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: rs1554134065
rs1554134065
MCCC2
1.000 0.120 5 71602577 missense variant A/C snv
CUI: C1859499
Disease: 3-methylcrotonyl CoA carboxylase 2 deficiency
3-methylcrotonyl CoA carboxylase 2 deficiency 		0.700 1.000 11 2001 2016
dbSNP: rs142887940
rs142887940
MCCC2
1.000 0.120 5 71646269 missense variant A/C;G snv 4.0E-06; 1.1E-04
CUI: C1859499
Disease: 3-methylcrotonyl CoA carboxylase 2 deficiency
3-methylcrotonyl CoA carboxylase 2 deficiency 		0.700 1.000 11 2001 2016
dbSNP: rs750782118
rs750782118
MCCC2
1.000 0.120 5 71646239 missense variant A/C;G snv 4.0E-06; 8.0E-06
CUI: C1859499
Disease: 3-methylcrotonyl CoA carboxylase 2 deficiency
3-methylcrotonyl CoA carboxylase 2 deficiency 		0.700 1.000 11 2001 2016
dbSNP: rs150327768
rs150327768
MCCC2
1.000 0.120 5 71652739 missense variant A/C;G;T snv 2.0E-05; 8.0E-06; 4.0E-06
CUI: C1859499
Disease: 3-methylcrotonyl CoA carboxylase 2 deficiency
3-methylcrotonyl CoA carboxylase 2 deficiency 		0.700 1.000 11 2001 2016
dbSNP: rs119103225
rs119103225
MCCC2
1.000 0.120 5 71604413 missense variant A/G snv
CUI: C1859499
Disease: 3-methylcrotonyl CoA carboxylase 2 deficiency
3-methylcrotonyl CoA carboxylase 2 deficiency 		0.700 1.000 11 2001 2016
dbSNP: rs1257849672
rs1257849672
MCCC2
1.000 0.120 5 71656831 missense variant A/G snv 4.0E-06 3.5E-05
CUI: C1859499
Disease: 3-methylcrotonyl CoA carboxylase 2 deficiency
3-methylcrotonyl CoA carboxylase 2 deficiency 		0.700 1.000 11 2001 2016
dbSNP: rs1459143051
rs1459143051
MCCC2
1.000 0.120 5 71652747 missense variant A/G snv
CUI: C1859499
Disease: 3-methylcrotonyl CoA carboxylase 2 deficiency
3-methylcrotonyl CoA carboxylase 2 deficiency 		0.700 1.000 11 2001 2016
dbSNP: rs769558016
rs769558016
MCCC2
1.000 0.120 5 71650125 missense variant A/G snv 7.0E-06
CUI: C1859499
Disease: 3-methylcrotonyl CoA carboxylase 2 deficiency
3-methylcrotonyl CoA carboxylase 2 deficiency 		0.700 1.000 11 2001 2016
dbSNP: rs766753795
rs766753795
MCCC2
1.000 0.120 5 71626703 missense variant A/G snv
CUI: C1859499
Disease: 3-methylcrotonyl CoA carboxylase 2 deficiency
3-methylcrotonyl CoA carboxylase 2 deficiency 		0.800 1.000 0 2016 2016
dbSNP: rs773115035
rs773115035
MCCC2
1.000 0.120 5 71635200 missense variant A/G snv 2.0E-05 7.0E-06
CUI: C1859499
Disease: 3-methylcrotonyl CoA carboxylase 2 deficiency
3-methylcrotonyl CoA carboxylase 2 deficiency 		0.700 0
dbSNP: rs119103224
rs119103224
MCCC2
1.000 0.120 5 71649189 missense variant A/G;T snv 2.0E-05; 8.0E-06
CUI: C1859499
Disease: 3-methylcrotonyl CoA carboxylase 2 deficiency
3-methylcrotonyl CoA carboxylase 2 deficiency 		0.700 1.000 11 2001 2016
dbSNP: rs398124370
rs398124370
MCCC2
1.000 0.120 5 71641022 missense variant A/T snv 4.0E-06 2.1E-05
CUI: C1859499
Disease: 3-methylcrotonyl CoA carboxylase 2 deficiency
3-methylcrotonyl CoA carboxylase 2 deficiency 		0.700 0
dbSNP: rs757052602
rs757052602
MCCC2
1.000 0.120 5 71641068 missense variant A/T snv 3.6E-04 1.1E-04
