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.
rs1478825837
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr16:7587288 (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=0.000004 (1/264690, TOPMED)A=0.00003 (1/32012, ALFA)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- RBFOX1 : Synonymous 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 | 32012 | G=0.99997 | A=0.00003 | 0.999938 | 0.0 | 6.2e-05 | 0 |
| European | Sub | 23820 | G=0.99996 | A=0.00004 | 0.999916 | 0.0 | 0.000084 | 0 |
| African | Sub | 2314 | G=1.0000 | A=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| African Others | Sub | 84 | G=1.00 | A=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| African American | Sub | 2230 | G=1.0000 | A=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| Asian | Sub | 108 | G=1.000 | A=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| East Asian | Sub | 84 | G=1.00 | A=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Other Asian | Sub | 24 | G=1.00 | A=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Latin American 1 | Sub | 500 | G=1.000 | A=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| Latin American 2 | Sub | 628 | G=1.000 | A=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| South Asian | Sub | 94 | G=1.00 | A=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Other | Sub | 4548 | G=1.0000 | A=0.0000 | 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=0.999996 | A=0.000004 |
| Allele Frequency Aggregator | Total | Global | 32012 | G=0.99997 | A=0.00003 |
| Allele Frequency Aggregator | European | Sub | 23820 | G=0.99996 | A=0.00004 |
| Allele Frequency Aggregator | Other | Sub | 4548 | G=1.0000 | A=0.0000 |
| Allele Frequency Aggregator | African | Sub | 2314 | G=1.0000 | A=0.0000 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 628 | G=1.000 | A=0.000 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 500 | G=1.000 | A=0.000 |
| Allele Frequency Aggregator | Asian | Sub | 108 | G=1.000 | A=0.000 |
| Allele Frequency Aggregator | South Asian | Sub | 94 | 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 16 | NC_000016.10:g.7587288G>A |
| GRCh37.p13 chr 16 | NC_000016.9:g.7637290G>A |
| RBFOX1 RefSeqGene | NG_011881.2:g.2352537G>A |
Gene: RBFOX1, RNA binding fox-1 homolog 1
(plus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| RBFOX1 transcript variant 7 | NM_001308117.1:c.585G>A | E [GAG] > E [GAA] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 1 isoform 6 | NP_001295046.1:p.Glu195= | E (Glu) > E (Glu) | Synonymous Variant |
| RBFOX1 transcript variant 4 | NM_018723.4:c.456G>A | E [GAG] > E [GAA] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 1 isoform 4 | NP_061193.2:p.Glu152= | E (Glu) > E (Glu) | Synonymous Variant |
| RBFOX1 transcript variant 3 | NM_145893.3:c.516G>A | E [GAG] > E [GAA] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 1 isoform 3 | NP_665900.1:p.Glu172= | E (Glu) > E (Glu) | Synonymous Variant |
| RBFOX1 transcript variant 1 | NM_145891.3:c.516G>A | E [GAG] > E [GAA] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 1 isoform 1 | NP_665898.1:p.Glu172= | E (Glu) > E (Glu) | Synonymous Variant |
| RBFOX1 transcript variant 8 | NM_001364800.2:c.456G>A | E [GAG] > E [GAA] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 1 isoform 7 | NP_001351729.1:p.Glu152= | E (Glu) > E (Glu) | Synonymous Variant |
| RBFOX1 transcript variant 2 | NM_145892.3:c.516G>A | E [GAG] > E [GAA] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 1 isoform 2 | NP_665899.1:p.Glu172= | E (Glu) > E (Glu) | Synonymous Variant |
| RBFOX1 transcript variant 5 | NM_001142333.2:c.456G>A | E [GAG] > E [GAA] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 1 isoform 5 | NP_001135805.1:p.Glu152= | E (Glu) > E (Glu) | Synonymous Variant |
| RBFOX1 transcript variant 6 | NM_001142334.2:c.456G>A | E [GAG] > E [GAA] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 1 isoform 4 | NP_001135806.1:p.Glu152= | E (Glu) > E (Glu) | Synonymous Variant |
| RBFOX1 transcript variant X1 | XM_017023318.3:c.1053G>A | E [GAG] > E [GAA] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 1 isoform X1 | XP_016878807.1:p.Glu351= | E (Glu) > E (Glu) | Synonymous Variant |
| RBFOX1 transcript variant X2 | XM_024450303.2:c.1014G>A | E [GAG] > E [GAA] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 1 isoform X2 | XP_024306071.1:p.Glu338= | E (Glu) > E (Glu) | Synonymous Variant |
