rs781999115

A SNP in the HYAL2 gene on chromosome 3. Its most notable genotype is A;A: Cleft lip and palate; possible heart abnormalities

Gene
HYAL2
Location
Chr 350,319,741 (GRCh38)
Highest magnitude
6.6Very important
Tested on
Not on consumer chips

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;AMost notableBadCleft lip and palate; possible heart abnormalitiesVery important · 6.6
  2. A;GBadCarrier of a cleft lip and palate mutationImportant · 3.0
  3. G;GGoodcommon/normalTypical · 0.0

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

Conditions, medicines and genes

Notes

From SNPedia

Show notes, about 130 words

rs781999115, also known as c.749C>T, p.Pro250Leu and P250L, represents a very rare variant in the HYAL2 gene on chromosome 3. Inherited as an autosomal recessive, rs781999115(A), as identified in dbSNP orientation, is reported as leading to cleft palate, also known as cleft lip and palate (CLP), with supporting functional evidence based on animal studies. In addition to bilateral cleft lip and palate, bilateral single palmer creases, lens opacities, staphyloma and myopia were observed, and in one case, an abnormal mitral valve. Another HYAL2 gene mutation was also uncovered, NM_003773.4:c.443A>G, however at this time it lacks a dbSNP rs-id.

A;A

see rs781999115

A;G

Unaffected in absence of another pathogenic HYAL2 mutation; see discussion at rs781999115

Source and license

Adapted from rs781999115 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.