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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs1484057256

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr11:27658151 (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
C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.000004 (1/251304, GnomAD_exome)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
BDNF : Synonymous Variant
BDNF-AS : Intron Variant
Publications
0 citations
Genomic View
See rs on genome
Help

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
gnomAD - Exomes Global Study-wide 251304 C=0.999996 T=0.000004
gnomAD - Exomes European Sub 135228 C=0.999993 T=0.000007
gnomAD - Exomes Asian Sub 49010 C=1.00000 T=0.00000
gnomAD - Exomes American Sub 34592 C=1.00000 T=0.00000
gnomAD - Exomes African Sub 16256 C=1.00000 T=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10078 C=1.00000 T=0.00000
gnomAD - Exomes Other Sub 6140 C=1.0000 T=0.0000
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 11 NC_000011.10:g.27658151C>T
GRCh37.p13 chr 11 NC_000011.9:g.27679698C>T
BDNF RefSeqGene NG_011794.1:g.68908G>A
Gene: BDNF, brain derived neurotrophic factor (minus strand)
Molecule type Change Amino acid[Codon] SO Term
BDNF transcript variant 2 NM_170732.4:c.414G>A L [CTG] > L [CTA] Coding Sequence Variant
neurotrophic factor BDNF precursor form isoform a preproprotein NP_733928.1:p.Leu138= L (Leu) > L (Leu) Synonymous Variant
BDNF transcript variant 7 NM_001143805.1:c.414G>A L [CTG] > L [CTA] Coding Sequence Variant
neurotrophic factor BDNF precursor form isoform a preproprotein NP_001137277.1:p.Leu138= L (Leu) > L (Leu) Synonymous Variant
BDNF transcript variant 8 NM_001143806.1:c.414G>A L [CTG] > L [CTA] Coding Sequence Variant
neurotrophic factor BDNF precursor form isoform a preproprotein NP_001137278.1:p.Leu138= L (Leu) > L (Leu) Synonymous Variant
BDNF transcript variant 4 NM_001709.5:c.414G>A L [CTG] > L [CTA] Coding Sequence Variant
neurotrophic factor BDNF precursor form isoform a preproprotein NP_001700.2:p.Leu138= L (Leu) > L (Leu) Synonymous Variant
BDNF transcript variant 13 NM_001143813.2:c.414G>A L [CTG] > L [CTA] Coding Sequence Variant
neurotrophic factor BDNF precursor form isoform a preproprotein NP_001137285.1:p.Leu138= L (Leu) > L (Leu) Synonymous Variant
BDNF transcript variant 3 NM_170731.5:c.438G>A L [CTG] > L [CTA] Coding Sequence Variant
neurotrophic factor BDNF precursor form isoform b precursor NP_733927.1:p.Leu146= L (Leu) > L (Leu) Synonymous Variant
BDNF transcript variant 9 NM_001143807.2:c.414G>A L [CTG] > L [CTA] Coding Sequence Variant
neurotrophic factor BDNF precursor form isoform a preproprotein NP_001137279.1:p.Leu138= L (Leu) > L (Leu) Synonymous Variant
BDNF transcript variant 14 NM_001143814.2:c.414G>A L [CTG] > L [CTA] Coding Sequence Variant
neurotrophic factor BDNF precursor form isoform a preproprotein NP_001137286.1:p.Leu138= L (Leu) > L (Leu) Synonymous Variant
BDNF transcript variant 10 NM_001143808.2:c.414G>A L [CTG] > L [CTA] Coding Sequence Variant
neurotrophic factor BDNF precursor form isoform a preproprotein NP_001137280.1:p.Leu138= L (Leu) > L (Leu) Synonymous Variant
BDNF transcript variant 1 NM_170735.6:c.414G>A L [CTG] > L [CTA] Coding Sequence Variant
neurotrophic factor BDNF precursor form isoform a preproprotein NP_733931.1:p.Leu138= L (Leu) > L (Leu) Synonymous Variant
BDNF transcript variant 16 NM_001143816.2:c.414G>A L [CTG] > L [CTA] Coding Sequence Variant