| RBFOX1 transcript variant X3 | XM_047434241.1:c.933G>A | E [GAG] > E [GAA] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 1 isoform X3 | XP_047290197.1:p.Glu311= | E (Glu) > E (Glu) | Synonymous Variant |
| RBFOX1 transcript variant X4 | XM_017023319.3:c.933G>A | E [GAG] > E [GAA] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 1 isoform X4 | XP_016878808.2:p.Glu311= | E (Glu) > E (Glu) | Synonymous Variant |
| RBFOX1 transcript variant X3 | XM_017023320.3:c.585G>A | E [GAG] > E [GAA] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 1 isoform X3 | XP_016878809.1:p.Glu195= | E (Glu) > E (Glu) | Synonymous Variant |
| RBFOX1 transcript variant X6 | XM_047434242.1:c.585G>A | E [GAG] > E [GAA] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 1 isoform X6 | XP_047290198.1:p.Glu195= | E (Glu) > E (Glu) | Synonymous Variant |
| RBFOX1 transcript variant X4 | XM_017023321.3:c.564G>A | E [GAG] > E [GAA] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 1 isoform X4 | XP_016878810.1:p.Glu188= | E (Glu) > E (Glu) | Synonymous Variant |
| RBFOX1 transcript variant X8 | XM_017023322.3:c.564G>A | E [GAG] > E [GAA] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 1 isoform X8 | XP_016878811.1:p.Glu188= | E (Glu) > E (Glu) | Synonymous Variant |
| RBFOX1 transcript variant X5 | XM_005255386.5:c.531G>A | E [GAG] > E [GAA] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 1 isoform X5 | XP_005255443.1:p.Glu177= | E (Glu) > E (Glu) | Synonymous Variant |
| RBFOX1 transcript variant X10 | XM_017023323.3:c.531G>A | E [GAG] > E [GAA] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 1 isoform X10 | XP_016878812.1:p.Glu177= | E (Glu) > E (Glu) | Synonymous Variant |
| RBFOX1 transcript variant X6 | XM_005255387.5:c.516G>A | E [GAG] > E [GAA] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 1 isoform X6 | XP_005255444.1:p.Glu172= | E (Glu) > E (Glu) | Synonymous Variant |
| RBFOX1 transcript variant X12 | XM_017023324.3:c.585G>A | E [GAG] > E [GAA] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 1 isoform X12 | XP_016878813.1:p.Glu195= | E (Glu) > E (Glu) | Synonymous Variant |
| RBFOX1 transcript variant X13 | XM_024450304.2:c.564G>A | E [GAG] > E [GAA] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 1 isoform X13 | XP_024306072.1:p.Glu188= | E (Glu) > E (Glu) | Synonymous Variant |
| RBFOX1 transcript variant X7 | XM_024450305.2:c.564G>A | E [GAG] > E [GAA] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 1 isoform X7 | XP_024306073.1:p.Glu188= | E (Glu) > E (Glu) | Synonymous Variant |
| RBFOX1 transcript variant X8 | XM_047434243.1:c.462G>A | E [GAG] > E [GAA] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 1 isoform X8 | XP_047290199.1:p.Glu154= | E (Glu) > E (Glu) | Synonymous Variant |
| RBFOX1 transcript variant X9 | XM_005255391.5:c.456G>A | E [GAG] > E [GAA] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 1 isoform X9 | XP_005255448.1:p.Glu152= | E (Glu) > E (Glu) | Synonymous Variant |
| RBFOX1 transcript variant X10 | XM_047434244.1:c.456G>A | E [GAG] > E [GAA] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 1 isoform X9 | XP_047290200.1:p.Glu152= | E (Glu) > E (Glu) | Synonymous Variant |
| RBFOX1 transcript variant X18 | XM_017023327.2:c.531G>A | E [GAG] > E [GAA] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 1 isoform X17 | XP_016878816.1:p.Glu177= | E (Glu) > E (Glu) | Synonymous Variant |
| RBFOX1 transcript variant X19 | XM_047434245.1:c.564G>A | E [GAG] > E [GAA] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 1 isoform X18 | XP_047290201.1:p.Glu188= | E (Glu) > E (Glu) | Synonymous Variant |
| RBFOX1 transcript variant X20 | XM_017023328.3:c.585G>A | E [GAG] > E [GAA] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 1 isoform X19 | XP_016878817.1:p.Glu195= | E (Glu) > E (Glu) | Synonymous Variant |
| RBFOX1 transcript variant X21 | XM_011522546.3:c.516G>A | E [GAG] > E [GAA] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 1 isoform X20 | XP_011520848.1:p.Glu172= | E (Glu) > E (Glu) | Synonymous Variant |
| RBFOX1 transcript variant X22 | XM_017023329.3:c.585G>A | E [GAG] > E [GAA] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 1 isoform X21 | XP_016878818.1:p.Glu195= | E (Glu) > E (Glu) | Synonymous Variant |
| RBFOX1 transcript variant X11 | XM_024450306.2:c.516G>A | E [GAG] > E [GAA] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 1 isoform X10 | XP_024306074.1:p.Glu172= | E (Glu) > E (Glu) | Synonymous Variant |
