dbSNP Short Genetic Variations
Welcome to the Reference SNP (rs) Report
All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.
Reference SNP (rs) Report
This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.
rs1475745784
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr8:129841314 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
- Alleles
- G>A
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
A=0.000015 (4/264690, TOPMED)A=0.000014 (2/140158, GnomAD)A=0.00000 (0/14050, ALFA)
- Clinical Significance
- Not Reported in ClinVar
- Gene : Consequence
- CYRIB : 3 Prime UTR Variant
- Publications
- 0 citations
- Genomic View
- See rs on genome
ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.
Release Version: 20231103111315
| Population | Group | Sample Size | Ref Allele | Alt Allele | Ref HMOZ | Alt HMOZ | HTRZ | HWEP |
|---|---|---|---|---|---|---|---|---|
| Total | Global | 14050 | G=1.00000 | A=0.00000 | 1.0 | 0.0 | 0.0 | N/A |
| European | Sub | 9690 | G=1.0000 | A=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| African | Sub | 2898 | G=1.0000 | A=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| African Others | Sub | 114 | G=1.000 | A=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| African American | Sub | 2784 | G=1.0000 | A=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| Asian | Sub | 112 | G=1.000 | A=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| East Asian | Sub | 86 | G=1.00 | A=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Other Asian | Sub | 26 | G=1.00 | A=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Latin American 1 | Sub | 146 | G=1.000 | A=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| Latin American 2 | Sub | 610 | G=1.000 | A=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| South Asian | Sub | 98 | G=1.00 | A=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Other | Sub | 496 | G=1.000 | A=0.000 | 1.0 | 0.0 | 0.0 | N/A |
Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").
Download| Study | Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|---|
| TopMed | Global | Study-wide | 264690 | G=0.999985 | A=0.000015 |
| gnomAD - Genomes | Global | Study-wide | 140158 | G=0.999986 | A=0.000014 |
| gnomAD - Genomes | European | Sub | 75890 | G=1.00000 | A=0.00000 |
| gnomAD - Genomes | African | Sub | 42014 | G=1.00000 | A=0.00000 |
| gnomAD - Genomes | American | Sub | 13648 | G=1.00000 | A=0.00000 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3320 | G=1.0000 | A=0.0000 |
| gnomAD - Genomes | East Asian | Sub | 3134 | G=0.9994 | A=0.0006 |
| gnomAD - Genomes | Other | Sub | 2152 | G=1.0000 | A=0.0000 |
| Allele Frequency Aggregator | Total | Global | 14050 | G=1.00000 | A=0.00000 |
| Allele Frequency Aggregator | European | Sub | 9690 | G=1.0000 | A=0.0000 |
| Allele Frequency Aggregator | African | Sub | 2898 | G=1.0000 | A=0.0000 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 610 | G=1.000 | A=0.000 |
| Allele Frequency Aggregator | Other | Sub | 496 | G=1.000 | A=0.000 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 146 | G=1.000 | A=0.000 |
| Allele Frequency Aggregator | Asian | Sub | 112 | G=1.000 | A=0.000 |
| Allele Frequency Aggregator | South Asian | Sub | 98 | G=1.00 | A=0.00 |
Help
Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.
