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.
rs2619522
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr6:15653418 (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
- A>C / A>G
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
C=0.257675 (68204/264690, TOPMED)C=0.193380 (47093/243526, ALFA)C=0.257516 (36062/140038, GnomAD) (+ 20 more)
- Clinical Significance
- Not Reported in ClinVar
- Gene : Consequence
- DTNBP1 : Intron Variant
- Publications
- 33 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 |
|---|---|---|---|---|
| Total | Global | 248562 | A=0.805328 | C=0.194672, G=0.000000 |
| European | Sub | 220104 | A=0.809390 | C=0.190610, G=0.000000 |
| African | Sub | 7648 | A=0.6404 | C=0.3596, G=0.0000 |
| African Others | Sub | 284 | A=0.609 | C=0.391, G=0.000 |
| African American | Sub | 7364 | A=0.6416 | C=0.3584, G=0.0000 |
| Asian | Sub | 3840 | A=0.8995 | C=0.1005, G=0.0000 |
| East Asian | Sub | 3116 | A=0.9047 | C=0.0953, G=0.0000 |
| Other Asian | Sub | 724 | A=0.877 | C=0.123, G=0.000 |
| Latin American 1 | Sub | 986 | A=0.754 | C=0.246, G=0.000 |
| Latin American 2 | Sub | 6470 | A=0.8297 | C=0.1703, G=0.0000 |
| South Asian | Sub | 330 | A=0.806 | C=0.194, G=0.000 |
| Other | Sub | 9184 | A=0.7943 | C=0.2057, G=0.0000 |
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 | A=0.742325 | C=0.257675 |
| Allele Frequency Aggregator | Total | Global | 243526 | A=0.806620 | C=0.193380, G=0.000000 |
| Allele Frequency Aggregator | European | Sub | 217010 | A=0.809465 | C=0.190535, G=0.000000 |
| Allele Frequency Aggregator | Other | Sub | 8384 | A=0.7990 | C=0.2010, G=0.0000 |
| Allele Frequency Aggregator | African | Sub | 6506 | A=0.6519 | C=0.3481, G=0.0000 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 6470 | A=0.8297 | C=0.1703, G=0.0000 |
| Allele Frequency Aggregator | Asian | Sub | 3840 | A=0.8995 | C=0.1005, G=0.0000 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 986 | A=0.754 | C=0.246, G=0.000 |
| Allele Frequency Aggregator | South Asian | Sub | 330 | A=0.806 | C=0.194, G=0.000 |
| gnomAD - Genomes | Global | Study-wide | 140038 | A=0.742484 | C=0.257516 |
| gnomAD - Genomes | European | Sub | 75862 | A=0.79827 | C=0.20173 |
| gnomAD - Genomes | African | Sub | 41938 | A=0.60425 | C=0.39575 |
| gnomAD - Genomes | American | Sub | 13638 | A=0.79315 | C=0.20685 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3324 | A=0.8424 | C=0.1576 |
| gnomAD - Genomes | East Asian | Sub | 3126 | A=0.8996 | C=0.1004 |
| gnomAD - Genomes | Other | Sub | 2150 | A=0.7665 | C=0.2335 |
| The PAGE Study | Global | Study-wide | 78688 | A=0.72491 | C=0.27509 |
| The PAGE Study | AfricanAmerican | Sub | 32504 | A=0.60737 | C=0.39263 |
| The PAGE Study | Mexican | Sub | 10808 | A=0.80311 | C=0.19689 |
| The PAGE Study | Asian | Sub | 8318 | A=0.9066 | C=0.0934 |
| The PAGE Study | PuertoRican | Sub | 7918 | A=0.7436 | C=0.2564 |
