rs121909567

A SNP in the SERPINC1 gene on chromosome 1. Its most notable genotype is A;A: Antithrombin III deficiency

Gene
SERPINC1
Location
Chr 1173,914,570 (GRCh38)
Highest magnitude
6.0Very important
Tested on
AncestryDNA

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. G;GGoodcommon in clinvarTypical · 0.0
  2. A;GBadCarrier for an antithrombin III deficiency allele; affect unclearImportant · 3.0
  3. A;AMost notableBadAntithrombin III deficiencyVery important · 6.0

SNPedia records rs121909567 on the minus strand: (C;C), (C;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Conditions, medicines and genes

Other SERPINC1 SNPs

All SERPINC1 SNPs

Notes

From SNPedia

Notes

rs121909567, also known as c.391C>T, p.Leu131Phe and L131F, represents a rare mutation in the SERPINC1 gene on chromosome 1. Mutations in the SERPINC1 gene leading to antithrombin III deficiency are normally dominantly inherited, but rs121909567(T) may be a recessively inherited mutation, based on comments in both OMIM and .

A;G

see discussion at rs121909567

A;A

see discussion at rs121909567

Source and license

Adapted from rs121909567 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.