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.
rs1800255
Current Build 155
Released April 9, 2021
- Organism
- Homo sapiens
- Position
-
chr2:188999354 (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
- G>A / G>C / G>T
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
A=0.209717 (55510/264690, TOPMED)A=0.251279 (63366/252174, ALFA)A=0.249105 (54823/220080, GnomAD_exome) (+ 21 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- COL3A1 : Missense Variant
- Publications
- 31 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 | 252174 | G=0.748721 | A=0.251279, T=0.000000 |
| European | Sub | 221198 | G=0.744487 | A=0.255513, T=0.000000 |
| African | Sub | 7990 | G=0.8807 | A=0.1193, T=0.0000 |
| African Others | Sub | 278 | G=0.914 | A=0.086, T=0.000 |
| African American | Sub | 7712 | G=0.8795 | A=0.1205, T=0.0000 |
| Asian | Sub | 3584 | G=0.7374 | A=0.2626, T=0.0000 |
| East Asian | Sub | 2828 | G=0.7373 | A=0.2627, T=0.0000 |
| Other Asian | Sub | 756 | G=0.738 | A=0.262, T=0.000 |
| Latin American 1 | Sub | 1280 | G=0.7844 | A=0.2156, T=0.0000 |
| Latin American 2 | Sub | 2292 | G=0.7408 | A=0.2592, T=0.0000 |
| South Asian | Sub | 332 | G=0.711 | A=0.289, T=0.000 |
| Other | Sub | 15498 | G=0.74274 | A=0.25726, T=0.00000 |
Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").
Download| Study | Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|---|
| TopMed | Global | Study-wide | 264690 | G=0.790283 | A=0.209717 |
| Allele Frequency Aggregator | Total | Global | 252174 | G=0.748721 | A=0.251279, T=0.000000 |
| Allele Frequency Aggregator | European | Sub | 221198 | G=0.744487 | A=0.255513, T=0.000000 |
| Allele Frequency Aggregator | Other | Sub | 15498 | G=0.74274 | A=0.25726, T=0.00000 |
| Allele Frequency Aggregator | African | Sub | 7990 | G=0.8807 | A=0.1193, T=0.0000 |
| Allele Frequency Aggregator | Asian | Sub | 3584 | G=0.7374 | A=0.2626, T=0.0000 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 2292 | G=0.7408 | A=0.2592, T=0.0000 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 1280 | G=0.7844 | A=0.2156, T=0.0000 |
| Allele Frequency Aggregator | South Asian | Sub | 332 | G=0.711 | A=0.289, T=0.000 |
| gnomAD - Exomes | Global | Study-wide | 220080 | G=0.750895 | A=0.249105 |
| gnomAD - Exomes | European | Sub | 115602 | G=0.747003 | A=0.252997 |
| gnomAD - Exomes | Asian | Sub | 44408 | G=0.72408 | A=0.27592 |
| gnomAD - Exomes | American | Sub | 31144 | G=0.76326 | A=0.23674 |
| gnomAD - Exomes | African | Sub | 13934 | G=0.88446 | A=0.11554 |
| gnomAD - Exomes | Ashkenazi Jewish | Sub | 9476 | G=0.6970 | A=0.3030 |
| gnomAD - Exomes | Other | Sub | 5516 | G=0.7337 | A=0.2663 |
| gnomAD - Genomes | Global | Study-wide | 140056 | G=0.789199 | A=0.210801 |
| gnomAD - Genomes | European | Sub | 75864 | G=0.74790 | A=0.25210 |
| gnomAD - Genomes | African | Sub | 41958 | G=0.87959 | A=0.12041 |
| gnomAD - Genomes | American | Sub | 13636 | G=0.76657 | A=0.23343 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3322 | G=0.7002 | A=0.2998 |
| gnomAD - Genomes | East Asian | Sub | 3128 | G=0.7788 | A=0.2212 |
| gnomAD - Genomes | Other | Sub | 2148 | G=0.7784 | A=0.2216 |
| The PAGE Study | Global | Study-wide | 78694 | G=0.80791 | A=0.19209 |
| The PAGE Study | AfricanAmerican | Sub | 32512 | G=0.87641 | A=0.12359 |
