rs17319721

A SNP in the SHROOM3 gene on chromosome 4. Its most notable genotype is A;A: reported to have some negative associations with kidney function

Gene
SHROOM3
Location
Chr 476,447,694 (GRCh38)
Highest magnitude
1.5Minor
Tested on
23andMe, AncestryDNA
Minor allele frequency
28%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;AMost notableBadreported to have some negative associations with kidney functionMinor · 1.55% of people
  2. A;GBadreported to have some negative associations with kidney functionMinor · 1.532% of people
  3. G;GNot ratedCommon/NormalTypical · 0.063% of people

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

Frequency

Share of each genotype in 11 HapMap populations.

  • AverageA;A 5% A;G 32% G;G 63%
  • European ancestry (Utah)A;A 18% A;G 49% G;G 34%
  • Han Chinese (Beijing)A;A 4% A;G 23% G;G 73%
  • Japanese (Tokyo)A;A <1% A;G 17% G;G 82%
  • Yoruba (Nigeria)A;A 3% A;G 34% G;G 62%
  • African ancestry (Southwest US)A;A 2% A;G 39% G;G 60%
  • Chinese (Denver)A;A 0% A;G 17% G;G 84%
  • Gujarati IndianA;A 4% A;G 16% G;G 80%
  • Luhya (Kenya)A;A 2% A;G 28% G;G 71%
  • Mexican ancestry (Los Angeles)A;A 9% A;G 48% G;G 43%
  • Maasai (Kenya)A;A <1% A;G 37% G;G 62%
  • TuscanA;A 17% A;G 45% G;G 38%

Conditions, medicines and genes

Notes

From SNPedia

Show notes, about 140 words

rs17319721 is a SNP located in an intron of the SHROOM3 gene on chromosome 4, apparently in the middle of a transcription factor 7&#8211;like 2&#8211;dependent (TCF7L2-dependent) enhancer element. The rs17319721(A) allele is associated with increased SHROOM3 transcription, and this increased expression may explain both the preliminary reports that this SNP is associated with increased risk for chronic kidney disease (CKD) and with increased odds of kidney transplant rejection, when the (A) allele is present in the donor (allograft) kidney.

A;A

This genotype has been reported to roughly double the risk of kidney rejection in transplants if the donor kidney carries it.

A;G

Although it is a fairly common genotype in Caucasians, donor kidneys with this genotype appear to be rejected in transplant cases roughly twice as much as (G;G) donor kidneys.

Source and license

Adapted from rs17319721 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.