CUI: C1859499
Disease: 3-methylcrotonyl CoA carboxylase 2 deficiency
3-methylcrotonyl CoA carboxylase 2 deficiency 		0.800 1.000 0 2011 2015
dbSNP: rs748028684
rs748028684
MCCC2
1.000 0.120 5 71599679 missense variant C/A;T snv 8.0E-06
CUI: C1859499
Disease: 3-methylcrotonyl CoA carboxylase 2 deficiency
3-methylcrotonyl CoA carboxylase 2 deficiency 		0.700 0
dbSNP: rs119103221
rs119103221
MCCC2
1.000 0.120 5 71635176 missense variant C/G snv 4.0E-06
CUI: C1859499
Disease: 3-methylcrotonyl CoA carboxylase 2 deficiency
3-methylcrotonyl CoA carboxylase 2 deficiency 		0.700 1.000 11 2001 2016
dbSNP: rs752866557
rs752866557
MCCC2
1.000 0.120 5 71604362 missense variant C/G;T snv 2.0E-05
CUI: C1859499
Disease: 3-methylcrotonyl CoA carboxylase 2 deficiency
3-methylcrotonyl CoA carboxylase 2 deficiency 		0.700 1.000 11 2001 2016
dbSNP: rs547662164
rs547662164
MCCC2
1.000 0.120 5 71604421 missense variant C/T snv 2.8E-05 3.5E-05
CUI: C1859499
Disease: 3-methylcrotonyl CoA carboxylase 2 deficiency
3-methylcrotonyl CoA carboxylase 2 deficiency 		0.700 1.000 11 2001 2016
dbSNP: rs754741111
rs754741111
MCCC2
1.000 0.120 5 71650070 missense variant C/T snv 8.0E-06
CUI: C1859499
Disease: 3-methylcrotonyl CoA carboxylase 2 deficiency
3-methylcrotonyl CoA carboxylase 2 deficiency 		0.700 1.000 11 2001 2016
dbSNP: rs760420191
rs760420191
MCCC2
1.000 0.120 5 71626668 missense variant C/T snv 2.8E-05
CUI: C1859499
Disease: 3-methylcrotonyl CoA carboxylase 2 deficiency
3-methylcrotonyl CoA carboxylase 2 deficiency 		0.700 1.000 11 2001 2016
dbSNP: rs1195601465
rs1195601465
MCCC2
1.000 0.120 5 71626686 missense variant C/T snv 7.0E-06
CUI: C1859499
Disease: 3-methylcrotonyl CoA carboxylase 2 deficiency
3-methylcrotonyl CoA carboxylase 2 deficiency 		0.700 0
dbSNP: rs141030969
rs141030969
MCCC2
1.000 0.120 5 71602585 missense variant C/T snv 4.4E-05 2.1E-05
CUI: C1859499
Disease: 3-methylcrotonyl CoA carboxylase 2 deficiency
3-methylcrotonyl CoA carboxylase 2 deficiency 		0.800 1.000 0 2005 2012
dbSNP: rs398124371
rs398124371
MCCC2
1.000 0.120 5 71587541 missense variant C/T snv 7.5E-06 7.0E-06
CUI: C1859499
Disease: 3-methylcrotonyl CoA carboxylase 2 deficiency
3-methylcrotonyl CoA carboxylase 2 deficiency 		0.700 0
dbSNP: rs727504011
rs727504011
MCCC2
1.000 0.120 5 71649247 missense variant C/T snv 1.6E-05 7.0E-06
CUI: C1859499
Disease: 3-methylcrotonyl CoA carboxylase 2 deficiency
3-methylcrotonyl CoA carboxylase 2 deficiency 		0.700 0
dbSNP: rs773774134
rs773774134
MCCC2
1.000 0.120 5 71604412 missense variant C/T snv 1.6E-05 2.1E-05
CUI: C1859499
Disease: 3-methylcrotonyl CoA carboxylase 2 deficiency
3-methylcrotonyl CoA carboxylase 2 deficiency 		0.800 1.000 0 2005 2005
dbSNP: rs119103220
rs119103220
MCCC2
1.000 0.120 5 71602586 missense variant G/A snv 7.0E-06
CUI: C1859499
Disease: 3-methylcrotonyl CoA carboxylase 2 deficiency
3-methylcrotonyl CoA carboxylase 2 deficiency 		0.700 1.000 11 2001 2016