Genomic Placements
| Sequence name | Change |
|---|---|
| GRCh38.p14 chr 8 | NC_000008.11:g.129841314G>A |
| GRCh37.p13 chr 8 | NC_000008.10:g.130853560G>A |
Gene: CYRIB, CYFIP related Rac1 interactor B
(minus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| CYRIB transcript variant 33 | NM_001353271.1:c.*828= | N/A | 3 Prime UTR Variant |
| CYRIB transcript variant 40 | NM_001353278.1:c.*828= | N/A | 3 Prime UTR Variant |
| CYRIB transcript variant 37 | NM_001353275.1:c.*828= | N/A | 3 Prime UTR Variant |
| CYRIB transcript variant 35 | NM_001353273.1:c.*828= | N/A | 3 Prime UTR Variant |
| CYRIB transcript variant 7 | NM_001353245.1:c.*828= | N/A | 3 Prime UTR Variant |
| CYRIB transcript variant 14 | NM_001353252.1:c.*828= | N/A | 3 Prime UTR Variant |
| CYRIB transcript variant 34 | NM_001353272.1:c.*828= | N/A | 3 Prime UTR Variant |
| CYRIB transcript variant 13 | NM_001353251.1:c.*828= | N/A | 3 Prime UTR Variant |
| CYRIB transcript variant 12 | NM_001353250.1:c.*828= | N/A | 3 Prime UTR Variant |
| CYRIB transcript variant 41 | NM_001353279.1:c.*828= | N/A | 3 Prime UTR Variant |
| CYRIB transcript variant 11 | NM_001353249.1:c.*828= | N/A | 3 Prime UTR Variant |
| CYRIB transcript variant 64 | NM_001353302.1:c.*828= | N/A | 3 Prime UTR Variant |
| CYRIB transcript variant 17 | NM_001353255.1:c.*828= | N/A | 3 Prime UTR Variant |
| CYRIB transcript variant 9 | NM_001353247.1:c.*828= | N/A | 3 Prime UTR Variant |
| CYRIB transcript variant 42 | NM_001353280.1:c.*828= | N/A | 3 Prime UTR Variant |
| CYRIB transcript variant 36 | NM_001353274.1:c.*828= | N/A | 3 Prime UTR Variant |
| CYRIB transcript variant 66 | NM_001353304.1:c.*828= | N/A | 3 Prime UTR Variant |
| CYRIB transcript variant 32 | NM_001353270.1:c.*828= | N/A | 3 Prime UTR Variant |
| CYRIB transcript variant 65 | NM_001353303.1:c.*828= | N/A | 3 Prime UTR Variant |
| CYRIB transcript variant 15 | NM_001353253.1:c.*828= | N/A | 3 Prime UTR Variant |
| CYRIB transcript variant 39 | NM_001353277.1:c.*828= | N/A | 3 Prime UTR Variant |
| CYRIB transcript variant 43 | NM_001353281.1:c.*828= | N/A | 3 Prime UTR Variant |
| CYRIB transcript variant 67 | NM_001353305.1:c.*828= | N/A | 3 Prime UTR Variant |
| CYRIB transcript variant 31 | NM_001353269.1:c.*828= | N/A | 3 Prime UTR Variant |
| CYRIB transcript variant 8 | NM_001353246.1:c.*828= | N/A | 3 Prime UTR Variant |
| CYRIB transcript variant 70 | NM_001353308.1:c.*828= | N/A | 3 Prime UTR Variant |
| CYRIB transcript variant 71 | NM_001353309.1:c.*828= | N/A | 3 Prime UTR Variant |
| CYRIB transcript variant 38 | NM_001353276.2:c.*828= | N/A | 3 Prime UTR Variant |
| CYRIB transcript variant 28 | NM_001353266.2:c.*828= | N/A | 3 Prime UTR Variant |
| CYRIB transcript variant 74 | NM_001353312.2:c.*828= | N/A | 3 Prime UTR Variant |
| CYRIB transcript variant 50 | NM_001353288.2:c.*828= | N/A | 3 Prime UTR Variant |
