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.
rs6265
Current Build 155
Released April 9, 2021
- Organism
- Homo sapiens
- Position
-
chr11:27658369 (GRCh38.p13) 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=0.190935 (71760/375834, ALFA)T=0.151052 (39982/264690, TOPMED)T=0.194877 (48968/251276, GnomAD_exome) (+ 25 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
-
BDNF : Missense VariantBDNF-AS : Non Coding Transcript Variant
- Publications
- 553 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.
| Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|
| Total | Global | 375834 | C=0.809065 | T=0.190935 |
| European | Sub | 325872 | C=0.806080 | T=0.193920 |
| African | Sub | 12394 | C=0.95659 | T=0.04341 |
| African Others | Sub | 422 | C=0.988 | T=0.012 |
| African American | Sub | 11972 | C=0.95548 | T=0.04452 |
| Asian | Sub | 4062 | C=0.5551 | T=0.4449 |
| East Asian | Sub | 3230 | C=0.5464 | T=0.4536 |
| Other Asian | Sub | 832 | C=0.589 | T=0.411 |
| Latin American 1 | Sub | 1572 | C=0.8518 | T=0.1482 |
| Latin American 2 | Sub | 5338 | C=0.8329 | T=0.1671 |
| South Asian | Sub | 5238 | C=0.8087 | T=0.1913 |
| Other | Sub | 21358 | C=0.80827 | T=0.19173 |
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 |
|---|---|---|---|---|---|
| Allele Frequency Aggregator | Total | Global | 375834 | C=0.809065 | T=0.190935 |
| Allele Frequency Aggregator | European | Sub | 325872 | C=0.806080 | T=0.193920 |
| Allele Frequency Aggregator | Other | Sub | 21358 | C=0.80827 | T=0.19173 |
| Allele Frequency Aggregator | African | Sub | 12394 | C=0.95659 | T=0.04341 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 5338 | C=0.8329 | T=0.1671 |
| Allele Frequency Aggregator | South Asian | Sub | 5238 | C=0.8087 | T=0.1913 |
| Allele Frequency Aggregator | Asian | Sub | 4062 | C=0.5551 | T=0.4449 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 1572 | C=0.8518 | T=0.1482 |
| TopMed | Global | Study-wide | 264690 | C=0.848948 | T=0.151052 |
| gnomAD - Exomes | Global | Study-wide | 251276 | C=0.805123 | T=0.194877 |
| gnomAD - Exomes | European | Sub | 135210 | C=0.815901 | T=0.184099 |
| gnomAD - Exomes | Asian | Sub | 49008 | C=0.69458 | T=0.30542 |
| gnomAD - Exomes | American | Sub | 34592 | C=0.84788 | T=0.15212 |
| gnomAD - Exomes | African | Sub | 16254 | C=0.96665 | T=0.03335 |
| gnomAD - Exomes | Ashkenazi Jewish | Sub | 10076 | C=0.78374 | T=0.21626 |
| gnomAD - Exomes | Other | Sub | 6136 | C=0.8167 | T=0.1833 |
| gnomAD - Genomes | Global | Study-wide | 140140 | C=0.854674 | T=0.145326 |
| gnomAD - Genomes | European | Sub | 75878 | C=0.81605 | T=0.18395 |
| gnomAD - Genomes | African | Sub | 42016 | C=0.96123 | T=0.03877 |
| gnomAD - Genomes | American | Sub | 13652 | C=0.84068 | T=0.15932 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3322 | C=0.7812 | T=0.2188 |
| gnomAD - Genomes | East Asian | Sub | 3128 | C=0.5153 | T=0.4847 |
| gnomAD - Genomes | Other | Sub | 2144 | C=0.8316 | T=0.1684 |
| ExAC | Global | Study-wide | 121350 | C=0.806255 | T=0.193745 |
| ExAC | Europe | Sub | 73324 | C=0.81100 | T=0.18900 |
| ExAC | Asian | Sub | 25158 | C=0.70550 | T=0.29450 |
| ExAC | American | Sub | 11576 | C=0.85003 | T=0.14997 |
| ExAC | African | Sub | 10384 | C=0.96533 | T=0.03467 |
| ExAC | Other | Sub | 908 | C=0.837 | T=0.163 |
| The PAGE Study | Global | Study-wide | 78698 | C=0.85575 | T=0.14425 |
| The PAGE Study | AfricanAmerican | Sub | 32514 | C=0.95488 | T=0.04512 |
| The PAGE Study | Mexican | Sub | 10810 | C=0.83802 | T=0.16198 |
| The PAGE Study | Asian | Sub | 8318 | C=0.5808 | T=0.4192 |
| The PAGE Study | PuertoRican | Sub | 7916 | C=0.8560 | T=0.1440 |
| The PAGE Study | NativeHawaiian | Sub | 4534 | C=0.6621 | T=0.3379 |
| The PAGE Study | Cuban | Sub | 4230 | C=0.8407 | T=0.1593 |
| The PAGE Study | Dominican | Sub | 3828 | C=0.8945 | T=0.1055 |
| The PAGE Study | CentralAmerican | Sub | 2450 | C=0.8931 | T=0.1069 |
| The PAGE Study | SouthAmerican | Sub | 1982 | C=0.8648 | T=0.1352 |
| The PAGE Study | NativeAmerican | Sub | 1260 | C=0.8468 | T=0.1532 |
| The PAGE Study | SouthAsian | Sub | 856 | C=0.797 | T=0.203 |
| 8.3KJPN | JAPANESE | Study-wide | 16758 | C=0.59112 | T=0.40888 |
| 1000Genomes | Global | Study-wide | 5008 | C=0.7987 | T=0.2013 |
| 1000Genomes | African | Sub | 1322 | C=0.9894 | T=0.0106 |
| 1000Genomes | East Asian | Sub | 1008 | C=0.5119 | T=0.4881 |
| 1000Genomes | Europe | Sub | 1006 | C=0.8032 | T=0.1968 |
| 1000Genomes | South Asian | Sub | 978 | C=0.798 | T=0.202 |
| 1000Genomes | American | Sub | 694 | C=0.847 | T=0.153 |
| Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | C=0.8473 | T=0.1527 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | C=0.8202 | T=0.1798 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | C=0.8072 | T=0.1928 |
| KOREAN population from KRGDB | KOREAN | Study-wide | 2930 | C=0.5519 | T=0.4481 |
| HGDP-CEPH-db Supplement 1 | Global | Study-wide | 2082 | C=0.7978 | T=0.2022 |
