rs121908179

A SNP in the BBS2 gene on chromosome 16. Its most notable genotype is G;T: Carrier of a retinitis pigmentosa/Bardet-Biedl syndrome mutation

Gene
BBS2
Location
Chr 1656,514,487 (GRCh38)
Highest magnitude
3.0Important
Tested on
AncestryDNA

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. T;TGoodcommon in clinvarTypical · 0.0
  2. G;TMost notableBadCarrier of a retinitis pigmentosa/Bardet-Biedl syndrome mutationImportant · 3.0

SNPedia records rs121908179 on the minus strand: (A;A), (A;C). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Other BBS2 SNPs

All BBS2 SNPs

Notes

From SNPedia

Notes

aka c.311A>C (p.Asp104Ala or D104A)

G;T

Unaffected in absence of a second BBS2 gene mutation

Source and license

Adapted from rs121908179 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.