rs6991

A SNP in the RPS17 gene on chromosome 15. Its most notable genotype is A;C: Diamond-Blackfan anemia, type 4 (predicted)

Gene
RPS17
Location
Chr 1582,538,982 (GRCh38)
Highest magnitude
6.0Very important
Tested on
AncestryDNA

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. G;GGoodnormalTypical · 0.0
  2. A;GGoodnormalTypical · 0.0
  3. A;CMost notableBadDiamond-Blackfan anemia, type 4 (predicted)Very important · 6.0
  4. A;AGoodcommon in clinvarTypical · 0.0

SNPedia records rs6991 on the minus strand: (C;C), (C;T), (G;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Conditions, medicines and genes

Notes

From SNPedia

Notes

As designated on the minus strand in dbSNP, the alleles C and T are normal/benign polymorphisms, whereas the rs6991(G) allele, also known as c.159T>G or p.Tyr53Ter, is a rare mutation associated with Diamond-Blackfan anemia, type 4, a dominantly inherited condition (or one arising from de novo mutation).

A;C

see rs6991

Source and license

Adapted from rs6991 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.