rs747650
A SNP in the C11orf49 gene on chromosome 11. Its most notable genotype is T;T: Low risk of acne occurences in Chinese Han population
- Gene
- C11orf49
- Location
- Chr 1147,154,454 (GRCh38)
- Highest magnitude
- 0.0Typical
- Tested on
- 23andMe, AncestryDNA, FamilyTreeDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- T;TMost notableGoodLow risk of acne occurences in Chinese Han population
- C;TBadHigher risk of acne occurrences in Chinese Han population
- C;CBadHigher risk of acne occurences in Chinese Han Population
SNPedia records rs747650 on the minus strand: (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.
- AverageT;T 21% C;T 43% C;C 36%
- European ancestry (Utah)T;T 8% C;T 45% C;C 47%
- Han Chinese (Beijing)T;T 44% C;T 42% C;C 14%
- Japanese (Tokyo)T;T 55% C;T 35% C;C 11%
- Yoruba (Nigeria)T;T 6% C;T 43% C;C 51%
- African ancestry (Southwest US)T;T 14% C;T 49% C;C 37%
- Chinese (Denver)T;T 53% C;T 38% C;C 10%
- Gujarati IndianT;T 6% C;T 38% C;C 56%
- Luhya (Kenya)T;T 9% C;T 51% C;C 40%
- Mexican ancestry (Los Angeles)T;T 16% C;T 45% C;C 40%
- Maasai (Kenya)T;T 13% C;T 44% C;C 43%
- TuscanT;T 6% C;T 43% C;C 51%
Related
Notes
From SNPedia
Show notes, about 290 words
rs747650 is a variant on chromosome 11p11.2 associated with acne. rs747650-G (reference major allele A, + strand) was identified as a risk allele associated with severe acne in a two-stage genome-wide association study with Han Chinese individuals by He et al. (PMID 24399259). An initial GWAS (1031 cases of severe acne and 1031 selected control subjects without acne) identified 101 SNPs with evidence of association (P<1x10^-4 or P<1x10^-2 located within/near nine candidate susceptibility genes) including rs747650 (p = 8.12x10^-5, OR 95% CI 1.14-1.47). These SNPs were further evaluated in an independent cohort (1860 cases and 3660 controls). The replication round identified 3 SNPs achieving genome-wide significance including rs747650 (p = 9.25x10^-6, OR 95% CI 1.12-1.33) with an overall combined P=4.41x10^-9 / OR 95% CI 1.16-1.34. No significant association for this SNP was found in a similar study in European individuals from the United Kingdom which was sufficiently powered for the reported effect size in the Han Chinese study. rs747650 is the lead SNP and is located within an intron of C11ORF49. It is unknown whether this variant has any causal influence on severe acne. One hypothesis is that rs747650 may be an eQTL involved in transcriptional regulation, based on ENCODE data indicating a peak density of DNAse hypersensitivity, histone marks and transcription factor ChIP overlapping this locus. He et al. speculates that a neighboring gene DDB2 is a potential candidate gene for acne susceptibility based on its implication in androgen metabolism and inflammation. References:
T;T
This genotype is associated with acne risk in Chinese Han {PMID|24399259}.
C;C
Higher risk of acne occurences in Chinese Han Population .
References
Source and license
Adapted from rs747650 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.