The term “carrier status” when applied to a genetic disease usually means looking at whether or not you are heterozygous (have one copy) for a mutation that causes a Mendelian genetic disease.
In general, these are the rare genetic diseases that you would need two copies of the mutation in order to have the disease.
Take cystic fibrosis as an example… the Cystic Fibrosis Foundation explains that “People with CF have inherited two copies of the defective CF gene — one copy from each parent. Both parents must have at least one copy of the defective gene. People with only one copy of the defective CF gene are called carriers, but they do not have the disease.”
Also, the information from studies that I’ve listed below could be inaccurate or have changed since the article was published. Research on genetics is ever evolving. Check and double-check before you do anything with the information below.
There are several different companies that do genetic testing and counseling if you are looking for information before having a baby.
It is also important to know that researchers are discovering new things all the time about rare genetic diseases, such as this Nature article that looked at over 500,000 people’s genes and found that there are people have that have a mutation for a genetic disease without symptoms. This is a fairly new science, and researchers are still making discoveries all the time.
So with all the caveats above, why even look into your carrier status for genetic diseases? If you have kids already, it may be important to let them know if they are possibly a carrier for a genetic disease. Others in your family may also be affected.
For most of the diseases listed below, being a carrier generally means you are not affected by the disease, but for some diseases, it is possible to be mildly affected. In general, when someone is heterozygous, the normal, healthy allele (version from one parent) can compensate for the allele (version from the other parent) that isn’t working. But take hemochromatosis as an example– it is possible for someone who is heterozygous to have health issues from excess iron absorption before they reach the point of diagnosis of hemochromatosis, such as when their liver fails.
For more information on inheritance, www.yourgenome.org has a nice explanation.
The list below is in no way complete and is for informational purposes only. 23andMe data only covers a small percentage (less than 1%) of your genome, and this is just a list of SNPs that I’ve compiled along the way. Some of these are also on the 23andMe health report (FDA approved) if you have purchased that, but there are several listed below that aren’t included in their reports. All of the information can also be found on SNPedia.com.
Thinking that it is not worth your time to look at rare diseases? If you consider that there are more than 7,000 rare diseases and that they affect 1 in 10 people in the US, it really isn’t out of the realm of possibility to be a carrier or affected by a rare disease. Learn more at Global Genes or the National Organization for Rare Disorders.
Genetic mutations, carrier status:
Note that all of the risk alleles are listed in the FWD orientation to match with your results on 23andMe or AncestryDNA. If you are using data from another source, you should check to see if it is all listed in the FWD orientation.
Members: Skip down to the section below this table to view your genotypes.
Condition | Gene | SNP | Risk Allele (fwd) | Notes/References |
Agenesis of the Corpus Callosum with Peripheral Neuropathy | SLC12A6 | i5012573 | D | rs515726215 more… |
Agenesis of the Corpus Callosum with Peripheral Neuropathy | SLC12A6 | i5012575 | A | |
Alpha-1 Antitrypsin Deficiency | SERPINA1 | rs17580 | A | Homozygous has 60% of normal enzyme function. More of a problem in conjunction with another variant. more… |