| CYRIB transcript variant 52 | NM_001353290.2:c.*828= | N/A | 3 Prime UTR Variant |
| CYRIB transcript variant 19 | NM_001353257.2:c.*828= | N/A | 3 Prime UTR Variant |
| CYRIB transcript variant 63 | NM_001353301.2:c.*828= | N/A | 3 Prime UTR Variant |
| CYRIB transcript variant 29 | NM_001353267.2:c.*828= | N/A | 3 Prime UTR Variant |
| CYRIB transcript variant 23 | NM_001353261.2:c.*828= | N/A | 3 Prime UTR Variant |
| CYRIB transcript variant 61 | NM_001353299.2:c.*828= | N/A | 3 Prime UTR Variant |
| CYRIB transcript variant 20 | NM_001353258.2:c.*828= | N/A | 3 Prime UTR Variant |
| CYRIB transcript variant 21 | NM_001353259.2:c.*828= | N/A | 3 Prime UTR Variant |
| CYRIB transcript variant 72 | NM_001353310.2:c.*828= | N/A | 3 Prime UTR Variant |
| CYRIB transcript variant 57 | NM_001353295.2:c.*828= | N/A | 3 Prime UTR Variant |
| CYRIB transcript variant 54 | NM_001353292.2:c.*828= | N/A | 3 Prime UTR Variant |
| CYRIB transcript variant 44 | NM_001353282.2:c.*828= | N/A | 3 Prime UTR Variant |
| CYRIB transcript variant 76 | NM_001353314.2:c.*828= | N/A | 3 Prime UTR Variant |
| CYRIB transcript variant 51 | NM_001353289.2:c.*828= | N/A | 3 Prime UTR Variant |
| CYRIB transcript variant 25 | NM_001353263.2:c.*828= | N/A | 3 Prime UTR Variant |
| CYRIB transcript variant 18 | NM_001353256.2:c.*828= | N/A | 3 Prime UTR Variant |
| CYRIB transcript variant 49 | NM_001353287.2:c.*828= | N/A | 3 Prime UTR Variant |
| CYRIB transcript variant 5 | NM_001353243.2:c.*828= | N/A | 3 Prime UTR Variant |
| CYRIB transcript variant 58 | NM_001353296.2:c.*828= | N/A | 3 Prime UTR Variant |
| CYRIB transcript variant 47 | NM_001353285.2:c.*828= | N/A | 3 Prime UTR Variant |
| CYRIB transcript variant 2 | NM_016623.5:c.*828= | N/A | 3 Prime UTR Variant |
| CYRIB transcript variant 75 | NM_001353313.2:c.*828= | N/A | 3 Prime UTR Variant |
| CYRIB transcript variant 10 | NM_001353248.2:c.*828= | N/A | 3 Prime UTR Variant |
| CYRIB transcript variant 46 | NM_001353284.2:c.*828= | N/A | 3 Prime UTR Variant |
| CYRIB transcript variant 24 | NM_001353262.2:c.*828= | N/A | 3 Prime UTR Variant |
| CYRIB transcript variant 3 | NM_001353244.2:c.*828= | N/A | 3 Prime UTR Variant |
| CYRIB transcript variant 55 | NM_001353293.2:c.*828= | N/A | 3 Prime UTR Variant |
| CYRIB transcript variant 1 | NM_001256763.2:c.*828= | N/A | 3 Prime UTR Variant |
| CYRIB transcript variant 62 | NM_001353300.2:c.*828= | N/A | 3 Prime UTR Variant |
| CYRIB transcript variant 30 | NM_001353268.2:c.*828= | N/A | 3 Prime UTR Variant |
| CYRIB transcript variant 48 | NM_001353286.2:c.*828= | N/A | 3 Prime UTR Variant |
| CYRIB transcript variant 4 | NM_001353242.2:c.*828= | N/A | 3 Prime UTR Variant |
| CYRIB transcript variant 26 | NM_001353264.2:c.*828= | N/A | 3 Prime UTR Variant |
| CYRIB transcript variant 16 | NM_001353254.2:c.*828= | N/A | 3 Prime UTR Variant |