| HGDP-CEPH-db Supplement 1 | Est_Asia | Sub | 470 | C=0.581 | T=0.419 |
| HGDP-CEPH-db Supplement 1 | Central_South_Asia | Sub | 414 | C=0.855 | T=0.145 |
| HGDP-CEPH-db Supplement 1 | Middle_Est | Sub | 350 | C=0.846 | T=0.154 |
| HGDP-CEPH-db Supplement 1 | Europe | Sub | 318 | C=0.805 | T=0.195 |
| HGDP-CEPH-db Supplement 1 | Africa | Sub | 242 | C=0.992 | T=0.008 |
| HGDP-CEPH-db Supplement 1 | America | Sub | 216 | C=0.829 | T=0.171 |
| HGDP-CEPH-db Supplement 1 | Oceania | Sub | 72 | C=0.88 | T=0.12 |
| Korean Genome Project | KOREAN | Study-wide | 1832 | C=0.5344 | T=0.4656 |
| HapMap | Global | Study-wide | 1712 | C=0.8119 | T=0.1881 |
| HapMap | American | Sub | 770 | C=0.770 | T=0.230 |
| HapMap | African | Sub | 512 | C=0.992 | T=0.008 |
| HapMap | Asian | Sub | 254 | C=0.614 | T=0.386 |
| HapMap | Europe | Sub | 176 | C=0.756 | T=0.244 |
| Genome-wide autozygosity in Daghestan | Global | Study-wide | 1136 | C=0.8556 | T=0.1444 |
| Genome-wide autozygosity in Daghestan | Daghestan | Sub | 628 | C=0.869 | T=0.131 |
| Genome-wide autozygosity in Daghestan | Near_East | Sub | 144 | C=0.812 | T=0.188 |
| Genome-wide autozygosity in Daghestan | Central Asia | Sub | 122 | C=0.811 | T=0.189 |
| Genome-wide autozygosity in Daghestan | Europe | Sub | 108 | C=0.861 | T=0.139 |
| Genome-wide autozygosity in Daghestan | South Asian | Sub | 98 | C=0.89 | T=0.11 |
| Genome-wide autozygosity in Daghestan | Caucasus | Sub | 36 | C=0.83 | T=0.17 |
| Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | C=0.794 | T=0.206 |
| Chileans | Chilean | Study-wide | 626 | C=0.885 | T=0.115 |
| A Vietnamese Genetic Variation Database | Global | Study-wide | 612 | C=0.490 | T=0.510 |
| Northern Sweden | ACPOP | Study-wide | 600 | C=0.795 | T=0.205 |
| Medical Genome Project healthy controls from Spanish population | Spanish controls | Study-wide | 534 | C=0.773 | T=0.227 |
| FINRISK | Finnish from FINRISK project | Study-wide | 304 | C=0.832 | T=0.168 |
| Qatari | Global | Study-wide | 216 | C=0.875 | T=0.125 |
| SGDP_PRJ | Global | Study-wide | 180 | C=0.417 | T=0.583 |
| Ancient Sardinia genome-wide 1240k capture data generation and analysis | Global | Study-wide | 94 | C=0.64 | T=0.36 |
| The Danish reference pan genome | Danish | Study-wide | 40 | C=0.78 | T=0.23 |
| Siberian | Global | Study-wide | 12 | C=0.50 | T=0.50 |
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.
| Sequence name | Change |
|---|---|
| GRCh38.p13 chr 11 | NC_000011.10:g.27658369C>T |
| GRCh37.p13 chr 11 | NC_000011.9:g.27679916C>T |
| BDNF RefSeqGene | NG_011794.1:g.68690G>A |
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| BDNF transcript variant 2 | NM_170732.4:c.196G>A | V [GTG] > M [ATG] | Coding Sequence Variant |
| brain-derived neurotrophic factor isoform a preproprotein | NP_733928.1:p.Val66Met | V (Val) > M (Met) | Missense Variant |
| BDNF transcript variant 7 | NM_001143805.1:c.196G>A | V [GTG] > M [ATG] | Coding Sequence Variant |
| brain-derived neurotrophic factor isoform a preproprotein | NP_001137277.1:p.Val66Met | V (Val) > M (Met) | Missense Variant |
| BDNF transcript variant 8 | NM_001143806.1:c.196G>A | V [GTG] > M [ATG] | Coding Sequence Variant |
| brain-derived neurotrophic factor isoform a preproprotein | NP_001137278.1:p.Val66Met | V (Val) > M (Met) | Missense Variant |
| BDNF transcript variant 4 | NM_001709.5:c.196G>A | V [GTG] > M [ATG] | Coding Sequence Variant |
| brain-derived neurotrophic factor isoform a preproprotein | NP_001700.2:p.Val66Met | V (Val) > M (Met) | Missense Variant |
| BDNF transcript variant 13 | NM_001143813.2:c.196G>A | V [GTG] > M [ATG] | Coding Sequence Variant |
| brain-derived neurotrophic factor isoform a preproprotein | NP_001137285.1:p.Val66Met | V (Val) > M (Met) | Missense Variant |
| BDNF transcript variant 3 | NM_170731.5:c.220G>A | V [GTG] > M [ATG] | Coding Sequence Variant |
| brain-derived neurotrophic factor isoform b precursor | NP_733927.1:p.Val74Met | V (Val) > M (Met) | Missense Variant |
| BDNF transcript variant 9 | NM_001143807.2:c.196G>A | V [GTG] > M [ATG] | Coding Sequence Variant |
| brain-derived neurotrophic factor isoform a preproprotein | NP_001137279.1:p.Val66Met | V (Val) > M (Met) | Missense Variant |
| BDNF transcript variant 14 | NM_001143814.2:c.196G>A | V [GTG] > M [ATG] | Coding Sequence Variant |
| brain-derived neurotrophic factor isoform a preproprotein | NP_001137286.1:p.Val66Met | V (Val) > M (Met) | Missense Variant |
| BDNF transcript variant 10 | NM_001143808.2:c.196G>A | V [GTG] > M [ATG] | Coding Sequence Variant |
| brain-derived neurotrophic factor isoform a preproprotein | NP_001137280.1:p.Val66Met | V (Val) > M (Met) | Missense Variant |
| BDNF transcript variant 1 | NM_170735.6:c.196G>A | V [GTG] > M [ATG] | Coding Sequence Variant |
| brain-derived neurotrophic factor isoform a preproprotein | NP_733931.1:p.Val66Met | V (Val) > M (Met) | Missense Variant |
| BDNF transcript variant 16 | NM_001143816.2:c.196G>A | V [GTG] > M [ATG] | Coding Sequence Variant |
