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.
rs6050
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr4:154586438 (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
- T>A / T>C
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
C=0.293045 (77566/264690, TOPMED)C=0.285560 (71751/251264, GnomAD_exome)C=0.292561 (40872/139704, GnomAD) (+ 25 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- FGA : Missense Variant
- Publications
- 28 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: 20230706150541
| Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|
| Total | Global | 69802 | T=0.73955 | C=0.26045 |
| European | Sub | 48780 | T=0.75207 | C=0.24793 |
| African | Sub | 7794 | T=0.6354 | C=0.3646 |
| African Others | Sub | 298 | T=0.570 | C=0.430 |
| African American | Sub | 7496 | T=0.6379 | C=0.3621 |
| Asian | Sub | 112 | T=0.562 | C=0.438 |
| East Asian | Sub | 86 | T=0.55 | C=0.45 |
| Other Asian | Sub | 26 | T=0.62 | C=0.38 |
| Latin American 1 | Sub | 602 | T=0.729 | C=0.271 |
| Latin American 2 | Sub | 5740 | T=0.7681 | C=0.2319 |
| South Asian | Sub | 98 | T=0.70 | C=0.30 |
| Other | Sub | 6676 | T=0.7496 | C=0.2504 |
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 | T=0.706955 | C=0.293045 |
| gnomAD - Exomes | Global | Study-wide | 251264 | T=0.714440 | C=0.285560 |
| gnomAD - Exomes | European | Sub | 135218 | T=0.735671 | C=0.264329 |
| gnomAD - Exomes | Asian | Sub | 49000 | T=0.62924 | C=0.37076 |
| gnomAD - Exomes | American | Sub | 34588 | T=0.75607 | C=0.24393 |
| gnomAD - Exomes | African | Sub | 16252 | T=0.63106 | C=0.36894 |
| gnomAD - Exomes | Ashkenazi Jewish | Sub | 10074 | T=0.81418 | C=0.18582 |
| gnomAD - Exomes | Other | Sub | 6132 | T=0.7493 | C=0.2507 |
| gnomAD - Genomes | Global | Study-wide | 139704 | T=0.707439 | C=0.292561 |
| gnomAD - Genomes | European | Sub | 75718 | T=0.73688 | C=0.26312 |
| gnomAD - Genomes | African | Sub | 41828 | T=0.64024 | C=0.35976 |
| gnomAD - Genomes | American | Sub | 13588 | T=0.75074 | C=0.24926 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3318 | T=0.8171 | C=0.1829 |
| gnomAD - Genomes | East Asian | Sub | 3108 | T=0.5666 | C=0.4334 |
| gnomAD - Genomes | Other | Sub | 2144 | T=0.7388 | C=0.2612 |
| ExAC | Global | Study-wide | 121348 | T=0.712752 | C=0.287248 |
| ExAC | Europe | Sub | 73326 | T=0.74394 | C=0.25606 |
| ExAC | Asian | Sub | 25142 | T=0.63575 | C=0.36425 |
| ExAC | American | Sub | 11576 | T=0.76123 | C=0.23877 |
| ExAC | African | Sub | 10396 | T=0.62476 | C=0.37524 |
| ExAC | Other | Sub | 908 | T=0.716 | C=0.284 |
| The PAGE Study | Global | Study-wide | 78478 | T=0.68311 | C=0.31689 |
| The PAGE Study | AfricanAmerican | Sub | 32410 | T=0.64221 | C=0.35779 |
| The PAGE Study | Mexican | Sub | 10786 | T=0.75209 | C=0.24791 |
| The PAGE Study | Asian | Sub | 8292 | T=0.5473 | C=0.4527 |
| The PAGE Study | PuertoRican | Sub | 7910 | T=0.7393 | C=0.2607 |
| The PAGE Study | NativeHawaiian | Sub | 4524 | T=0.7546 | C=0.2454 |
| The PAGE Study | Cuban | Sub | 4216 | T=0.7730 | C=0.2270 |