Alpha-1 Antitrypsin Deficiency | SERPINA1 | rs28929474 | T | Homozygous usually leads to severe alpha-1-antitrypsin deficiency. Heterozygous may also have an increased rate of lung or liver problems. more… |
Argininosuccinate lyase deficiency | ASL | rs28941472 | G | There is both a neonatal form and a late-onset form more… |
Argininosuccinate lyase deficiency | ASL | rs201523601 | T | |
Autosomal recessive spastic ataxia of Charlevoix-Saguenay | SA/CS | i5012578 | D | rs281865117, more… |
Autosomal Recessive Polycystic Kidney Disease | PKHD1 | i5000043 | G | rs200511261, (huge list) |
Autosomal Recessive Polycystic Kidney Disease | PKHD1 | i6016630 | T | rs794727819, classified as likely pathogenic |
Autosomal Recessive Polycystic Kidney Disease | PKHD1 | i5007345 | G | rs137852948 |
Autosomal Recessive Polycystic Kidney Disease | PKHD1 | i5000045 | G | rs760222236, i6016633 |
Autosomal Recessive Polycystic Kidney Disease | PKHD1 | i5000047 | C | rs369925690 |
Autosomal Recessive Polycystic Kidney Disease | PKHD1 | i5012610 | D | rs398124502 |
Autosomal Recessive Polycystic Kidney Disease | PKHD1 | i5000042 | G | rs137582950 |
Autosomal Recessive Polycystic Kidney Disease | PKHD1 | i5012612 | A | rs137852949 |
Autosomal Recessive Polycystic Kidney Disease | PKHD1 | rs28939383 | A | rs28939383 |
Beta Thalassemia | HBB | rs11549407 | A | Heterozygous variants can cause a milder form of the disease. more… |
Bardet-Biedl Syndrome | MKKS | rs28937875 | T | more… |
Bardet-Biedl Syndrome | BBS10 | rs148374859 | C | |
Bardet-Biedl Syndrome | BBS12 | rs121918327 | T | |
Bardet-Biedl Syndrome | BBS1 | rs113624356 | G | |
Bardet-Biedl Syndrome | BBS1 | rs35520756 | A | Though this one is listed as pathogenic, it is fairly common and looks to only add risk with other variants. |
Beta Thalassemia / Sickle Cell Anemia | HBB | i3003137 | A | rs334, homozygous A/A is pathogenic for sickle cell anemia, heterozygous leads to reduced risk of malaria |
Beta Thalassemia | HBB | rs33915217 | G | |
Beta Thalassemia | HBB | rs33944208 | T | |
Beta Thalassemia | HBB | rs33960103 | G | |
Beta Thalassemia | HBB | rs33971440 | T | |
Beta Thalassemia | HBB | rs33985472 | C | |
Beta Thalassemia | HBB | rs33986703 | G | |
Beta Thalassemia | HBB | rs34451549 | A | |
Beta Thalassemia | HBB | rs34598529 | C | |
Beta Thalassemia | HBB | rs34690599 | C | |
Beta Thalassemia | HBB | rs35004220 | T | |
Beta Thalassemia | HBB | rs35724775 | G | read more |
Beta Thalassemia | HBB | rs63750783 | T | |
Bloom’s Syndrome | BLM | i4000396 | I | rs113993962 |
Canavan Disease | ASPA | rs28940279 | C | read more |
Canavan Disease | ASPA | rs28940574 | A | |
Congenital Disorder of Glycosylation Type 1a | PMM2 | i5012679 | A | read more |
Congenital Disorder of Glycosylation Type 1d | PMM2 | rs28940588 | T | |
Congenital Disorder of Glycosylation Type 1a | PMM2 | i5012680 | A | rs28936415 |
Connexin 26-Related Nonsyndromic Sensorineural Hearing Loss | GJB2 | i4000434 | D | rs80338939 |
Connexin 26-Related Nonsyndromic Sensorineural Hearing Loss | GJB2 | rs72474224 | T | may cause only mild hearing loss in some populations |
Connexin 26-Related Nonsyndromic Sensorineural Hearing Loss | GJB2 | i4000435 | D | rs80338942 |
Cystic Fibrosis | CTFR | i3000001 | D | rs11399360, the most common cause of cystic fibrosis |
Cystic Fibrosis | CTFR | rs75961395 | A | more… |
Cystic Fibrosis | CTFR | rs78655421 | A | |
Cystic Fibrosis | CTFR | rs121909011 | T | |
Cystic Fibrosis | CTFR | i4000297 | A | |
Cystic Fibrosis | CTFR | i4000291 | A | |
Cystic Fibrosis | CTFR | i4000299 | T | |
Cystic Fibrosis | CTFR | rs113993959 | T | |
Cystic Fibrosis | CTFR | i4000301 | A | |
Cystic Fibrosis | CTFR | rs75527207 | A | i4000305 |