| brain-derived neurotrophic factor isoform a preproprotein | NP_001137288.1:p.Val66Met | V (Val) > M (Met) | Missense Variant |
| BDNF transcript variant 5 | NM_170733.4:c.196G>A | V [GTG] > M [ATG] | Coding Sequence Variant |
| brain-derived neurotrophic factor isoform a preproprotein | NP_733929.1:p.Val66Met | V (Val) > M (Met) | Missense Variant |
| BDNF transcript variant 11 | NM_001143811.2:c.196G>A | V [GTG] > M [ATG] | Coding Sequence Variant |
| brain-derived neurotrophic factor isoform a preproprotein | NP_001137283.1:p.Val66Met | V (Val) > M (Met) | Missense Variant |
| BDNF transcript variant 12 | NM_001143812.2:c.196G>A | V [GTG] > M [ATG] | Coding Sequence Variant |
| brain-derived neurotrophic factor isoform a preproprotein | NP_001137284.1:p.Val66Met | V (Val) > M (Met) | Missense Variant |
| BDNF transcript variant 17 | NM_001143809.2:c.283G>A | V [GTG] > M [ATG] | Coding Sequence Variant |
| brain-derived neurotrophic factor isoform d | NP_001137281.1:p.Val95Met | V (Val) > M (Met) | Missense Variant |
| BDNF transcript variant 18 | NM_001143810.2:c.442G>A | V [GTG] > M [ATG] | Coding Sequence Variant |
| brain-derived neurotrophic factor isoform e | NP_001137282.1:p.Val148Met | V (Val) > M (Met) | Missense Variant |
| BDNF transcript variant 6 | NM_170734.4:c.241G>A | V [GTG] > M [ATG] | Coding Sequence Variant |
| brain-derived neurotrophic factor isoform c | NP_733930.1:p.Val81Met | V (Val) > M (Met) | Missense Variant |
| BDNF transcript variant X1 | XM_011520280.2:c.442G>A | V [GTG] > M [ATG] | Coding Sequence Variant |
| brain-derived neurotrophic factor isoform X1 | XP_011518582.1:p.Val148Met | V (Val) > M (Met) | Missense Variant |
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| BDNF-AS transcript variant BT2B | NR_002832.2:n.503C>T | N/A | Non Coding Transcript Variant |
| BDNF-AS transcript variant BT1C | NR_033312.1:n.434C>T | N/A | Non Coding Transcript Variant |
| BDNF-AS transcript variant BT1A | NR_033313.1:n.434C>T | N/A | Non Coding Transcript Variant |
| BDNF-AS transcript variant BT2A | NR_033314.1:n.503C>T | N/A | Non Coding Transcript Variant |
| BDNF-AS transcript variant BT1B | NR_033315.1:n.434C>T | N/A | Non Coding Transcript Variant |
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.
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000019267.5 | Memory impairment, susceptibility to | Risk-Factor |
| RCV000155463.2 | not specified | Benign |
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.p13 chr 11 | NC_000011.10:g.27658369= | NC_000011.10:g.27658369C>T |
| GRCh37.p13 chr 11 | NC_000011.9:g.27679916= | NC_000011.9:g.27679916C>T |
| BDNF RefSeqGene | NG_011794.1:g.68690= | NG_011794.1:g.68690G>A |
| BDNF transcript variant 1 | NM_170735.6:c.196= | NM_170735.6:c.196G>A |
| BDNF transcript variant 1 | NM_170735.5:c.196= | NM_170735.5:c.196G>A |
| BDNF transcript variant 3 | NM_170731.5:c.220= | NM_170731.5:c.220G>A |
| BDNF transcript variant 3 | NM_170731.4:c.220= | NM_170731.4:c.220G>A |
| BDNF transcript variant 4 | NM_001709.5:c.196= | NM_001709.5:c.196G>A |
| BDNF transcript variant 4 | NM_001709.4:c.196= | NM_001709.4:c.196G>A |
| BDNF transcript variant 2 | NM_170732.4:c.196= | NM_170732.4:c.196G>A |
| BDNF transcript variant 5 | NM_170733.4:c.196= | NM_170733.4:c.196G>A |
| BDNF transcript variant 5 | NM_170733.3:c.196= | NM_170733.3:c.196G>A |
| BDNF transcript variant 6 | NM_170734.4:c.241= | NM_170734.4:c.241G>A |
| BDNF transcript variant 6 | NM_170734.3:c.241= | NM_170734.3:c.241G>A |
| BDNF transcript variant 16 | NM_001143816.2:c.196= | NM_001143816.2:c.196G>A |
| BDNF transcript variant 16 | NM_001143816.1:c.196= | NM_001143816.1:c.196G>A |
| BDNF transcript variant 11 | NM_001143811.2:c.196= | NM_001143811.2:c.196G>A |
| BDNF transcript variant 11 | NM_001143811.1:c.196= | NM_001143811.1:c.196G>A |
| BDNF transcript variant 14 | NM_001143814.2:c.196= | NM_001143814.2:c.196G>A |
| BDNF transcript variant 14 | NM_001143814.1:c.196= | NM_001143814.1:c.196G>A |
| BDNF transcript variant 18 | NM_001143810.2:c.442= | NM_001143810.2:c.442G>A |
| BDNF transcript variant 18 | NM_001143810.1:c.442= | NM_001143810.1:c.442G>A |
| BDNF transcript variant 13 | NM_001143813.2:c.196= | NM_001143813.2:c.196G>A |
| BDNF transcript variant 13 | NM_001143813.1:c.196= | NM_001143813.1:c.196G>A |
| BDNF transcript variant 12 | NM_001143812.2:c.196= | NM_001143812.2:c.196G>A |
| BDNF transcript variant 12 | NM_001143812.1:c.196= | NM_001143812.1:c.196G>A |
| BDNF transcript variant 17 | NM_001143809.2:c.283= | NM_001143809.2:c.283G>A |
| BDNF transcript variant 17 | NM_001143809.1:c.283= | NM_001143809.1:c.283G>A |
| BDNF transcript variant 10 | NM_001143808.2:c.196= | NM_001143808.2:c.196G>A |
| BDNF transcript variant 10 | NM_001143808.1:c.196= | NM_001143808.1:c.196G>A |
| BDNF transcript variant 9 | NM_001143807.2:c.196= | NM_001143807.2:c.196G>A |
| BDNF transcript variant 9 | NM_001143807.1:c.196= | NM_001143807.1:c.196G>A |
