rs201779890
A SNP in the RBM8A gene on chromosome 1. Its most notable genotype is C;C: thrombocytopenia-absent radius syndrome
- Gene
- RBM8A
- Location
- Chr 1145,927,328 (GRCh38)
- Highest magnitude
- 8.0Very important
- Tested on
- 23andMe, AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- C;CMost notableBadthrombocytopenia-absent radius syndrome
- C;GBadCarrier of a mutation for thrombocytopenia-absent radius syndrome
- G;GGoodcommon in clinvar
On SNPedia: (C;C), (C;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Notes
From SNPedia
Notes
rs201779890, also known as c.67+32G>C, represents a relatively rare (~1 in 200 alleles) mutation in the RBM8A gene on chromosome 1. The minor allele is reported in ClinVar (as well as BabySeq) as a recessively inherited pathogenic mutation leading to thrombocytopenia-absent radius syndrome (TAR). Based on OMIM, most cases of TAR are caused by carrying a rare null (large deletion allele) on one chromosome 1 and either rs201779890(C) or rs139428292(A) on the other.
C;C
see rs201779890
C;G
Unaffected in absence of another pathogenic mutation in the RBM8A gene; see rs201779890
Source and license
Adapted from rs201779890 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.