National Institutes of Health All of Us Research Program

Hereditary Disease Risk

Learn about the genes that the All of Us Research Program looks at to give you results about your risk for certain health conditions.

Hereditary means something that is, or can be, passed down from biological parents to kids. Genetic variants, or differences in your DNA, can be hereditary. Some can affect your health. People who have certain genetic variants may have a higher risk of getting a disease than the average person. All of Us can provide you with a report about your hereditary disease risk.

If you want to see your Hereditary Disease Risk report, we will check your DNA for the genes listed below. Certain genetic variants in these genes are associated with serious health conditions. All of these conditions have treatment or prevention options. Knowing if you are at a higher risk for these conditions can be important for your health.

It is important to remember that your results from All of Us are research results. Before using these results in your care, they will need to be confirmed with a clinical test.

As our knowledge of genes increases, the list of genes and associated health conditions we look at might change in the future.

Hereditary Disease Risk Report Gene List

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Gene

ACTA2 familial thoracic aortic aneurysm and aortic dissection a blood vessel disorder MedGen
ACTC1 hypertrophic cardiomyopathy a heart disorder MedGen
APC familial adenomatous polyposis some types of cancers MedGen
APOB familial hypercholesterolemia dangerously high cholesterol MedGen
ATP7B Wilson disease a disorder called Wilson disease MedGen
BMPR1A juvenile polyposis syndrome some types of cancers MedGen
BRCA1 hereditary breast and ovarian cancer syndrome some types of cancers MedGen
BRCA2 hereditary breast and ovarian cancer syndrome some types of cancers MedGen
CACNA1S malignant hyperthermia susceptibility a disorder called malignant hyperthermia MedGen
COL3A1 vascular Ehlers-Danlos syndrome (EDS) a disorder called Ehlers-Danlos syndrome (EDS) MedGen
DSC2 arrhythmogenic cardiomyopathy a heart disorder MedGen
DSG2 arrhythmogenic cardiomyopathy a heart disorder MedGen
DSP arrhythmogenic cardiomyopathy and dilated cardiomyopathy a heart disorder MedGen
FBN1 Marfan syndrome a blood vessel disorder MedGen
GLA Fabry disease a disorder called Fabry disease MedGen
KCNH2 long QT syndrome a heart disorder MedGen
KCNQ1 long QT syndrome a heart disorder MedGen
LDLR familial hypercholesterolemia dangerously high cholesterol MedGen
LMNA dilated cardiomyopathy a heart disorder MedGen