| BDNF transcript variant 8 | NM_001143806.1:c.196= | NM_001143806.1:c.196G>A |
| BDNF transcript variant 7 | NM_001143805.1:c.196= | NM_001143805.1:c.196G>A |
| BDNF transcript variant X1 | XM_011520280.2:c.442= | XM_011520280.2:c.442G>A |
| BDNF-AS transcript variant BT2B | NR_002832.2:n.503= | NR_002832.2:n.503C>T |
| BDNF transcript variant 15 | NM_001143815.1:c.196= | NM_001143815.1:c.196G>A |
| BDNF-AS transcript variant BT1C | NR_033312.1:n.434= | NR_033312.1:n.434C>T |
| BDNF-AS transcript variant BT2A | NR_033314.1:n.503= | NR_033314.1:n.503C>T |
| BDNF-AS transcript variant BT1B | NR_033315.1:n.434= | NR_033315.1:n.434C>T |
| BDNF-AS transcript variant BT1A | NR_033313.1:n.434= | NR_033313.1:n.434C>T |
| brain-derived neurotrophic factor isoform a preproprotein | NP_733931.1:p.Val66= | NP_733931.1:p.Val66Met |
| brain-derived neurotrophic factor isoform b precursor | NP_733927.1:p.Val74= | NP_733927.1:p.Val74Met |
| brain-derived neurotrophic factor isoform a preproprotein | NP_001700.2:p.Val66= | NP_001700.2:p.Val66Met |
| brain-derived neurotrophic factor isoform a preproprotein | NP_733928.1:p.Val66= | NP_733928.1:p.Val66Met |
| brain-derived neurotrophic factor isoform a preproprotein | NP_733929.1:p.Val66= | NP_733929.1:p.Val66Met |
| brain-derived neurotrophic factor isoform c | NP_733930.1:p.Val81= | NP_733930.1:p.Val81Met |
| brain-derived neurotrophic factor isoform a preproprotein | NP_001137288.1:p.Val66= | NP_001137288.1:p.Val66Met |
| brain-derived neurotrophic factor isoform a preproprotein | NP_001137283.1:p.Val66= | NP_001137283.1:p.Val66Met |
| brain-derived neurotrophic factor isoform a preproprotein | NP_001137286.1:p.Val66= | NP_001137286.1:p.Val66Met |
| brain-derived neurotrophic factor isoform e | NP_001137282.1:p.Val148= | NP_001137282.1:p.Val148Met |
| brain-derived neurotrophic factor isoform a preproprotein | NP_001137285.1:p.Val66= | NP_001137285.1:p.Val66Met |
| brain-derived neurotrophic factor isoform a preproprotein | NP_001137284.1:p.Val66= | NP_001137284.1:p.Val66Met |
| brain-derived neurotrophic factor isoform d | NP_001137281.1:p.Val95= | NP_001137281.1:p.Val95Met |
| brain-derived neurotrophic factor isoform a preproprotein | NP_001137280.1:p.Val66= | NP_001137280.1:p.Val66Met |
| brain-derived neurotrophic factor isoform a preproprotein | NP_001137279.1:p.Val66= | NP_001137279.1:p.Val66Met |
| brain-derived neurotrophic factor isoform a preproprotein | NP_001137278.1:p.Val66= | NP_001137278.1:p.Val66Met |
| brain-derived neurotrophic factor isoform a preproprotein | NP_001137277.1:p.Val66= | NP_001137277.1:p.Val66Met |
| brain-derived neurotrophic factor isoform X1 | XP_011518582.1:p.Val148= | XP_011518582.1:p.Val148Met |
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#.
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | WIAF-CSNP | ss7889 | Sep 19, 2000 (52) |
| 2 | YUSUKE | ss5015735 | Aug 28, 2002 (108) |
| 3 | HG_BONN_CNS_SNPS | ss12586728 | Aug 26, 2003 (117) |
| 4 | SC_SNP | ss16110854 | Feb 27, 2004 (120) |
| 5 | CGAP-GAI | ss16257509 | Feb 27, 2004 (120) |
| 6 | CSHL-HAPMAP | ss19221857 | Feb 27, 2004 (120) |
| 7 | CSHL-HAPMAP | ss19926147 | Feb 27, 2004 (120) |
| 8 | SSAHASNP | ss20799529 | Apr 05, 2004 (121) |
| 9 | IMCJ-GDT | ss22886806 | Apr 05, 2004 (121) |
| 10 | PERLEGEN | ss24149102 | Sep 20, 2004 (123) |
| 11 | MGC_GENOME_DIFF | ss28509849 | Sep 24, 2004 (126) |
| 12 | ABI | ss38790107 | Mar 10, 2006 (126) |
| 13 | APPLERA_GI | ss48423502 | Mar 10, 2006 (126) |
| 14 | AFFY | ss66120185 | Nov 29, 2006 (127) |
| 15 | ILLUMINA | ss66654688 | Nov 29, 2006 (127) |
| 16 | ILLUMINA | ss67448802 | Nov 29, 2006 (127) |
| 17 | ILLUMINA | ss67800191 | Nov 29, 2006 (127) |
| 18 | PERLEGEN | ss69313816 | May 16, 2007 (127) |
| 19 | ILLUMINA | ss70861507 | May 26, 2008 (130) |
| 20 | ILLUMINA | ss71448862 | May 16, 2007 (127) |
| 21 | ILLUMINA | ss75492161 | Dec 05, 2007 (129) |
| 22 | AFFY | ss76112437 | Dec 05, 2007 (129) |
| 23 | CGM_KYOTO | ss76872494 | Dec 05, 2007 (129) |
| 24 | SI_EXO | ss76884466 | Dec 05, 2007 (129) |
| 25 | ILLUMINA | ss79218547 | Dec 15, 2007 (130) |
| 26 | KRIBB_YJKIM | ss83347130 | Dec 15, 2007 (130) |
| 27 | HGSV | ss86044520 | Dec 15, 2007 (130) |
| 28 | BCMHGSC_JDW | ss88519571 | Mar 23, 2008 (129) |
| 29 | HUMANGENOME_JCVI | ss97463065 | Feb 06, 2009 (130) |
| 30 | ILLUMINA | ss122526781 | Dec 01, 2009 (131) |
| 31 | ENSEMBL | ss132391628 | Dec 01, 2009 (131) |
| 32 | ENSEMBL | ss137760330 | Dec 01, 2009 (131) |
| 33 | ILLUMINA | ss154356517 | Dec 01, 2009 (131) |
| 34 | ILLUMINA | ss159532780 | Dec 01, 2009 (131) |
| 35 | SEATTLESEQ | ss159722962 | Dec 01, 2009 (131) |
| 36 | ILLUMINA | ss160769670 | Dec 01, 2009 (131) |
| 37 | COMPLETE_GENOMICS | ss168106615 | Jul 04, 2010 (132) |
| 38 | COMPLETE_GENOMICS | ss170723311 | Jul 04, 2010 (132) |
| 39 | ILLUMINA | ss172111436 | Jul 04, 2010 (132) |
| 40 | AFFY | ss172543408 | Jul 04, 2010 (132) |
| 41 | ILLUMINA | ss173991729 | Jul 04, 2010 (132) |
