Reference

What every marker means

108 positions in the human genome, each with what it does, what every genotype means, how common each version is across ancestries, an evidence grade and a citation. All of it free and none of it behind an account.

Every coordinate and allele pair here was checked against Ensembl, and every direction of effect against protein consequences or population frequency rather than against memory. That check caught seven wrong coordinates and two variants where the reference genome carries what everyone calls the variant, which would have reported them backwards.

The body your ancestors’ world built

Why these variants differ between populations at all: the 38 positions where sunlight, malaria, farming, cold and crowding left the clearest mark, what changed underneath each one, and whether anybody actually knows why it spread. For many of them, nobody does.

By condition or trait

Type 2 diabetes

8 markers

Heart and cholesterol

8 markers

How you respond to medicines

17 markers

Caffeine and alcohol

5 markers

Skin, hair and sun

10 markers

Vitamin D

5 markers

Autoimmune conditions

8 markers

Blood and clotting

5 markers

Iron, B12 and folate

7 markers

Eyes

3 markers

Taste and smell

5 markers

Sleep and the body clock

3 markers

Weight and appetite

4 markers

Neanderthal and Denisovan DNA

7 markers

Pain and inflammation

8 markers

Smoking and lungs

4 markers

Kidney and gout

4 markers

Trait

Marker	Gene	What it affects	Evidence
rs4988235	MCM6	Digesting milk as an adult	established
rs17822931	ABCC11	Earwax type and underarm odour	established
rs1815739	ACTN3	Fast-twitch muscle protein	strong
rs12913832	HERC2	Eye colour	established
rs762551	CYP1A2	How fast you clear caffeine	moderate
rs671	ALDH2	Alcohol flush reaction	established
rs1426654	SLC24A5	One of the biggest switches for skin tone	established
rs12203592	IRF4	Freckles, and hair that darkens with age	established
rs2472297	between CYP1A1 and CYP1A2	How much coffee you actually drink	established
rs4680	COMT	COMT, the ‘warrior or worrier’ gene, and why that framing is wrong	moderate
rs72921001	OR6A2	Whether coriander tastes like soap	moderate
rs10427255	near ZEB2	Sneezing at bright light	moderate
rs4481887	near OR2M7	Smelling asparagus in urine	moderate
rs1726866	TAS2R38	Tasting bitterness in brassicas	established
rs10246939	TAS2R38	Bitter receptor, second position	established
rs1805007	MC1R	Red hair variant R151C	established
rs1805008	MC1R	Red hair variant R160W	established
rs601338	FUT2	Secretor status	established
rs3827760	EDAR	Hair thickness and shovel-shaped front teeth	established
rs28777	SLC45A2	The second big pigmentation switch	established
rs1393350	TYR	Freckling and sun sensitivity, second marker	strong
rs16969968	CHRNA5	How hard nicotine grips, if you smoke	established
rs53576	OXTR	OXTR, the ‘empathy gene’, and why we grade it as weak	preliminary
rs6265	BDNF	BDNF Val66Met	moderate
rs2802292	FOXO3	FOXO3, one of the few replicated longevity variants	moderate
rs1799971	OPRM1	Opioid receptor variant A118G	moderate
rs1229984	ADH1B	How fast alcohol becomes acetaldehyde	established

Health-adjacent

Marker	Gene	What it affects	Evidence
rs1800562	HFE	Iron overload, C282Y	established
rs1799945	HFE	Iron overload, H63D	established
rs6025	F5	Factor V Leiden	established
rs1799963	F2	Prothrombin G20210A	established
rs28929474	SERPINA1	Alpha-1 antitrypsin, Z allele	established
rs1801133	MTHFR	MTHFR C677T, and why it is oversold	established
rs2187668	HLA-DQA1	Coeliac disease risk type	strong
rs7903146	TCF7L2	Type 2 diabetes, the strongest common variant	established
rs4977574	CDKN2B-AS1	The 9p21 heart disease locus	established
rs3798220	LPA	Lipoprotein(a), the cholesterol nobody measures	established
rs1061170	CFH	Age-related macular degeneration, CFH	established
rs10490924	ARMS2	Age-related macular degeneration, second locus	established
rs73885319	APOL1	APOL1 and kidney disease	established
rs2282679	GC	Vitamin D binding protein	established
rs602662	FUT2	Vitamin B12 levels	strong
rs1801131	MTHFR	MTHFR A1298C	established
rs1421085	FTO	FTO, the body weight variant	established
rs17782313	near MC4R	MC4R, appetite regulation	established
rs334	HBB	Sickle cell	established

