OMOP Concept 19554816
ABI1 on GRCh38 chr10: Substitution in position 26759146 of C replaced by A measurement
StandardMeasurementOMOP GenomicOMOP5466472Gene DNA Variant
Maps from
0
Descendants
2
Valid from
26 Feb 2024
Valid to
31 Dec 2099
OMOP concepts
Concept Lookup Tool
Search 11M+ concepts across SNOMED, RxNorm, ICD-10 & LOINC.
Synonyms
Alternative names recorded for ABI1 on GRCh38 chr10: Substitution in position 26759146 of C replaced by A measurement across source vocabularies.
- NC_000010.10:g.27048075C>A
- NC_000010.11:g.26759146C>A
- NC_000010.9:g.27088081C>A
- NG_030025.1:g.106942G>T
- NM_001012750.3(ABI1):c.913G>T (p.Gly305Ter)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(1)Roll up to these when you need a wider cohort.
Narrower concepts
(2)Included automatically when you query with descendants.
Get this concept via the API
Resolve ABI1 on GRCh38 chr10: Substitution in position 26759146 of C replaced by A measurement - and every code that maps to it - over HTTPS, against the current vocabulary release. No downloads, no local database.
curl "https://api.omophub.com/v1/concepts/19554816?include_relationships=true" \
-H "Authorization: Bearer $OMOPHUB_API_KEY"Get your free API key3,000 calls/month free · no credit card