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Learn about Color's copilot tool in collaboration with OpenAI here.

Learn about the genes Color analyzes.

The genes we analyze depends on the version of Color you use.

For people who want a more complete understanding of their genes and health, and for those who have a personal or family history of conditions covered. Includes all genes currently analyzed by Color.

Color Extended: The most relevant genes for common hereditary cancers

Gene Breast Ovarian Uterine Colorectal Melanoma Pancreatic Stomach Prostate*
BRCA1
 
 
     
 
 
 
BRCA2
 
 
   
 
 
 
 
MLH1  
 
 
 
 
 
 
 
MSH2  
 
 
 
 
 
 
 
MSH6  
 
 
 
   
 
 
PMS2*  
 
 
 
     
 
EPCAM*  
 
 
 
 
 
 
 
APC      
 
 
 
 
 
MUTYH*      
 
       
MITF*        
 
     
BAP1        
 
     
CDKN2A        
 
 
   
CDK4*        
 
     
TP53
 
 
 
 
 
 
 
 
PTEN
 
 
 
 
 
     
STK11
 
 
 
 
 
 
 
 
CDH1
 
         
 
 
BMPR1A      
 
 
 
 
 
SMAD4      
 
 
 
 
 
GREM1*      
 
       
POLD1*      
 
       
POLE*      
 
       
PALB2
 
 
     
 
   
CHEK2
 
   
 
     
 
ATM
 
       
 
 
 
BARD1
 
             
BRIP1
 
 
           
RAD51C
 
 
           
RAD51D
 
 
           

* CDK4: analysis is limited to chr12:g.58145429-58145431 (codon 24). EPCAM: analysis is limited to deletions that minimally encompass the 3’ end of the gene including exons 8 and/or 9. GREM1: analysis is limited to duplications that overlap the upstream regulatory region. MITF: analysis is limited to chr3:g.70014091 (including c.952G>A). MUTYH: single heterozygous pathogenic variants, likely pathogenic variants, and variants of uncertain significance are not reported. PMS2: variants of uncertain significance are not reported for exons 12-15. Analysis excludes three variants commonly observed in the pseudogene PMS2CL: c.2182_2184delinsG, c.2243_2246delAGAA and deletion of exons 13-14 (chr7:g.6015768_6018727del). POLD1: analysis is limited to chr19:g.50909713 (including c.1433G>A). POLE: analysis is limited to chr12:g.133250250 (including c.1270C>G).


Color Extended: The most relevant genes for common hereditary heart conditions

Gene Cardiomyopathies Arrhythmias Arteriopathies Familial Hypercholesterolemia
ACTA2    
 
 
ACTC1
 
     
APOB*      
 
COL3A1    
 
 
DSC2
 
     
DSG2
 
     
DSP
 
     
FBN1    
 
 
GLA
 
     
KCNH2*  
 
   
KCNQ1*  
 
   
LDLR      
 
LMNA
 
     
MYBPC3*
 
     
MYH7*
 
     
MYH11    
 
 
MYL2
 
     
MYL3
 
     
PCSK9      
 
PKP2
 
     
PRKAG2*
 
     
RYR2  
 
   
SCN5A  
 
   
SMAD3    
 
 
TGFBR1*    
 
 
TGFBR2    
 
 
TMEM43
 
     
TNNI3
 
     
TNNT2
 
     
TPM1
 
     

* APOB: analysis is limited to chr2:g.21229159_21229161 (codon 3527). KCNH2: exon 4 and 14 are not analyzed. KCNQ1: exon 1 is not analyzed. MYBPC3: exon 11 is not analyzed. MYH7: variants of uncertain significance are not reported for exon 27. PRKAG2: exon 5 is not analyzed. TGFBR1: exon 1 is not analyzed.


Color Extended: Genes associated with some commonly prescribed medications

Gene Star alleles and variants analyzed
CYP1A2 *1, *1F, *1K
CY2C9 *1, *2, *3, *4, *5, *6, *8, *9, *11, *12, *13, *14, *15, *16, *23, *24, *26, *29, *31, *33, *35, *39, *42, *43, *44, *45, *46, *55, *61
CYP2C19 *1, *2, *3, *4, *5, *6, *7, *8, *9, *10, *16, *17, *19, *22, *24, *25, *26, *35, *38
CYP2D6 *1, *2, *3, *4, *4N, *5, *6, *7, *8, *9, *10, *11, *12, *13, *14, *15, *17, *18, *19, *21, *29, *31, *32, *35, *36, *40, *41, *42, *45, *49, *54, *55, *56, *59, *68, *69, *114
CYP3A4 *1, *20, *22
CYP3A5 *1, *3, *6, *7
CYP4F2 *1, *2, *3, *4, rs2108622
DPYD *1, *2A, *3, *4, *5, *6, *7, *8, *9A, *9B, *10, *11, *12, *13, HapB3, rs3918290, rs55886062.1, rs75017182, rs56038477, rs67376798, rs115232898
F5 rs6025
IFNL3 rs12979860
NUDT15 *1, *2, *3, *4, *6, *9, *14, rs116855232
SLCO1B1 *1, *5, *9, *14, *15, *20, *31, *46, *47, rs2306283, rs4149056
TPMT *1, *2, *3A, *3B, *3C, *4, *8, *11, *14, *15, *23, *24, *29, *41, *42
VKORC1 rs9923231, rs72547529, rs61742245

 

Available through employers and healthcare providers. Includes only the 10 most actionable genes, recognized by the CDC as important for public health, and genes related to medication reaction.