| The PAGE Study | Mexican | Sub | 10810 | G=0.75957 | A=0.24043 |
| The PAGE Study | Asian | Sub | 8316 | G=0.7348 | A=0.2652 |
| The PAGE Study | PuertoRican | Sub | 7918 | G=0.7689 | A=0.2311 |
| The PAGE Study | NativeHawaiian | Sub | 4532 | G=0.7763 | A=0.2237 |
| The PAGE Study | Cuban | Sub | 4230 | G=0.7671 | A=0.2329 |
| The PAGE Study | Dominican | Sub | 3828 | G=0.8101 | A=0.1899 |
| The PAGE Study | CentralAmerican | Sub | 2450 | G=0.7698 | A=0.2302 |
| The PAGE Study | SouthAmerican | Sub | 1982 | G=0.6771 | A=0.3229 |
| The PAGE Study | NativeAmerican | Sub | 1260 | G=0.7722 | A=0.2278 |
| The PAGE Study | SouthAsian | Sub | 856 | G=0.711 | A=0.289 |
| ExAC | Global | Study-wide | 69064 | G=0.67959 | A=0.32041 |
| ExAC | Europe | Sub | 41048 | G=0.66546 | A=0.33454 |
| ExAC | Asian | Sub | 16560 | G=0.66437 | A=0.33563 |
| ExAC | African | Sub | 5926 | G=0.8405 | A=0.1595 |
| ExAC | American | Sub | 4980 | G=0.6568 | A=0.3432 |
| ExAC | Other | Sub | 550 | G=0.664 | A=0.336 |
| 8.3KJPN | JAPANESE | Study-wide | 16760 | G=0.71879 | A=0.28121 |
| 1000Genomes | Global | Study-wide | 5008 | G=0.7815 | A=0.2185 |
| 1000Genomes | African | Sub | 1322 | G=0.8949 | A=0.1051 |
| 1000Genomes | East Asian | Sub | 1008 | G=0.7669 | A=0.2331 |
| 1000Genomes | Europe | Sub | 1006 | G=0.7376 | A=0.2624 |
| 1000Genomes | South Asian | Sub | 978 | G=0.713 | A=0.287 |
| 1000Genomes | American | Sub | 694 | G=0.748 | A=0.252 |
| Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | G=0.7710 | A=0.2290 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | G=0.7561 | A=0.2439 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | G=0.7576 | A=0.2424 |
| KOREAN population from KRGDB | KOREAN | Study-wide | 2930 | G=0.7317 | A=0.2683, C=0.0000 |
| Korean Genome Project | KOREAN | Study-wide | 1832 | G=0.7478 | A=0.2522 |
| HapMap | Global | Study-wide | 1558 | G=0.8203 | A=0.1797 |
| HapMap | American | Sub | 648 | G=0.773 | A=0.227 |
| HapMap | African | Sub | 572 | G=0.925 | A=0.075 |
| HapMap | Europe | Sub | 174 | G=0.759 | A=0.241 |
| HapMap | Asian | Sub | 164 | G=0.707 | A=0.293 |
| Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | G=0.742 | A=0.258 |
| CNV burdens in cranial meningiomas | Global | Study-wide | 790 | G=0.794 | A=0.206 |
| CNV burdens in cranial meningiomas | CRM | Sub | 790 | G=0.794 | A=0.206 |
| A Vietnamese Genetic Variation Database | Global | Study-wide | 614 | G=0.837 | A=0.163 |
| Northern Sweden | ACPOP | Study-wide | 600 | G=0.835 | A=0.165 |
| Medical Genome Project healthy controls from Spanish population | Spanish controls | Study-wide | 534 | G=0.813 | A=0.187 |
| FINRISK | Finnish from FINRISK project | Study-wide | 286 | G=0.727 | A=0.273 |
| SGDP_PRJ | Global | Study-wide | 244 | G=0.443 | A=0.557 |
| Qatari | Global | Study-wide | 216 | G=0.736 | A=0.264 |
| The Danish reference pan genome | Danish | Study-wide | 40 | G=0.68 | A=0.33 |
| Siberian | Global | Study-wide | 26 | G=0.46 | A=0.54 |
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 2 | NC_000002.12:g.188999354G>A |
| GRCh38.p13 chr 2 | NC_000002.12:g.188999354G>C |
| GRCh38.p13 chr 2 | NC_000002.12:g.188999354G>T |
| GRCh37.p13 chr 2 | NC_000002.11:g.189864080G>A |
| GRCh37.p13 chr 2 | NC_000002.11:g.189864080G>C |
