rs796053248 has not been reported to ClinVar. Refer to dbSNP record rs796053248 for details on variation at this location. Please consider submitting your interpretation of this variant to ClinVar
Genetic variation
- Clinical significance: not reported in ClinVar
- Reference allele: G
- Variation alleles: A, T
- Variation type: single nucleotide variation
- Organism: Homo sapiens
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GRCh38.p14: NC_000001.11: 42,929,884
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GRCh37.p13: NC_000001.10: 43,395,555
Genome Data Viewer
Source: KnownItemSensor
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant) | GLUT1 deficiency syndrome 1, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Hereditary cryohydrocytosis with reduced stomatin +6 more | |
Click to view in NCBI Gene