rs5030737
A SNP in the MBL2 gene on chromosome 10. Its most notable genotype is A;A: mannose binding deficiency but of low clinical importance
- Gene
- MBL2
- Location
- Chr 1052,771,482 (GRCh38)
- Highest magnitude
- 1.6Minor
- Tested on
- 23andMe, AncestryDNA, FamilyTreeDNA
- Minor allele frequency
- 3%
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- G;GGoodcommon in clinvar
- A;GBadcarrier of mannose binding deficiency but of low clinical importance
- A;AMost notableBadmannose binding deficiency but of low clinical importance
SNPedia records rs5030737 on the minus strand: (C;C), (C;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Frequency
Share of each genotype in 10 HapMap populations.
- AverageG;G 94% A;G 6% A;A 0%
- European ancestry (Utah)G;G 86% A;G 14% A;A 0%
- Han Chinese (Beijing)G;G 99% A;G 2% A;A 0%
- Japanese (Tokyo)G;G 98% A;G 2% A;A 0%
- Yoruba (Nigeria)G;G 99% A;G <1% A;A 0%
- African ancestry (Southwest US)G;G 98% A;G 2% A;A 0%
- Gujarati IndianG;G 93% A;G 7% A;A 0%
- Luhya (Kenya)G;G 96% A;G 4% A;A 0%
- Mexican ancestry (Los Angeles)G;G 96% A;G 4% A;A 0%
- Maasai (Kenya)G;G 89% A;G 11% A;A 0%
- TuscanG;G 90% A;G 10% A;A 0%
Related
Source and license
Adapted from rs5030737 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.