rs587776596
A SNP in the MFRP gene on chromosome 11. Its most notable genotype is -;G: Carrier of a microphthalmia mutation
- Gene
- MFRP
- Location
- Chr 11119,345,563 (GRCh38)
- Highest magnitude
- 3.0Important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- -;GMost notableBadCarrier of a microphthalmia mutation
- D;DNot ratedIf from Ancestry DNA, likely to be a miscall
- D;INot ratedIf from Ancestry DNA, likely to be a miscall
- G;GGoodcommon in clinvar
On SNPedia: (-;G), (D;D), (D;I), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Notes
From SNPedia
Show notes, about 120 words
rs587776596, also known as c.498delC and p.Asn167Thrfs, represents a very rare mutation in the MFRP/C1QTNF5 gene on chromosome 11. The minor allele frequency is perhaps 1 in 10,000, and it is reported to be pathogenic for autosomally recessively inherited microphthalmia in ClinVar and OMIM. Note that this variant appears to be miscalled often on Ancestry v2 chips.
-;G
Unaffected in absence of another MFRP mutation; see discussion at rs587776596.
D;D
Users with raw data from Ancestry.com have an overly high rate of miscalls for this genotype. If your data is not from Ancestry.com, please contact us.
D;I
Users with raw data from Ancestry.com have an overly high rate of miscalls for this genotype. If your data is not from Ancestry.com, please contact us.
Source and license
Adapted from rs587776596 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.
SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.