Cystic Fibrosis | CTFR | i4000306 | T | |
Cystic Fibrosis | CTFR | i4000307 | C | |
Cystic Fibrosis | CTFR | i4000308 | T | |
Cystic Fibrosis | CTFR | i4000309 | A | |
Cystic Fibrosis | CTFR | i4000311 | G | |
Cystic Fibrosis | CTFR | i4000313 | D | |
Cystic Fibrosis | CTFR | i4000314 | T | |
Cystic Fibrosis | CTFR | rs77188391 | T | i4000315 |
Cystic Fibrosis | CTFR | i4000316 | D | |
Cystic Fibrosis | CTFR | rs76713772 | A | i4000317 |
Cystic Fibrosis | CTFR | i4000318 | A | |
Cystic Fibrosis | CTFR | i4000319 | D | |
Cystic Fibrosis | CTFR | rs80224560 | A | i4000320 |
Cystic Fibrosis | CTFR | rs75096551 | A | i4000321 |
Cystic Fibrosis | C/TFR | i4000322 | D | |
Cystic Fibrosis | C/TFR | i4000323 | D | |
Cystic Fibrosis | C/TFR | i4000324 | I | |
Cystic Fibrosis | C/TFR | rs75039782 | T | i4000325 |
D-Bifunctional Protein Deficiency | HSD17B4 | i5007145 | A | Heterozygous carriers may also have problems with the breakdown of fatty acids. |
D-Bifunctional Protein Deficiency | HSD17B4 | i5007146 | T | |
Deglycosylation Disorder | NGLY1 | rs201337954 | A | |
Denys-Drash syndrome | WT1 | rs28941778 | T | |
Dihydrolipoamide Dehydrogenase Deficiency DLD | DLD | i5003700 | T | more… |
Factor VIII Deficiency – Hemophilia | F8 | rs28933681 | T | |
Factor VIII Deficiency – Hemophilia | F8 | rs28933679 | C | |
Factor IX – Hemophilia | F9 | i5007022 | G | Very rare (possibly extinct) form of Hemophilia |
Factor XI Deficiency – Hemophilia | F11 | i4000397 | A | |
Factor XI Deficiency – Hemophilia | F11 | rs121965063 | T | i4000398 |
Factor XI Deficiency – Hemophilia | F11 | rs121965064 | C | i4000399 |
Familial Dysautonomia | IKBKAP | rs111033171 | G | i4000334 |
Familial Dysautonomia | IKBKAP | i4000400 | G | |
Familial Hypercholesterolemia Type B | APOB | rs144467873 | A | i4000339 |
Familial Hypercholesterolemia Type B | APOB | rs12713559 | A | |
Familial Hypercholesterolemia Type B | APOB | rs5742904 | T | |
Fanconi Anemia | FANC/C | rs104886456 | A | i4000336 |
Fanconi Anemia | FANC/C | rs104886457 | A | i4000412 |
Fanconi Anemia | FANC/C | i4000413 | D | |
Gaucher Disease | GBA | rs421016 | G | |
Gaucher Disease | GBA | rs80356773 | T | i4000386 |
Gaucher Disease | GBA | i4000415 | C | rs76763715 |
Gaucher Disease | GBA | i4000417 | I | rs387906315 |
Gaucher Disease | GBA | i4000419 | A | rs80356769 |
Glutaric Aciduria | GCDH | rs121434369 | T | |
Glycogen Storage Disease Type 1a | G6PC | rs1801175 | T | i3002486 |
Gracile Syndrome | BCS1L | rs28937590 | G | i5012660 |
Hemochromatosis | HFE | rs1800562 | A | Known as C282Y. |
Hemochromatosis | HFE | rs1799945 | G | Known as H63D, can cause milder form of hemochromatosis or when combined with rs1800562 |
Hemochromatosis | HFE | rs1800730 | T | Known as s65C, possible causes milder form of hemochromatosis |
Hereditary Fructose Intolerance | ALDOB | i5012664 | C | rs78340951 |
Hereditary Fructose Intolerance | ALDOB | i5012665 | D | |
Hereditary Fructose Intolerance | ALDOB | rs76917243 | T | |
Hereditary Fructose Intolerance | ALDOB | rs1800546 | G | |
Kindler Syndrome | FERMT1 | rs121918293 | A | |
LAMB3-Related Junctional Epidermolysis Bullosa | LAMB3 | i5012669 | A | rs80356680 |
LAMB3-Related Junctional Epidermolysis Bullosa | LAMB3 | i5012671 | A | rs80356681 |
LAMB3-Related Junctional Epidermolysis Bullosa | LAMB3 | i5012672 | A | rs80356682 |
Limb-girdle Muscular Dystrophy | SGCA | rs28933693 | T | |
Limb-girdle Muscular Dystrophy | SGCB | rs28936383 | C | |
Limb-girdle Muscular Dystrophy | FKRP | rs28937900 | A | |
Maple Syrup Urine Disease Type 1B | BCDKDHB | i3002808 | C | more… |
Maple Syrup Urine Disease Type 1B | BCDKDHB | i4000422 | A | Known as G278S |
Medium-Chain Acyl-CoA Dehydrogenase Deficiency | ACADM | rs121434282 | C | i5003116 |
