rs61752717
A SNP in the MEFV gene on chromosome 16. Its most notable genotype is C;C: familial mediterranean fever
- Gene
- MEFV
- Location
- Chr 163,243,407 (GRCh38)
- Highest magnitude
- 5.0Very important
- Tested on
- 23andMe, AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- T;TGoodcommon in clinvar
- C;TBadCarrier of a familial mediterranean fever mutation
- C;CMost notableBadfamilial mediterranean fever
SNPedia records rs61752717 on the minus strand: (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 MEFV SNPs
- i4000404T;TFamilial Mediterranean FeverVery important
- i4000406C;Cfamilial mediterranean feverVery important
- i4000410T;Tfamilial mediterranean feverVery important
- rs28940580C;GFamilial mediterranean fever (predicted)Very important
- rs61732874A;Afamilial mediterranean feverVery important
- rs104895093-;-Familial Mediterranean FeverVery important
- rs104895094C;CFamilial Mediterranean Fever, autosomal recessiveVery important
- rs104895097T;Tfamilial mediterranean feverVery important
Notes
From SNPedia
Show notes, about 120 words
rs61752717, also known as c.2080A>G, p.Met694Val or M694V, is a SNP in the MEFV gene. The minor (G) allele is considered pathogenic by numerous sources including ClinVar for Familial Mediterranean Fever (FMF) when inherited in two copies or as a compound heterozygote. rs61752717(G;G) individuals tend to have an earlier age of onset and higher frequencies of arthritis and arthralgia than persons carrying other pathogenic FMF variants. A significant association has lalso been identified between rs61752717(G) and the development of amyloidosis, especially in those who are homozygous for this pathogenic variant.,
C;T
Familial Mediterranean Fever mutation carrier; unaffected unless a second MEFV gene mutation is present.
Source and license
Adapted from rs61752717 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.