| RBFOX1 transcript variant X24 | XM_017023330.2:c.564G>A | E [GAG] > E [GAA] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 1 isoform X23 | XP_016878819.1:p.Glu188= | E (Glu) > E (Glu) | Synonymous Variant |
| RBFOX1 transcript variant X25 | XM_047434246.1:c.531G>A | E [GAG] > E [GAA] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 1 isoform X24 | XP_047290202.1:p.Glu177= | E (Glu) > E (Glu) | Synonymous Variant |
| RBFOX1 transcript variant X26 | XM_047434247.1:c.564G>A | E [GAG] > E [GAA] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 1 isoform X25 | XP_047290203.1:p.Glu188= | E (Glu) > E (Glu) | Synonymous Variant |
| RBFOX1 transcript variant X27 | XM_017023332.2:c.531G>A | E [GAG] > E [GAA] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 1 isoform X26 | XP_016878821.1:p.Glu177= | E (Glu) > E (Glu) | Synonymous Variant |
| RBFOX1 transcript variant X28 | XM_017023334.2:c.531G>A | E [GAG] > E [GAA] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 1 isoform X27 | XP_016878823.1:p.Glu177= | E (Glu) > E (Glu) | Synonymous Variant |
| RBFOX1 transcript variant X29 | XM_011522547.3:c.516G>A | E [GAG] > E [GAA] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 1 isoform X28 | XP_011520849.1:p.Glu172= | E (Glu) > E (Glu) | Synonymous Variant |
| RBFOX1 transcript variant X30 | XM_047434248.1:c.462G>A | E [GAG] > E [GAA] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 1 isoform X29 | XP_047290204.1:p.Glu154= | E (Glu) > E (Glu) | Synonymous Variant |
| RBFOX1 transcript variant X31 | XM_005255394.5:c.516G>A | E [GAG] > E [GAA] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 1 isoform X30 | XP_005255451.1:p.Glu172= | E (Glu) > E (Glu) | Synonymous Variant |
| RBFOX1 transcript variant X32 | XM_024450308.2:c.531G>A | E [GAG] > E [GAA] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 1 isoform X31 | XP_024306076.1:p.Glu177= | E (Glu) > E (Glu) | Synonymous Variant |
| RBFOX1 transcript variant X33 | XM_024450309.2:c.585G>A | E [GAG] > E [GAA] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 1 isoform X32 | XP_024306077.1:p.Glu195= | E (Glu) > E (Glu) | Synonymous Variant |
| RBFOX1 transcript variant X34 | XM_024450310.2:c.585G>A | E [GAG] > E [GAA] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 1 isoform X33 | XP_024306078.1:p.Glu195= | E (Glu) > E (Glu) | Synonymous Variant |
| RBFOX1 transcript variant X35 | XM_024450311.2:c.564G>A | E [GAG] > E [GAA] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 1 isoform X34 | XP_024306079.1:p.Glu188= | E (Glu) > E (Glu) | Synonymous Variant |
| RBFOX1 transcript variant X36 | XM_024450312.2:c.564G>A | E [GAG] > E [GAA] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 1 isoform X35 | XP_024306080.1:p.Glu188= | E (Glu) > E (Glu) | Synonymous Variant |
| RBFOX1 transcript variant X37 | XM_024450313.2:c.564G>A | E [GAG] > E [GAA] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 1 isoform X36 | XP_024306081.1:p.Glu188= | E (Glu) > E (Glu) | Synonymous Variant |
| RBFOX1 transcript variant X38 | XM_017023337.2:c.531G>A | E [GAG] > E [GAA] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 1 isoform X37 | XP_016878826.1:p.Glu177= | E (Glu) > E (Glu) | Synonymous Variant |
| RBFOX1 transcript variant X12 | XM_047434249.1:c.462G>A | E [GAG] > E [GAA] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 1 isoform X11 | XP_047290205.1:p.Glu154= | E (Glu) > E (Glu) | Synonymous Variant |
| RBFOX1 transcript variant X40 | XM_047434250.1:c.462G>A | E [GAG] > E [GAA] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 1 isoform X39 | XP_047290206.1:p.Glu154= | E (Glu) > E (Glu) | Synonymous Variant |
| RBFOX1 transcript variant X41 | XM_011522548.3:c.516G>A | E [GAG] > E [GAA] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 1 isoform X40 | XP_011520850.1:p.Glu172= | E (Glu) > E (Glu) | Synonymous Variant |
| RBFOX1 transcript variant X42 | XM_024450314.2:c.585G>A | E [GAG] > E [GAA] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 1 isoform X41 | XP_024306082.1:p.Glu195= | E (Glu) > E (Glu) | Synonymous Variant |
| RBFOX1 transcript variant X43 | XM_017023340.2:c.456G>A | E [GAG] > E [GAA] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 1 isoform X42 | XP_016878829.1:p.Glu152= | E (Glu) > E (Glu) | Synonymous Variant |
| RBFOX1 transcript variant X44 | XM_047434251.1:c.462G>A | E [GAG] > E [GAA] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 1 isoform X43 | XP_047290207.1:p.Glu154= | E (Glu) > E (Glu) | Synonymous 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.