| CYRIB transcript variant 60 | NM_001353298.2:c.*828= | N/A | 3 Prime UTR Variant |
| CYRIB transcript variant 22 | NM_001353260.2:c.*828= | N/A | 3 Prime UTR Variant |
| CYRIB transcript variant 78 | NM_001353316.2:c.*828= | N/A | 3 Prime UTR Variant |
| CYRIB transcript variant 53 | NM_001353291.2:c.*828= | N/A | 3 Prime UTR Variant |
| CYRIB transcript variant 69 | NM_001353307.2:c.*828= | N/A | 3 Prime UTR Variant |
| CYRIB transcript variant 77 | NM_001353315.2:c.*828= | N/A | 3 Prime UTR Variant |
| CYRIB transcript variant 6 | NM_001330612.2:c.*828= | N/A | 3 Prime UTR Variant |
| CYRIB transcript variant 68 | NM_001353306.2:c.*828= | N/A | 3 Prime UTR Variant |
| CYRIB transcript variant 59 | NM_001353297.2:c.*828= | N/A | 3 Prime UTR Variant |
| CYRIB transcript variant 56 | NM_001353294.2:c.*828= | N/A | 3 Prime UTR Variant |
| CYRIB transcript variant 73 | NM_001353311.2:c.*828= | N/A | 3 Prime UTR Variant |
| CYRIB transcript variant 45 | NM_001353283.2:c.*828= | N/A | 3 Prime UTR Variant |
| CYRIB transcript variant 27 | NM_001353265.2:c.*828= | N/A | 3 Prime UTR Variant |
| CYRIB transcript variant X1 | XM_011517121.4:c.*828= | N/A | 3 Prime UTR Variant |
| CYRIB transcript variant X2 | XM_047421855.1:c.*828= | N/A | 3 Prime UTR Variant |
| CYRIB transcript variant X3 | XM_024447180.2:c.*828= | N/A | 3 Prime UTR Variant |
| CYRIB transcript variant X4 | XM_047421856.1:c.*828= | N/A | 3 Prime UTR Variant |
| CYRIB transcript variant X5 | XM_047421857.1:c.*828= | N/A | 3 Prime UTR Variant |
| CYRIB transcript variant X6 | XM_047421859.1:c.*828= | N/A | 3 Prime UTR Variant |
Help
Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.
Not Reported in ClinVar
Help
Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".
| Placement | G= | A |
|---|---|---|
| GRCh38.p14 chr 8 | NC_000008.11:g.129841314= | NC_000008.11:g.129841314G>A |
| GRCh37.p13 chr 8 | NC_000008.10:g.130853560= | NC_000008.10:g.130853560G>A |
| CYRIB transcript variant 2 | NM_016623.5:c.*828= | NM_016623.5:c.*828C>T |
| FAM49B transcript variant 2 | NM_016623.4:c.*828= | NM_016623.4:c.*828C>T |
| CYRIB transcript variant X1 | XM_011517121.4:c.*828= | XM_011517121.4:c.*828C>T |
| CYRIB transcript variant 3 | NM_001353244.2:c.*828= | NM_001353244.2:c.*828C>T |
| FAM49B transcript variant 3 | NM_001353244.1:c.*828= | NM_001353244.1:c.*828C>T |
| CYRIB transcript variant 21 | NM_001353259.2:c.*828= | NM_001353259.2:c.*828C>T |
| FAM49B transcript variant 21 | NM_001353259.1:c.*828= | NM_001353259.1:c.*828C>T |
| CYRIB transcript variant 77 | NM_001353315.2:c.*828= | NM_001353315.2:c.*828C>T |
| FAM49B transcript variant 77 | NM_001353315.1:c.*828= | NM_001353315.1:c.*828C>T |
| CYRIB transcript variant 4 | NM_001353242.2:c.*828= | NM_001353242.2:c.*828C>T |
| FAM49B transcript variant 4 | NM_001353242.1:c.*828= | NM_001353242.1:c.*828C>T |
