1553959024
rs1553959024
MMAA
1.000 0.080 4 145654034 missense variant C/A snv
CUI: C1855109
Disease: Methylmalonic aciduria cblA type
Methylmalonic aciduria cblA type 		0.800 1.000 7 2002 2017
dbSNP: rs1553959025
rs1553959025
MMAA
1.000 0.080 4 145654049 missense variant A/T snv
CUI: C1855109
Disease: Methylmalonic aciduria cblA type
Methylmalonic aciduria cblA type 		0.800 1.000 7 2002 2017
dbSNP: rs864309726
rs864309726
MMAA
1.000 0.080 4 145639405 missense variant T/C snv 4.0E-06 2.1E-05
CUI: C1855109
Disease: Methylmalonic aciduria cblA type
Methylmalonic aciduria cblA type 		0.800 1.000 7 2002 2017
dbSNP: rs864309729
rs864309729
MMAA
1.000 0.080 4 145642485 missense variant G/C snv
CUI: C1855109
Disease: Methylmalonic aciduria cblA type
Methylmalonic aciduria cblA type 		0.800 1.000 7 2002 2017
dbSNP: rs864309730
rs864309730
MMAA
1.000 0.080 4 145646076 missense variant G/A snv
CUI: C1855109
Disease: Methylmalonic aciduria cblA type
Methylmalonic aciduria cblA type 		0.800 1.000 7 2002 2017
dbSNP: rs864309731
rs864309731
MMAA
1.000 0.080 4 145655253 missense variant G/A snv 7.0E-06
CUI: C1855109
Disease: Methylmalonic aciduria cblA type
Methylmalonic aciduria cblA type 		0.800 1.000 7 2002 2017
dbSNP: rs104893851
rs104893851
MMAA
1.000 0.080 4 145639572 stop gained C/T snv 1.6E-04 1.7E-04
CUI: C1855109
Disease: Methylmalonic aciduria cblA type
Methylmalonic aciduria cblA type 		0.700 1.000 8 2004 2017
dbSNP: rs144389160
rs144389160
MMAA
1.000 0.080 4 145646010 missense variant G/A;T snv 2.4E-05
CUI: C1855109
Disease: Methylmalonic aciduria cblA type
Methylmalonic aciduria cblA type 		0.700 1.000 7 2002 2017
dbSNP: rs104893851
rs104893851
MMAA
1.000 0.080 4 145639572 stop gained C/T snv 1.6E-04 1.7E-04
CUI: C0268583
Disease: Methylmalonic acidemia
Methylmalonic acidemia 		0.700 1.000 5 2004 2017
dbSNP: rs757548934
rs757548934
MMAA
4 145651070 stop gained C/T snv 1.2E-05
CUI: C0268583
Disease: Methylmalonic acidemia
Methylmalonic acidemia 		0.700 1.000 4 2004 2015
dbSNP: rs1029096863
rs1029096863
MMAA
1.000 0.080 4 145646009 stop gained C/T snv 8.0E-06 7.0E-06
CUI: C1855109
Disease: Methylmalonic aciduria cblA type
Methylmalonic aciduria cblA type 		0.700 1.000 2 2006 2012
dbSNP: rs1553957883
rs1553957883
MMAA
1.000 0.080 4 145639211 stop gained C/A snv
CUI: C1855109
Disease: Methylmalonic aciduria cblA type
Methylmalonic aciduria cblA type 		0.700 1.000 2 2017 2017
dbSNP: rs1553958159
rs1553958159
MMAA
1.000 0.080 4 145642473 frameshift variant -/G delins
CUI: C1855109
Disease: Methylmalonic aciduria cblA type
Methylmalonic aciduria cblA type 		0.700 1.000 2 2012 2017
dbSNP: rs1553959113
rs1553959113
MMAA
1.000 0.080 4 145655145 splice acceptor variant A/T snv
CUI: C1855109
Disease: Methylmalonic aciduria cblA type
Methylmalonic aciduria cblA type 		0.700 1.000 2 2004 2017
dbSNP: rs765799472
rs765799472
MMAA
1.000 0.080 4 145639203 stop gained C/T snv 2.0E-05 7.0E-06
CUI: C0268583
Disease: Methylmalonic acidemia
Methylmalonic acidemia 		0.700 1.000 2 2004 2012
dbSNP: rs779939886
rs779939886
MMAA
1.000 0.080 4 145646157 splice donor variant G/A;T snv 4.0E-06; 1.2E-05
CUI: C1855109
Disease: Methylmalonic aciduria cblA type
Methylmalonic aciduria cblA type 		0.700 1.000 2 2004 2015
dbSNP: rs796051992
rs796051992
MMAA
1.000 0.080 4 145639526 stop gained C/A snv 8.0E-06
CUI: C1855109
Disease: Methylmalonic aciduria cblA type
Methylmalonic aciduria cblA type 		0.700 1.000 2 2004 2016
dbSNP: rs796051993
rs796051993
MMAA
1.000 0.080 4 145646013 frameshift variant CTGA/- delins
CUI: C0268583
Disease: Methylmalonic acidemia
Methylmalonic acidemia 		0.700 1.000 2 2004 2012
dbSNP: rs999844958
rs999844958
MMAA
1.000 0.080 4 145655252 stop gained C/G;T snv 4.0E-06 2.1E-05
CUI: C1855109
Disease: Methylmalonic aciduria cblA type
Methylmalonic aciduria cblA type 		0.700 1.000 2 2012 2017
dbSNP: rs104893846
rs104893846
MMAA
1.000 0.080 4 145639422 stop gained C/T snv 9.2E-05 1.4E-05
CUI: C1855109
Disease: Methylmalonic aciduria cblA type
Methylmalonic aciduria cblA type 		0.700 1.000 1 2004 2004
dbSNP: rs140356252
rs140356252
MMAA
1.000 0.080 4 145646073 stop gained T/A;C snv 1.2E-05
CUI: C1855109
Disease: Methylmalonic aciduria cblA type
Methylmalonic aciduria cblA type 		0.700 1.000 1 2004 2004