Allele: A (allele ID:
688651
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000869413.6 | Idiopathic generalized epilepsy | Likely-Benign |
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 16 | NC_000016.10:g.7587288= | NC_000016.10:g.7587288G>A |
| GRCh37.p13 chr 16 | NC_000016.9:g.7637290= | NC_000016.9:g.7637290G>A |
| RBFOX1 RefSeqGene | NG_011881.2:g.2352537= | NG_011881.2:g.2352537G>A |
| RBFOX1 transcript variant 4 | NM_018723.4:c.456= | NM_018723.4:c.456G>A |
| RBFOX1 transcript variant 4 | NM_018723.3:c.456= | NM_018723.3:c.456G>A |
| RBFOX1 transcript variant 3 | NM_145893.3:c.516= | NM_145893.3:c.516G>A |
| RBFOX1 transcript variant 3 | NM_145893.2:c.516= | NM_145893.2:c.516G>A |
| RBFOX1 transcript variant 1 | NM_145891.3:c.516= | NM_145891.3:c.516G>A |
| RBFOX1 transcript variant 1 | NM_145891.2:c.516= | NM_145891.2:c.516G>A |
| RBFOX1 transcript variant 2 | NM_145892.3:c.516= | NM_145892.3:c.516G>A |
| RBFOX1 transcript variant 2 | NM_145892.2:c.516= | NM_145892.2:c.516G>A |
| RBFOX1 transcript variant 8 | NM_001364800.2:c.456= | NM_001364800.2:c.456G>A |
| RBFOX1 transcript variant 8 | NM_001364800.1:c.456= | NM_001364800.1:c.456G>A |
| RBFOX1 transcript variant 5 | NM_001142333.2:c.456= | NM_001142333.2:c.456G>A |
| RBFOX1 transcript variant 5 | NM_001142333.1:c.456= | NM_001142333.1:c.456G>A |
| RBFOX1 transcript variant 6 | NM_001142334.2:c.456= | NM_001142334.2:c.456G>A |
| RBFOX1 transcript variant 6 | NM_001142334.1:c.456= | NM_001142334.1:c.456G>A |
| RBFOX1 transcript variant 7 | NM_001308117.1:c.585= | NM_001308117.1:c.585G>A |
| RBFOX1 transcript variant X31 | XM_005255394.5:c.516= | XM_005255394.5:c.516G>A |
| RBFOX1 transcript variant X28 | XM_005255394.4:c.516= | XM_005255394.4:c.516G>A |
| RBFOX1 transcript variant X19 | XM_005255394.3:c.516= | XM_005255394.3:c.516G>A |
| RBFOX1 transcript variant X17 | XM_005255394.2:c.516= | XM_005255394.2:c.516G>A |
| RBFOX1 transcript variant X17 | XM_005255394.1:c.516= | XM_005255394.1:c.516G>A |
| RBFOX1 transcript variant X5 | XM_005255386.5:c.531= | XM_005255386.5:c.531G>A |
| RBFOX1 transcript variant X7 | XM_005255386.4:c.531= | XM_005255386.4:c.531G>A |
| RBFOX1 transcript variant X6 | XM_005255386.3:c.531= | XM_005255386.3:c.531G>A |
| RBFOX1 transcript variant X10 | XM_005255386.2:c.531= | XM_005255386.2:c.531G>A |
| RBFOX1 transcript variant X9 | XM_005255386.1:c.531= | XM_005255386.1:c.531G>A |
| RBFOX1 transcript variant X9 | XM_005255391.5:c.456= | XM_005255391.5:c.456G>A |
| RBFOX1 transcript variant X14 | XM_005255391.4:c.456= | XM_005255391.4:c.456G>A |
| RBFOX1 transcript variant X12 | XM_005255391.3:c.456= | XM_005255391.3:c.456G>A |
| RBFOX1 transcript variant X15 | XM_005255391.2:c.456= | XM_005255391.2:c.456G>A |
| RBFOX1 transcript variant X14 | XM_005255391.1:c.456= | XM_005255391.1:c.456G>A |
| RBFOX1 transcript variant X6 | XM_005255387.5:c.516= | XM_005255387.5:c.516G>A |
| RBFOX1 transcript variant X9 | XM_005255387.4:c.516= | XM_005255387.4:c.516G>A |
| RBFOX1 transcript variant X8 | XM_005255387.3:c.516= | XM_005255387.3:c.516G>A |
| RBFOX1 transcript variant X11 | XM_005255387.2:c.516= | XM_005255387.2:c.516G>A |
| RBFOX1 transcript variant X10 | XM_005255387.1:c.516= | XM_005255387.1:c.516G>A |
