rs118203657
A SNP in the TSC1 gene on chromosome 9. Its most notable genotype is A;G: Classified as benign in ClinVar
- Gene
- TSC1
- Location
- Chr 9132,903,665 (GRCh38)
- Highest magnitude
- 1.0Minor
- Tested on
- AncestryDNA
- Minor allele frequency
- <1%
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- G;GGoodcommon in clinvar
- A;GMost notableGoodClassified as benign in ClinVar
- A;AGoodClassified as benign in ClinVar
SNPedia records rs118203657 on the minus strand: (C;C), (C;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Other TSC1 SNPs
- rs118203352G;TTuberous Sclerosis ComplexVery important
- rs118203360-;TCTuberous Sclerosis ComplexVery important
- rs118203387C;TTuberous Sclerosis ComplexVery important
- rs118203388G;TTuberous Sclerosis ComplexVery important
- rs118203396A;GTuberous Sclerosis ComplexVery important
- rs118203402C;GTuberous Sclerosis ComplexVery important
- rs118203423C;GTuberous Sclerosis ComplexVery important
- rs118203426A;CTuberous Sclerosis ComplexVery important
Notes
From SNPedia
Notes
Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis. Mutations in the TSC1 gene account for a minority of patients with tuberous sclerosis. Comprehensive mutational analysis of the TSC1 gene: observations on frequency of mutation, associated features, and nonpenetrance. Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation. Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/TSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutations.
Source and license
Adapted from rs118203657 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.