rs137854523

A SNP in the ANO5 gene on chromosome 11. Its most notable genotype is G;T: Carrier of a limb-girdle muscular dystrophy mutation

Gene
ANO5
Location
Chr 1122,236,206 (GRCh38)
Highest magnitude
3.0Important
Tested on
23andMe, AncestryDNA
Minor allele frequency
<1%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. G;GGoodcommon in clinvarTypical · 0.0
  2. G;TMost notableBadCarrier of a limb-girdle muscular dystrophy mutationImportant · 3.0

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

Other ANO5 SNPs

All ANO5 SNPs

Notes

From SNPedia

Notes

Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies.

G;T

Unaffected in absence of a second mutation in the ANO5 gene; see links via main rs-page.

Source and license

Adapted from rs137854523 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.