| RBFOX1 transcript variant X4 | XM_017023319.3:c.933= | XM_017023319.3:c.933G>A |
| RBFOX1 transcript variant X3 | XM_017023319.2:c.1053= | XM_017023319.2:c.1053G>A |
| RBFOX1 transcript variant X2 | XM_017023319.1:c.1053= | XM_017023319.1:c.1053G>A |
| RBFOX1 transcript variant X20 | XM_017023328.3:c.585= | XM_017023328.3:c.585G>A |
| RBFOX1 transcript variant X17 | XM_017023328.2:c.585= | XM_017023328.2:c.585G>A |
| RBFOX1 transcript variant X16 | XM_017023328.1:c.585= | XM_017023328.1:c.585G>A |
| RBFOX1 transcript variant X12 | XM_017023324.3:c.585= | XM_017023324.3:c.585G>A |
| RBFOX1 transcript variant X10 | XM_017023324.2:c.585= | XM_017023324.2:c.585G>A |
| RBFOX1 transcript variant X9 | XM_017023324.1:c.585= | XM_017023324.1:c.585G>A |
| RBFOX1 transcript variant X29 | XM_011522547.3:c.516= | XM_011522547.3:c.516G>A |
| RBFOX1 transcript variant X26 | XM_011522547.2:c.516= | XM_011522547.2:c.516G>A |
| RBFOX1 transcript variant X18 | XM_011522547.1:c.516= | XM_011522547.1:c.516G>A |
| RBFOX1 transcript variant X22 | XM_017023329.3:c.585= | XM_017023329.3:c.585G>A |
| RBFOX1 transcript variant X19 | XM_017023329.2:c.585= | XM_017023329.2:c.585G>A |
| RBFOX1 transcript variant X18 | XM_017023329.1:c.585= | XM_017023329.1:c.585G>A |
| RBFOX1 transcript variant X21 | XM_011522546.3:c.516= | XM_011522546.3:c.516G>A |
| RBFOX1 transcript variant X18 | XM_011522546.2:c.516= | XM_011522546.2:c.516G>A |
| RBFOX1 transcript variant X16 | XM_011522546.1:c.516= | XM_011522546.1:c.516G>A |
| RBFOX1 transcript variant X41 | XM_011522548.3:c.516= | XM_011522548.3:c.516G>A |
| RBFOX1 transcript variant X39 | XM_011522548.2:c.516= | XM_011522548.2:c.516G>A |
| RBFOX1 transcript variant X20 | XM_011522548.1:c.516= | XM_011522548.1:c.516G>A |
| RBFOX1 transcript variant X10 | XM_017023323.3:c.531= | XM_017023323.3:c.531G>A |
| RBFOX1 transcript variant X8 | XM_017023323.2:c.531= | XM_017023323.2:c.531G>A |
| RBFOX1 transcript variant X7 | XM_017023323.1:c.531= | XM_017023323.1:c.531G>A |
| RBFOX1 transcript variant X1 | XM_017023318.3:c.1053= | XM_017023318.3:c.1053G>A |
| RBFOX1 transcript variant X1 | XM_017023318.2:c.1053= | XM_017023318.2:c.1053G>A |
| RBFOX1 transcript variant X1 | XM_017023318.1:c.1053= | XM_017023318.1:c.1053G>A |
| RBFOX1 transcript variant X3 | XM_017023320.3:c.585= | XM_017023320.3:c.585G>A |
| RBFOX1 transcript variant X4 | XM_017023320.2:c.585= | XM_017023320.2:c.585G>A |
| RBFOX1 transcript variant X3 | XM_017023320.1:c.585= | XM_017023320.1:c.585G>A |
| RBFOX1 transcript variant X4 | XM_017023321.3:c.564= | XM_017023321.3:c.564G>A |
| RBFOX1 transcript variant X5 | XM_017023321.2:c.564= | XM_017023321.2:c.564G>A |
| RBFOX1 transcript variant X4 | XM_017023321.1:c.564= | XM_017023321.1:c.564G>A |
| RBFOX1 transcript variant X8 | XM_017023322.3:c.564= | XM_017023322.3:c.564G>A |
| RBFOX1 transcript variant X6 | XM_017023322.2:c.564= | XM_017023322.2:c.564G>A |
| RBFOX1 transcript variant X5 | XM_017023322.1:c.564= | XM_017023322.1:c.564G>A |
| RBFOX1 transcript variant X27 | XM_017023332.2:c.531= | XM_017023332.2:c.531G>A |
| RBFOX1 transcript variant X23 | XM_017023332.1:c.531= | XM_017023332.1:c.531G>A |