| The PAGE Study | NativeHawaiian | Sub | 4534 | A=0.8928 | C=0.1072 |
| The PAGE Study | Cuban | Sub | 4230 | A=0.7700 | C=0.2300 |
| The PAGE Study | Dominican | Sub | 3828 | A=0.7108 | C=0.2892 |
| The PAGE Study | CentralAmerican | Sub | 2450 | A=0.7759 | C=0.2241 |
| The PAGE Study | SouthAmerican | Sub | 1982 | A=0.8169 | C=0.1831 |
| The PAGE Study | NativeAmerican | Sub | 1260 | A=0.7690 | C=0.2310 |
| The PAGE Study | SouthAsian | Sub | 856 | A=0.790 | C=0.210 |
| 14KJPN | JAPANESE | Study-wide | 28258 | A=0.91670 | C=0.08330 |
| 8.3KJPN | JAPANESE | Study-wide | 16760 | A=0.91659 | C=0.08341 |
| 1000Genomes_30x | Global | Study-wide | 6404 | A=0.7494 | C=0.2506 |
| 1000Genomes_30x | African | Sub | 1786 | A=0.5784 | C=0.4216 |
| 1000Genomes_30x | Europe | Sub | 1266 | A=0.8112 | C=0.1888 |
| 1000Genomes_30x | South Asian | Sub | 1202 | A=0.7662 | C=0.2338 |
| 1000Genomes_30x | East Asian | Sub | 1170 | A=0.9094 | C=0.0906 |
| 1000Genomes_30x | American | Sub | 980 | A=0.769 | C=0.231 |
| 1000Genomes | Global | Study-wide | 5008 | A=0.7578 | C=0.2422 |
| 1000Genomes | African | Sub | 1322 | A=0.5772 | C=0.4228 |
| 1000Genomes | East Asian | Sub | 1008 | A=0.9117 | C=0.0883 |
| 1000Genomes | Europe | Sub | 1006 | A=0.8141 | C=0.1859 |
| 1000Genomes | South Asian | Sub | 978 | A=0.775 | C=0.225 |
| 1000Genomes | American | Sub | 694 | A=0.772 | C=0.228 |
| Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | A=0.8038 | C=0.1962 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | A=0.8088 | C=0.1912 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | A=0.7980 | C=0.2020 |
| KOREAN population from KRGDB | KOREAN | Study-wide | 2922 | A=0.9103 | C=0.0897 |
| HapMap | Global | Study-wide | 1892 | A=0.7299 | C=0.2701 |
| HapMap | American | Sub | 770 | A=0.809 | C=0.191 |
| HapMap | African | Sub | 692 | A=0.555 | C=0.445 |
| HapMap | Asian | Sub | 254 | A=0.909 | C=0.091 |
| HapMap | Europe | Sub | 176 | A=0.812 | C=0.188 |
| Korean Genome Project | KOREAN | Study-wide | 1832 | A=0.9001 | C=0.0999 |
| Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | A=0.792 | C=0.208 |
| CNV burdens in cranial meningiomas | Global | Study-wide | 792 | A=0.922 | C=0.078 |
| CNV burdens in cranial meningiomas | CRM | Sub | 792 | A=0.922 | C=0.078 |
| Northern Sweden | ACPOP | Study-wide | 600 | A=0.790 | C=0.210 |
| SGDP_PRJ | Global | Study-wide | 218 | A=0.417 | C=0.583 |
| Qatari | Global | Study-wide | 216 | A=0.694 | C=0.306 |
| A Vietnamese Genetic Variation Database | Global | Study-wide | 210 | A=0.933 | C=0.067 |
| The Danish reference pan genome | Danish | Study-wide | 40 | A=0.82 | C=0.17 |
| Siberian | Global | Study-wide | 10 | A=0.5 | C=0.5 |
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 6 | NC_000006.12:g.15653418A>C |
| GRCh38.p14 chr 6 | NC_000006.12:g.15653418A>G |
| GRCh37.p13 chr 6 | NC_000006.11:g.15653649A>C |
| GRCh37.p13 chr 6 | NC_000006.11:g.15653649A>G |
| DTNBP1 RefSeqGene (LRG_588) | NG_009309.1:g.14623T>G |