neurotrophic factor BDNF precursor form isoform a preproprotein NP_001137288.1:p.Leu138= L (Leu) > L (Leu) Synonymous Variant
BDNF transcript variant 5 NM_170733.4:c.414G>A L [CTG] > L [CTA] Coding Sequence Variant
neurotrophic factor BDNF precursor form isoform a preproprotein NP_733929.1:p.Leu138= L (Leu) > L (Leu) Synonymous Variant
BDNF transcript variant 11 NM_001143811.2:c.414G>A L [CTG] > L [CTA] Coding Sequence Variant
neurotrophic factor BDNF precursor form isoform a preproprotein NP_001137283.1:p.Leu138= L (Leu) > L (Leu) Synonymous Variant
BDNF transcript variant 12 NM_001143812.2:c.414G>A L [CTG] > L [CTA] Coding Sequence Variant
neurotrophic factor BDNF precursor form isoform a preproprotein NP_001137284.1:p.Leu138= L (Leu) > L (Leu) Synonymous Variant
BDNF transcript variant 17 NM_001143809.2:c.501G>A L [CTG] > L [CTA] Coding Sequence Variant
neurotrophic factor BDNF precursor form isoform d precursor NP_001137281.1:p.Leu167= L (Leu) > L (Leu) Synonymous Variant
BDNF transcript variant 18 NM_001143810.2:c.660G>A L [CTG] > L [CTA] Coding Sequence Variant
neurotrophic factor BDNF precursor form isoform e NP_001137282.1:p.Leu220= L (Leu) > L (Leu) Synonymous Variant
BDNF transcript variant 6 NM_170734.4:c.459G>A L [CTG] > L [CTA] Coding Sequence Variant
neurotrophic factor BDNF precursor form isoform c precursor NP_733930.1:p.Leu153= L (Leu) > L (Leu) Synonymous Variant
Gene: BDNF-AS, BDNF antisense RNA (plus strand)
Molecule type Change Amino acid[Codon] SO Term
BDNF-AS transcript variant BT2B NR_002832.2:n. N/A Intron Variant
BDNF-AS transcript variant BT1C NR_033312.1:n. N/A Intron Variant
BDNF-AS transcript variant BT1A NR_033313.1:n. N/A Intron Variant
BDNF-AS transcript variant BT2A NR_033314.1:n. N/A Intron Variant
BDNF-AS transcript variant BT1B NR_033315.1:n. N/A Intron 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 C= T
GRCh38.p14 chr 11 NC_000011.10:g.27658151= NC_000011.10:g.27658151C>T
GRCh37.p13 chr 11 NC_000011.9:g.27679698= NC_000011.9:g.27679698C>T
BDNF RefSeqGene NG_011794.1:g.68908= NG_011794.1:g.68908G>A
BDNF transcript variant 1 NM_170735.6:c.414= NM_170735.6:c.414G>A
BDNF transcript variant 1 NM_170735.5:c.414= NM_170735.5:c.414G>A
BDNF transcript variant 3 NM_170731.5:c.438= NM_170731.5:c.438G>A
BDNF transcript variant 3 NM_170731.4:c.438= NM_170731.4:c.438G>A
BDNF transcript variant 4 NM_001709.5:c.414= NM_001709.5:c.414G>A
BDNF transcript variant 4 NM_001709.4:c.414= NM_001709.4:c.414G>A
BDNF transcript variant 2 NM_170732.4:c.414= NM_170732.4:c.414G>A
BDNF transcript variant 5 NM_170733.4:c.414= NM_170733.4:c.414G>A
BDNF transcript variant 5 NM_170733.3:c.414= NM_170733.3:c.414G>A
BDNF transcript variant 6 NM_170734.4:c.459= NM_170734.4:c.459G>A
BDNF transcript variant 6 NM_170734.3:c.459= NM_170734.3:c.459G>A
BDNF transcript variant 16 NM_001143816.2:c.414= NM_001143816.2:c.414G>A
BDNF transcript variant 16 NM_001143816.1:c.414= NM_001143816.1:c.414G>A
BDNF transcript variant 11 NM_001143811.2:c.414= NM_001143811.2:c.414G>A
BDNF transcript variant 11 NM_001143811.1:c.414= NM_001143811.1:c.414G>A
BDNF transcript variant 14 NM_001143814.2:c.414= NM_001143814.2:c.414G>A
BDNF transcript variant 14 NM_001143814.1:c.414= NM_001143814.1:c.414G>A
BDNF transcript variant 18 NM_001143810.2:c.660= NM_001143810.2:c.660G>A
BDNF transcript variant 18 NM_001143810.1:c.660= NM_001143810.1:c.660G>A
