rs1052030

A SNP in the MYO7A gene on chromosome 11. Its most notable genotype is A;T: Carrier of a mutation for deafness

Gene
MYO7A
Location
Chr 1177,142,737 (GRCh38)
Highest magnitude
3.0Important
Tested on
23andMe, AncestryDNA
Minor allele frequency
49%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;TMost notableBadCarrier of a mutation for deafnessImportant · 3.00% of people
  2. T;TGoodcommon in clinvarTypical · 0.024% of people

On SNPedia: (A;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Frequency

Share of each genotype in 10 HapMap populations.

  • AverageA;T 0% T;T 24%
  • European ancestry (Utah)A;T 0% T;T 54%
  • Han Chinese (Beijing)A;T 0% T;T 30%
  • Japanese (Tokyo)A;T 0% T;T 22%
  • Yoruba (Nigeria)A;T 0% T;T 2%
  • African ancestry (Southwest US)A;T 0% T;T 4%
  • Chinese (Denver)A;T 0% T;T 21%
  • Gujarati IndianA;T 0% T;T 28%
  • Luhya (Kenya)A;T 0% T;T 2%
  • Mexican ancestry (Los Angeles)A;T 0% T;T 44%
  • TuscanA;T 0% T;T 36%

Conditions, medicines and genes

Other MYO7A SNPs

All MYO7A SNPs

Notes

From SNPedia

Notes

aka c.47T>C (p.Leu16Ser) and also c.47T>A (p.Leu16Ter); the former is benign, while the latter is pathogenic for a recessive form of deafness (type 2, Usher syndrome) Susceptibility genes for gentamicin-induced vestibular dysfunction.

A;T

Unaffected in absence of a second mutation in the MYO7A gene; see links via main rs-page

Source and license

Adapted from rs1052030 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.