MEN1 multiple endocrine neoplasia type 1 a disorder called multiple endocrine neoplasia (MEN1) MedGen
MLH1 Lynch syndrome some types of cancers MedGen
MSH2 Lynch syndrome some types of cancers MedGen
MSH6 Lynch syndrome some types of cancers MedGen
MUTYH MUTYH-associated polyposis some types of cancers MedGen
MYBPC3 hypertrophic cardiomyopathy a heart disorder MedGen
MYH11 familial thoracic aortic aneurysm and aortic dissection a blood vessel disorder MedGen
MYH7 dilated cardiomyopathy and hypertrophic cardiomyopathy a heart disorder MedGen
MYL2 hypertrophic cardiomyopathy a heart disorder MedGen
MYL3 hypertrophic cardiomyopathy a heart disorder MedGen
NF2 neurofibromatosis type 2 a disorder called neurofibromatosis MedGen
OTC ornithine carbamoyltransferase (OTC) deficiency a disorder called ornithine carbamoyltransferase (OTC) deficiency MedGen
PCSK9 familial hypercholesterolemia dangerously high cholesterol MedGen
PKP2 arrhythmogenic cardiomyopathy a heart disorder MedGen
PMS2 Lynch syndrome some types of cancers MedGen
PRKAG2 hypertrophic cardiomyopathy a heart disorder MedGen
PTEN PTEN hamartoma tumor syndrome some types of cancer MedGen
RB1 retinoblastoma some types of cancer MedGen
RET multiple endocrine neoplasia type 2 (MEN2) a disorder called multiple endocrine neoplasia (MEN2) MedGen MedGen
RYR1 malignant hyperthermia a disorder called malignant hyperthermia MedGen
RYR2 catecholaminergic polymorphic ventricular tachycardia a heart disorder MedGen
SCN5A Brugada syndrome and long QT syndrome 3 a heart disorder MedGen MedGen
SDHAF2 paragangliomas 2 some type of non-cancer growths MedGen
SDHB paragangliomas 4 some type of non-cancer growths MedGen
SDHC paragangliomas 3 some type of non-cancer growths MedGen
SDHD paragangliomas 1 some type of non-cancer growths MedGen
SMAD3 Loeys-Dietz syndrome a blood vessel disorder MedGen
SMAD4 juvenile polyposis syndrome some types of cancers MedGen
STK11 Peutz-Jeghers syndrome some types of cancers MedGen
TGFBR1 Loeys-Dietz syndrome a blood vessel disorder MedGen MedGen
TGFBR2 Loeys-Dietz syndrome a blood vessel disorder MedGen MedGen
TMEM43 arrhythmogenic cardiomyopathy a heart disorder MedGen
TNNI3 hypertrophic cardiomyopathy a heart disorder MedGen
TNNT2 dilated cardiomyopathy and hypertrophic cardiomyopathy a heart disorder MedGen
TP53 Li-Fraumeni syndrome some types of cancers MedGen
TPM1 hypertrophic cardiomyopathy a heart disorder MedGen
TSC1 tuberous sclerosis complex a disorder called tuberous sclerosis complex MedGen
TSC2 tuberous sclerosis complex a disorder called tuberous sclerosis complex MedGen
VHL von Hippel-Lindau syndrome some types of cancer MedGen
WT1 Wilms tumor a type of cancer called Wilms tumor MedGen