BDNF transcript variant 13 NM_001143813.2:c.414= NM_001143813.2:c.414G>A
BDNF transcript variant 13 NM_001143813.1:c.414= NM_001143813.1:c.414G>A
BDNF transcript variant 12 NM_001143812.2:c.414= NM_001143812.2:c.414G>A
BDNF transcript variant 12 NM_001143812.1:c.414= NM_001143812.1:c.414G>A
BDNF transcript variant 17 NM_001143809.2:c.501= NM_001143809.2:c.501G>A
BDNF transcript variant 17 NM_001143809.1:c.501= NM_001143809.1:c.501G>A
BDNF transcript variant 10 NM_001143808.2:c.414= NM_001143808.2:c.414G>A
BDNF transcript variant 10 NM_001143808.1:c.414= NM_001143808.1:c.414G>A
BDNF transcript variant 9 NM_001143807.2:c.414= NM_001143807.2:c.414G>A
BDNF transcript variant 9 NM_001143807.1:c.414= NM_001143807.1:c.414G>A
BDNF transcript variant 8 NM_001143806.1:c.414= NM_001143806.1:c.414G>A
BDNF transcript variant 7 NM_001143805.1:c.414= NM_001143805.1:c.414G>A
BDNF transcript variant 15 NM_001143815.1:c.414= NM_001143815.1:c.414G>A
neurotrophic factor BDNF precursor form isoform a preproprotein NP_733931.1:p.Leu138= NP_733931.1:p.Leu138=
neurotrophic factor BDNF precursor form isoform b precursor NP_733927.1:p.Leu146= NP_733927.1:p.Leu146=
neurotrophic factor BDNF precursor form isoform a preproprotein NP_001700.2:p.Leu138= NP_001700.2:p.Leu138=
neurotrophic factor BDNF precursor form isoform a preproprotein NP_733928.1:p.Leu138= NP_733928.1:p.Leu138=
neurotrophic factor BDNF precursor form isoform a preproprotein NP_733929.1:p.Leu138= NP_733929.1:p.Leu138=
neurotrophic factor BDNF precursor form isoform c precursor NP_733930.1:p.Leu153= NP_733930.1:p.Leu153=
neurotrophic factor BDNF precursor form isoform a preproprotein NP_001137288.1:p.Leu138= NP_001137288.1:p.Leu138=
neurotrophic factor BDNF precursor form isoform a preproprotein NP_001137283.1:p.Leu138= NP_001137283.1:p.Leu138=
neurotrophic factor BDNF precursor form isoform a preproprotein NP_001137286.1:p.Leu138= NP_001137286.1:p.Leu138=
neurotrophic factor BDNF precursor form isoform e NP_001137282.1:p.Leu220= NP_001137282.1:p.Leu220=
neurotrophic factor BDNF precursor form isoform a preproprotein NP_001137285.1:p.Leu138= NP_001137285.1:p.Leu138=
neurotrophic factor BDNF precursor form isoform a preproprotein NP_001137284.1:p.Leu138= NP_001137284.1:p.Leu138=
neurotrophic factor BDNF precursor form isoform d precursor NP_001137281.1:p.Leu167= NP_001137281.1:p.Leu167=
neurotrophic factor BDNF precursor form isoform a preproprotein NP_001137280.1:p.Leu138= NP_001137280.1:p.Leu138=
neurotrophic factor BDNF precursor form isoform a preproprotein NP_001137279.1:p.Leu138= NP_001137279.1:p.Leu138=
neurotrophic factor BDNF precursor form isoform a preproprotein NP_001137278.1:p.Leu138= NP_001137278.1:p.Leu138=
neurotrophic factor BDNF precursor form isoform a preproprotein NP_001137277.1:p.Leu138= NP_001137277.1:p.Leu138=
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#.

1 SubSNP, 1 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2738870938 Nov 08, 2017 (151)
2 gnomAD - Exomes NC_000011.9 - 27679698 Jul 13, 2019 (153)
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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
8082863, ss2738870938 NC_000011.9:27679697:C:T NC_000011.10:27658150:C:T (self)
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 rs1484057256

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
Top▲ 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.

Software version is: 2.0.1.post820+afb47a3d