rs730881673

A SNP in the CDKN2A gene on chromosome 9. Its most notable genotype is -;T: Malignant melanoma predisposing mutation

Gene
CDKN2A
Location
Chr 921,974,696 (GRCh38)
Highest magnitude
5.0Very important
Tested on
AncestryDNA

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. -;-Goodcommon in clinvarTypical · 0.0
  2. -;TMost notableBadMalignant melanoma predisposing mutationVery important · 5.0
  3. -;AABadMalignant melanoma predisposing mutationVery important · 5.0
  4. -;ACBadMalignant melanoma predisposing mutationVery important · 5.0
  5. G;GGoodcommon in clinvarTypical · 0.0

SNPedia records rs730881673 on the minus strand: (-;-), (-;A), (-;AA), (-;AC), (C;C). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Conditions, medicines and genes

Other CDKN2A SNPs

All CDKN2A SNPs

Notes

From SNPedia

Notes

rs730881673, also known as c.131_132insAA or p.Tyr44Terfs, represents a rare mutation in the CDKN2A gene on chromosome 9. The rs730881673(insA), (insAA) and (insAC) alleles are all considered pathogenic in a dominant manner for malignant melanoma, based on sources in ClinVar and elsewhere. CDKN2A mutations may also predispose to other types of cancer.,

-;T

see rs730881673

-;AA

see rs730881673

-;AC

see rs730881673

Source and license

Adapted from rs730881673 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.