rs74435397

A SNP in the EMG1 gene on chromosome 12. Its most notable genotype is G;G: Bowen-Conradi syndrome (predicted)

Gene
EMG1
Location
Chr 126,974,427 (GRCh38)
Highest magnitude
9.0Very important
Tested on
AncestryDNA

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;AGoodcommon in clinvarTypical · 0.0
  2. A;GBadCarrier of a mutation for Bowen-Conradi syndromeImportant · 3.0
  3. G;GMost notableBadBowen-Conradi syndrome (predicted)Very important · 9.0

On SNPedia: (A;A), (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Conditions, medicines and genes

Notes

From SNPedia

Notes

rs74435397, also known as c.257A>G, p.Asp86Gly and D86G, represents a rare variant in the EMG1 gene located on chromosome 12. When inherited recessively (i.e. in two copies), the D86G mutation, represented as rs74435397(G), is the cause of Bowen-Conradi syndrome, a disorder observed primarily in Hutterite families, with an estimated birth prevalence of 1/355.

A;G

Unaffected in absence of another EMG1 gene mutation; see discussion and links via rs74435397.

G;G

see discussion and links via rs74435397

Source and license

Adapted from rs74435397 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.