| The PAGE Study | Dominican | Sub | 3820 | T=0.7134 | C=0.2866 |
| The PAGE Study | CentralAmerican | Sub | 2448 | T=0.7659 | C=0.2341 |
| The PAGE Study | SouthAmerican | Sub | 1970 | T=0.7822 | C=0.2178 |
| The PAGE Study | NativeAmerican | Sub | 1254 | T=0.7400 | C=0.2600 |
| The PAGE Study | SouthAsian | Sub | 848 | T=0.654 | C=0.346 |
| Allele Frequency Aggregator | Total | Global | 53552 | T=0.74755 | C=0.25245 |
| Allele Frequency Aggregator | European | Sub | 38782 | T=0.75226 | C=0.24774 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 5740 | T=0.7681 | C=0.2319 |
| Allele Frequency Aggregator | Other | Sub | 5238 | T=0.7560 | C=0.2440 |
| Allele Frequency Aggregator | African | Sub | 2980 | T=0.6440 | C=0.3560 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 602 | T=0.729 | C=0.271 |
| Allele Frequency Aggregator | Asian | Sub | 112 | T=0.562 | C=0.438 |
| Allele Frequency Aggregator | South Asian | Sub | 98 | T=0.70 | C=0.30 |
| 14KJPN | JAPANESE | Study-wide | 28258 | T=0.51741 | C=0.48259 |
| 8.3KJPN | JAPANESE | Study-wide | 16760 | T=0.51730 | C=0.48270 |
| 1000Genomes_30x | Global | Study-wide | 6404 | T=0.6705 | C=0.3295 |
| 1000Genomes_30x | African | Sub | 1786 | T=0.5577 | C=0.4423 |
| 1000Genomes_30x | Europe | Sub | 1266 | T=0.7694 | C=0.2306 |
| 1000Genomes_30x | South Asian | Sub | 1202 | T=0.7404 | C=0.2596 |
| 1000Genomes_30x | East Asian | Sub | 1170 | T=0.5650 | C=0.4350 |
| 1000Genomes_30x | American | Sub | 980 | T=0.789 | C=0.211 |
| 1000Genomes | Global | Study-wide | 5008 | T=0.6729 | C=0.3271 |
| 1000Genomes | African | Sub | 1322 | T=0.5666 | C=0.4334 |
| 1000Genomes | East Asian | Sub | 1008 | T=0.5685 | C=0.4315 |
| 1000Genomes | Europe | Sub | 1006 | T=0.7644 | C=0.2356 |
| 1000Genomes | South Asian | Sub | 978 | T=0.753 | C=0.247 |
| 1000Genomes | American | Sub | 694 | T=0.782 | C=0.218 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | T=0.7434 | C=0.2566 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | T=0.7481 | C=0.2519 |
| KOREAN population from KRGDB | KOREAN | Study-wide | 2930 | T=0.5007 | C=0.4993 |
| HapMap | Global | Study-wide | 1876 | T=0.6546 | C=0.3454 |
| HapMap | American | Sub | 762 | T=0.671 | C=0.329 |
| HapMap | African | Sub | 684 | T=0.656 | C=0.344 |
| HapMap | Asian | Sub | 254 | T=0.528 | C=0.472 |
| HapMap | Europe | Sub | 176 | T=0.761 | C=0.239 |
| Korean Genome Project | KOREAN | Study-wide | 1832 | T=0.5038 | C=0.4962 |
| Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | T=0.737 | C=0.263 |
| PharmGKB Aggregated | Global | Study-wide | 946 | T=0.682 | C=0.318 |
| PharmGKB Aggregated | PA135172483 | Sub | 946 | T=0.682 | C=0.318 |
| CNV burdens in cranial meningiomas | Global | Study-wide | 788 | T=0.497 | C=0.503 |
| CNV burdens in cranial meningiomas | CRM | Sub | 788 | T=0.497 | C=0.503 |
| Chileans | Chilean | Study-wide | 626 | T=0.816 | C=0.184 |
| A Vietnamese Genetic Variation Database | Global | Study-wide | 614 | T=0.588 | C=0.412 |
| Northern Sweden | ACPOP | Study-wide | 600 | T=0.758 | C=0.242 |