Medium-Chain Acyl-CoA Dehydrogenase Deficiency | ACADM | rs121434281 | T | i5003117 |
Medium-Chain Acyl-CoA Dehydrogenase Deficiency | ACADM | i5012755 | T | |
Medium-Chain Acyl-CoA Dehydrogenase Deficiency | ACADM | rs121434280 | C | |
Medium-Chain Acyl-CoA Dehydrogenase Deficiency | ACADM | rs77931234 | G | |
Medium-Chain Acyl-CoA Dehydrogenase Deficiency | ACADM | i5012760 | T | rs373712782 |
Medium-Chain Acyl-CoA Dehydrogenase Deficiency | ACADM | rs121434274 | A | |
Mucolipidosis IV | MCOLN1 | rs104886461 | G | i4000425 |
Mucolipidosis IIIa | GNPTAB | rs34159654 | C | pseudo-hurler polydystrophy |
Neuronal Ceroid Lipofuscinosis | CLN5 | i5012678 | D | rs386833969 |
Neuronal Ceroid Lipofuscinosis | PPT1 | i5012622 | G | more… |
Neuronal Ceroid Lipofuscinosis | PPT1 | rs137852695 | A | |
Neuronal Ceroid Lipofuscinosis | PPT1 | i5012624 | A | |
Niemann-Pick Disease Type A | i4000381 | C | more… | |
Niemann-Pick Disease Type A | i4000383 | D | ||
Niemann-Pick Disease Type A | rs120074117 | T | ||
Nijmegen Breakage Syndrome | NBN | i5012770 | D | |
Pendred Syndrome | SLC26A4 | rs121908362 | G | hearing loss |
Pendred Syndrome | SLC26A4 | rs111033244 | G | |
Pendred Syndrome | SLC26A4 | rs111033199 | T | |
Pendred Syndrome | SLC26A4 | i5000696 | G | |
Pendred Syndrome | SLC26A4 | i5012616 | C | |
Pendred Syndrome | SLC26A4 | i5012618 | C | |
Phenylketonuria | PAH | rs5030843 | A | more… |
Phenylketonuria | PAH | rs5030846 | T | |
Phenylketonuria | PAH | rs5030847 | A | |
Phenylketonuria | PAH | rs5030850 | A | |
Phenylketonuria | PAH | i3003401 | A | rs5030851 |
Phenylketonuria | PAH | rs5030856 | C | |
Phenylketonuria | PAH | rs5030859 | T | |
Phenylketonuria | PAH | rs5030860 | C | |
Phenylketonuria | PAH | i4000467 | A | |
Phenylketonuria | PAH | i4000470 | C | |
Phenylketonuria | PAH | rs75193786 | G | |
Phenylketonuria | PAH | rs76296470 | A | |
Phenylketonuria | PAH | rs62642932 | T | |
Phenylketonuria | PAH | rs62642933 | C | |
Phenylketonuria | PAH | rs62516092 | C | |
Phenylketonuria | PAH | rs62514953 | T | |
Phenylketonuria | PAH | i4000478 | T | |
Phenylketonuria | PAH | i4000479 | C | |
Phenylketonuria | PAH | rs62508588 | T | |
Phenylketonuria | PAH | rs28934899 | G | |
Phenylketonuria | PAH | rs5030841 | G | |
Phenylketonuria | PAH | rs5030849 | T | |
Phenylketonuria | PAH | rs5030852 | A | |
Phenylketonuria | PAH | rs5030853 | A | |
Phenylketonuria | PAH | rs5030855 | T | |
Phenylketonuria | PAH | rs5030857 | A | |
Phenylketonuria | PAH | rs5030858 | A | |
Phenylketonuria | PAH | rs5030861 | T | |
Primary Hyperoxaluria Type 2 | GRHPR | i5012628 | D | rs80356708 |
Primary Hyperoxaluria Type 3 | GRHPR | i5012629 | D | rs180177309 |
Rhizomelic Chondrodysplasia Punctata | PEX7 | rs61753238 | G | more… |
Rhizomelic Chondrodysplasia Punctata | PEX7 | rs1805137 | A | |
Salla Disease | SLC17A5 | i5012634 | A | |
Sjogren-Larsson Syndrome | ALDH3A2 | rs72547571 | T | |
Tay-Sachs Disease | HEXA | i4000391 | I | |
Tay-Sachs Disease | HEXA | rs147324677 | T | |
Tay-Sachs Disease | HEXA | rs121907954 | T | |
Tay-Sachs Disease | HEXA | rs76173977 | T | |
Torsion Dystonia | TOR1A | i4000446 | D | deltaE302 |
T/TR-Related Cardiac Amyloidosis | T/TR | rs76992529 | A | more… |
T/TR-Related Familial Amyloid Polyneuropathy | T/TR | i3002758 | A | rs28933979 |
T/TR-Related Familial Amyloid Polyneuropathy | T/TR | rs121918070 | G | |
Tyrosinemia Type I | FAH | rs80338899 | A | |
Tyrosinemia Type I | FAH | rs80338898 | T | |
Tyrosinemia Type I | FAH | i5012865 | A | |
Tyrosinemia Type I | FAH | i5012867 | T | |
Tyrosinemia Type I | FAH | rs121965075 | T |
Your genotypes for the above mutations:
Highlighted genotypes match with the risk allele, so just scroll through the list to see if anything is highlighted.
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