| DTNBP1 RefSeqGene (LRG_588) | NG_009309.1:g.14623T>C |
Gene: DTNBP1, dystrobrevin binding protein 1
(minus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| DTNBP1 transcript variant 3 |
NM_001271667.2:c.-232-127… NM_001271667.2:c.-232-1278T>G |
N/A | Intron Variant |
| DTNBP1 transcript variant 5 |
NM_001271668.2:c.57-1278T… NM_001271668.2:c.57-1278T>G |
N/A | Intron Variant |
| DTNBP1 transcript variant 6 |
NM_001271669.2:c.56+9396T… NM_001271669.2:c.56+9396T>G |
N/A | Intron Variant |
| DTNBP1 transcript variant 1 | NM_032122.5:c.57-1278T>G | N/A | Intron Variant |
| DTNBP1 transcript variant 2 | NM_183040.2:c.57-1278T>G | N/A | Intron Variant |
| DTNBP1 transcript variant 4 | NR_036448.3:n. | N/A | Intron Variant |
| DTNBP1 transcript variant X1 |
XM_047419394.1:c.18-1278T… XM_047419394.1:c.18-1278T>G |
N/A | Intron Variant |
| DTNBP1 transcript variant X2 |
XM_047419395.1:c.18-1278T… XM_047419395.1:c.18-1278T>G |
N/A | Intron Variant |
| DTNBP1 transcript variant X3 | XM_011514937.3:c. | N/A | Genic Upstream Transcript 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 | A= | C | G |
|---|---|---|---|
| GRCh38.p14 chr 6 | NC_000006.12:g.15653418= | NC_000006.12:g.15653418A>C | NC_000006.12:g.15653418A>G |
| GRCh37.p13 chr 6 | NC_000006.11:g.15653649= | NC_000006.11:g.15653649A>C | NC_000006.11:g.15653649A>G |
| DTNBP1 RefSeqGene (LRG_588) | NG_009309.1:g.14623= | NG_009309.1:g.14623T>G | NG_009309.1:g.14623T>C |
| DTNBP1 transcript variant 3 | NM_001271667.1:c.-232-1278= | NM_001271667.1:c.-232-1278T>G | NM_001271667.1:c.-232-1278T>C |
| DTNBP1 transcript variant 3 | NM_001271667.2:c.-232-1278= | NM_001271667.2:c.-232-1278T>G | NM_001271667.2:c.-232-1278T>C |
| DTNBP1 transcript variant 5 | NM_001271668.1:c.57-1278= | NM_001271668.1:c.57-1278T>G | NM_001271668.1:c.57-1278T>C |
| DTNBP1 transcript variant 5 | NM_001271668.2:c.57-1278= | NM_001271668.2:c.57-1278T>G | NM_001271668.2:c.57-1278T>C |
| DTNBP1 transcript variant 6 | NM_001271669.1:c.56+9396= | NM_001271669.1:c.56+9396T>G | NM_001271669.1:c.56+9396T>C |
| DTNBP1 transcript variant 6 | NM_001271669.2:c.56+9396= | NM_001271669.2:c.56+9396T>G | NM_001271669.2:c.56+9396T>C |
| DTNBP1 transcript variant 1 | NM_032122.4:c.57-1278= | NM_032122.4:c.57-1278T>G | NM_032122.4:c.57-1278T>C |
| DTNBP1 transcript variant 1 | NM_032122.5:c.57-1278= | NM_032122.5:c.57-1278T>G | NM_032122.5:c.57-1278T>C |
| DTNBP1 transcript variant 2 | NM_183040.2:c.57-1278= | NM_183040.2:c.57-1278T>G | NM_183040.2:c.57-1278T>C |
| DTNBP1 transcript variant X1 | XM_005249447.1:c.18-1278= | XM_005249447.1:c.18-1278T>G | XM_005249447.1:c.18-1278T>C |
| DTNBP1 transcript variant X1 | XM_047419394.1:c.18-1278= | XM_047419394.1:c.18-1278T>G | XM_047419394.1:c.18-1278T>C |
| DTNBP1 transcript variant X2 | XM_047419395.1:c.18-1278= | XM_047419395.1:c.18-1278T>G | XM_047419395.1:c.18-1278T>C |
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#.