| GRCh37.p13 chr 2 | NC_000002.11:g.189864080G>T |
| COL3A1 RefSeqGene (LRG_3) | NG_007404.1:g.29982G>A |
| COL3A1 RefSeqGene (LRG_3) | NG_007404.1:g.29982G>C |
| COL3A1 RefSeqGene (LRG_3) | NG_007404.1:g.29982G>T |
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| COL3A1 transcript | NM_000090.4:c.2092G>A | A [GCT] > T [ACT] | Coding Sequence Variant |
| collagen alpha-1(III) chain preproprotein | NP_000081.2:p.Ala698Thr | A (Ala) > T (Thr) | Missense Variant |
| COL3A1 transcript | NM_000090.4:c.2092G>C | A [GCT] > P [CCT] | Coding Sequence Variant |
| collagen alpha-1(III) chain preproprotein | NP_000081.2:p.Ala698Pro | A (Ala) > P (Pro) | Missense Variant |
| COL3A1 transcript | NM_000090.4:c.2092G>T | A [GCT] > S [TCT] | Coding Sequence Variant |
| collagen alpha-1(III) chain preproprotein | NP_000081.2:p.Ala698Ser | A (Ala) > S (Ser) | Missense 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 |
|---|---|---|
| RCV000018745.2 | COLLAGEN TYPE III POLYMORPHISM | Benign |
| RCV000177438.6 | not specified | Benign |
| RCV000251322.1 | Cardiovascular phenotype | Benign |
| RCV000395000.2 | Ehlers-Danlos syndrome, type 4 | Benign |
| RCV000775991.1 | Familial thoracic aortic aneurysm and aortic dissection | Benign |
| RCV001283245.1 | none provided | 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 | G= | A | C | T |
|---|---|---|---|---|
| GRCh38.p13 chr 2 | NC_000002.12:g.188999354= | NC_000002.12:g.188999354G>A | NC_000002.12:g.188999354G>C | NC_000002.12:g.188999354G>T |
| GRCh37.p13 chr 2 | NC_000002.11:g.189864080= | NC_000002.11:g.189864080G>A | NC_000002.11:g.189864080G>C | NC_000002.11:g.189864080G>T |
| COL3A1 RefSeqGene (LRG_3) | NG_007404.1:g.29982= | NG_007404.1:g.29982G>A | NG_007404.1:g.29982G>C | NG_007404.1:g.29982G>T |
| COL3A1 transcript | NM_000090.4:c.2092= | NM_000090.4:c.2092G>A | NM_000090.4:c.2092G>C | NM_000090.4:c.2092G>T |
| COL3A1 transcript | NM_000090.3:c.2092= | NM_000090.3:c.2092G>A | NM_000090.3:c.2092G>C | NM_000090.3:c.2092G>T |
| collagen alpha-1(III) chain preproprotein | NP_000081.2:p.Ala698= | NP_000081.2:p.Ala698Thr | NP_000081.2:p.Ala698Pro | NP_000081.2:p.Ala698Ser |
| collagen alpha-1(III) chain preproprotein | NP_000081.1:p.Ala698= | NP_000081.1:p.Ala698Thr | NP_000081.1:p.Ala698Pro | NP_000081.1:p.Ala698Ser |
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 | HGBASE | ss2420328 | Nov 14, 2000 (89) |
| 2 | YUSUKE | ss5003731 | Aug 28, 2002 (110) |
| 3 | WIPGA | ss16338437 | Feb 27, 2004 (120) |
| 4 | IMCJ-GDT | ss22886917 | Apr 05, 2004 (121) |
| 5 | PERLEGEN | ss24314634 | Sep 20, 2004 (123) |
| 6 | APPLERA_GI | ss48423012 | Mar 15, 2006 (126) |
| 7 | UCSF_HG | ss52051129 | Oct 15, 2006 (127) |
| 8 | ILLUMINA | ss65725866 | Oct 15, 2006 (127) |
| 9 | PERLEGEN | ss68838491 | May 17, 2007 (127) |
| 10 | AFFY | ss74807132 | Aug 16, 2007 (128) |
| 11 | ILLUMINA | ss74874758 | Dec 06, 2007 (129) |
| 12 | CGM_KYOTO | ss76874293 | Dec 06, 2007 (129) |
| 13 | HGSV | ss77658378 | Dec 06, 2007 (129) |
| 14 | BCMHGSC_JDW | ss91484011 | Mar 24, 2008 (129) |
| 15 | 1000GENOMES | ss110465211 | Jan 24, 2009 (130) |
| 16 | ILLUMINA | ss120036628 | Dec 01, 2009 (131) |
| 17 | ENSEMBL | ss138598881 | Dec 01, 2009 (131) |
| 18 | SEATTLESEQ | ss159703318 | Dec 01, 2009 (131) |
| 19 | ILLUMINA | ss160462784 | Dec 01, 2009 (131) |
