Checking Your Carrier Status for Genetic Diseases

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.”

A word of caution before you go any further! While genetic information from 23andMe or a similar DNA test is generally accurate, always re-confirm with a clinical test before making a major health decision. Your results on these variants could be a false positive or a false negative.

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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Genetic mutations, carrier status:

Your genotypes for the above mutations:

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