| CYRIB transcript variant 5 | NM_001353243.2:c.*828= | NM_001353243.2:c.*828C>T |
| FAM49B transcript variant 5 | NM_001353243.1:c.*828= | NM_001353243.1:c.*828C>T |
| CYRIB transcript variant 16 | NM_001353254.2:c.*828= | NM_001353254.2:c.*828C>T |
| FAM49B transcript variant 16 | NM_001353254.1:c.*828= | NM_001353254.1:c.*828C>T |
| CYRIB transcript variant 58 | NM_001353296.2:c.*828= | NM_001353296.2:c.*828C>T |
| FAM49B transcript variant 58 | NM_001353296.1:c.*828= | NM_001353296.1:c.*828C>T |
| CYRIB transcript variant X3 | XM_024447180.2:c.*828= | XM_024447180.2:c.*828C>T |
| CYRIB transcript variant 29 | NM_001353267.2:c.*828= | NM_001353267.2:c.*828C>T |
| FAM49B transcript variant 29 | NM_001353267.1:c.*828= | NM_001353267.1:c.*828C>T |
| CYRIB transcript variant 62 | NM_001353300.2:c.*828= | NM_001353300.2:c.*828C>T |
| FAM49B transcript variant 62 | NM_001353300.1:c.*828= | NM_001353300.1:c.*828C>T |
| CYRIB transcript variant 74 | NM_001353312.2:c.*828= | NM_001353312.2:c.*828C>T |
| FAM49B transcript variant 74 | NM_001353312.1:c.*828= | NM_001353312.1:c.*828C>T |
| CYRIB transcript variant 23 | NM_001353261.2:c.*828= | NM_001353261.2:c.*828C>T |
| FAM49B transcript variant 23 | NM_001353261.1:c.*828= | NM_001353261.1:c.*828C>T |
| CYRIB transcript variant 30 | NM_001353268.2:c.*828= | NM_001353268.2:c.*828C>T |
| FAM49B transcript variant 30 | NM_001353268.1:c.*828= | NM_001353268.1:c.*828C>T |
| CYRIB transcript variant 49 | NM_001353287.2:c.*828= | NM_001353287.2:c.*828C>T |
| FAM49B transcript variant 49 | NM_001353287.1:c.*828= | NM_001353287.1:c.*828C>T |
| CYRIB transcript variant 73 | NM_001353311.2:c.*828= | NM_001353311.2:c.*828C>T |
| FAM49B transcript variant 73 | NM_001353311.1:c.*828= | NM_001353311.1:c.*828C>T |
| CYRIB transcript variant 69 | NM_001353307.2:c.*828= | NM_001353307.2:c.*828C>T |
| FAM49B transcript variant 69 | NM_001353307.1:c.*828= | NM_001353307.1:c.*828C>T |
| CYRIB transcript variant 20 | NM_001353258.2:c.*828= | NM_001353258.2:c.*828C>T |
| FAM49B transcript variant 20 | NM_001353258.1:c.*828= | NM_001353258.1:c.*828C>T |
| CYRIB transcript variant 10 | NM_001353248.2:c.*828= | NM_001353248.2:c.*828C>T |
| FAM49B transcript variant 10 | NM_001353248.1:c.*828= | NM_001353248.1:c.*828C>T |
| CYRIB transcript variant 26 | NM_001353264.2:c.*828= | NM_001353264.2:c.*828C>T |
| FAM49B transcript variant 26 | NM_001353264.1:c.*828= | NM_001353264.1:c.*828C>T |
| CYRIB transcript variant 51 | NM_001353289.2:c.*828= | NM_001353289.2:c.*828C>T |
| FAM49B transcript variant 51 | NM_001353289.1:c.*828= | NM_001353289.1:c.*828C>T |
| CYRIB transcript variant 76 | NM_001353314.2:c.*828= | NM_001353314.2:c.*828C>T |
| FAM49B transcript variant 76 | NM_001353314.1:c.*828= | NM_001353314.1:c.*828C>T |
| CYRIB transcript variant 1 | NM_001256763.2:c.*828= | NM_001256763.2:c.*828C>T |
