rs777948908
A SNP in the CDKN2A gene on chromosome 9. Its most notable genotype is C;G: Malignant melanoma predisposing mutation
- Gene
- CDKN2A
- Location
- Chr 921,974,722 (GRCh38)
- Highest magnitude
- 5.0Very important
- Tested on
- Not on consumer chips
Genotypes
As shown in 23andMe and AncestryDNA files.
On SNPedia: (C;C), (C;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other CDKN2A SNPs
- rs1800586A;CPancreatic cancer/Melanoma SyndromeVery important
- rs36204594G;TPancreatic cancer/Melanoma SyndromeVery important
- rs104894098A;TPancreatic cancer/Melanoma SyndromeVery important
- rs121913381A;CPancreatic cancer/Melanoma SyndromeVery important
- rs199907548A;CPancreatic cancer/Melanoma SyndromeVery important
- rs587782206-;TGGCPancreatic cancer/Melanoma SyndromeVery important
- rs730881672-;CTPancreatic cancer/Melanoma SyndromeVery important
- rs730881675-;ACCCGTGCACGACGPancreatic cancer/Melanoma SyndromeVery important
Notes
From SNPedia
Notes
rs777948908, also known as c.106G>C and Ala36Pro as named in papers, represents a rare mutation in the CDKN2A gene on chromosome 9. Note though that the mutation is named based on minus strand orientation, but in dbSNP, the RefSNP orientation is the plus strand, and to make this even more complex, the mutation reported in the paper cited below is the Ala36Pro (G>C) variant rather than the Ala36Ser (G>T) variant referenced in dbSNP. The rs777948908(G) allele - in plus strand orientation! - is 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.,
C;G
see rs777948908
Source and license
Adapted from rs777948908 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.