Condition associated
with this gene

ACTA2 familial thoracic aortic aneurysm and aortic dissection a blood vessel disorder MedGen
ACTC1 hypertrophic cardiomyopathy a heart disorder MedGen
APC familial adenomatous polyposis some types of cancers MedGen
APOB familial hypercholesterolemia dangerously high cholesterol MedGen
ATP7B Wilson disease a disorder called Wilson disease MedGen
BMPR1A juvenile polyposis syndrome some types of cancers MedGen
BRCA1 hereditary breast and ovarian cancer syndrome some types of cancers MedGen
BRCA2 hereditary breast and ovarian cancer syndrome some types of cancers MedGen
CACNA1S malignant hyperthermia susceptibility a disorder called malignant hyperthermia MedGen
COL3A1 vascular Ehlers-Danlos syndrome (EDS) a disorder called Ehlers-Danlos syndrome (EDS) MedGen
DSC2 arrhythmogenic cardiomyopathy a heart disorder MedGen
DSG2 arrhythmogenic cardiomyopathy a heart disorder MedGen
DSP arrhythmogenic cardiomyopathy and dilated cardiomyopathy a heart disorder MedGen
FBN1 Marfan syndrome a blood vessel disorder MedGen
GLA Fabry disease a disorder called Fabry disease MedGen
KCNH2 long QT syndrome a heart disorder MedGen
KCNQ1 long QT syndrome a heart disorder MedGen
LDLR familial hypercholesterolemia dangerously high cholesterol MedGen
LMNA dilated cardiomyopathy a heart disorder MedGen
MEN1 multiple endocrine neoplasia type 1 a disorder called multiple endocrine neoplasia (MEN1) MedGen
MLH1 Lynch syndrome some types of cancers MedGen
MSH2 Lynch syndrome some types of cancers MedGen
MSH6 Lynch syndrome some types of cancers MedGen
MUTYH MUTYH-associated polyposis some types of cancers MedGen
MYBPC3 hypertrophic cardiomyopathy a heart disorder MedGen
MYH11 familial thoracic aortic aneurysm and aortic dissection a blood vessel disorder MedGen
MYH7 dilated cardiomyopathy and hypertrophic cardiomyopathy a heart disorder MedGen
MYL2 hypertrophic cardiomyopathy a heart disorder MedGen
MYL3 hypertrophic cardiomyopathy a heart disorder MedGen
NF2 neurofibromatosis type 2 a disorder called neurofibromatosis MedGen
OTC ornithine carbamoyltransferase (OTC) deficiency a disorder called ornithine carbamoyltransferase (OTC) deficiency MedGen
PCSK9 familial hypercholesterolemia dangerously high cholesterol MedGen
PKP2 arrhythmogenic cardiomyopathy a heart disorder MedGen
PMS2 Lynch syndrome some types of cancers MedGen
PRKAG2 hypertrophic cardiomyopathy a heart disorder MedGen
PTEN PTEN hamartoma tumor syndrome some types of cancer MedGen
RB1 retinoblastoma some types of cancer MedGen
RET multiple endocrine neoplasia type 2 (MEN2) a disorder called multiple endocrine neoplasia (MEN2) MedGen MedGen
RYR1 malignant hyperthermia a disorder called malignant hyperthermia MedGen
RYR2 catecholaminergic polymorphic ventricular tachycardia a heart disorder MedGen
SCN5A Brugada syndrome and long QT syndrome 3 a heart disorder MedGen MedGen
SDHAF2 paragangliomas 2 some type of non-cancer growths MedGen
SDHB paragangliomas 4 some type of non-cancer growths MedGen
SDHC paragangliomas 3 some type of non-cancer growths MedGen
SDHD paragangliomas 1 some type of non-cancer growths MedGen
SMAD3 Loeys-Dietz syndrome a blood vessel disorder MedGen
SMAD4 juvenile polyposis syndrome some types of cancers MedGen
STK11 Peutz-Jeghers syndrome some types of cancers MedGen
TGFBR1 Loeys-Dietz syndrome a blood vessel disorder MedGen MedGen
TGFBR2 Loeys-Dietz syndrome a blood vessel disorder MedGen MedGen
TMEM43 arrhythmogenic cardiomyopathy a heart disorder MedGen
TNNI3 hypertrophic cardiomyopathy a heart disorder MedGen
TNNT2 dilated cardiomyopathy and hypertrophic cardiomyopathy a heart disorder MedGen
TP53 Li-Fraumeni syndrome some types of cancers MedGen
TPM1 hypertrophic cardiomyopathy a heart disorder MedGen
TSC1 tuberous sclerosis complex a disorder called tuberous sclerosis complex MedGen
TSC2 tuberous sclerosis complex a disorder called tuberous sclerosis complex MedGen
VHL von Hippel-Lindau syndrome some types of cancer MedGen
WT1 Wilms tumor a type of cancer called Wilms tumor MedGen