| 20 | COMPLETE_GENOMICS | ss165750204 | Jul 04, 2010 (132) |
| 21 | COMPLETE_GENOMICS | ss167493201 | Jul 04, 2010 (132) |
| 22 | ILLUMINA | ss172924548 | Jul 04, 2010 (132) |
| 23 | BUSHMAN | ss201517195 | Jul 04, 2010 (132) |
| 24 | RSG_UW | ss212964958 | Jul 04, 2010 (132) |
| 25 | 1000GENOMES | ss219716358 | Jul 14, 2010 (132) |
| 26 | 1000GENOMES | ss231517660 | Jul 14, 2010 (132) |
| 27 | 1000GENOMES | ss238994908 | Jul 15, 2010 (132) |
| 28 | ILLUMINA | ss244285003 | Jul 04, 2010 (132) |
| 29 | OMIM-CURATED-RECORDS | ss275514261 | Nov 22, 2010 (133) |
| 30 | GMI | ss276833643 | May 04, 2012 (137) |
| 31 | NHLBI-ESP | ss342090513 | May 09, 2011 (134) |
| 32 | ILLUMINA | ss480300316 | May 04, 2012 (137) |
| 33 | ILLUMINA | ss480311417 | May 04, 2012 (137) |
| 34 | ILLUMINA | ss481066926 | Sep 08, 2015 (146) |
| 35 | ILLUMINA | ss484947969 | May 04, 2012 (137) |
| 36 | 1000GENOMES | ss489844053 | May 04, 2012 (137) |
| 37 | EXOME_CHIP | ss491328877 | May 04, 2012 (137) |
| 38 | ILLUMINA | ss535522161 | Sep 08, 2015 (146) |
| 39 | TISHKOFF | ss556108397 | Apr 25, 2013 (138) |
| 40 | SSMP | ss649771366 | Apr 25, 2013 (138) |
| 41 | ILLUMINA | ss780808442 | Sep 08, 2015 (146) |
| 42 | ILLUMINA | ss782920293 | Sep 08, 2015 (146) |
| 43 | ILLUMINA | ss783490175 | Sep 08, 2015 (146) |
| 44 | ILLUMINA | ss783883331 | Sep 08, 2015 (146) |
| 45 | ILLUMINA | ss832175417 | Sep 08, 2015 (146) |
| 46 | ILLUMINA | ss833923521 | Sep 08, 2015 (146) |
| 47 | EVA-GONL | ss977770773 | Aug 21, 2014 (142) |
| 48 | JMKIDD_LAB | ss1067443558 | Aug 21, 2014 (142) |
| 49 | JMKIDD_LAB | ss1069799001 | Aug 21, 2014 (142) |
| 50 | 1000GENOMES | ss1300902146 | Aug 21, 2014 (142) |
| 51 | DDI | ss1428856981 | Apr 01, 2015 (144) |
| 52 | EVA_GENOME_DK | ss1579249593 | Apr 01, 2015 (144) |
| 53 | EVA_FINRISK | ss1584022782 | Apr 01, 2015 (144) |
| 54 | EVA_DECODE | ss1587215820 | Apr 01, 2015 (144) |
| 55 | EVA_UK10K_ALSPAC | ss1605401634 | Apr 01, 2015 (144) |
| 56 | EVA_UK10K_TWINSUK | ss1648395667 | Apr 01, 2015 (144) |
| 57 | EVA_EXAC | ss1686651834 | Apr 01, 2015 (144) |
| 58 | EVA_MGP | ss1710990691 | Apr 01, 2015 (144) |
| 59 | EVA_SVP | ss1712517898 | Apr 01, 2015 (144) |
| 60 | ILLUMINA | ss1752329685 | Sep 08, 2015 (146) |
| 61 | ILLUMINA | ss1917757707 | Feb 12, 2016 (147) |
| 62 | WEILL_CORNELL_DGM | ss1921018717 | Feb 12, 2016 (147) |
| 63 | ILLUMINA | ss1946061703 | Feb 12, 2016 (147) |
| 64 | ILLUMINA | ss1958489631 | Feb 12, 2016 (147) |
| 65 | GENOMED | ss1968981030 | Jul 19, 2016 (147) |
| 66 | JJLAB | ss2021050320 | Sep 14, 2016 (149) |
| 67 | USC_VALOUEV | ss2149115003 | Dec 20, 2016 (150) |
| 68 | HUMAN_LONGEVITY | ss2237577231 | Dec 20, 2016 (150) |
| 69 | TOPMED | ss2404011377 | Dec 20, 2016 (150) |
| 70 | ILLUMINA | ss2633718527 | Nov 08, 2017 (151) |
| 71 | GRF | ss2703757791 | Nov 08, 2017 (151) |
| 72 | GNOMAD | ss2733201667 | Nov 08, 2017 (151) |
| 73 | GNOMAD | ss2746841824 | Nov 08, 2017 (151) |
| 74 | GNOMAD | ss2784181497 | Nov 08, 2017 (151) |
| 75 | AFFY | ss2985194958 | Nov 08, 2017 (151) |
| 76 | SWEGEN | ss2991059610 | Nov 08, 2017 (151) |
| 77 | ILLUMINA | ss3022052095 | Nov 08, 2017 (151) |
| 78 | EVA_SAMSUNG_MC | ss3023058793 | Nov 08, 2017 (151) |
| 79 | BIOINF_KMB_FNS_UNIBA | ss3024286121 | Nov 08, 2017 (151) |