| 42 | PAGE_STUDY | ss182258803 | Jul 04, 2010 (132) |
| 43 | PAGE_STUDY | ss182258834 | Jul 04, 2010 (132) |
| 44 | 1000GENOMES | ss235499525 | Jul 15, 2010 (132) |
| 45 | 1000GENOMES | ss242143891 | Jul 15, 2010 (132) |
| 46 | OMICIA | ss244238900 | Aug 29, 2012 (137) |
| 47 | ILLUMINA | ss244304653 | Jul 04, 2010 (132) |
| 48 | OMIM-CURATED-RECORDS | ss263197788 | Nov 04, 2010 (133) |
| 49 | GMI | ss280939109 | May 04, 2012 (137) |
| 50 | GMI | ss286344166 | Apr 25, 2013 (138) |
| 51 | PJP | ss291208569 | May 09, 2011 (134) |
| 52 | NHLBI-ESP | ss342321448 | May 09, 2011 (134) |
| 53 | ILLUMINA | ss410940482 | Sep 17, 2011 (135) |
| 54 | PAGE_STUDY | ss469415390 | May 04, 2012 (137) |
| 55 | ILLUMINA | ss481228852 | May 04, 2012 (137) |
| 56 | ILLUMINA | ss481252419 | May 04, 2012 (137) |
| 57 | ILLUMINA | ss482238829 | Sep 08, 2015 (146) |
| 58 | ILLUMINA | ss485409758 | May 04, 2012 (137) |
| 59 | 1000GENOMES | ss491015044 | May 04, 2012 (137) |
| 60 | EXOME_CHIP | ss491448493 | May 04, 2012 (137) |
| 61 | CLINSEQ_SNP | ss491641794 | May 04, 2012 (137) |
| 62 | ILLUMINA | ss537344158 | Sep 08, 2015 (146) |
| 63 | SSMP | ss657957490 | Apr 25, 2013 (138) |
| 64 | ILLUMINA | ss778938426 | Aug 21, 2014 (142) |
| 65 | ILLUMINA | ss780896249 | Sep 08, 2015 (146) |
| 66 | ILLUMINA | ss783150338 | Aug 21, 2014 (142) |
| 67 | ILLUMINA | ss783582995 | Sep 08, 2015 (146) |
| 68 | ILLUMINA | ss784106321 | Aug 21, 2014 (142) |
| 69 | ILLUMINA | ss825549065 | Jul 19, 2016 (147) |
| 70 | ILLUMINA | ss832409527 | Apr 01, 2015 (144) |
| 71 | ILLUMINA | ss833044020 | Aug 21, 2014 (142) |
| 72 | ILLUMINA | ss833634848 | Aug 21, 2014 (142) |
| 73 | ILLUMINA | ss834400106 | Aug 21, 2014 (142) |
| 74 | EVA-GONL | ss988346220 | Aug 21, 2014 (142) |
| 75 | JMKIDD_LAB | ss1067521512 | Aug 21, 2014 (142) |
| 76 | JMKIDD_LAB | ss1077605940 | Aug 21, 2014 (142) |
| 77 | 1000GENOMES | ss1340608745 | Aug 21, 2014 (142) |
| 78 | HAMMER_LAB | ss1397603702 | Sep 08, 2015 (146) |
| 79 | DDI | ss1426582936 | Apr 01, 2015 (144) |
| 80 | EVA_GENOME_DK | ss1575612641 | Apr 01, 2015 (144) |
| 81 | EVA_FINRISK | ss1584073819 | Apr 01, 2015 (144) |
| 82 | EVA_DECODE | ss1598022297 | Apr 01, 2015 (144) |
| 83 | EVA_UK10K_ALSPAC | ss1626250508 | Apr 01, 2015 (144) |
| 84 | EVA_UK10K_TWINSUK | ss1669244541 | Apr 01, 2015 (144) |
| 85 | EVA_EXAC | ss1690304714 | Apr 01, 2015 (144) |
| 86 | EVA_MGP | ss1711286917 | Apr 01, 2015 (144) |
| 87 | EVA_SVP | ss1713244242 | Apr 01, 2015 (144) |
| 88 | ILLUMINA | ss1752011944 | Sep 08, 2015 (146) |
| 89 | ILLUMINA | ss1752011945 | Sep 08, 2015 (146) |
| 90 | ILLUMINA | ss1917857738 | Feb 12, 2016 (147) |
| 91 | WEILL_CORNELL_DGM | ss1931707520 | Feb 12, 2016 (147) |
| 92 | ILLUMINA | ss1946306031 | Feb 12, 2016 (147) |
| 93 | ILLUMINA | ss1946306032 | Feb 12, 2016 (147) |
| 94 | ILLUMINA | ss1959336449 | Feb 12, 2016 (147) |
| 95 | ILLUMINA | ss1959336450 | Feb 12, 2016 (147) |
| 96 | GENOMED | ss1967328479 | Jul 19, 2016 (147) |
| 97 | JJLAB | ss2026601482 | Sep 14, 2016 (149) |
| 98 | ILLUMINA | ss2094790360 | Dec 20, 2016 (150) |
| 99 | ILLUMINA | ss2095021016 | Dec 20, 2016 (150) |
| 100 | CSHL | ss2136776518 | Nov 08, 2017 (151) |
| 101 | USC_VALOUEV | ss2154890065 | Dec 20, 2016 (150) |
| 102 | HUMAN_LONGEVITY | ss2181188897 | Dec 20, 2016 (150) |
| 103 | TOPMED | ss2344365953 | Dec 20, 2016 (150) |
| 104 | SYSTEMSBIOZJU | ss2627773729 | Nov 08, 2017 (151) |
| 105 | ILLUMINA | ss2632817982 | Nov 08, 2017 (151) |
| 106 | ILLUMINA | ss2632817983 | Nov 08, 2017 (151) |
| 107 | ILLUMINA | ss2632817984 | Nov 08, 2017 (151) |
| 108 | ILLUMINA | ss2635024532 | Nov 08, 2017 (151) |
| 109 | GRF | ss2699167918 | Nov 08, 2017 (151) |
| 110 | ILLUMINA | ss2710732189 | Nov 08, 2017 (151) |
| 111 | GNOMAD | ss2738870976 | Nov 08, 2017 (151) |
| 112 | GNOMAD | ss2748583287 | Nov 08, 2017 (151) |
| 113 | GNOMAD | ss2897700734 | Nov 08, 2017 (151) |
| 114 | AFFY | ss2984938208 | Nov 08, 2017 (151) |
| 115 | AFFY | ss2985583329 | Nov 08, 2017 (151) |
| 116 | SWEGEN | ss3007801784 | Nov 08, 2017 (151) |
| 117 | ILLUMINA | ss3021320974 | Nov 08, 2017 (151) |
| 118 | ILLUMINA | ss3021320975 | Nov 08, 2017 (151) |
| 119 | EVA_SAMSUNG_MC | ss3023066529 | Nov 08, 2017 (151) |
| 120 | BIOINF_KMB_FNS_UNIBA | ss3027099325 | Nov 08, 2017 (151) |
| 121 | TOPMED | ss3140205643 | Nov 08, 2017 (151) |
| 122 | CSHL | ss3349517651 | Nov 08, 2017 (151) |
| 123 | ILLUMINA | ss3625598510 | Oct 12, 2018 (152) |
| 124 | ILLUMINA | ss3626628211 | Oct 12, 2018 (152) |
| 125 | ILLUMINA | ss3626628212 | Oct 12, 2018 (152) |
| 126 | ILLUMINA | ss3630836302 | Oct 12, 2018 (152) |
| 127 | ILLUMINA | ss3632980783 | Oct 12, 2018 (152) |
| 128 | ILLUMINA | ss3633679710 | Oct 12, 2018 (152) |
| 129 | ILLUMINA | ss3634447257 | Oct 12, 2018 (152) |
| 130 | ILLUMINA | ss3634447258 | Oct 12, 2018 (152) |
| 131 | ILLUMINA | ss3635371481 | Oct 12, 2018 (152) |
| 132 | ILLUMINA | ss3636131800 | Oct 12, 2018 (152) |
| 133 | ILLUMINA | ss3637122310 | Oct 12, 2018 (152) |