Color Standard: Cancer genes recognized by the CDC as important for public health

Gene Breast Ovarian Uterine Colorectal Melanoma Pancreatic Stomach Prostate*
BRCA1
 
 
     
 
 
 
BRCA2
 
 
   
 
 
 
 
MLH1  
 
 
 
 
 
 
 
MSH2  
 
 
 
 
 
 
 
MSH6  
 
 
 
   
 
 
PMS2*  
 
 
 
     
 
EPCAM*  
 
 
 
 
 
 
 

* EPCAM: analysis is limited to deletions that minimally encompass the 3’ end of the gene including exons 8 and/or 9. PMS2: variants of uncertain significance are not reported for exons 12-15. Analysis excludes three variants commonly observed in the pseudogene PMS2CL: c.2182_2184delinsG, c.2243_2246delAGAA and deletion of exons 13-14 (chr7:g.6015768_6018727del).

Color Standard: Familial Hypercholesterolemia (FH) genes recognized by the CDC as important for public health

Gene Familial Hypercholesterolemia (FH)
APOB*
 
LDLR
 
PCSK9
 

*APOB: analysis is limited to chr2:g.21229159_21229161 (codon 3527).

Color Standard: Genes associated with some commonly prescribed medications

Gene Star alleles and variants analyzed
CYP1A2 *1F, *1J, *1K
CY2C9 *1, *2, *3, *4, *5, *6, *8, *9, *11, *12, *13, *14, *15, *16, *23, *24, *26, *29, *31, *33, *35, *39, *42, *43, *44, *45, *46, *55, *61
CYP2C19 *1, *2, *3, *4, *5, *6, *7, *8, *9, *10, *16, *17, *19, *22, *24, *25, *26, *35, *38
CYP2D6 *1, *2, *3, *4, *4N, *5, *6, *7, *8, *9, *10, *11, *12, *13, *14, *15, *17, *18, *19, *21, *29, *31, *32, *35, *36, *40, *41, *42, *45, *49, *54, *55, *56, *59, *68, *69, *114
CYP3A4 *1, *20, *22
CYP3A5 *1, *3, *6, *7
CYP4F2 *1, *2, *3, *4, rs2108622
DPYD *1, *2A, *3, *4, *5, *6, *7, *8, *9A, *9B, *10, *11, *12, *13, HapB3, rs3918290, rs55886062.1, rs75017182, rs56038477, rs67376798, rs115232898
F5 rs6025
IFNL3 rs12979860
NUDT15 *1, *2, *3, *4, *6, *9, *14, rs116855232
SLCO1B1 *1, *5, *9, *14, *15, *20, *31, *46, *47, rs2306283, rs4149056
TPMT *1, *2, *3A, *3B, *3C, *4, *8, *11, *14, *15, *23, *24, *29, *41, *42
VKORC1 rs9923231, rs72547529, rs61742245

 

For those who would like to understand hereditary cancer risk only.

Color Hereditary Cancer: The most relevant genes for common hereditary cancers

Gene Breast Ovarian Uterine Colorectal Melanoma Pancreatic Stomach Prostate*
BRCA1
 
 
     
 
 
 
BRCA2
 
 
   
 
 
 
 
MLH1  
 
 
 
 
 
 
 
MSH2  
 
 
 
 
 
 
 
MSH6  
 
 
 
   
 
 
PMS2*  
 
 
 
     
 
EPCAM*  
 
 
 
 
 
 
 
APC      
 
 
 
 
 
MUTYH*      
 
       
MITF*        
 
     
BAP1        
 
     
CDKN2A        
 
 
   
CDK4*        
 
     
TP53
 
 
 
 
 
 
 
 
PTEN
 
 
 
 
 
     
STK11
 
 
 
 
 
 
 
 
CDH1
 
         
 
 
BMPR1A      
 
 
 
 
 
SMAD4      
 
 
 
 
 
GREM1*      
 
       
POLD1*      
 
       
POLE*      
 
       
PALB2
 
 
     
 
   
CHEK2
 
   
 
     
 
ATM
 
       
 
 
 
BARD1
 
             
BRIP1
 
 
           
RAD51C
 
 
           
RAD51D
 
 
           

* CDK4: analysis is limited to chr12:g.58145429-58145431 (codon 24). EPCAM: analysis is limited to deletions that minimally encompass the 3’ end of the gene including exons 8 and/or 9. GREM1: analysis is limited to duplications that overlap the upstream regulatory region. MITF: analysis is limited to chr3:g.70014091 (including c.952G>A). MUTYH: single heterozygous pathogenic variants, likely pathogenic variants, and variants of uncertain significance are not reported. PMS2: variants of uncertain significance are not reported for exons 12-15. Analysis excludes three variants commonly observed in the pseudogene PMS2CL: c.2182_2184delinsG, c.2243_2246delAGAA and deletion of exons 13-14 (chr7:g.6015768_6018727del). POLD1: analysis is limited to chr19:g.50909713 (including c.1433G>A). POLE: analysis is limited to chr12:g.133250250 (including c.1270C>G).

 

Last updated: May 2024