rs587777149
A SNP in the CD59 gene on chromosome 11. Its most notable genotype is -;-: inherited CD59 deficiency
- Gene
- CD59
- Location
- Chr 1133,717,393 (GRCh38)
- Highest magnitude
- 8.0Very important
- Tested on
- AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- -;-Most notableBadinherited CD59 deficiency
- -;ABadunaffected carrier of an inherited CD59 deficiency allele
- T;TBadinherited C59 deficiency
- A;TBadunaffected carrier of an inherited C59 deficiency allele
- A;AGoodcommon in clinvar
SNPedia records rs587777149 on the minus strand: (-;-), (-;T), (A;A), (A;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Notes
From SNPedia
Show notes, about 190 words
rs587777149 is a SNP in the CD59 gene. Both a missense mutation and a deletion mutation have been observed at this SNP, and both are reported as recessive mutations. The deletion mutation was originally observed in a 7 month old baby with inherited CD59 deficiency, who went on to develop hemolytic anemia with progressive neurologic deterioration. She improved after treatment with the anti-C5 monoclonal antibody eculizumab. Her parents were both unaffected heterozygotes. See also OMIM 107271.0003 The missense mutation consists of a T>A change (plus strand orientation). This change was found in a multiplex family with strokes, chronic immune-mediated peripheral neuropathy, and hemolysis, all with onset in infancy. Heterozygotes were unaffected.
-;-
see discussion at rs587777149
-;A
see discussion at 587777149
T;T
See discussion at rs587777149; however, be aware of the potential that this is an error in orientation due to ambiguous flip issues. This is a very rare inherited disorder, with a very severe phenotype, and "true" rs587777149(A;A) patients will most likely have been diagnosed early in infancy.
A;T
see discussion at rs587777149
Source and license
Adapted from rs587777149 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.