| 134 | ILLUMINA | ss3637898466 | Oct 12, 2018 (152) |
| 135 | ILLUMINA | ss3638964746 | Oct 12, 2018 (152) |
| 136 | ILLUMINA | ss3639482955 | Oct 12, 2018 (152) |
| 137 | ILLUMINA | ss3640154596 | Oct 12, 2018 (152) |
| 138 | ILLUMINA | ss3640154597 | Oct 12, 2018 (152) |
| 139 | ILLUMINA | ss3642897586 | Oct 12, 2018 (152) |
| 140 | ILLUMINA | ss3644558838 | Oct 12, 2018 (152) |
| 141 | ILLUMINA | ss3644558839 | Oct 12, 2018 (152) |
| 142 | OMUKHERJEE_ADBS | ss3646423872 | Oct 12, 2018 (152) |
| 143 | URBANLAB | ss3649567984 | Oct 12, 2018 (152) |
| 144 | ILLUMINA | ss3651683878 | Oct 12, 2018 (152) |
| 145 | ILLUMINA | ss3651683879 | Oct 12, 2018 (152) |
| 146 | ILLUMINA | ss3653710073 | Oct 12, 2018 (152) |
| 147 | EGCUT_WGS | ss3675203701 | Jul 13, 2019 (153) |
| 148 | EVA_DECODE | ss3691459786 | Jul 13, 2019 (153) |
| 149 | ILLUMINA | ss3725228031 | Jul 13, 2019 (153) |
| 150 | ACPOP | ss3738036625 | Jul 13, 2019 (153) |
| 151 | ILLUMINA | ss3744082850 | Jul 13, 2019 (153) |
| 152 | ILLUMINA | ss3744378325 | Jul 13, 2019 (153) |
| 153 | ILLUMINA | ss3744748154 | Jul 13, 2019 (153) |
| 154 | ILLUMINA | ss3744748155 | Jul 13, 2019 (153) |
| 155 | EVA | ss3749096546 | Jul 13, 2019 (153) |
| 156 | PAGE_CC | ss3771614886 | Jul 13, 2019 (153) |
| 157 | ILLUMINA | ss3772248191 | Jul 13, 2019 (153) |
| 158 | ILLUMINA | ss3772248192 | Jul 13, 2019 (153) |
| 159 | KHV_HUMAN_GENOMES | ss3814448068 | Jul 13, 2019 (153) |
| 160 | EVA | ss3824603260 | Apr 26, 2020 (154) |
| 161 | EVA | ss3825527377 | Apr 26, 2020 (154) |
| 162 | EVA | ss3825542817 | Apr 26, 2020 (154) |
| 163 | EVA | ss3825795338 | Apr 26, 2020 (154) |
| 164 | EVA | ss3832548482 | Apr 26, 2020 (154) |
| 165 | EVA | ss3839825141 | Apr 26, 2020 (154) |
| 166 | EVA | ss3845302521 | Apr 26, 2020 (154) |
| 167 | HGDP | ss3847414251 | Apr 26, 2020 (154) |
| 168 | SGDP_PRJ | ss3875910060 | Apr 26, 2020 (154) |
| 169 | KRGDB | ss3924155219 | Apr 26, 2020 (154) |
| 170 | KOGIC | ss3969444282 | Apr 26, 2020 (154) |
| 171 | FSA-LAB | ss3983999143 | Apr 26, 2021 (155) |
| 172 | EVA | ss3984648348 | Apr 26, 2021 (155) |
| 173 | EVA | ss3984648349 | Apr 26, 2021 (155) |
| 174 | EVA | ss3985526498 | Apr 26, 2021 (155) |
| 175 | EVA | ss3986519821 | Apr 26, 2021 (155) |
| 176 | EVA | ss4017530352 | Apr 26, 2021 (155) |
| 177 | TOPMED | ss4879424522 | Apr 26, 2021 (155) |
| 178 | TOMMO_GENOMICS | ss5201227254 | Apr 26, 2021 (155) |
| 179 | EVA | ss5236892714 | Apr 26, 2021 (155) |
| 180 | 1000Genomes | NC_000011.9 - 27679916 | Oct 12, 2018 (152) |
| 181 | The Avon Longitudinal Study of Parents and Children | NC_000011.9 - 27679916 | Oct 12, 2018 (152) |
| 182 | Chileans | NC_000011.9 - 27679916 | Apr 26, 2020 (154) |
| 183 | Genome-wide autozygosity in Daghestan | NC_000011.8 - 27636492 | Apr 26, 2020 (154) |
| 184 | Genetic variation in the Estonian population | NC_000011.9 - 27679916 | Oct 12, 2018 (152) |
| 185 | ExAC | NC_000011.9 - 27679916 | Oct 12, 2018 (152) |
| 186 | FINRISK | NC_000011.9 - 27679916 | Apr 26, 2020 (154) |
| 187 | The Danish reference pan genome | NC_000011.9 - 27679916 | Apr 26, 2020 (154) |
| 188 | gnomAD - Genomes | NC_000011.10 - 27658369 | Apr 26, 2021 (155) |
| 189 | gnomAD - Exomes | NC_000011.9 - 27679916 | Jul 13, 2019 (153) |
| 190 | Genome of the Netherlands Release 5 | NC_000011.9 - 27679916 | Apr 26, 2020 (154) |
| 191 | HGDP-CEPH-db Supplement 1 | NC_000011.8 - 27636492 | Apr 26, 2020 (154) |
| 192 | HapMap | NC_000011.10 - 27658369 | Apr 26, 2020 (154) |
| 193 | KOREAN population from KRGDB | NC_000011.9 - 27679916 | Apr 26, 2020 (154) |
| 194 | Korean Genome Project | NC_000011.10 - 27658369 | Apr 26, 2020 (154) |
| 195 | Medical Genome Project healthy controls from Spanish population | NC_000011.9 - 27679916 | Apr 26, 2020 (154) |
| 196 | Northern Sweden | NC_000011.9 - 27679916 | Jul 13, 2019 (153) |
| 197 | The PAGE Study | NC_000011.10 - 27658369 | Jul 13, 2019 (153) |
| 198 | Ancient Sardinia genome-wide 1240k capture data generation and analysis | NC_000011.9 - 27679916 | Apr 26, 2021 (155) |
| 199 |
CNV burdens in cranial meningiomas
Submission ignored due to conflicting rows: |
- | Apr 26, 2021 (155) |
| 200 |
CNV burdens in cranial meningiomas
Submission ignored due to conflicting rows: |
- | Apr 26, 2021 (155) |
| 201 | Qatari | NC_000011.9 - 27679916 | Apr 26, 2020 (154) |
| 202 | SGDP_PRJ | NC_000011.9 - 27679916 | Apr 26, 2020 (154) |
| 203 | Siberian | NC_000011.9 - 27679916 | Apr 26, 2020 (154) |
| 204 | 8.3KJPN | NC_000011.9 - 27679916 | Apr 26, 2021 (155) |
| 205 | TopMed | NC_000011.10 - 27658369 | Apr 26, 2021 (155) |
| 206 | UK 10K study - Twins | NC_000011.9 - 27679916 | Oct 12, 2018 (152) |
| 207 | A Vietnamese Genetic Variation Database | NC_000011.9 - 27679916 | Jul 13, 2019 (153) |
| 208 | ALFA | NC_000011.10 - 27658369 | Apr 26, 2021 (155) |
| 209 | ClinVar | RCV000019267.5 | Apr 26, 2020 (154) |
| 210 | ClinVar | RCV000155463.2 | Oct 12, 2018 (152) |
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).
