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: 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: 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: 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: 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: 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: rs771440617
rs771440617
MCCC2
1.000 0.120 5 71649109 missense variant G/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: rs1187203558
rs1187203558
MCCC2
1.000 0.120 5 71596286 missense variant G/T snv
CUI: C1859499
Disease: 3-methylcrotonyl CoA carboxylase 2 deficiency
3-methylcrotonyl CoA carboxylase 2 deficiency 		0.700 0
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: rs1254750166
rs1254750166
MCCC2
1.000 0.120 5 71626674 missense variant G/A snv
CUI: C1859499
Disease: 3-methylcrotonyl CoA carboxylase 2 deficiency
3-methylcrotonyl CoA carboxylase 2 deficiency 		0.700 0
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: 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: 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: rs758506791
rs758506791
MCCC2
1.000 0.120 5 71649180 missense variant G/A;C snv 8.0E-06
CUI: C1859499
Disease: 3-methylcrotonyl CoA carboxylase 2 deficiency
3-methylcrotonyl CoA carboxylase 2 deficiency 		0.700 0
dbSNP: rs765438239
rs765438239
MCCC2
1.000 0.120 5 71641057 missense variant G/A snv 8.0E-06
CUI: C1859499
Disease: 3-methylcrotonyl CoA carboxylase 2 deficiency
3-methylcrotonyl CoA carboxylase 2 deficiency 		0.700 0
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: rs774241918
rs774241918
MCCC2
1.000 0.120 5 71652750 missense variant G/A;T snv 2.4E-05; 4.0E-06
CUI: C1859499
Disease: 3-methylcrotonyl CoA carboxylase 2 deficiency
3-methylcrotonyl CoA carboxylase 2 deficiency 		0.700 0
dbSNP: rs886043524
rs886043524
MCCC2
1.000 0.120 5 71626667 missense variant G/A snv
CUI: C1859499
Disease: 3-methylcrotonyl CoA carboxylase 2 deficiency
3-methylcrotonyl CoA carboxylase 2 deficiency 		0.700 0
dbSNP: rs979584886
rs979584886
MCCC2
1.000 0.120 5 71652729 missense variant G/A snv 2.1E-05
CUI: C1859499
Disease: 3-methylcrotonyl CoA carboxylase 2 deficiency
3-methylcrotonyl CoA carboxylase 2 deficiency 		0.700 0