| FAM49B transcript variant 1 | NM_001256763.1:c.*828= | NM_001256763.1:c.*828C>T |
| CYRIB transcript variant 18 | NM_001353256.2:c.*828= | NM_001353256.2:c.*828C>T |
| FAM49B transcript variant 18 | NM_001353256.1:c.*828= | NM_001353256.1:c.*828C>T |
| CYRIB transcript variant 27 | NM_001353265.2:c.*828= | NM_001353265.2:c.*828C>T |
| FAM49B transcript variant 27 | NM_001353265.1:c.*828= | NM_001353265.1:c.*828C>T |
| CYRIB transcript variant 72 | NM_001353310.2:c.*828= | NM_001353310.2:c.*828C>T |
| FAM49B transcript variant 72 | NM_001353310.1:c.*828= | NM_001353310.1:c.*828C>T |
| CYRIB transcript variant 24 | NM_001353262.2:c.*828= | NM_001353262.2:c.*828C>T |
| FAM49B transcript variant 24 | NM_001353262.1:c.*828= | NM_001353262.1:c.*828C>T |
| CYRIB transcript variant 78 | NM_001353316.2:c.*828= | NM_001353316.2:c.*828C>T |
| FAM49B transcript variant 78 | NM_001353316.1:c.*828= | NM_001353316.1:c.*828C>T |
| CYRIB transcript variant 52 | NM_001353290.2:c.*828= | NM_001353290.2:c.*828C>T |
| FAM49B transcript variant 52 | NM_001353290.1:c.*828= | NM_001353290.1:c.*828C>T |
| CYRIB transcript variant 47 | NM_001353285.2:c.*828= | NM_001353285.2:c.*828C>T |
| FAM49B transcript variant 47 | NM_001353285.1:c.*828= | NM_001353285.1:c.*828C>T |
| CYRIB transcript variant 68 | NM_001353306.2:c.*828= | NM_001353306.2:c.*828C>T |
| FAM49B transcript variant 68 | NM_001353306.1:c.*828= | NM_001353306.1:c.*828C>T |
| CYRIB transcript variant 22 | NM_001353260.2:c.*828= | NM_001353260.2:c.*828C>T |
| FAM49B transcript variant 22 | NM_001353260.1:c.*828= | NM_001353260.1:c.*828C>T |
| CYRIB transcript variant 56 | NM_001353294.2:c.*828= | NM_001353294.2:c.*828C>T |
| FAM49B transcript variant 56 | NM_001353294.1:c.*828= | NM_001353294.1:c.*828C>T |
| CYRIB transcript variant 60 | NM_001353298.2:c.*828= | NM_001353298.2:c.*828C>T |
| FAM49B transcript variant 60 | NM_001353298.1:c.*828= | NM_001353298.1:c.*828C>T |
| CYRIB transcript variant 46 | NM_001353284.2:c.*828= | NM_001353284.2:c.*828C>T |
| FAM49B transcript variant 46 | NM_001353284.1:c.*828= | NM_001353284.1:c.*828C>T |
| CYRIB transcript variant 19 | NM_001353257.2:c.*828= | NM_001353257.2:c.*828C>T |
| FAM49B transcript variant 19 | NM_001353257.1:c.*828= | NM_001353257.1:c.*828C>T |
| CYRIB transcript variant 75 | NM_001353313.2:c.*828= | NM_001353313.2:c.*828C>T |
| FAM49B transcript variant 75 | NM_001353313.1:c.*828= | NM_001353313.1:c.*828C>T |
| CYRIB transcript variant 54 | NM_001353292.2:c.*828= | NM_001353292.2:c.*828C>T |
| FAM49B transcript variant 54 | NM_001353292.1:c.*828= | NM_001353292.1:c.*828C>T |
| CYRIB transcript variant 53 | NM_001353291.2:c.*828= | NM_001353291.2:c.*828C>T |
| FAM49B transcript variant 53 | NM_001353291.1:c.*828= | NM_001353291.1:c.*828C>T |
| CYRIB transcript variant 25 | NM_001353263.2:c.*828= | NM_001353263.2:c.*828C>T |
