rs267606606
A SNP in the NF1 gene on chromosome 17. Its most notable genotype is -;AAT: Neurofibromatosis type 1
- Gene
- NF1
- Location
- Chr 1731,229,954 (GRCh38)
- Highest magnitude
- 5.5Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- -;AATMost notableBadNeurofibromatosis type 1
- AAT;AATGoodcommon in clinvar
On SNPedia: (-;AAT), (AAT;AAT). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other NF1 SNPs
- rs137854550A;GNeurofibromatosis type 1Very important
- rs137854551A;CNeurofibromatosis type 1Very important
- rs137854552C;TNeurofibromatosis type 1Very important
- rs137854553G;TNeurofibromatosis type 1Very important
- rs137854554A;TNeurofibromatosis type 1Very important
- rs137854555A;GNeurofibromatosis type 1Very important
- rs137854556A;GNeurofibromatosis type 1Very important
- rs137854558C;TNeurofibromatosis type 1Very important
Notes
From SNPedia
Notes
aka c.2970_2972delAAT (p.Met992del); pathogenic for neurofibromatosis type 1 rs267606606(-;AAT) individuals tend to present with a milder phenotype, having multiple CALMs with or without freckles, but no externally visible cutaneous or plexiform neurofibromas. see also NF1
Source and license
Adapted from rs267606606 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.