115 SubSNP,
22 Frequency
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | SC_JCM | ss3688084 | Sep 28, 2001 (100) |
| 2 | SC_SNP | ss13089709 | Dec 05, 2003 (119) |
| 3 | CSHL-HAPMAP | ss17142975 | Feb 27, 2004 (120) |
| 4 | PERLEGEN | ss23308746 | Sep 20, 2004 (123) |
| 5 | ABI | ss44758211 | Mar 14, 2006 (126) |
| 6 | ILLUMINA | ss65796228 | Oct 16, 2006 (127) |
| 7 | ILLUMINA | ss74994668 | Dec 06, 2007 (129) |
| 8 | KRIBB_YJKIM | ss80764675 | Dec 15, 2007 (130) |
| 9 | BCMHGSC_JDW | ss93401794 | Mar 24, 2008 (129) |
| 10 | 1000GENOMES | ss113947071 | Jan 25, 2009 (130) |
| 11 | KRIBB_YJKIM | ss119440752 | Dec 01, 2009 (131) |
| 12 | ENSEMBL | ss143754990 | Dec 01, 2009 (131) |
| 13 | ILLUMINA | ss160564233 | Dec 01, 2009 (131) |
| 14 | COMPLETE_GENOMICS | ss162064187 | Jul 04, 2010 (132) |
| 15 | COMPLETE_GENOMICS | ss163185829 | Jul 04, 2010 (132) |
| 16 | COMPLETE_GENOMICS | ss166201118 | Jul 04, 2010 (132) |
| 17 | ILLUMINA | ss173409972 | Jul 04, 2010 (132) |
| 18 | BCM-HGSC-SUB | ss207642292 | Jul 04, 2010 (132) |
| 19 | 1000GENOMES | ss222228226 | Jul 14, 2010 (132) |
| 20 | 1000GENOMES | ss233336931 | Jul 14, 2010 (132) |
| 21 | 1000GENOMES | ss240419247 | Jul 15, 2010 (132) |
| 22 | GMI | ss285345564 | Apr 25, 2013 (138) |
| 23 | PJP | ss293795568 | May 09, 2011 (134) |
| 24 | ILLUMINA | ss480619361 | May 04, 2012 (137) |
| 25 | ILLUMINA | ss480633966 | May 04, 2012 (137) |
| 26 | ILLUMINA | ss481471127 | Sep 08, 2015 (146) |
| 27 | ILLUMINA | ss485104777 | May 04, 2012 (137) |
| 28 | ILLUMINA | ss537109769 | Sep 08, 2015 (146) |
| 29 | TISHKOFF | ss559028340 | Apr 25, 2013 (138) |
| 30 | SSMP | ss652936866 | Apr 25, 2013 (138) |
| 31 | ILLUMINA | ss778874378 | Sep 08, 2015 (146) |
| 32 | ILLUMINA | ss782998674 | Sep 08, 2015 (146) |
| 33 | ILLUMINA | ss783959227 | Sep 08, 2015 (146) |
| 34 | ILLUMINA | ss832255700 | Sep 08, 2015 (146) |
| 35 | ILLUMINA | ss834335321 | Sep 08, 2015 (146) |
| 36 | EVA-GONL | ss982618665 | Aug 21, 2014 (142) |
| 37 | JMKIDD_LAB | ss1073407254 | Aug 21, 2014 (142) |
| 38 | 1000GENOMES | ss1319099930 | Aug 21, 2014 (142) |
| 39 | DDI | ss1430648136 | Apr 01, 2015 (144) |
| 40 | EVA_GENOME_DK | ss1581546119 | Apr 01, 2015 (144) |
| 41 | EVA_DECODE | ss1592168407 | Apr 01, 2015 (144) |
| 42 | EVA_UK10K_ALSPAC | ss1615020590 | Apr 01, 2015 (144) |
| 43 | EVA_UK10K_TWINSUK | ss1658014623 | Apr 01, 2015 (144) |
| 44 | EVA_SVP | ss1712838648 | Apr 01, 2015 (144) |
| 45 | ILLUMINA | ss1752611133 | Sep 08, 2015 (146) |
| 46 | HAMMER_LAB | ss1804296313 | Sep 08, 2015 (146) |
| 47 | WEILL_CORNELL_DGM | ss1925875553 | Feb 12, 2016 (147) |
| 48 | ILLUMINA | ss1946168195 | Feb 12, 2016 (147) |
