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: 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: rs119103223
rs119103223
MCCC2
1.000 0.120 5 71632185 missense variant G/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: 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: 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: rs139852818
rs139852818
MCCC2
1.000 0.120 5 71649202 missense variant T/A;C snv 4.0E-06; 1.0E-03
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: rs1443551700
rs1443551700
MCCC2
1.000 0.120 5 71635202 missense variant G/A 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: rs1450515408
rs1450515408
MCCC2
1.000 0.120 5 71646220 missense variant T/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: 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: 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: 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: rs535519604
rs535519604
MCCC2
1.000 0.120 5 71604422 missense variant G/A;T snv 4.0E-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: 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: 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: 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: 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: 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: 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