rs121908174
A SNP in the BBS2 gene on chromosome 16. Its most notable genotype is A;C: Carrier of a Bardet-Biedl syndrome type II mutation
- Gene
- BBS2
- Location
- Chr 1656,514,574 (GRCh38)
- Highest magnitude
- 3.0Important
- Tested on
- AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- A;CMost notableBadCarrier of a Bardet-Biedl syndrome type II mutation
- A;AGoodcommon in clinvar
SNPedia records rs121908174 on the minus strand: (G;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Notes
From SNPedia
Notes
aka c.224T>G (p.Val75Gly or V75G)
A;C
Unaffected in absence of a second BBS2 gene mutation
Source and license
Adapted from rs121908174 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.