rs113624356

A SNP in the BBS1 gene on chromosome 11. Its most notable genotype is G;G: Bardet-Biedl syndrome 1 (reported)

Gene
BBS1
Location
Chr 1166,526,181 (GRCh38)
Highest magnitude
5.0Very important
Tested on
23andMe, AncestryDNA
Minor allele frequency
<1%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. G;GMost notableBadBardet-Biedl syndrome 1 (reported)Very important · 5.0
  2. G;TBadCarrier of a Bardet-Biedl syndrome 1 mutationImportant · 3.0
  3. T;TGoodcommon in clinvarTypical · 0.0

On SNPedia: (G;G), (G;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Other BBS1 SNPs

All BBS1 SNPs

Notes

From SNPedia

Notes

aka c.1169T>G (p.Met390Arg or M390R) see also: OMIM 209901.0001

G;G

see text and links via main rs-page

G;T

Unaffected in absence of a second BBS1 gene mutation

Source and license

Adapted from rs113624356 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.