Medicine response

Marker	Gene	What it affects	Evidence
rs4244285	CYP2C19	CYP2C19 *2, loss of function	established
rs12248560	CYP2C19	CYP2C19 *17, increased function	established
rs4149056	SLCO1B1	Statin muscle side effects	established
rs1799853	CYP2C9	CYP2C9 *2	established
rs1057910	CYP2C9	CYP2C9 *3	established
rs9923231	VKORC1	Warfarin sensitivity, VKORC1	established
rs2395029	HCP5	Abacavir hypersensitivity marker	established
rs116855232	NUDT15	Thiopurine sensitivity, NUDT15	established
rs1142345	TPMT	Thiopurine sensitivity, TPMT *3C	established
rs12979860	IFNL4	Interferon response in hepatitis C	established
rs3892097	CYP2D6	CYP2D6 *4, the most common non-working version	established
rs1065852	CYP2D6	CYP2D6 *10, reduced function	established
rs776746	CYP3A5	CYP3A5 and tacrolimus dosing	established
rs2108622	CYP4F2	CYP4F2 and warfarin dose	established
rs2231142	ABCG2	ABCG2, statin response and uric acid	established
rs1050828	G6PD	G6PD deficiency, the A- variant	established

Population adaptation

Marker	Gene	What it affects	Evidence
rs1800414	OCA2	Lighter skin, the East Asian route	established
rs6058017	ASIP	The pigment switch that works in the opposite direction	strong
rs12785878	DHCR7	How much vitamin D your skin can make	established
rs10741657	CYP2R1	Turning vitamin D into the usable form	established
rs7041	GC	The vitamin D carrier protein, second marker	established
rs2228570	VDR	The vitamin D receptor, FokI	moderate
rs2814778	ACKR1	Duffy-null: the strongest population difference in the human genome	established
rs9264942	near HLA-C	How much HLA-C you display, and HIV control	strong
rs4833095	TLR1	How loudly your innate immune system shouts	strong
rs2476601	PTPN22	The autoimmunity variant that Europeans have and others do not	established
rs11209026	IL23R	A protective variant for Crohn's disease	established
rs2066844	NOD2	NOD2, the first Crohn's gene ever found	established
rs3184504	SH2B3	One variant, coeliac disease, blood pressure and defence against bacteria	established
rs9271366	near HLA-DRB1	The strongest genetic risk factor for multiple sclerosis	strong
rs174546	FADS1	Turning plant fats into the ones your brain runs on	established
rs13266634	SLC30A8	The zinc transporter inside insulin granules	established
rs7756992	CDKAL1	CDKAL1 and how much insulin you release	established
rs2237892	KCNQ1	The diabetes variant that Europe nearly missed	established
rs5219	KCNJ11	KCNJ11, the channel that sulfonylurea drugs act on	established
rs1800592	UCP1	Brown fat, the tissue that burns calories as heat	moderate
rs1799930	NAT2	Fast or slow acetylator	established
rs1695	GSTP1	One of the enzymes that mops up reactive chemicals	moderate
rs4880	SOD2	The antioxidant enzyme inside your mitochondria	moderate
rs662799	APOA5	Triglycerides, and how sharply they respond to diet	established
rs12740374	SORT1	SORT1, the LDL variant whose mechanism was actually solved	established
rs1799983	NOS3	The enzyme that tells blood vessels to relax	moderate
rs5186	AGTR1	The salt-and-water system, and why it now works against us	moderate
rs1801260	CLOCK	Morning or evening person	moderate
rs73598374	ADA	How deeply you sleep	moderate
rs1800497	ANKK1	Dopamine receptor density, the Taq1A variant	moderate
rs1051730	CHRNA3	How many cigarettes a day, if you smoke	established
rs1042713	ADRB2	The airway receptor that asthma inhalers act on	strong
rs734553	SLC2A9	Uric acid, and why humans keep so much of it	established
rs2228145	IL6R	The interleukin-6 receptor, and a drug target found by genetics	established
rs1205	CRP	Your baseline C-reactive protein	established
rs1800629	TNF	Tumour necrosis factor, the inflammation dial	moderate
rs1143634	IL1B	Interleukin-1 beta, the fever signal	moderate
rs1801394	MTRR	The other folate gene, MTRR	moderate

Archaic DNA

Marker	Gene	What it affects	Evidence
rs35044562	LZTFL1 region	Neanderthal: the chromosome 3 COVID risk haplotype	established
rs10490770	LZTFL1 region	Neanderthal: chromosome 3 haplotype, second marker	established
rs10774671	OAS1	Neanderthal: the antiviral version of OAS1	established
rs75493593	SLC16A11	Neanderthal: a diabetes risk variant carried into the Americas	established
rs3750904	SCN9A	Neanderthal: pain sensitivity, D1908G	strong
rs4369876	SCN9A	Neanderthal: pain sensitivity, V991L	strong
rs12478318	SCN9A	Neanderthal: pain sensitivity, M932L	strong
rs1042838	PGR	Neanderthal: the progesterone receptor	strong

By gene

96 genes.

Which versions do you have?

If you have taken a home DNA test, these positions are already in the file you were given. Reading them by hand means getting the DNA strand right for each one, which is where manual lookups go wrong.

Read my file