rs1554810378 has not been reported to ClinVar. Refer to dbSNP record rs1554810378 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: A
- Variation alleles: C, G
- Variation type: single nucleotide variation
- Organism: Homo sapiens
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GRCh38.p14: NC_000009.12: 127,825,721
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GRCh37.p13: NC_000009.11: 130,588,000
Genome Data Viewer
Source: KnownItemSensor
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Hereditary hemorrhagic telangiectasia | |
| | | Single nucleotide variant (missense variant) | Telangiectasia, hereditary hemorrhagic, type 1 | |
Click to view in NCBI Gene