rs137853097

A SNP in the HSD17B4 gene on chromosome 5. Its most notable genotype is T;T: DBP deficiency (predicted)

Gene
HSD17B4
Location
Chr 5119,509,176 (GRCh38)
Highest magnitude
7.0Very important
Tested on
AncestryDNA

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;AGoodcommon in clinvarTypical · 0.0
  2. A;TBadCarrier of a DBP deficiency mutationImportant · 3.0
  3. T;TMost notableBadDBP deficiency (predicted)Very important · 7.0

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

Other HSD17B4 SNPs

All HSD17B4 SNPs

Notes

From SNPedia

Notes

aka c.1369A>T (p.Asn457Tyr or N457Y), and also c.1369A>G (p.Asn457Asp or N457D); the former is considered in ClinVar to be pathogenic, the latter likely to be pathogenic 23andMe name for c.1369A>T: i5007146

A;T

Unaffected in absence of a second HSD17B4 gene mutation

T;T

see links via main rs-page

Source and license

Adapted from rs137853097 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.