rs770815049
A SNP in the HSD3B2 gene on chromosome 1. Its most notable genotype is C;C: 3HSDB2 deficiency; congenital adrenal hyperplasia
- Gene
- HSD3B2
- Location
- Chr 1119,422,056 (GRCh38)
- Highest magnitude
- 7.0Very important
- Tested on
- Not on consumer chips
Genotypes
As shown in 23andMe and AncestryDNA files.
- -;-Goodcommon/normal
- -;CBadUnaffected carrier of a 3HSDB2 deficiency mutation
- C;CMost notableBad3HSDB2 deficiency; congenital adrenal hyperplasia
On SNPedia: (-;-), (-;C), (C;C). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Other HSD3B2 SNPs
- rs28934880A;A3HSDB2 deficiency; congenital adrenal hyperplasiaVery important
- rs80358216A;A3HSDB2 deficiency; congenital adrenal hyperplasiaVery important
- rs80358217T;T3HSDB2 deficiency; congenital adrenal hyperplasiaVery important
- rs80358218C;C3HSDB2 deficiency; congenital adrenal hyperplasiaVery important
- rs80358219A;A3HSDB2 deficiency; congenital adrenal hyperplasiaVery important
- rs80358220A;A3HSDB2 deficiency; congenital adrenal hyperplasiaVery important
- rs80358221T;T3HSDB2 deficiency; congenital adrenal hyperplasiaVery important
- rs121964896AA;AA3HSDB2 deficiency; congenital adrenal hyperplasiaVery important
Notes
From SNPedia
Notes
rs770815049, also known as c.555_556insC and p.Thr187Hisfs, represents a rare mutation in the HSD3B2 gene on chromosome 1.
-;C
see discussion at HSD3B2
C;C
see HSD3B2
Source and license
Adapted from rs770815049 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.