| 80 | TOPMED | ss3333417462 | Nov 08, 2017 (151) |
| 81 | CSHL | ss3344662014 | Nov 08, 2017 (151) |
| 82 | ILLUMINA | ss3628247187 | Oct 11, 2018 (152) |
| 83 | ILLUMINA | ss3628247188 | Oct 11, 2018 (152) |
| 84 | ILLUMINA | ss3631679476 | Oct 11, 2018 (152) |
| 85 | ILLUMINA | ss3633228714 | Oct 11, 2018 (152) |
| 86 | ILLUMINA | ss3633941662 | Oct 11, 2018 (152) |
| 87 | ILLUMINA | ss3634804205 | Oct 11, 2018 (152) |
| 88 | ILLUMINA | ss3634804206 | Oct 11, 2018 (152) |
| 89 | ILLUMINA | ss3635627211 | Oct 11, 2018 (152) |
| 90 | ILLUMINA | ss3636493499 | Oct 11, 2018 (152) |
| 91 | ILLUMINA | ss3637379221 | Oct 11, 2018 (152) |
| 92 | ILLUMINA | ss3638308493 | Oct 11, 2018 (152) |
| 93 | ILLUMINA | ss3640511504 | Oct 11, 2018 (152) |
| 94 | ILLUMINA | ss3640511505 | Oct 11, 2018 (152) |
| 95 | ILLUMINA | ss3641118593 | Oct 11, 2018 (152) |
| 96 | ILLUMINA | ss3641414677 | Oct 11, 2018 (152) |
| 97 | ILLUMINA | ss3643273956 | Oct 11, 2018 (152) |
| 98 | ILLUMINA | ss3644764365 | Oct 11, 2018 (152) |
| 99 | OMUKHERJEE_ADBS | ss3646276215 | Oct 11, 2018 (152) |
| 100 | ILLUMINA | ss3652499710 | Oct 11, 2018 (152) |
| 101 | ILLUMINA | ss3653962215 | Oct 11, 2018 (152) |
| 102 | EGCUT_WGS | ss3658941288 | Jul 13, 2019 (153) |
| 103 | EVA_DECODE | ss3705658669 | Jul 13, 2019 (153) |
| 104 | ILLUMINA | ss3725856466 | Jul 13, 2019 (153) |
| 105 | ACPOP | ss3729214044 | Jul 13, 2019 (153) |
| 106 | ILLUMINA | ss3744484830 | Jul 13, 2019 (153) |
| 107 | ILLUMINA | ss3745104040 | Jul 13, 2019 (153) |
| 108 | ILLUMINA | ss3745104041 | Jul 13, 2019 (153) |
| 109 | EVA | ss3757865143 | Jul 13, 2019 (153) |
| 110 | PAGE_CC | ss3770973462 | Jul 13, 2019 (153) |
| 111 | ILLUMINA | ss3772600595 | Jul 13, 2019 (153) |
| 112 | KHV_HUMAN_GENOMES | ss3802223653 | Jul 13, 2019 (153) |
| 113 | EVA | ss3823837768 | Apr 25, 2020 (154) |
| 114 | EVA | ss3825520111 | Apr 25, 2020 (154) |
| 115 | EVA | ss3825615198 | Apr 25, 2020 (154) |
| 116 | EVA | ss3827414726 | Apr 25, 2020 (154) |
| 117 | EVA | ss3837126561 | Apr 25, 2020 (154) |
| 118 | EVA | ss3842547241 | Apr 25, 2020 (154) |
| 119 | SGDP_PRJ | ss3854218625 | Apr 25, 2020 (154) |
| 120 | KRGDB | ss3899883242 | Apr 25, 2020 (154) |
| 121 | KOGIC | ss3949724261 | Apr 25, 2020 (154) |
| 122 | FSA-LAB | ss3984196972 | Apr 26, 2021 (155) |
| 123 | EVA | ss3984495360 | Apr 26, 2021 (155) |
| 124 | EVA | ss3986208105 | Apr 26, 2021 (155) |
| 125 | EVA | ss4017040208 | Apr 26, 2021 (155) |
| 126 | TOPMED | ss4537975448 | Apr 26, 2021 (155) |
| 127 | TOMMO_GENOMICS | ss5155653245 | Apr 26, 2021 (155) |
| 128 | EVA | ss5236976728 | Apr 26, 2021 (155) |
| 129 | 1000Genomes | NC_000002.11 - 189864080 | Oct 11, 2018 (152) |
| 130 | The Avon Longitudinal Study of Parents and Children | NC_000002.11 - 189864080 | Oct 11, 2018 (152) |
| 131 | Genetic variation in the Estonian population | NC_000002.11 - 189864080 | Oct 11, 2018 (152) |
| 132 | ExAC | NC_000002.11 - 189864080 | Oct 11, 2018 (152) |
| 133 | FINRISK | NC_000002.11 - 189864080 | Apr 25, 2020 (154) |
| 134 | The Danish reference pan genome | NC_000002.11 - 189864080 | Apr 25, 2020 (154) |
| 135 | gnomAD - Genomes | NC_000002.12 - 188999354 | Apr 26, 2021 (155) |
| 136 | gnomAD - Exomes | NC_000002.11 - 189864080 | Jul 13, 2019 (153) |
