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: 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: rs148773718
rs148773718
MCCC2
1.000 0.120 5 71650118 missense variant G/A snv 9.5E-05 1.5E-04
CUI: C1859499
Disease: 3-methylcrotonyl CoA carboxylase 2 deficiency
3-methylcrotonyl CoA carboxylase 2 deficiency 		0.800 1.000 11 2001 2016
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: 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: 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
dbSNP: rs150591260
rs150591260
MCCC2
1.000 0.120 5 71641018 missense variant G/A;C snv 7.8E-04; 4.0E-06 5.7E-04
CUI: C1859499
Disease: 3-methylcrotonyl CoA carboxylase 2 deficiency
3-methylcrotonyl CoA carboxylase 2 deficiency 		0.800 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: rs119103219
rs119103219
MCCC2
1.000 0.120 5 71599672 missense variant G/A;C snv 3.6E-05 1.4E-04
CUI: C1859499
Disease: 3-methylcrotonyl CoA carboxylase 2 deficiency
3-methylcrotonyl CoA carboxylase 2 deficiency 		0.800 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: 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: 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: 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: rs277995
rs277995
MCCC2
1.000 0.120 5 71626656 missense variant G/C snv 2.8E-05 4.9E-05
CUI: C1859499
Disease: 3-methylcrotonyl CoA carboxylase 2 deficiency
3-methylcrotonyl CoA carboxylase 2 deficiency 		0.700 1.000 11 2001 2016
dbSNP: rs119103226
rs119103226
MCCC2
1.000 0.120 5 71634977 missense variant G/T snv 5.6E-05 7.0E-06
CUI: C1859499
Disease: 3-methylcrotonyl CoA carboxylase 2 deficiency
3-methylcrotonyl CoA carboxylase 2 deficiency 		0.800 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: rs140806722
rs140806722
MCCC2
1.000 0.120 5 71604443 missense variant T/A snv 2.1E-03 2.6E-03
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: rs119103222
rs119103222
MCCC2
1.000 0.120 5 71602621 missense variant T/C snv 4.0E-06 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: 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