i5003264
A SNP in the CLCN1 gene on chromosome 7. Its most notable genotype is A;A: Myotonia congenita, Thomsen's disease
- Gene
- CLCN1
- Location
- Chr 7143,018,934 (GRCh38)
- Highest magnitude
- 5.0Very important
- Tested on
- 23andMe
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;AMost notableBadMyotonia congenita, Thomsen's disease
- A;GBadMyotonia congenita, Thomsen's disease
- G;GGoodnormal
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 CLCN1 SNPs
- i5003255T;TMyotonia congenita; quite variable in degreeVery important
- i5003257A;AMyotonia congenita; degree varies widelyVery important
- i5003258A;AMyotonia congenita; quite variable in degreeVery important
- rs55960271T;TMyotonia congenita; quite variable in degreeVery important
- rs80356684T;TMyotonia congenita; quite variable in degreeVery important
- rs80356687T;TMyotonia congenita; quite variable in degreeVery important
- rs80356688T;TMyotonia congenita; quite variable in degreeVery important
- rs80356692A;AMyotonia congenita; quite variable in degreeVery important
Notes
From SNPedia
Notes
Myotonia congenita rs80356700
A;A
Myotonia congenita
A;G
Myotonia congenita
Source and license
Adapted from i5003264 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.