| 137 | Genome of the Netherlands Release 5 | NC_000002.11 - 189864080 | Apr 25, 2020 (154) |
| 138 | HapMap | NC_000002.12 - 188999354 | Apr 25, 2020 (154) |
| 139 | KOREAN population from KRGDB | NC_000002.11 - 189864080 | Apr 25, 2020 (154) |
| 140 | Korean Genome Project | NC_000002.12 - 188999354 | Apr 25, 2020 (154) |
| 141 | Medical Genome Project healthy controls from Spanish population | NC_000002.11 - 189864080 | Apr 25, 2020 (154) |
| 142 | Northern Sweden | NC_000002.11 - 189864080 | Jul 13, 2019 (153) |
| 143 | The PAGE Study | NC_000002.12 - 188999354 | Jul 13, 2019 (153) |
| 144 | CNV burdens in cranial meningiomas | NC_000002.11 - 189864080 | Apr 26, 2021 (155) |
| 145 | Qatari | NC_000002.11 - 189864080 | Apr 25, 2020 (154) |
| 146 | SGDP_PRJ | NC_000002.11 - 189864080 | Apr 25, 2020 (154) |
| 147 | Siberian | NC_000002.11 - 189864080 | Apr 25, 2020 (154) |
| 148 | 8.3KJPN | NC_000002.11 - 189864080 | Apr 26, 2021 (155) |
| 149 | TopMed | NC_000002.12 - 188999354 | Apr 26, 2021 (155) |
| 150 | UK 10K study - Twins | NC_000002.11 - 189864080 | Oct 11, 2018 (152) |
| 151 | A Vietnamese Genetic Variation Database | NC_000002.11 - 189864080 | Jul 13, 2019 (153) |
| 152 | ALFA | NC_000002.12 - 188999354 | Apr 26, 2021 (155) |
| 153 | ClinVar | RCV000018745.2 | Oct 11, 2018 (152) |
| 154 | ClinVar | RCV000177438.6 | Apr 26, 2021 (155) |
| 155 | ClinVar | RCV000251322.1 | Oct 11, 2018 (152) |
| 156 | ClinVar | RCV000395000.2 | Apr 26, 2021 (155) |
| 157 | ClinVar | RCV000775991.1 | Jul 13, 2019 (153) |
| 158 | ClinVar | RCV001283245.1 | Apr 26, 2021 (155) |
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) |
|---|---|
| rs3817316 | Dec 16, 2002 (110) |
| rs17831227 | Oct 07, 2004 (123) |
| rs52832986 | Sep 21, 2007 (128) |
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| ss77658378 | NC_000002.9:189689585:G:A | NC_000002.12:188999353:G:A | (self) |
| ss91484011, ss110465211, ss165750204, ss167493201, ss201517195, ss276833643, ss480300316, ss1587215820, ss1712517898, ss3643273956 | NC_000002.10:189572324:G:A | NC_000002.12:188999353:G:A | (self) |
| 11978467, 6618765, 4679536, 6549567, 19243, 5414532, 2263711, 2908005, 7060636, 107230, 2498909, 44696, 3060647, 6235605, 1631357, 13622552, 6618765, 1443160, ss219716358, ss231517660, ss238994908, ss342090513, ss480311417, ss481066926, ss484947969, ss489844053, ss491328877, ss535522161, ss556108397, ss649771366, ss780808442, ss782920293, ss783490175, ss783883331, ss832175417, ss833923521, ss977770773, ss1067443558, ss1069799001, ss1300902146, ss1428856981, ss1579249593, ss1584022782, ss1605401634, ss1648395667, ss1686651834, ss1710990691, ss1752329685, ss1917757707, ss1921018717, ss1946061703, ss1958489631, ss1968981030, ss2021050320, ss2149115003, ss2404011377, ss2633718527, ss2703757791, ss2733201667, ss2746841824, ss2784181497, ss2985194958, ss2991059610, ss3022052095, ss3023058793, ss3344662014, ss3628247187, ss3628247188, ss3631679476, ss3633228714, ss3633941662, ss3634804205, ss3634804206, ss3635627211, ss3636493499, ss3637379221, ss3638308493, ss3640511504, ss3640511505, ss3641118593, ss3641414677, ss3644764365, ss3646276215, ss3652499710, ss3653962215, ss3658941288, ss3729214044, ss3744484830, ss3745104040, ss3745104041, ss3757865143, ss3772600595, ss3823837768, ss3825520111, ss3825615198, ss3827414726, ss3837126561, ss3854218625, ss3899883242, ss3984196972, ss3984495360, ss3986208105, ss4017040208, ss5155653245 | NC_000002.11:189864079:G:A | NC_000002.12:188999353:G:A | (self) |