| 49 | ILLUMINA | ss1958866003 | Feb 12, 2016 (147) |
| 50 | JJLAB | ss2023556096 | Sep 14, 2016 (149) |
| 51 | CSHL | ss2136739841 | Nov 08, 2017 (151) |
| 52 | USC_VALOUEV | ss2151719319 | Dec 20, 2016 (150) |
| 53 | HUMAN_LONGEVITY | ss2282045622 | Dec 20, 2016 (150) |
| 54 | SYSTEMSBIOZJU | ss2626265920 | Nov 08, 2017 (151) |
| 55 | ILLUMINA | ss2634404696 | Nov 08, 2017 (151) |
| 56 | GRF | ss2707307396 | Nov 08, 2017 (151) |
| 57 | ILLUMINA | ss2711060856 | Nov 08, 2017 (151) |
| 58 | GNOMAD | ss2836147618 | Nov 08, 2017 (151) |
| 59 | SWEGEN | ss2998568494 | Nov 08, 2017 (151) |
| 60 | ILLUMINA | ss3022578021 | Nov 08, 2017 (151) |
| 61 | BIOINF_KMB_FNS_UNIBA | ss3025563427 | Nov 08, 2017 (151) |
| 62 | CSHL | ss3346851766 | Nov 08, 2017 (151) |
| 63 | ILLUMINA | ss3625894528 | Oct 12, 2018 (152) |
| 64 | ILLUMINA | ss3629451979 | Oct 12, 2018 (152) |
| 65 | ILLUMINA | ss3632324700 | Oct 12, 2018 (152) |
| 66 | ILLUMINA | ss3633407470 | Oct 12, 2018 (152) |
| 67 | ILLUMINA | ss3634129515 | Oct 12, 2018 (152) |
| 68 | ILLUMINA | ss3635045904 | Oct 12, 2018 (152) |
| 69 | ILLUMINA | ss3635810815 | Oct 12, 2018 (152) |
| 70 | ILLUMINA | ss3636761003 | Oct 12, 2018 (152) |
| 71 | ILLUMINA | ss3637563536 | Oct 12, 2018 (152) |
| 72 | ILLUMINA | ss3638608998 | Oct 12, 2018 (152) |
| 73 | ILLUMINA | ss3640753200 | Oct 12, 2018 (152) |
| 74 | ILLUMINA | ss3641191829 | Oct 12, 2018 (152) |
| 75 | ILLUMINA | ss3641488946 | Oct 12, 2018 (152) |
| 76 | ILLUMINA | ss3643550661 | Oct 12, 2018 (152) |
| 77 | ILLUMINA | ss3644901257 | Oct 12, 2018 (152) |
| 78 | ILLUMINA | ss3653086536 | Oct 12, 2018 (152) |
| 79 | EGCUT_WGS | ss3666497873 | Jul 13, 2019 (153) |
| 80 | EVA_DECODE | ss3716650331 | Jul 13, 2019 (153) |
| 81 | ILLUMINA | ss3726313360 | Jul 13, 2019 (153) |
| 82 | ACPOP | ss3733233373 | Jul 13, 2019 (153) |
| 83 | ILLUMINA | ss3744266970 | Jul 13, 2019 (153) |
| 84 | ILLUMINA | ss3745345992 | Jul 13, 2019 (153) |
| 85 | EVA | ss3764653499 | Jul 13, 2019 (153) |
| 86 | PAGE_CC | ss3771264945 | Jul 13, 2019 (153) |
| 87 | ILLUMINA | ss3772839795 | Jul 13, 2019 (153) |
| 88 | KHV_HUMAN_GENOMES | ss3807816323 | Jul 13, 2019 (153) |
| 89 | EVA | ss3829750778 | Apr 26, 2020 (154) |
| 90 | EVA | ss3838350736 | Apr 26, 2020 (154) |
| 91 | EVA | ss3843791179 | Apr 26, 2020 (154) |
| 92 | SGDP_PRJ | ss3863986077 | Apr 26, 2020 (154) |
| 93 | KRGDB | ss3910735617 | Apr 26, 2020 (154) |
| 94 | KOGIC | ss3958565943 | Apr 26, 2020 (154) |
| 95 | EVA | ss3984562069 | Apr 26, 2021 (155) |
| 96 | EVA | ss4017256971 | Apr 26, 2021 (155) |
| 97 | TOPMED | ss4694716252 | Apr 26, 2021 (155) |
| 98 | TOMMO_GENOMICS | ss5176305096 | Apr 26, 2021 (155) |