| RBFOX1 transcript variant X18 | XM_017023327.2:c.531= | XM_017023327.2:c.531G>A |
| RBFOX1 transcript variant X16 | XM_017023327.1:c.531= | XM_017023327.1:c.531G>A |
| RBFOX1 transcript variant X38 | XM_017023337.2:c.531= | XM_017023337.2:c.531G>A |
| RBFOX1 transcript variant X37 | XM_017023337.1:c.531= | XM_017023337.1:c.531G>A |
| RBFOX1 transcript variant X28 | XM_017023334.2:c.531= | XM_017023334.2:c.531G>A |
| RBFOX1 transcript variant X25 | XM_017023334.1:c.531= | XM_017023334.1:c.531G>A |
| RBFOX1 transcript variant X32 | XM_024450308.2:c.531= | XM_024450308.2:c.531G>A |
| RBFOX1 transcript variant X29 | XM_024450308.1:c.531= | XM_024450308.1:c.531G>A |
| RBFOX1 transcript variant X33 | XM_024450309.2:c.585= | XM_024450309.2:c.585G>A |
| RBFOX1 transcript variant X30 | XM_024450309.1:c.585= | XM_024450309.1:c.585G>A |
| RBFOX1 transcript variant X34 | XM_024450310.2:c.585= | XM_024450310.2:c.585G>A |
| RBFOX1 transcript variant X31 | XM_024450310.1:c.585= | XM_024450310.1:c.585G>A |
| RBFOX1 transcript variant X24 | XM_017023330.2:c.564= | XM_017023330.2:c.564G>A |
| RBFOX1 transcript variant X21 | XM_017023330.1:c.564= | XM_017023330.1:c.564G>A |
| RBFOX1 transcript variant X13 | XM_024450304.2:c.564= | XM_024450304.2:c.564G>A |
| RBFOX1 transcript variant X11 | XM_024450304.1:c.564= | XM_024450304.1:c.564G>A |
| RBFOX1 transcript variant X35 | XM_024450311.2:c.564= | XM_024450311.2:c.564G>A |
| RBFOX1 transcript variant X32 | XM_024450311.1:c.564= | XM_024450311.1:c.564G>A |
| RBFOX1 transcript variant X36 | XM_024450312.2:c.564= | XM_024450312.2:c.564G>A |
| RBFOX1 transcript variant X33 | XM_024450312.1:c.564= | XM_024450312.1:c.564G>A |
| RBFOX1 transcript variant X43 | XM_017023340.2:c.456= | XM_017023340.2:c.456G>A |
| RBFOX1 transcript variant X41 | XM_017023340.1:c.456= | XM_017023340.1:c.456G>A |
| RBFOX1 transcript variant X37 | XM_024450313.2:c.564= | XM_024450313.2:c.564G>A |
| RBFOX1 transcript variant X34 | XM_024450313.1:c.564= | XM_024450313.1:c.564G>A |
| RBFOX1 transcript variant X2 | XM_024450303.2:c.1014= | XM_024450303.2:c.1014G>A |
| RBFOX1 transcript variant X2 | XM_024450303.1:c.1014= | XM_024450303.1:c.1014G>A |
| RBFOX1 transcript variant X7 | XM_024450305.2:c.564= | XM_024450305.2:c.564G>A |
| RBFOX1 transcript variant X12 | XM_024450305.1:c.564= | XM_024450305.1:c.564G>A |
| RBFOX1 transcript variant X11 | XM_024450306.2:c.516= | XM_024450306.2:c.516G>A |
| RBFOX1 transcript variant X20 | XM_024450306.1:c.516= | XM_024450306.1:c.516G>A |
| RBFOX1 transcript variant X42 | XM_024450314.2:c.585= | XM_024450314.2:c.585G>A |
| RBFOX1 transcript variant X40 | XM_024450314.1:c.585= | XM_024450314.1:c.585G>A |
| RBFOX1 transcript variant X3 | XM_047434241.1:c.933= | XM_047434241.1:c.933G>A |
| RBFOX1 transcript variant X40 | XM_047434250.1:c.462= | XM_047434250.1:c.462G>A |
| RBFOX1 transcript variant X30 | XM_047434248.1:c.462= | XM_047434248.1:c.462G>A |
| RBFOX1 transcript variant X26 | XM_047434247.1:c.564= | XM_047434247.1:c.564G>A |
| RBFOX1 transcript variant X44 | XM_047434251.1:c.462= | XM_047434251.1:c.462G>A |
| RBFOX1 transcript variant X12 | XM_047434249.1:c.462= | XM_047434249.1:c.462G>A |
