rs104894299

A SNP in the RAPSN gene on chromosome 11. Its most notable genotype is T;T: Congenital myasthenic syndrome

Gene
RAPSN
Location
Chr 1147,448,079 (GRCh38)
Highest magnitude
6.0Very important
Tested on
23andMe, AncestryDNA
Minor allele frequency
<1%

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. T;TMost notableBadCongenital myasthenic syndromeVery important · 6.0
  2. G;TBadcarrier of one Myasthenic syndrome alleleImportant · 3.0
  3. G;GGoodcommon in clinvarTypical · 0.0

SNPedia records rs104894299 on the minus strand: (A;A), (A;C), (C;C). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Other RAPSN SNPs

All RAPSN SNPs

Notes

From SNPedia

Notes

rs104894299, also known as c.264C>A, p.Asn88Lys and N88K, is a mutation in the RAPSN gene on chromosome 11. The minor allele, rs104894299(A), is very rare, observed only 192 times out of 120660 alleles in ExAC, without any (minor) homozygotes, and a MAF of just 0.001591. The N88K mutation is the most common one leading, when inherited recessively, to congenital myasthenic syndrome. For more information, see OMIM 601592.0001.

T;T

see discussion at rs104894299

G;T

see discussion at rs104894299

Source and license

Adapted from rs104894299 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.