| 99 | 1000G_HIGH_COVERAGE | ss5267516247 | Oct 13, 2022 (156) |
| 100 | EVA | ss5315124888 | Oct 13, 2022 (156) |
| 101 | EVA | ss5364015366 | Oct 13, 2022 (156) |
| 102 | HUGCELL_USP | ss5465297662 | Oct 13, 2022 (156) |
| 103 | EVA | ss5508356886 | Oct 13, 2022 (156) |
| 104 | 1000G_HIGH_COVERAGE | ss5552992058 | Oct 13, 2022 (156) |
| 105 | SANFORD_IMAGENETICS | ss5624616004 | Oct 13, 2022 (156) |
| 106 | SANFORD_IMAGENETICS | ss5639834219 | Oct 13, 2022 (156) |
| 107 | TOMMO_GENOMICS | ss5714012298 | Oct 13, 2022 (156) |
| 108 | EVA | ss5799677236 | Oct 13, 2022 (156) |
| 109 | YY_MCH | ss5807179592 | Oct 13, 2022 (156) |
| 110 | EVA | ss5841839092 | Oct 13, 2022 (156) |
| 111 | EVA | ss5847284817 | Oct 13, 2022 (156) |
| 112 | EVA | ss5855218666 | Oct 13, 2022 (156) |
| 113 | EVA | ss5882787144 | Oct 13, 2022 (156) |
| 114 | EVA | ss5968334397 | Oct 13, 2022 (156) |
| 115 | EVA | ss5979771482 | Oct 13, 2022 (156) |
| 116 | 1000Genomes | NC_000006.11 - 15653649 | Oct 12, 2018 (152) |
| 117 | 1000Genomes_30x | NC_000006.12 - 15653418 | Oct 13, 2022 (156) |
| 118 | The Avon Longitudinal Study of Parents and Children | NC_000006.11 - 15653649 | Oct 12, 2018 (152) |
| 119 | Genetic variation in the Estonian population | NC_000006.11 - 15653649 | Oct 12, 2018 (152) |
| 120 | The Danish reference pan genome | NC_000006.11 - 15653649 | Apr 26, 2020 (154) |
| 121 | gnomAD - Genomes | NC_000006.12 - 15653418 | Apr 26, 2021 (155) |
| 122 | Genome of the Netherlands Release 5 | NC_000006.11 - 15653649 | Apr 26, 2020 (154) |
| 123 | HapMap | NC_000006.12 - 15653418 | Apr 26, 2020 (154) |
| 124 | KOREAN population from KRGDB | NC_000006.11 - 15653649 | Apr 26, 2020 (154) |
| 125 | Korean Genome Project | NC_000006.12 - 15653418 | Apr 26, 2020 (154) |
| 126 | Northern Sweden | NC_000006.11 - 15653649 | Jul 13, 2019 (153) |
| 127 | The PAGE Study | NC_000006.12 - 15653418 | Jul 13, 2019 (153) |
| 128 | CNV burdens in cranial meningiomas | NC_000006.11 - 15653649 | Apr 26, 2021 (155) |
| 129 | Qatari | NC_000006.11 - 15653649 | Apr 26, 2020 (154) |
| 130 | SGDP_PRJ | NC_000006.11 - 15653649 | Apr 26, 2020 (154) |
| 131 | Siberian | NC_000006.11 - 15653649 | Apr 26, 2020 (154) |
| 132 | 8.3KJPN | NC_000006.11 - 15653649 | Apr 26, 2021 (155) |
| 133 | 14KJPN | NC_000006.12 - 15653418 | Oct 13, 2022 (156) |
| 134 | TopMed | NC_000006.12 - 15653418 | Apr 26, 2021 (155) |
| 135 | UK 10K study - Twins | NC_000006.11 - 15653649 | Oct 12, 2018 (152) |
| 136 | A Vietnamese Genetic Variation Database | NC_000006.11 - 15653649 | Jul 13, 2019 (153) |
| 137 | ALFA | NC_000006.12 - 15653418 | Apr 26, 2021 (155) |
Help
History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).
