rs139889944
A SNP in the MYO7A gene on chromosome 11. Its most notable genotype is G;G: common in clinvar
- Gene
- MYO7A
- Location
- Chr 1177,199,771 (GRCh38)
- Highest magnitude
- 0.0Typical
- Tested on
- 23andMe, AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
On SNPedia: (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Other MYO7A SNPs
- rs111033290A;AUsher syndrome type 1 (predicted)Very important
- rs1052030A;TCarrier of a mutation for deafnessImportant
- rs111033415A;GCarrier of an Usher syndrome type 1B mutationImportant
- rs121965085C;TCarrier of an Usher syndrome type Ib mutationImportant
- rs368341987A;GProbably a benign variantWorth knowing
- rs948962C;Ccommon in clinvarTypical
Notes
From SNPedia
Show notes, about 140 words
aka c.4805G>A (p.Arg1602Gln or R1602Q) Annotated in ClinVar as likely to be benign, and in one population (East Asians) the frequency of the minor allele is above 0.04 (i.e. 4% or 1 in 25 alleles). Note that a 1998 publication indicated that the R1602Q variant was likely to be pathologic (for a recessive form of Usher syndrome including deafness). Additionally, nearly all predicted consequences are "deleterious", as shown in the Deafness Variation Database entry for this variant; that entry also states, though, that "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005", which is presumably why both this database and the (single) ClinVar submitter indicate it is likely to be benign. In addition, a survey of the most frequent Usher syndrome mutations in Chinese patients did not mention this variant..
Source and license
Adapted from rs139889944 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.