rs61735045
A SNP in the COL5A1 gene on chromosome 9. Its most notable genotype is A;A: likely to be a benign variant
- Gene
- COL5A1
- Location
- Chr 9134,750,808 (GRCh38)
- Highest magnitude
- 1.1Minor
- Tested on
- 23andMe, AncestryDNA
- Minor allele frequency
- 3%
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;AMost notableGoodlikely to be a benign variant
- A;GGoodlikely to be a benign variant
- G;GGoodcommon in clinvar
On SNPedia: (A;A), (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other COL5A1 SNPs
- rs121912933C;TEhlers-Danlos Syndrome (EDS) classic typeVery important
- rs183495554A;TEhlers-Danlos Syndrome (EDS) classic typeVery important
- rs387906606C;TEhlers-Danlos Syndrome (EDS) classic typeVery important
- rs765079080G;TEhlers-Danlos Syndrome (EDS) classic typeVery important
- rs769752636G;TEhlers-Danlos Syndrome (EDS) classic typeVery important
- rs772445337A;GEhlers-Danlos Syndrome (EDS) classic typeVery important
- rs786200922G;TEhlers-Danlos Syndrome (EDS) classic typeVery important
- rs786200923-;GAGTEhlers-Danlos Syndrome (EDS) classic typeVery important
Notes
From SNPedia
Show notes, about 220 words
rs61735045, also known as c.1588G>A, p.Gly530Ser and G530S, is a variant in the COL5A1 gene on chromosome 9. Two papers published in 2000 and 2002 proposed that carrying one copy of an rs61735045(A) allele worsened symptoms of Ehlers-Danlos syndrome(EDS) in those who had it due to a causative mutation elsewhere, and that carrying two copies would cause EDS. More recent analyses have concluded that the rs61735045(A) allele is quite likely to actually be benign. A 2009 publication found that the frequency of the 530S allele was similar (about 5%) in all groups of people they studied, whether healthy or EDS-affected. Furthermore, the predicted homozygote minor frequency of 1 in 400 people is much higher than that of classical EDS. More recently, ExAC analysis shows an allele frequency of 3.5%, and a minor homozygote frequency of about 1 in 1000, which is still an order of magnitude or more higher than the estimated EDS incidence, incidating that either this allele is benign or the penetrance of even a double mutation is quite low. Additionally, as of 2014, two labs are reporting in ClinVar this variant as benign. In summary, the majority of current evidence indicates that the rs61735045 variant is likely to be benign.
A;A
see discussion at rs61735045
A;G
see discussion at rs61735045
Source and license
Adapted from rs61735045 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.