rs397515633

A SNP in the PDGFB gene on chromosome 22. Its most notable genotype is A;G: Idiopathic basal ganglia calcification-5

Gene
PDGFB
Location
Chr 2239,231,633 (GRCh38)
Highest magnitude
5.8Very important
Tested on
Not on consumer chips

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. G;GGoodcommon in clinvarTypical · 0.0
  2. A;GMost notableBadIdiopathic basal ganglia calcification-5Very important · 5.8

SNPedia records rs397515633 on the minus strand: (C;C), (C;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Notes

From SNPedia

Notes

aka c.445C>T (p.Arg149Ter, R149X or R149*) Considered "definitely pathogenic" in the Movement Disorder Society Genetic mutation database (MDSGene) for autosomal dominant idiopathic basal ganglia calcification-5 See also OMIM 190040.0006

A;G

see text and links via main rs-page

Source and license

Adapted from rs397515633 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.