| Medical Genome Project healthy controls from Spanish population | Spanish controls | Study-wide | 534 | T=0.800 | C=0.200 |
| FINRISK | Finnish from FINRISK project | Study-wide | 304 | T=0.648 | C=0.352 |
| SGDP_PRJ | Global | Study-wide | 298 | T=0.396 | C=0.604 |
| Qatari | Global | Study-wide | 216 | T=0.755 | C=0.245 |
| Ancient Sardinia genome-wide 1240k capture data generation and analysis | Global | Study-wide | 80 | T=0.70 | C=0.30 |
| The Danish reference pan genome | Danish | Study-wide | 40 | T=0.68 | C=0.33 |
| Siberian | Global | Study-wide | 38 | T=0.37 | C=0.63 |
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 4 | NC_000004.12:g.154586438T>A |
| GRCh38.p14 chr 4 | NC_000004.12:g.154586438T>C |
| GRCh37.p13 chr 4 | NC_000004.11:g.155507590T>A |
| GRCh37.p13 chr 4 | NC_000004.11:g.155507590T>C |
| FGA RefSeqGene (LRG_557) | NG_008832.1:g.9308A>T |
| FGA RefSeqGene (LRG_557) | NG_008832.1:g.9308A>G |
Gene: FGA, fibrinogen alpha chain
(minus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| FGA transcript variant alpha | NM_021871.4:c.991A>T | T [ACT] > S [TCT] | Coding Sequence Variant |
| fibrinogen alpha chain isoform alpha precursor | NP_068657.1:p.Thr331Ser | T (Thr) > S (Ser) | Missense Variant |
| FGA transcript variant alpha | NM_021871.4:c.991A>G | T [ACT] > A [GCT] | Coding Sequence Variant |
| fibrinogen alpha chain isoform alpha precursor | NP_068657.1:p.Thr331Ala | T (Thr) > A (Ala) | Missense Variant |
| FGA transcript variant alpha-E | NM_000508.5:c.991A>T | T [ACT] > S [TCT] | Coding Sequence Variant |
| fibrinogen alpha chain isoform alpha-E preproprotein | NP_000499.1:p.Thr331Ser | T (Thr) > S (Ser) | Missense Variant |
| FGA transcript variant alpha-E | NM_000508.5:c.991A>G | T [ACT] > A [GCT] | Coding Sequence Variant |
| fibrinogen alpha chain isoform alpha-E preproprotein | NP_000499.1:p.Thr331Ala | T (Thr) > A (Ala) | Missense Variant |
Help
Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.
Allele: C (allele ID:
31459
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000017882.5 | Venous thromboembolism, susceptibility to | Risk-Factor |
| RCV000246757.5 | not specified | Benign |
| RCV000338448.3 | Congenital afibrinogenemia | Benign |
| RCV000405212.3 | Familial visceral amyloidosis, Ostertag type | Benign |
| RCV001509235.5 | not provided | Conflicting-Interpretations-Of-Pathogenicity |
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 | T= | A | C |
|---|---|---|---|
| GRCh38.p14 chr 4 | NC_000004.12:g.154586438= | NC_000004.12:g.154586438T>A | NC_000004.12:g.154586438T>C |
| GRCh37.p13 chr 4 | NC_000004.11:g.155507590= | NC_000004.11:g.155507590T>A | NC_000004.11:g.155507590T>C |
| FGA RefSeqGene (LRG_557) | NG_008832.1:g.9308= | NG_008832.1:g.9308A>T | NG_008832.1:g.9308A>G |
| FGA transcript variant alpha-E | NM_000508.5:c.991= | NM_000508.5:c.991A>T | NM_000508.5:c.991A>G |
| FGA transcript variant alpha-E | NM_000508.4:c.991= | NM_000508.4:c.991A>T | NM_000508.4:c.991A>G |
| FGA transcript variant alpha-E | NM_000508.3:c.991= | NM_000508.3:c.991A>T | NM_000508.3:c.991A>G |
