Clinical Annotations
PharmGKB clinical annotations provide information about variant-drug pairs based on a summary of the
individual variant annotations in the database. Therefore, each clinical annotation could represent
information from a single paper or multiple papers. The rating system used to assign "Strength of Evidence"
levels is described here. The
individual variant annotations, including the PMID for each supporting PubMed publication, can be found
on the "PGx Research" tab above.
This information is manually curated by PharmGKB. All alleles are displayed on the positive chromosomal strand.
-
Level of Evidence
- Level 3
- Type
- Metabolism/PK
- Variant
-
rs28399504
- Genes
- CYP2C19
- OMB Race
-
Unknown
PharmGKB variant annotations provide information about variant-drug pairs or variant-disease pairs based on
individual PubMed publications. Each annotation represents information from a single paper and the goal is to
report the information that the author states, not an interpretation of the paper. The PMID for supporting
PubMed publications is found in the "Evidence" field.
Information presented, including study size, allele frequencies and statistics is taken directly from the
publication. However, if the author does not correct p-values in cases of multiple hypotheses, curators
may apply a Bonferroni correction. Curators attempt to report study size based on the actual number of
participants used for the calculation of the association statistics, so the number may vary slightly
from what is reported in the abstract of the paper. OMB Race Category information is derived from the
paper and mapped to standardized categories. Category definitions may be found by clicking on the
"OMB Race Category" link.
List of all variant annotations for this variant.
Variant Overview
| PharmGKB Accession ID: |
PA166154177 |
| Type: |
SNP |
| Class: |
Missense |
| Clinical Significance: |
Not reported |
| Genes: |
CYP2C19
|
Primary Locus
Name:
[GRCh37]chr10:96522463
Location:
NC_000010.10 96522463 - 96522463
Alternate Locations
-
Name:
NP_000760.1:p.M1L,V
-
Name:
[GRCh38]chr10:94762706
Location:
NC_000010.11 94762706 - 94762706
Variant Frequencies
Population variation data is sourced from
HapMap 3.
Alternate Names
- NC_000010.10:g.96522463A>G
- NC_000010.11:g.94762706A>G
- NG_008384.2:g.5001A>G
- NM_000769.1:c.1A>G
- NM_000769.2:c.1A>G
- NP_000760.1:p.Met1Val
There is no VIP annotation for this variant
Related Publications
The following icons indicate that data of a certain type is available:
-
DG
Dosing Guideline information is available
-
DL
Drug Label information is available
-
CA
High-level Clinical Annotation is available
-
VA
Variant Annotation is available
-
VIP
VIP information is available
-
PW
Pathway is available
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