| Associated ID | History Updated (Build) |
|---|---|
| rs59992850 | May 25, 2008 (130) |
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| ss93401794, ss113947071, ss162064187, ss163185829, ss166201118, ss207642292, ss285345564, ss293795568, ss480619361, ss1592168407, ss1712838648, ss2136739841, ss3643550661 | NC_000006.10:15761627:A:C | NC_000006.12:15653417:A:C | (self) |
| 30848300, 17181083, 12236121, 7711058, 7622719, 17913011, 6518238, 111447, 7917483, 16003057, 4235673, 34274403, 17181083, 3804258, ss222228226, ss233336931, ss240419247, ss480633966, ss481471127, ss485104777, ss537109769, ss559028340, ss652936866, ss778874378, ss782998674, ss783959227, ss832255700, ss834335321, ss982618665, ss1073407254, ss1319099930, ss1430648136, ss1581546119, ss1615020590, ss1658014623, ss1752611133, ss1804296313, ss1925875553, ss1946168195, ss1958866003, ss2023556096, ss2151719319, ss2626265920, ss2634404696, ss2707307396, ss2711060856, ss2836147618, ss2998568494, ss3022578021, ss3346851766, ss3625894528, ss3629451979, ss3632324700, ss3633407470, ss3634129515, ss3635045904, ss3635810815, ss3636761003, ss3637563536, ss3638608998, ss3640753200, ss3641191829, ss3641488946, ss3644901257, ss3653086536, ss3666497873, ss3733233373, ss3744266970, ss3745345992, ss3764653499, ss3772839795, ss3829750778, ss3838350736, ss3863986077, ss3910735617, ss3984562069, ss4017256971, ss5176305096, ss5315124888, ss5364015366, ss5508356886, ss5624616004, ss5639834219, ss5799677236, ss5841839092, ss5847284817, ss5968334397, ss5979771482 | NC_000006.11:15653648:A:C | NC_000006.12:15653417:A:C | (self) |
| 40517993, 218007639, 3068776, 14943944, 486414, 47849402, 532093810, 4475542722, ss2282045622, ss3025563427, ss3716650331, ss3726313360, ss3771264945, ss3807816323, ss3843791179, ss3958565943, ss4694716252, ss5267516247, ss5465297662, ss5552992058, ss5714012298, ss5807179592, ss5855218666, ss5882787144 | NC_000006.12:15653417:A:C | NC_000006.12:15653417:A:C | (self) |
| ss13089709, ss17142975 | NT_007592.13:6511899:A:C | NC_000006.12:15653417:A:C | (self) |
| ss3688084, ss23308746, ss44758211, ss65796228, ss74994668, ss80764675, ss119440752, ss143754990, ss160564233, ss173409972 | NT_007592.15:15593648:A:C | NC_000006.12:15653417:A:C | (self) |
| 4475542722 | NC_000006.12:15653417:A:G | NC_000006.12:15653417:A:G | (self) |
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
33
citations for rs2619522
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 12098102 | Genetic variation in the 6p22.3 gene DTNBP1, the human ortholog of the mouse dysbindin gene, is associated with schizophrenia. | Straub RE et al. | 2002 | American journal of human genetics |
| 12474144 | Support for association of schizophrenia with genetic variation in the 6p22.3 gene, dysbindin, in sib-pair families with linkage and in an additional sample of triad families. | Schwab SG et al. | 2003 | American journal of human genetics |
| 15290652 | A powerful strategy to account for multiple testing in the context of haplotype analysis. | Becker T et al. | 2004 | American journal of human genetics |
| 15362017 | Association of the DTNBP1 locus with schizophrenia in a U.S. population. | Funke B et al. | 2004 | American journal of human genetics |
| 17033966 | Analysis of high-resolution HapMap of DTNBP1 (Dysbindin) suggests no consistency between reported common variant associations and schizophrenia. | Mutsuddi M et al. | 2006 | American journal of human genetics |
| 17074466 | DTNBP1 genotype influences cognitive decline in schizophrenia. | Burdick KE et al. | 2007 | Schizophrenia research |
| 17192893 | Effect of 5-haplotype of dysbindin gene (DTNBP1) polymorphisms for the susceptibility to bipolar I disorder. | Pae CU et al. | 2007 | American journal of medical genetics. Part B, Neuropsychiatric genetics |
| 17264804 | Dysbindin associated with selective serotonin reuptake inhibitor antidepressant efficacy. | Pae CU et al. | 2007 | Pharmacogenetics and genomics |
| 17336946 | Impact of schizophrenia candidate genes on schizotypy and cognitive endophenotypes at the population level. | Stefanis NC et al. | 2007 | Biological psychiatry |
| 17445278 | Association between the DTNBP1 gene and intelligence: a case-control study in young patients with schizophrenia and related disorders and unaffected siblings. | Zinkstok JR et al. | 2007 | Behavioral and brain functions |