| RBFOX1 transcript variant X25 | XM_047434246.1:c.531= | XM_047434246.1:c.531G>A |
| RBFOX1 transcript variant 9 | NM_001411047.1:c.585= | NM_001411047.1:c.585G>A |
| RBFOX1 transcript variant X10 | XM_047434244.1:c.456= | XM_047434244.1:c.456G>A |
| RBFOX1 transcript variant X6 | XM_047434242.1:c.585= | XM_047434242.1:c.585G>A |
| RBFOX1 transcript variant X19 | XM_047434245.1:c.564= | XM_047434245.1:c.564G>A |
| RBFOX1 transcript variant X8 | XM_047434243.1:c.462= | XM_047434243.1:c.462G>A |
| RNA binding protein fox-1 homolog 1 isoform 4 | NP_061193.2:p.Glu152= | NP_061193.2:p.Glu152= |
| RNA binding protein fox-1 homolog 1 isoform 3 | NP_665900.1:p.Glu172= | NP_665900.1:p.Glu172= |
| RNA binding protein fox-1 homolog 1 isoform 1 | NP_665898.1:p.Glu172= | NP_665898.1:p.Glu172= |
| RNA binding protein fox-1 homolog 1 isoform 2 | NP_665899.1:p.Glu172= | NP_665899.1:p.Glu172= |
| RNA binding protein fox-1 homolog 1 isoform 7 | NP_001351729.1:p.Glu152= | NP_001351729.1:p.Glu152= |
| RNA binding protein fox-1 homolog 1 isoform 5 | NP_001135805.1:p.Glu152= | NP_001135805.1:p.Glu152= |
| RNA binding protein fox-1 homolog 1 isoform 4 | NP_001135806.1:p.Glu152= | NP_001135806.1:p.Glu152= |
| RNA binding protein fox-1 homolog 1 isoform 6 | NP_001295046.1:p.Glu195= | NP_001295046.1:p.Glu195= |
| RNA binding protein fox-1 homolog 1 isoform X30 | XP_005255451.1:p.Glu172= | XP_005255451.1:p.Glu172= |
| RNA binding protein fox-1 homolog 1 isoform X5 | XP_005255443.1:p.Glu177= | XP_005255443.1:p.Glu177= |
| RNA binding protein fox-1 homolog 1 isoform X9 | XP_005255448.1:p.Glu152= | XP_005255448.1:p.Glu152= |
| RNA binding protein fox-1 homolog 1 isoform X6 | XP_005255444.1:p.Glu172= | XP_005255444.1:p.Glu172= |
| RNA binding protein fox-1 homolog 1 isoform X4 | XP_016878808.2:p.Glu311= | XP_016878808.2:p.Glu311= |
| RNA binding protein fox-1 homolog 1 isoform X19 | XP_016878817.1:p.Glu195= | XP_016878817.1:p.Glu195= |
| RNA binding protein fox-1 homolog 1 isoform X12 | XP_016878813.1:p.Glu195= | XP_016878813.1:p.Glu195= |
| RNA binding protein fox-1 homolog 1 isoform X28 | XP_011520849.1:p.Glu172= | XP_011520849.1:p.Glu172= |
| RNA binding protein fox-1 homolog 1 isoform X21 | XP_016878818.1:p.Glu195= | XP_016878818.1:p.Glu195= |
| RNA binding protein fox-1 homolog 1 isoform X20 | XP_011520848.1:p.Glu172= | XP_011520848.1:p.Glu172= |
| RNA binding protein fox-1 homolog 1 isoform X40 | XP_011520850.1:p.Glu172= | XP_011520850.1:p.Glu172= |
| RNA binding protein fox-1 homolog 1 isoform X10 | XP_016878812.1:p.Glu177= | XP_016878812.1:p.Glu177= |
| RNA binding protein fox-1 homolog 1 isoform X1 | XP_016878807.1:p.Glu351= | XP_016878807.1:p.Glu351= |
| RNA binding protein fox-1 homolog 1 isoform X3 | XP_016878809.1:p.Glu195= | XP_016878809.1:p.Glu195= |
| RNA binding protein fox-1 homolog 1 isoform X4 | XP_016878810.1:p.Glu188= | XP_016878810.1:p.Glu188= |
| RNA binding protein fox-1 homolog 1 isoform X8 | XP_016878811.1:p.Glu188= | XP_016878811.1:p.Glu188= |
| RNA binding protein fox-1 homolog 1 isoform X26 | XP_016878821.1:p.Glu177= | XP_016878821.1:p.Glu177= |
| RNA binding protein fox-1 homolog 1 isoform X17 | XP_016878816.1:p.Glu177= | XP_016878816.1:p.Glu177= |
