rs397516793
A SNP in the MAP2K1 gene on chromosome 15. Its most notable genotype is C;T: Rasopathy; Cardio-facio-cutaneous syndrome
- Gene
- MAP2K1
- Location
- Chr 1566,436,842 (GRCh38)
- Highest magnitude
- 7.0Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- C;TMost notableBadRasopathy; Cardio-facio-cutaneous syndrome
- T;TGoodcommon in clinvar
On SNPedia: (C;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Other MAP2K1 SNPs
- rs121908594C;TRasopathy; Cardio-facio-cutaneous syndromeVery important
- rs121908595A;GRasopathy; Cardio-facio-cutaneous syndromeVery important
- rs397516790A;CRasopathy; Cardio-facio-cutaneous syndromeVery important
- rs397516791G;TRasopathy; Cardio-facio-cutaneous syndromeVery important
- rs727504317A;GRasopathy; Cardio-facio-cutaneous syndromeVery important
Notes
From SNPedia
Notes
aka c.388T>C (p.Tyr130His)
C;T
See links via main rs-page
Source and license
Adapted from rs397516793 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.