rs137854566
A SNP in the NF1 gene on chromosome 17. Its most notable genotype is A;T: Neurofibromatosis type 1
- Gene
- NF1
- Location
- Chr 1731,229,146 (GRCh38)
- Highest magnitude
- 5.5Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;TMost notableBadNeurofibromatosis type 1
- C;TBadNeurofibromatosis type 1
- G;TBadNeurofibromatosis type 1
- T;TGoodcommon in clinvar
On SNPedia: (A;T), (C;T), (G;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
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
all possible mutations are known at this variant: c.2531T>A, c.2531T>C and c.2531T>G, also known as p.Leu844His, p.Leu844Pro and p.Leu844Arg, respectively, and all are considered pathogenic for neurofibromatosis type 1. see NF1
A;T
see NF1
C;T
see NF1
G;T
see NF1
Source and license
Adapted from rs137854566 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.