Search for variant ID, refSNP ID, gene symbol or genomic location (GRCh38). E.g: X-128598575-A-AGT (chr-pos-ref-alt).
Deletion: X-128598575-AGTGT-A
| Location (GRCh38) | chrX:128598575-128598579 |
|---|---|
| Allele Count | 433 |
| Allele Frequency | 0.154 |
| gnomAD browser | Search in gnomAD |
| dbSNP ID | rs35451691 |
| Gene symbol | AL008633.1 |
| Ensembl gene ID | ENSG00000225689 |
| Ensembl transcript ID | ENST00000657074 |
| HGVSc | ENST00000657074.1:n.3195+1732_3195+1735del |
| Variant class | deletion |
| Primary consequence | intron_variant&non_coding_transcript_variant |
| Variant ID | Count | Frequency |
|---|---|---|
| X-128598575-A-AGT | 64 | 0.025 |
| X-128598575-AGT-A | 738 | 0.272 |
| X-128598575-AGTGTGT-A | 504 | 0.181 |
| X-128598575-AGTGTGTGT-A | 115 | 0.047 |
| X-128598575-AGTGTGTGTGT-A | 600 | 0.218 |
Pharmacogenetics in Norway
Here are the haplotype frequencies and predicted activities of 15 very important pharmacogenetic genes and their distribution in Norway. These genes are CYP1A2, CYP2A6, CYP2A13, CYP2B6, CYP2C8, CYP2C9, CYP2C19, CYP2D6, CYP3A4, CYP4F2, DPYD, NAT2, NUDT15, SLCO1B1, TPMT.
The haplotype calling has been conducted using the program Aldy4 [Hari et al., 2023] and annotations from PharmGKB and PharmVar used to calculate activity. Activity means the sum of the activity of the two alleles, where normal activity is scored = 1, decreased = 0.5, increased = 1.5 and no activity = 0. A normal diploid genotype is thus scored 2.
Individual alleles can be downloaded here: download calls and their cognate activities here: download activity
About this site
This site is set up to serve as a national, anonymous database, covering sequence variant frequencies of the Norwegian population according to the Commissioner’s documents in 2017, from the Norwegian Ministry of Health and Care Services to the Regional Health Authorities.
The site currently contains variant frequency data, dataset v1.1, for a total of 2855 unrelated individuals from the following two sources: a whole genome sample set of variation derived from 1366 biobanked individuals with self-reported overrepresentation of cancer in the family. A further set of 1489 samples is also included, containing sequence variation that has been examined in the context of genetic counseling for various diseases. Thus, the current data set is likely to contain some biases in this context.
The data will be under continuous revision, both for quality and quantity, to achieve a broad, national representation. The data are available as is, with no warranties, implied or expressed. Functionality will be updated and improved over time. The current reference version of the genome is GRCh38.
The site is intended as a look-up service for the health care services, and is not intended for bulk download.