| Associated ID | History Updated (Build) |
|---|---|
| rs3829232 | Oct 08, 2002 (108) |
| rs16917222 | Oct 08, 2004 (123) |
| rs17855547 | Mar 10, 2006 (126) |
| rs60760775 | May 26, 2008 (130) |
| rs386602118 | Jul 31, 2014 (136) |
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| 74963, 92143, ss66120185, ss76112437, ss86044520, ss88519571, ss168106615, ss170723311, ss172543408, ss280939109, ss286344166, ss291208569, ss410940482, ss481228852, ss491641794, ss825549065, ss1397603702, ss1598022297, ss1713244242, ss2136776518, ss2635024532, ss3638964746, ss3639482955, ss3642897586, ss3847414251 | NC_000011.8:27636491:C:T | NC_000011.10:27658368:C:T | (self) |
| 53109772, 29503076, 72020, 20941949, 556161, 70280, 2500229, 8082902, 13161713, 31332613, 402677, 11321490, 752425, 13749450, 27927040, 7406419, 59196561, 29503076, 6555269, ss235499525, ss242143891, ss342321448, ss481252419, ss482238829, ss485409758, ss491015044, ss491448493, ss537344158, ss657957490, ss778938426, ss780896249, ss783150338, ss783582995, ss784106321, ss832409527, ss833044020, ss833634848, ss834400106, ss988346220, ss1067521512, ss1077605940, ss1340608745, ss1426582936, ss1575612641, ss1584073819, ss1626250508, ss1669244541, ss1690304714, ss1711286917, ss1752011944, ss1752011945, ss1917857738, ss1931707520, ss1946306031, ss1946306032, ss1959336449, ss1959336450, ss1967328479, ss2026601482, ss2094790360, ss2095021016, ss2154890065, ss2344365953, ss2627773729, ss2632817982, ss2632817983, ss2632817984, ss2699167918, ss2710732189, ss2738870976, ss2748583287, ss2897700734, ss2984938208, ss2985583329, ss3007801784, ss3021320974, ss3021320975, ss3023066529, ss3349517651, ss3625598510, ss3626628211, ss3626628212, ss3630836302, ss3632980783, ss3633679710, ss3634447257, ss3634447258, ss3635371481, ss3636131800, ss3637122310, ss3637898466, ss3640154596, ss3640154597, ss3644558838, ss3644558839, ss3646423872, ss3651683878, ss3651683879, ss3653710073, ss3675203701, ss3738036625, ss3744082850, ss3744378325, ss3744748154, ss3744748155, ss3749096546, ss3772248191, ss3772248192, ss3824603260, ss3825527377, ss3825542817, ss3825795338, ss3832548482, ss3839825141, ss3875910060, ss3924155219, ss3983999143, ss3984648348, ss3984648349, ss3985526498, ss3986519821, ss4017530352, ss5201227254 | NC_000011.9:27679915:C:T | NC_000011.10:27658368:C:T | (self) |
| RCV000019267.5, RCV000155463.2, 374847171, 578720, 25822283, 836355, 59625618, 94970178, 13625787798, ss244238900, ss263197788, ss2181188897, ss3027099325, ss3140205643, ss3649567984, ss3691459786, ss3725228031, ss3771614886, ss3814448068, ss3845302521, ss3969444282, ss4879424522, ss5236892714 | NC_000011.10:27658368:C:T | NC_000011.10:27658368:C:T | (self) |
| ss16110854, ss19221857, ss19926147, ss20799529 | NT_009237.16:26443855:C:T | NC_000011.10:27658368:C:T | (self) |
| ss76884466 | NT_009237.17:26467156:C:T | NC_000011.10:27658368:C:T | (self) |
| ss7889, ss5015735, ss12586728, ss16257509, ss22886806, ss24149102, ss28509849, ss38790107, ss48423502, ss66654688, ss67448802, ss67800191, ss69313816, ss70861507, ss71448862, ss75492161, ss76872494, ss79218547, ss83347130, ss97463065, ss122526781, ss132391628, ss137760330, ss154356517, ss159532780, ss159722962, ss160769670, ss172111436, ss173991729, ss182258803, ss182258834, ss244304653, ss469415390 | NT_009237.18:27619915:C:T | NC_000011.10:27658368:C:T | (self) |
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 12140781 | Family-based association study of 76 candidate genes in bipolar disorder: BDNF is a potential risk locus. Brain-derived neutrophic factor. | Sklar P et al. | 2002 | Molecular psychiatry |
| 12161822 | The brain-derived neurotrophic factor gene confers susceptibility to bipolar disorder: evidence from a family-based association study. | Neves-Pereira M et al. | 2002 | American journal of human genetics |
| 12553913 | The BDNF val66met polymorphism affects activity-dependent secretion of BDNF and human memory and hippocampal function. | Egan MF et al. | 2003 | Cell |
| 12836135 | Sequence variants of the brain-derived neurotrophic factor (BDNF) gene are strongly associated with obsessive-compulsive disorder. | Hall D et al. | 2003 | American journal of human genetics |
| 12888803 | Met66 in the brain-derived neurotrophic factor (BDNF) precursor is associated with anorexia nervosa restrictive type. | Ribasés M et al. | 2003 | Molecular psychiatry |
| 15115760 | Association of BDNF with anorexia, bulimia and age of onset of weight loss in six European populations. | Ribasés M et al. | 2004 | Human molecular genetics |
| 15337662 | Linkage disequilibrium of the brain-derived neurotrophic factor Val66Met polymorphism in children with a prepubertal and early adolescent bipolar disorder phenotype. | Geller B et al. | 2004 | The American journal of psychiatry |
| 15457498 | Mutation screen of the brain derived neurotrophic factor gene (BDNF): identification of several genetic variants and association studies in patients with obesity, eating disorders, and attention-deficit/hyperactivity disorder. | Friedel S et al. | 2005 | American journal of medical genetics. Part B, Neuropsychiatric genetics |
| 16005437 | Evidence for a relationship between genetic variants at the brain-derived neurotrophic factor (BDNF) locus and major depression. | Schumacher J et al. | 2005 | Biological psychiatry |
| 16152572 | Confirmation of association between the Val66Met polymorphism in the brain-derived neurotrophic factor (BDNF) gene and bipolar I disorder. | Lohoff FW et al. | 2005 | American journal of medical genetics. Part B, Neuropsychiatric genetics |
| 16172806 | The role of G196A polymorphism in the brain-derived neurotrophic factor gene in the cause of Parkinson's disease: a meta-analysis. | Zintzaras E et al. | 2005 | Journal of human genetics |
| 16222333 | Illness-specific association of val66met BDNF polymorphism with performance on Wisconsin Card Sorting Test in bipolar mood disorder. | Rybakowski JK et al. | 2006 | Molecular psychiatry |
| 16344533 | BDNF genetic variants are associated with onset age of familial Parkinson disease: GenePD Study. | Karamohamed S et al. | 2005 | Neurology |
