rs387907301
A SNP in the XIAP gene on chromosome X. Its most notable genotype is A;A: X-linked lymphoproliferative syndrome
- Gene
- XIAP
- Location
- Chr X123,886,270 (GRCh38)
- Highest magnitude
- 7.0Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;AMost notableBadX-linked lymphoproliferative syndrome
- A;GBadCarrier of an allele for X-linked lymphoproliferative syndrome
- G;GGoodcommon in clinvar
On SNPedia: (A;A), (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Notes
From SNPedia
Notes
rs387907301, also known as c.608G>A, p.Cys203Tyr and C203Y, represents a rare mutation in the XIAP gene on the X chromosome. First published in 2011 based on the discovery in a young boy with symptoms of inflammatory bowel disease, the 387907301(A) allele is now considered causative for X-linked lymphoproliferative syndrome when inherited in a male, and presumably if homozygous (or compound heterozygous) in a female. As one of the first successes of exome sequencing, the diagnostic and therapeutic odyssey of this boy, Nicholas (Nic) Volker, has been described in numerous publications, including the book "One in a Billion".
A;A
see discussion at rs387907301
A;G
see discussion at rs387907301
Source and license
Adapted from rs387907301 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.