| RCV000018745.2, RCV000177438.6, RCV000251322.1, RCV000395000.2, RCV000775991.1, RCV001283245.1, 85377119, 1974200, 6102262, 194931, 213322543, 341798327, 7850810581, ss275514261, ss2237577231, ss3024286121, ss3333417462, ss3705658669, ss3725856466, ss3770973462, ss3802223653, ss3842547241, ss3949724261, ss4537975448, ss5236976728 | NC_000002.12:188999353:G:A | NC_000002.12:188999353:G:A | (self) |
| ss2420328, ss5003731, ss16338437, ss22886917, ss24314634, ss48423012, ss52051129, ss65725866, ss68838491, ss74807132, ss74874758, ss76874293, ss120036628, ss138598881, ss159703318, ss160462784, ss172924548, ss212964958, ss244285003 | NT_005403.17:40073497:G:A | NC_000002.12:188999353:G:A | (self) |
| 7060636, ss3899883242 | NC_000002.11:189864079:G:C | NC_000002.12:188999353:G:C | (self) |
| 7850810581 | NC_000002.12:188999353:G:T | NC_000002.12:188999353:G:T |
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 |
|---|---|---|---|---|
| 2235526 | G to A polymorphism in exon 31 of the COL3A1 gene. | Zafarullah K et al. | 1990 | Nucleic acids research |
| 18642782 | [Correlation of COL3A1 gene with type III collagen stability in intracranial aneurysm]. | Hua T et al. | 2008 | Zhonghua yi xue za zhi |
| 18722615 | Collagen type 3 alpha 1 polymorphism and risk of pelvic organ prolapse. | Chen HY et al. | 2008 | International journal of gynaecology and obstetrics |
| 19398442 | Collagen type III alpha I is a gastro-oesophageal reflux disease susceptibility gene and a male risk factor for hiatus hernia. | Asling B et al. | 2009 | Gut |
| 19444361 | COL3A1 2209G>A is a predictor of pelvic organ prolapse. | Kluivers KB et al. | 2009 | International urogynecology journal and pelvic floor dysfunction |
| 21219851 | A novel mutation screening system for Ehlers-Danlos Syndrome, vascular type by high-resolution melting curve analysis in combination with small amplicon genotyping using genomic DNA. | Naing BT et al. | 2011 | Biochemical and biophysical research communications |
| 22241462 | A functional variant of the collagen type III alpha1 gene modify risk of sporadic intracranial aneurysms. | Chen J et al. | 2012 | Human genetics |
| 22879966 | Systematic testing of literature reported genetic variation associated with coronary restenosis: results of the GENDER Study. | Verschuren JJ et al. | 2012 | PloS one |
| 22894972 | Collagen genes and exercise-associated muscle cramping. | O'Connell K et al. | 2013 | Clinical journal of sport medicine |
| 24033266 | A systematic approach to assessing the clinical significance of genetic variants. | Duzkale H et al. | 2013 | Clinical genetics |
| 24194833 | Using information interaction to discover epistatic effects in complex diseases. | Anunciação O et al. | 2013 | PloS one |
| 24664438 | Variants of COL3A1 are associated with the risk of stroke recurrence and prognosis in the Chinese population: a prospective study. | Lv W et al. | 2014 | Journal of molecular neuroscience |
| 24721264 | Genetic epidemiology of pelvic organ prolapse: a systematic review. | Ward RM et al. | 2014 | American journal of obstetrics and gynecology |