| 16389585 | The Val66Met polymorphism of the brain-derived neurotrophic factor gene is associated with risk for psychosis: evidence from a family-based association study. | Rosa A et al. | 2006 | American journal of medical genetics. Part B, Neuropsychiatric genetics |
| 16497333 | No association between the BDNF Val66Met polymorphism and mood status in a non-clinical community sample of 7389 older adults. | Surtees PG et al. | 2007 | Journal of psychiatric research |
| 16631352 | No association between the brain-derived neurotrophic factor gene and schizophrenia in a Japanese population. | Watanabe Y et al. | 2006 | Schizophrenia research |
| 16741941 | Transmission distortion of BDNF variants to bipolar disorder type I patients from a South American population isolate. | Kremeyer B et al. | 2006 | American journal of medical genetics. Part B, Neuropsychiatric genetics |
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| 29052254 | Genetic polymorphisms associated with smoking behaviour predict the risk of surgery in patients with Crohn's disease. | Lang BM et al. | 2018 | Alimentary pharmacology & therapeutics |
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| 31127785 | Dysregulation of BDNF in Prefrontal Cortex in Alzheimer's Disease. | Aarons T et al. | 2019 | Journal of Alzheimer's disease |
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| 31431610 | Hippocampal volume change following ECT is mediated by rs699947 in the promotor region of VEGF. | Van Den Bossche MJA et al. | 2019 | Translational psychiatry |
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| 31552390 | Placebo effects and the molecular biological components involved. | Cai L et al. | 2019 | General psychiatry |
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| 31611000 | Investigating the potential role of BDNF and PRL genotypes on antidepressant response in depression patients: A prospective inception cohort study in treatment-free patients. | Ochi T et al. | 2019 | Journal of affective disorders |
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| 31787753 | Meta-analytic method reveal a significant association of theBDNF Val66Met variant with smoking persistence based on a large samples. | Zhao H et al. | 2020 | The pharmacogenomics journal |
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| 31839607 | Is Peripheral BDNF Promoter Methylation a Preclinical Biomarker of Dementia? | Fransquet PD et al. | 2020 | Journal of Alzheimer's disease |
| 31934064 | BDNF gene polymorphism and serum level correlate with liver function in patients with hepatitis B-induced cirrhosis. | Shu HC et al. | 2019 | International journal of clinical and experimental pathology |
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| 32063579 | Methylation of Brain Derived Neurotrophic Factor (BDNF) Val66Met CpG site is associated with early onset bipolar disorder. | Nassan M et al. | 2020 | Journal of affective disorders |
| 32066722 | Effects of COMT rs4680 and BDNF rs6265 polymorphisms on brain degree centrality in Han Chinese adults who lost their only child. | Qi R et al. | 2020 | Translational psychiatry |
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| 33096746 | Genetic Landscape of Common Epilepsies: Advancing towards Precision in Treatment. | Thakran S et al. | 2020 | International journal of molecular sciences |
| 33145279 | Genetic polymorphisms in neuroendocrine disorder-related candidate genes associated with pre-pregnancy obesity in gestational diabetes mellitus patients by using a stratification approach. | Lee KW et al. | 2020 | Annals of translational medicine |
| 33182716 | BDNF rs6265 Polymorphism and Its Methylation in Patients with Stroke Undergoing Rehabilitation. | Santoro M et al. | 2020 | International journal of molecular sciences |
| 33188920 | The BDNF Val66Met polymorphism (rs6265) enhances dopamine neuron graft efficacy and side-effect liability in rs6265 knock-in rats. | Mercado NM et al. | 2021 | Neurobiology of disease |
| 33215284 | BDNF rs6265 Variant Alters Outcomes with Levodopa in Early-Stage Parkinson's Disease. | Fischer DL et al. | 2020 | Neurotherapeutics |
| 33262686 | Genetic Polymorphism of <i>ADORA2A</i> Is Associated With the Risk of Epilepsy and Predisposition to Neurologic Comorbidity in Chinese Southern Children. | Fan X et al. | 2020 | Frontiers in neuroscience |
| 33369083 | BDNF VAL66MET polymorphism and memory decline across the spectrum of Alzheimer's disease. | Lim YY et al. | 2021 | Genes, brain, and behavior |
| 33384622 | BDNF Gene's Role in Schizophrenia: From Risk Allele to Methylation Implications. | Fu X et al. | 2020 | Frontiers in psychiatry |
| 33405375 | Association between BDNF rs6265 polymorphisms and postoperative cognitive dysfunction in Chinese Han Population. | Xie S et al. | 2020 | Brain and behavior |
| 33450468 | The relationship between occupational stress, musculoskeletal disorders and the mental health of coal miners: The interaction between BDNF gene, TPH2 gene polymorphism and the environment. | Li X et al. | 2021 | Journal of psychiatric research |
| 33499851 | Association of PICK1 and BDNF variations with increased risk of methamphetamine dependence among Iranian population: a case-control study. | Tajbakhsh A et al. | 2021 | BMC medical genomics |
| 33578508 | Lack of association between BDNF rs6265 polymorphism and risk of type 2 diabetes: A protocol for meta-analysis and trial sequential analysis. | Xie XQ et al. | 2021 | Medicine |
| 33637225 | The BDNF Val<sup>66</sup>Met polymorphism regulates vulnerability to chronic stress and phantom perception. | Vanneste S et al. | 2021 | Progress in brain research |
| 33685039 | The Mediating Effect of Psychological Distress on the Association between BDNF, 5-HTTLPR, and Tinnitus Severity. | Jeong JE et al. | 2021 | Psychiatry investigation |
The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.
Genomic regions, transcripts, and products
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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.