What it is

ACTA2 familial thoracic aortic aneurysm and aortic dissection a blood vessel disorder MedGen
ACTC1 hypertrophic cardiomyopathy a heart disorder MedGen
APC familial adenomatous polyposis some types of cancers MedGen
APOB familial hypercholesterolemia dangerously high cholesterol MedGen
ATP7B Wilson disease a disorder called Wilson disease MedGen
BMPR1A juvenile polyposis syndrome some types of cancers MedGen
BRCA1 hereditary breast and ovarian cancer syndrome some types of cancers MedGen
BRCA2 hereditary breast and ovarian cancer syndrome some types of cancers MedGen
CACNA1S malignant hyperthermia susceptibility a disorder called malignant hyperthermia MedGen
COL3A1 vascular Ehlers-Danlos syndrome (EDS) a disorder called Ehlers-Danlos syndrome (EDS) MedGen
DSC2 arrhythmogenic cardiomyopathy a heart disorder MedGen
DSG2 arrhythmogenic cardiomyopathy a heart disorder MedGen
DSP arrhythmogenic cardiomyopathy and dilated cardiomyopathy a heart disorder MedGen
FBN1 Marfan syndrome a blood vessel disorder MedGen
GLA Fabry disease a disorder called Fabry disease MedGen
KCNH2 long QT syndrome a heart disorder MedGen
KCNQ1 long QT syndrome a heart disorder MedGen
LDLR familial hypercholesterolemia dangerously high cholesterol MedGen
LMNA dilated cardiomyopathy a heart disorder MedGen
MEN1 multiple endocrine neoplasia type 1 a disorder called multiple endocrine neoplasia (MEN1) MedGen
MLH1 Lynch syndrome some types of cancers MedGen
MSH2 Lynch syndrome some types of cancers MedGen
MSH6 Lynch syndrome some types of cancers MedGen
MUTYH MUTYH-associated polyposis some types of cancers MedGen
MYBPC3 hypertrophic cardiomyopathy a heart disorder MedGen
MYH11 familial thoracic aortic aneurysm and aortic dissection a blood vessel disorder MedGen
MYH7 dilated cardiomyopathy and hypertrophic cardiomyopathy a heart disorder MedGen
MYL2 hypertrophic cardiomyopathy a heart disorder MedGen
MYL3 hypertrophic cardiomyopathy a heart disorder MedGen
NF2 neurofibromatosis type 2 a disorder called neurofibromatosis MedGen
OTC ornithine carbamoyltransferase (OTC) deficiency a disorder called ornithine carbamoyltransferase (OTC) deficiency MedGen
PCSK9 familial hypercholesterolemia dangerously high cholesterol MedGen
PKP2 arrhythmogenic cardiomyopathy a heart disorder MedGen
PMS2 Lynch syndrome some types of cancers MedGen
PRKAG2 hypertrophic cardiomyopathy a heart disorder MedGen
PTEN PTEN hamartoma tumor syndrome some types of cancer MedGen
RB1 retinoblastoma some types of cancer MedGen
RET multiple endocrine neoplasia type 2 (MEN2) a disorder called multiple endocrine neoplasia (MEN2) MedGen MedGen
RYR1 malignant hyperthermia a disorder called malignant hyperthermia MedGen
RYR2 catecholaminergic polymorphic ventricular tachycardia a heart disorder MedGen
SCN5A Brugada syndrome and long QT syndrome 3 a heart disorder MedGen MedGen
SDHAF2 paragangliomas 2 some type of non-cancer growths MedGen
SDHB paragangliomas 4 some type of non-cancer growths MedGen
SDHC paragangliomas 3 some type of non-cancer growths MedGen
SDHD paragangliomas 1 some type of non-cancer growths MedGen
SMAD3 Loeys-Dietz syndrome a blood vessel disorder MedGen
SMAD4 juvenile polyposis syndrome some types of cancers MedGen
STK11 Peutz-Jeghers syndrome some types of cancers MedGen
TGFBR1 Loeys-Dietz syndrome a blood vessel disorder MedGen MedGen
TGFBR2 Loeys-Dietz syndrome a blood vessel disorder MedGen MedGen
TMEM43 arrhythmogenic cardiomyopathy a heart disorder MedGen
TNNI3 hypertrophic cardiomyopathy a heart disorder MedGen
TNNT2 dilated cardiomyopathy and hypertrophic cardiomyopathy a heart disorder MedGen
TP53 Li-Fraumeni syndrome some types of cancers MedGen
TPM1 hypertrophic cardiomyopathy a heart disorder MedGen
TSC1 tuberous sclerosis complex a disorder called tuberous sclerosis complex MedGen
TSC2 tuberous sclerosis complex a disorder called tuberous sclerosis complex MedGen
VHL von Hippel-Lindau syndrome some types of cancer MedGen
WT1 Wilms tumor a type of cancer called Wilms tumor MedGen

