rs104894139
A SNP in the CYP17A1 gene on chromosome 10. Its most notable genotype is C;T: Carrier of an isolated 17,20-lyase deficiency mutation
- Gene
- CYP17A1
- Location
- Chr 10102,832,577 (GRCh38)
- Highest magnitude
- 3.0Important
- Tested on
- AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- C;TMost notableBadCarrier of an isolated 17,20-lyase deficiency mutation
- C;CGoodcommon in clinvar
SNPedia records rs104894139 on the minus strand: (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Other CYP17A1 SNPs
- rs104894135G;GComplete combined 17-alpha-hydroxylase/17,20-lyase deficiencyVery important
- rs104894138A;AComplete combined 17-alpha-hydroxylase/17,20-lyase deficiencyVery important
- rs104894141T;TComplete combined 17-alpha-hydroxylase/17,20-lyase deficiencyVery important
- rs104894142A;AComplete combined 17-alpha-hydroxylase/17,20-lyase deficiencyVery important
- rs104894143G;GComplete combined 17-alpha-hydroxylase/17,20-lyase deficiencyVery important
- rs104894144C;CComplete combined 17-alpha-hydroxylase/17,20-lyase deficiencyVery important
- rs104894145A;AComplete combined 17-alpha-hydroxylase/17,20-lyase deficiencyVery important
- rs104894146C;CComplete combined 17-alpha-hydroxylase/17,20-lyase deficiencyVery important
Notes
From SNPedia
Notes
c.1073G>A (p.Arg358Gln) 23andMe name: i5001491
C;T
Unaffected in absence of a second mutation in the CYP17A1 gene
Source and license
Adapted from rs104894139 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.