| RNA binding protein fox-1 homolog 1 isoform X37 | XP_016878826.1:p.Glu177= | XP_016878826.1:p.Glu177= |
| RNA binding protein fox-1 homolog 1 isoform X27 | XP_016878823.1:p.Glu177= | XP_016878823.1:p.Glu177= |
| RNA binding protein fox-1 homolog 1 isoform X31 | XP_024306076.1:p.Glu177= | XP_024306076.1:p.Glu177= |
| RNA binding protein fox-1 homolog 1 isoform X32 | XP_024306077.1:p.Glu195= | XP_024306077.1:p.Glu195= |
| RNA binding protein fox-1 homolog 1 isoform X33 | XP_024306078.1:p.Glu195= | XP_024306078.1:p.Glu195= |
| RNA binding protein fox-1 homolog 1 isoform X23 | XP_016878819.1:p.Glu188= | XP_016878819.1:p.Glu188= |
| RNA binding protein fox-1 homolog 1 isoform X13 | XP_024306072.1:p.Glu188= | XP_024306072.1:p.Glu188= |
| RNA binding protein fox-1 homolog 1 isoform X34 | XP_024306079.1:p.Glu188= | XP_024306079.1:p.Glu188= |
| RNA binding protein fox-1 homolog 1 isoform X35 | XP_024306080.1:p.Glu188= | XP_024306080.1:p.Glu188= |
| RNA binding protein fox-1 homolog 1 isoform X42 | XP_016878829.1:p.Glu152= | XP_016878829.1:p.Glu152= |
| RNA binding protein fox-1 homolog 1 isoform X36 | XP_024306081.1:p.Glu188= | XP_024306081.1:p.Glu188= |
| RNA binding protein fox-1 homolog 1 isoform X2 | XP_024306071.1:p.Glu338= | XP_024306071.1:p.Glu338= |
| RNA binding protein fox-1 homolog 1 isoform X7 | XP_024306073.1:p.Glu188= | XP_024306073.1:p.Glu188= |
| RNA binding protein fox-1 homolog 1 isoform X10 | XP_024306074.1:p.Glu172= | XP_024306074.1:p.Glu172= |
| RNA binding protein fox-1 homolog 1 isoform X41 | XP_024306082.1:p.Glu195= | XP_024306082.1:p.Glu195= |
| RNA binding protein fox-1 homolog 1 isoform X3 | XP_047290197.1:p.Glu311= | XP_047290197.1:p.Glu311= |
| RNA binding protein fox-1 homolog 1 isoform X39 | XP_047290206.1:p.Glu154= | XP_047290206.1:p.Glu154= |
| RNA binding protein fox-1 homolog 1 isoform X29 | XP_047290204.1:p.Glu154= | XP_047290204.1:p.Glu154= |
| RNA binding protein fox-1 homolog 1 isoform X25 | XP_047290203.1:p.Glu188= | XP_047290203.1:p.Glu188= |
| RNA binding protein fox-1 homolog 1 isoform X43 | XP_047290207.1:p.Glu154= | XP_047290207.1:p.Glu154= |
| RNA binding protein fox-1 homolog 1 isoform X11 | XP_047290205.1:p.Glu154= | XP_047290205.1:p.Glu154= |
| RNA binding protein fox-1 homolog 1 isoform X24 | XP_047290202.1:p.Glu177= | XP_047290202.1:p.Glu177= |
| RNA binding protein fox-1 homolog 1 isoform X9 | XP_047290200.1:p.Glu152= | XP_047290200.1:p.Glu152= |
| RNA binding protein fox-1 homolog 1 isoform X6 | XP_047290198.1:p.Glu195= | XP_047290198.1:p.Glu195= |
| RNA binding protein fox-1 homolog 1 isoform X18 | XP_047290201.1:p.Glu188= | XP_047290201.1:p.Glu188= |
| RNA binding protein fox-1 homolog 1 isoform X8 | XP_047290199.1:p.Glu154= | XP_047290199.1:p.Glu154= |
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,
2 Frequency,
1 ClinVar
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | GNOMAD | ss2741736648 | Nov 08, 2017 (151) |
| 2 | TOPMED | ss5006939418 | Apr 27, 2021 (155) |
| 3 | TopMed | NC_000016.10 - 7587288 | Apr 27, 2021 (155) |
| 4 | ALFA | NC_000016.10 - 7587288 | Apr 27, 2021 (155) |
| 5 | ClinVar | RCV000869413.6 | Oct 16, 2022 (156) |
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 rs1478825837
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.