rs193922393

A SNP in the STAR gene on chromosome 8. Its most notable genotype is -;-: Lipoid congenital adrenal hyperplasia (LCAH); treatment required

Gene
STAR
Location
Chr 838,148,684 (GRCh38)
Highest magnitude
9.1Very important
Tested on
AncestryDNA

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. -;-Most notableBadLipoid congenital adrenal hyperplasia (LCAH); treatment requiredVery important · 9.1
  2. -;ABadCarrier of a mutation for lipoid congenital adrenal hyperplasia (LCAH)Important · 3.0
  3. A;AGoodcommon in clinvarTypical · 0.0

SNPedia records rs193922393 on the minus strand: (-;-), (-;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Notes

From SNPedia

Notes

Spontaneous feminization in a 46,XX female patient with congenital lipoid adrenal hyperplasia due to a homozygous frameshift mutation in the steroidogenic acute regulatory protein. Congenital adrenal hyperplasia: molecular genetics and alternative approaches to treatment.

-;-

Lipoid congenital adrenal hyperplasia (LCAH) is considered to be potentially life-threatening unless treated in early infancy; see links at STAR gene and via ClinVar.

-;A

Unaffected in absence of a second mutation in the STAR gene; see STAR gene for discussion and ClinVar links.

Source and license

Adapted from rs193922393 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.