| 17888175 | Failure to confirm allelic and haplotypic association between markers at the chromosome 6p22.3 dystrobrevin-binding protein 1 (DTNBP1) locus and schizophrenia. | Datta SR et al. | 2007 | Behavioral and brain functions |
| 17964051 | Is there protective haplotype of dysbindin gene (DTNBP1) 3 polymorphisms for major depressive disorder. | Kim JJ et al. | 2008 | Progress in neuro-psychopharmacology & biological psychiatry |
| 18562100 | DTNBP1 haplotype influences baseline assessment scores of schizophrenic in-patients. | Pae CU et al. | 2008 | Neuroscience letters |
| 18663367 | The dystrobrevin-binding protein 1 gene: features and networks. | Guo AY et al. | 2009 | Molecular psychiatry |
| 18715757 | Genetic associations with schizophrenia: meta-analyses of 12 candidate genes. | Shi J et al. | 2008 | Schizophrenia research |
| 18804346 | Interaction between interleukin 3 and dystrobrevin-binding protein 1 in schizophrenia. | Edwards TL et al. | 2008 | Schizophrenia research |
| 19065121 | Dysbindin gene (DTNBP1) in major depression: association with clinical response to selective serotonin reuptake inhibitors. | Arias B et al. | 2009 | Pharmacogenetics and genomics |
| 19077176 | Variation in the dysbindin gene and normal cognitive function in three independent population samples. | Luciano M et al. | 2009 | Genes, brain, and behavior |
| 19089808 | Association of the dystrobrevin binding protein 1 gene (DTNBP1) in a bipolar case-control study (BACCS). | Gaysina D et al. | 2009 | American journal of medical genetics. Part B, Neuropsychiatric genetics |
| 19252939 | Dysbindin gene (DTNBP1) and schizophrenia in Korean population. | Pae CU et al. | 2009 | European archives of psychiatry and clinical neuroscience |
| 19760674 | No association of dysbindin with symptom factors of schizophrenia in an Irish case-control sample. | Bergen SE et al. | 2010 | American journal of medical genetics. Part B, Neuropsychiatric genetics |
| 19800201 | The dystrobrevin binding protein 1 (DTNBP1) gene is associated with schizophrenia in the Irish Case Control Study of Schizophrenia (ICCSS) sample. | Riley B et al. | 2009 | Schizophrenia research |
| 20046352 | Effect of the dysbindin gene on antimanic agents in patients with bipolar I disorder. | Yun DH et al. | 2008 | Psychiatry investigation |
| 20083391 | A reappraisal of the association between Dysbindin (DTNBP1) and schizophrenia in a large combined case-control and family-based sample of German ancestry. | Strohmaier J et al. | 2010 | Schizophrenia research |
| 20822372 | Dysbindin gene (DTNBP1) in major depressive disorder (MDD) patients: lack of association with clinical phenotypes. | Kocabas NA et al. | 2010 | The world journal of biological psychiatry |
| 21130223 | Meta-analysis of genetic variation in DTNBP1 and general cognitive ability. | Zhang JP et al. | 2010 | Biological psychiatry |
| 21305691 | Dysbindin-1 gene contributes differentially to early- and adult-onset forms of functional psychosis. | Fatjó-Vilas M et al. | 2011 | American journal of medical genetics. Part B, Neuropsychiatric genetics |
| 21789192 | Using an uncertainty-coding matrix in Bayesian regression models for haplotype-specific risk detection in family association studies. | Huang YH et al. | 2011 | PloS one |
| 22580710 | The DTNBP1 (dysbindin-1) gene variant rs2619522 is associated with variation of hippocampal and prefrontal grey matter volumes in humans. | Trost S et al. | 2013 | European archives of psychiatry and clinical neuroscience |
| 25869804 | GWAS for executive function and processing speed suggests involvement of the CADM2 gene. | Ibrahim-Verbaas CA et al. | 2016 | Molecular psychiatry |
| 27895608 | Genetic Consideration of Schizotypal Traits: A Review. | Walter EE et al. | 2016 | Frontiers in psychology |
| 32581860 | Association of DTNBP1 With Schizophrenia: Findings From Two Independent Samples of Han Chinese Population. | Yang Y et al. | 2020 | Frontiers in psychiatry |
| 33679873 | Genetic Effects of the Schizophrenia-Related Gene DTNBP1 in Temporal Lobe Epilepsy. | Tao H et al. | 2021 | Frontiers in genetics |
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.