| 24760181 | Collagen type III alpha 1 polymorphism (rs1800255, COL3A1 2209 G>A) assessed with high-resolution melting analysis is not associated with pelvic organ prolapse in the Dutch population. | Lince SL et al. | 2014 | International urogynecology journal |
| 25073002 | Interactions between collagen gene variants and risk of anterior cruciate ligament rupture. | O'Connell K et al. | 2015 | European journal of sport science |
| 25111588 | Systematic review and metaanalysis of genetic association studies of urinary symptoms and prolapse in women. | Cartwright R et al. | 2015 | American journal of obstetrics and gynecology |
| 25741868 | Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. | Richards S et al. | 2015 | Genetics in medicine |
| 27277665 | Genetic risk factors for restenosis after percutaneous coronary intervention in Kazakh population. | Zholdybayeva EV et al. | 2016 | Human genomics |
| 27874104 | Identifying mutations in Tunisian families with retinal dystrophy. | Habibi I et al. | 2016 | Scientific reports |
| 28102489 | Genetic Variants and Anterior Cruciate Ligament Rupture: A Systematic Review. | Kaynak M et al. | 2017 | Sports medicine (Auckland, N.Z.) |
| 28394528 | [Female pelvic floor dysfunction from the perspectives of genetic studies]. | Akulenko LV et al. | 2017 | Urologiia (Moscow, Russia |
| 29086084 | The association between collagen gene polymorphisms and intracranial aneurysms: a meta-analysis. | Meng Q et al. | 2019 | Neurosurgical review |
| 29376591 | [Association of polymorphism of 1800255 COL3A1 gene with pelvic organ prolapse and urinary incontinence in women: preliminary data]. | Kasyan GR et al. | 2017 | Urologiia (Moscow, Russia |
| 29498185 | Collagen type III and elastin genes polymorphism and the risk of nonsyndromic striae. | Kasielska-Trojan A et al. | 2019 | Journal of cosmetic dermatology |
| 29533249 | A Variant of COL3A1 (rs3134646) Is Associated With Risk of Developing Diverticulosis in White Men. | Reichert MC et al. | 2018 | Diseases of the colon and rectum |
| 30121816 | Genetic Risk Factors for Intracranial Aneurysm in the Kazakh Population. | Zholdybayeva EV et al. | 2018 | Journal of molecular neuroscience |
| 30182779 | Genetic susceptibility to cerebrovascular disease: A systematic review. | Griessenauer CJ et al. | 2018 | Journal of cerebral blood flow and metabolism |
| 30485117 | No Association Between Risk of Anterior Cruciate Ligament Rupture and Selected Candidate Collagen Gene Variants in Female Elite Athletes From High-Risk Team Sports. | Sivertsen EA et al. | 2019 | The American journal of sports medicine |
| 31041498 | Polymorphism rs1800255 from COL3A1 gene and the risk for pelvic organ prolapse. | Teixeira FH et al. | 2020 | International urogynecology journal |
| 32240281 | Epistasis of polymorphisms related to the articular cartilage extracellular matrix in knee osteoarthritis: Analysis-based multifactor dimensionality reduction. | Fernández-Torres J et al. | 2020 | Genetics and molecular biology |
| 32692893 | Collagen I and collagen III polymorphisms in women with pelvic organ prolapse. | Batista NC et al. | 2020 | Neurourology and urodynamics |
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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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.