| FAM49B transcript variant 25 | NM_001353263.1:c.*828= | NM_001353263.1:c.*828C>T |
| CYRIB transcript variant 61 | NM_001353299.2:c.*828= | NM_001353299.2:c.*828C>T |
| FAM49B transcript variant 61 | NM_001353299.1:c.*828= | NM_001353299.1:c.*828C>T |
| CYRIB transcript variant 57 | NM_001353295.2:c.*828= | NM_001353295.2:c.*828C>T |
| FAM49B transcript variant 57 | NM_001353295.1:c.*828= | NM_001353295.1:c.*828C>T |
| CYRIB transcript variant 28 | NM_001353266.2:c.*828= | NM_001353266.2:c.*828C>T |
| FAM49B transcript variant 28 | NM_001353266.1:c.*828= | NM_001353266.1:c.*828C>T |
| CYRIB transcript variant 38 | NM_001353276.2:c.*828= | NM_001353276.2:c.*828C>T |
| FAM49B transcript variant 38 | NM_001353276.1:c.*828= | NM_001353276.1:c.*828C>T |
| CYRIB transcript variant 48 | NM_001353286.2:c.*828= | NM_001353286.2:c.*828C>T |
| FAM49B transcript variant 48 | NM_001353286.1:c.*828= | NM_001353286.1:c.*828C>T |
| CYRIB transcript variant 50 | NM_001353288.2:c.*828= | NM_001353288.2:c.*828C>T |
| FAM49B transcript variant 50 | NM_001353288.1:c.*828= | NM_001353288.1:c.*828C>T |
| CYRIB transcript variant 45 | NM_001353283.2:c.*828= | NM_001353283.2:c.*828C>T |
| FAM49B transcript variant 45 | NM_001353283.1:c.*828= | NM_001353283.1:c.*828C>T |
| CYRIB transcript variant 6 | NM_001330612.2:c.*828= | NM_001330612.2:c.*828C>T |
| FAM49B transcript variant 6 | NM_001330612.1:c.*828= | NM_001330612.1:c.*828C>T |
| CYRIB transcript variant 55 | NM_001353293.2:c.*828= | NM_001353293.2:c.*828C>T |
| FAM49B transcript variant 55 | NM_001353293.1:c.*828= | NM_001353293.1:c.*828C>T |
| CYRIB transcript variant 63 | NM_001353301.2:c.*828= | NM_001353301.2:c.*828C>T |
| FAM49B transcript variant 63 | NM_001353301.1:c.*828= | NM_001353301.1:c.*828C>T |
| CYRIB transcript variant 44 | NM_001353282.2:c.*828= | NM_001353282.2:c.*828C>T |
| FAM49B transcript variant 44 | NM_001353282.1:c.*828= | NM_001353282.1:c.*828C>T |
| CYRIB transcript variant 59 | NM_001353297.2:c.*828= | NM_001353297.2:c.*828C>T |
| FAM49B transcript variant 59 | NM_001353297.1:c.*828= | NM_001353297.1:c.*828C>T |
| FAM49B transcript variant 3 | NR_046359.1:n.2470= | NR_046359.1:n.2470C>T |
| FAM49B transcript variant 4 | NR_046360.1:n.2380= | NR_046360.1:n.2380C>T |
| FAM49B transcript variant 5 | NR_046361.1:n.2370= | NR_046361.1:n.2370C>T |
| CYRIB transcript variant 13 | NM_001353251.1:c.*828= | NM_001353251.1:c.*828C>T |
| CYRIB transcript variant X4 | XM_047421856.1:c.*828= | XM_047421856.1:c.*828C>T |
| CYRIB transcript variant 71 | NM_001353309.1:c.*828= | NM_001353309.1:c.*828C>T |
| CYRIB transcript variant 17 | NM_001353255.1:c.*828= | NM_001353255.1:c.*828C>T |
| CYRIB transcript variant 15 | NM_001353253.1:c.*828= | NM_001353253.1:c.*828C>T |
| CYRIB transcript variant 37 | NM_001353275.1:c.*828= | NM_001353275.1:c.*828C>T |
