Populations:	`26`
Individuals:	`2,535`
Ancestry analyses:	`565,507,800`

Populations:	`130`
Individuals:	`278`
Ancestry analyses:	`6,800,992`

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Genealogical Estimation of Variant Age (GEVA)

Inference of the ancestral origin of a genetic variant at a single locus

rs4988235

Alleles:

reference

ancestral

alternate

derived

Age estimated for the alternate allele, assuming that it was derived from the reference allele as the ancestral state.

How was the ancestral/derived state determined?Chromosome 2 position 136,608,646 (GRCh37)

Explore rs4988235 on Ensembl!

ShowHide allele frequencies

Allele frequency in TGP ⇪

Sample	`83.9%`		`16.1%`
`AFR`	`97.3%`		`2.7%`
`AMR`	`78.4%`		`21.6%`
`EAS`	`100.0%`		`0.0%`
`EUR`	`49.2%`		`50.8%`
`SAS`	`88.7%`		`11.3%`
	reference	← allele frequency →	alternate

Allele frequency in SGDP ⇪

Sample	`90.5%`		`9.5%`
`AFR`	`96.6%`		`3.4%`
`AMR`	`100.0%`		`0.0%`
`CAS`	`90.7%`		`9.3%`
`EAS`	`100.0%`		`0.0%`
`OCN`	`96.0%`		`4.0%`
`SAS`	`86.8%`		`13.2%`
`WEA`	`78.0%`		`22.0%`
	reference	← allele frequency →	alternate

Select clock model

Mutation clock

Recombination clock

Joint clock

Age estimation summary Recombination clock

Data source	Mode	Mean	Median	95% confidence interval	# pairs	Quality score
Genomes in TGP	576.1	578.5	577.4	529.1 – 630.2	1000	`0.856`
Genomes in SGDP	728.9	735.1	733.4	659.7 – 815.2	1000	`0.938`
Combined	584.4	587.7	586.9	548.3 – 628.4	2000	`0.910`
	in units of generations

Age estimation profile Recombination clock How to interpret this figure?

Click on pairwise TMRCA result to see the shared ancestry of the genome pair.

TMRCA filtering applies to the pairs shown. Click to display pairs from TGP SGDP

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This feature is experimental! It is only provided to illustrate plausible variations in time scales. Note that pairwise TMRCA and allele age were estimated on the basis of shared haplotype segments that were previously inferred using a hidden Markov model (HMM), for which the default parameters were used. Any changes made here will only affect the scaling of TMRCA, but not allele age, which is displayed without change.

View as table

Data shown in this figure can be downloaded from this page.

TMRCA	Time to the most recent common ancestor; inferred from genetic information observed locally (around the focal genomic position) at the haplotype segment shared between a pair of genomes.
Allele age	Time of the mutation event that gave rise to the focal allele; estimated from the distributions of pairwise TMRCA inferred for concordant and discordant pairs.
Concordant pair	A pair of haplotypes (i.e. genomes) which both carry the focal allele. Concordant pairs are expected to share a most recent common ancestor more recently than the time of the focal mutation event.
Discordant pair	A pair of haplotypes (i.e. genomes) where one carries the focal allele and the other does not. Discordant pairs are expected to share a most recent common ancestor further back in time than the time of the focal mutation event.