rs398123784

A SNP in the DYSF gene on chromosome 2. Its most notable genotype is -;-: Limb-girdle muscular dystrophy, type 2B

Gene
DYSF
Location
Chr 271,511,857 (GRCh38)
Highest magnitude
5.7Very important
Tested on
23andMe, AncestryDNA

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. -;-Most notableBadLimb-girdle muscular dystrophy, type 2BVery important · 5.7
  2. -;CCBadCarrier of a Limb-girdle muscular dystrophy, type 2B mutationImportant · 3.0
  3. CC;CCGoodcommon in clinvarTypical · 0.0
  4. D;INot ratedLikely miscall in DNA chip data; otherwise, Limb-girdle muscular dystrophy, type 2B mutation carrierTypical · 0.0

On SNPedia: (-;-), (-;CC), (CC;CC), (D;I). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Other DYSF SNPs

All DYSF SNPs

Notes

From SNPedia

Notes

rs398123784, also known as c.393_394delCC or p.Leu132Valfs, represents a rare mutation in the DYSF gene on chromosome 2. Inherited as an autosomal recessive, the minor allele of rs398123784 is reported in ClinVar to be pathogenic for limb-girdle muscular dystrophy, type 2B.

-;-

see rs398123784

-;CC

Unaffected in absence of another pathogenic DYSF gene mutation

D;I

This is likely to represent a miscall in data from microarrays (DNA chips as used by Ancestry, 23andMe, etc).

Source and license

Adapted from rs398123784 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.