| CYRIB transcript variant 9 | NM_001353247.1:c.*828= | NM_001353247.1:c.*828C>T |
| CYRIB transcript variant 7 | NM_001353245.1:c.*828= | NM_001353245.1:c.*828C>T |
| CYRIB transcript variant 34 | NM_001353272.1:c.*828= | NM_001353272.1:c.*828C>T |
| CYRIB transcript variant 64 | NM_001353302.1:c.*828= | NM_001353302.1:c.*828C>T |
| CYRIB transcript variant 12 | NM_001353250.1:c.*828= | NM_001353250.1:c.*828C>T |
| CYRIB transcript variant 41 | NM_001353279.1:c.*828= | NM_001353279.1:c.*828C>T |
| CYRIB transcript variant 66 | NM_001353304.1:c.*828= | NM_001353304.1:c.*828C>T |
| CYRIB transcript variant 8 | NM_001353246.1:c.*828= | NM_001353246.1:c.*828C>T |
| CYRIB transcript variant 65 | NM_001353303.1:c.*828= | NM_001353303.1:c.*828C>T |
| CYRIB transcript variant 32 | NM_001353270.1:c.*828= | NM_001353270.1:c.*828C>T |
| CYRIB transcript variant 40 | NM_001353278.1:c.*828= | NM_001353278.1:c.*828C>T |
| CYRIB transcript variant 43 | NM_001353281.1:c.*828= | NM_001353281.1:c.*828C>T |
| CYRIB transcript variant 70 | NM_001353308.1:c.*828= | NM_001353308.1:c.*828C>T |
| CYRIB transcript variant 11 | NM_001353249.1:c.*828= | NM_001353249.1:c.*828C>T |
| CYRIB transcript variant X2 | XM_047421855.1:c.*828= | XM_047421855.1:c.*828C>T |
| CYRIB transcript variant 36 | NM_001353274.1:c.*828= | NM_001353274.1:c.*828C>T |
| CYRIB transcript variant 67 | NM_001353305.1:c.*828= | NM_001353305.1:c.*828C>T |
| CYRIB transcript variant 14 | NM_001353252.1:c.*828= | NM_001353252.1:c.*828C>T |
| CYRIB transcript variant 42 | NM_001353280.1:c.*828= | NM_001353280.1:c.*828C>T |
| CYRIB transcript variant 33 | NM_001353271.1:c.*828= | NM_001353271.1:c.*828C>T |
| CYRIB transcript variant 35 | NM_001353273.1:c.*828= | NM_001353273.1:c.*828C>T |
| CYRIB transcript variant 39 | NM_001353277.1:c.*828= | NM_001353277.1:c.*828C>T |
| CYRIB transcript variant X6 | XM_047421859.1:c.*828= | XM_047421859.1:c.*828C>T |
| CYRIB transcript variant X5 | XM_047421857.1:c.*828= | XM_047421857.1:c.*828C>T |
| CYRIB transcript variant 31 | NM_001353269.1:c.*828= | NM_001353269.1:c.*828C>T |
Help
Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.
2 SubSNP,
3 Frequency
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | GNOMAD | ss2872898027 | Nov 08, 2017 (151) |
| 2 | TOPMED | ss4804826005 | Apr 26, 2021 (155) |
| 3 | gnomAD - Genomes | NC_000008.11 - 129841314 | Apr 26, 2021 (155) |
| 4 | TopMed | NC_000008.11 - 129841314 | Apr 26, 2021 (155) |
| 5 | ALFA | NC_000008.11 - 129841314 | Apr 26, 2021 (155) |
Help
History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
No publications for rs1475745784
Help
The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.
Genome context:
Select flank length:
Genomic regions, transcripts, and products
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Help
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.