Links to
additional information

ACTA2 familial thoracic aortic aneurysm and aortic dissection a blood vessel disorder MedGen
ACTC1 hypertrophic cardiomyopathy a heart disorder MedGen
APC familial adenomatous polyposis some types of cancers MedGen
APOB familial hypercholesterolemia dangerously high cholesterol MedGen
ATP7B Wilson disease a disorder called Wilson disease MedGen
BMPR1A juvenile polyposis syndrome some types of cancers MedGen
BRCA1 hereditary breast and ovarian cancer syndrome some types of cancers MedGen
BRCA2 hereditary breast and ovarian cancer syndrome some types of cancers MedGen
CACNA1S malignant hyperthermia susceptibility a disorder called malignant hyperthermia MedGen
COL3A1 vascular Ehlers-Danlos syndrome (EDS) a disorder called Ehlers-Danlos syndrome (EDS) MedGen
DSC2 arrhythmogenic cardiomyopathy a heart disorder MedGen
DSG2 arrhythmogenic cardiomyopathy a heart disorder MedGen
DSP arrhythmogenic cardiomyopathy and dilated cardiomyopathy a heart disorder MedGen
FBN1 Marfan syndrome a blood vessel disorder MedGen
GLA Fabry disease a disorder called Fabry disease MedGen
KCNH2 long QT syndrome a heart disorder MedGen
KCNQ1 long QT syndrome a heart disorder MedGen
LDLR familial hypercholesterolemia dangerously high cholesterol MedGen
LMNA dilated cardiomyopathy a heart disorder MedGen
MEN1 multiple endocrine neoplasia type 1 a disorder called multiple endocrine neoplasia (MEN1) MedGen
MLH1 Lynch syndrome some types of cancers MedGen
MSH2 Lynch syndrome some types of cancers MedGen
MSH6 Lynch syndrome some types of cancers MedGen
MUTYH MUTYH-associated polyposis some types of cancers MedGen
MYBPC3 hypertrophic cardiomyopathy a heart disorder MedGen
MYH11 familial thoracic aortic aneurysm and aortic dissection a blood vessel disorder MedGen
MYH7 dilated cardiomyopathy and hypertrophic cardiomyopathy a heart disorder MedGen
MYL2 hypertrophic cardiomyopathy a heart disorder MedGen
MYL3 hypertrophic cardiomyopathy a heart disorder MedGen
NF2 neurofibromatosis type 2 a disorder called neurofibromatosis MedGen
OTC ornithine carbamoyltransferase (OTC) deficiency a disorder called ornithine carbamoyltransferase (OTC) deficiency MedGen
PCSK9 familial hypercholesterolemia dangerously high cholesterol MedGen
PKP2 arrhythmogenic cardiomyopathy a heart disorder MedGen
PMS2 Lynch syndrome some types of cancers MedGen
PRKAG2 hypertrophic cardiomyopathy a heart disorder MedGen
PTEN PTEN hamartoma tumor syndrome some types of cancer MedGen
RB1 retinoblastoma some types of cancer MedGen
RET multiple endocrine neoplasia type 2 (MEN2) a disorder called multiple endocrine neoplasia (MEN2) MedGen MedGen
RYR1 malignant hyperthermia a disorder called malignant hyperthermia MedGen
RYR2 catecholaminergic polymorphic ventricular tachycardia a heart disorder MedGen
SCN5A Brugada syndrome and long QT syndrome 3 a heart disorder MedGen MedGen
SDHAF2 paragangliomas 2 some type of non-cancer growths MedGen
SDHB paragangliomas 4 some type of non-cancer growths MedGen
SDHC paragangliomas 3 some type of non-cancer growths MedGen
SDHD paragangliomas 1 some type of non-cancer growths MedGen
SMAD3 Loeys-Dietz syndrome a blood vessel disorder MedGen
SMAD4 juvenile polyposis syndrome some types of cancers MedGen
STK11 Peutz-Jeghers syndrome some types of cancers MedGen
TGFBR1 Loeys-Dietz syndrome a blood vessel disorder MedGen MedGen
TGFBR2 Loeys-Dietz syndrome a blood vessel disorder MedGen MedGen
TMEM43 arrhythmogenic cardiomyopathy a heart disorder MedGen
TNNI3 hypertrophic cardiomyopathy a heart disorder MedGen
TNNT2 dilated cardiomyopathy and hypertrophic cardiomyopathy a heart disorder MedGen
TP53 Li-Fraumeni syndrome some types of cancers MedGen
TPM1 hypertrophic cardiomyopathy a heart disorder MedGen
TSC1 tuberous sclerosis complex a disorder called tuberous sclerosis complex MedGen
TSC2 tuberous sclerosis complex a disorder called tuberous sclerosis complex MedGen
VHL von Hippel-Lindau syndrome some types of cancer MedGen
WT1 Wilms tumor a type of cancer called Wilms tumor MedGen

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