rs145588689
A SNP in the ADAR gene on chromosome 1. Its most notable genotype is C;C: Aicardi-Goutieres syndrome? (pathogenicity unclear)
- Gene
- ADAR
- Location
- Chr 1154,602,065 (GRCh38)
- Highest magnitude
- 8.0Very important
- Tested on
- 23andMe, AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- C;CMost notableBadAicardi-Goutieres syndrome? (pathogenicity unclear)
- C;GBadCarrier for Aicardi-Goutieres syndrome mutation
- G;GGoodcommon in clinvar
On SNPedia: (C;C), (C;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Notes
From SNPedia
Notes
rs145588689, also known as c.577C>G, p.Pro193Ala and P193A, represents a rare variant in the ADAR gene on chromosome 1. Inherited recessively, the rs145588689(C) allele - as designated in dbSNP orientation - is considered by BabySeq and most (but not all) submitters to ClinVar as likely to be pathogenic for Aicardi-Goutieres syndrome. It is also considered pathogenic by OMIM, but considered as a variant of uncertain significance by several other databases, including the ADAR gene LOVD.
C;C
see rs145588689
C;G
Unaffected in absence of another ADAR gene mutation; see rs145588689
Source and license
Adapted from rs145588689 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.