| FGA transcript variant alpha | NM_021871.4:c.991= | NM_021871.4:c.991A>T | NM_021871.4:c.991A>G |
| FGA transcript variant alpha | NM_021871.3:c.991= | NM_021871.3:c.991A>T | NM_021871.3:c.991A>G |
| FGA transcript variant alpha | NM_021871.2:c.991= | NM_021871.2:c.991A>T | NM_021871.2:c.991A>G |
| fibrinogen alpha chain isoform alpha-E preproprotein | NP_000499.1:p.Thr331= | NP_000499.1:p.Thr331Ser | NP_000499.1:p.Thr331Ala |
| fibrinogen alpha chain isoform alpha precursor | NP_068657.1:p.Thr331= | NP_068657.1:p.Thr331Ser | NP_068657.1:p.Thr331Ala |
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,
28 Frequency,
5 ClinVar
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | WIAF-CSNP | ss7664 | Sep 19, 2000 (52) |
| 2 | PGA-UW-FHCRC | ss2982181 | Jun 15, 2001 (102) |
| 3 | YUSUKE | ss3191317 | Aug 15, 2001 (102) |
| 4 | CSHL-HAPMAP | ss17810442 | Feb 27, 2004 (120) |
| 5 | SSAHASNP | ss22113977 | Apr 05, 2004 (121) |
| 6 | PERLEGEN | ss24154884 | Sep 20, 2004 (123) |
| 7 | ABI | ss44481717 | Mar 13, 2006 (126) |
| 8 | PGA-UW-FHCRC | ss52087292 | Oct 16, 2006 (127) |
| 9 | PHARMGKB_PARC | ss69366555 | May 18, 2007 (127) |
| 10 | AFFY | ss76840011 | Dec 08, 2007 (130) |
| 11 | CORNELL | ss86270127 | Mar 23, 2008 (129) |
| 12 | HUMANGENOME_JCVI | ss99024163 | Feb 05, 2009 (130) |
| 13 | BGI | ss104132976 | Dec 01, 2009 (131) |
| 14 | KRIBB_YJKIM | ss104807833 | Feb 05, 2009 (130) |
| 15 | 1000GENOMES | ss108473792 | Jan 23, 2009 (130) |
| 16 | ENSEMBL | ss135085533 | Dec 01, 2009 (131) |
| 17 | GMI | ss158083152 | Dec 01, 2009 (131) |
| 18 | SEATTLESEQ | ss159708631 | Dec 01, 2009 (131) |
| 19 | ILLUMINA | ss160760819 | Dec 01, 2009 (131) |
| 20 | COMPLETE_GENOMICS | ss162681061 | Jul 04, 2010 (132) |
| 21 | BUSHMAN | ss199378416 | Jul 04, 2010 (132) |
| 22 | 1000GENOMES | ss211517351 | Jul 14, 2010 (132) |
| 23 | 1000GENOMES | ss221302983 | Jul 14, 2010 (132) |
| 24 | 1000GENOMES | ss232665283 | Jul 14, 2010 (132) |
| 25 | 1000GENOMES | ss239898122 | Jul 15, 2010 (132) |
| 26 | OMICIA | ss244238363 | Aug 29, 2012 (137) |
| 27 | OMIM-CURATED-RECORDS | ss263197842 | Nov 04, 2010 (133) |
| 28 | GMI | ss277999023 | May 04, 2012 (137) |
| 29 | GMI | ss285036950 | Apr 25, 2013 (138) |
| 30 | PJP | ss293229628 | May 09, 2011 (134) |
| 31 | NHLBI-ESP | ss342173610 | May 09, 2011 (134) |
| 32 | ILLUMINA | ss482212202 | Sep 08, 2015 (146) |
| 33 | 1000GENOMES | ss490896338 | May 04, 2012 (137) |
| 34 | EXOME_CHIP | ss491361838 | May 04, 2012 (137) |
| 35 | CLINSEQ_SNP | ss491861206 | May 04, 2012 (137) |
| 36 | TISHKOFF | ss557961334 | Apr 25, 2013 (138) |
| 37 | SSMP | ss651781777 | Apr 25, 2013 (138) |
| 38 | JMKIDD_LAB | ss974454313 | Aug 21, 2014 (142) |
| 39 | EVA-GONL | ss980859145 | Aug 21, 2014 (142) |
| 40 | JMKIDD_LAB | ss1067464942 | Aug 21, 2014 (142) |
| 41 | JMKIDD_LAB | ss1072091634 | Aug 21, 2014 (142) |
| 42 | 1000GENOMES | ss1312502355 | Aug 21, 2014 (142) |
| 43 | EVA_GENOME_DK | ss1580845969 | Apr 01, 2015 (144) |
| 44 | EVA_FINRISK | ss1584036677 | Apr 01, 2015 (144) |
| 45 | EVA_UK10K_ALSPAC | ss1611535087 | Apr 01, 2015 (144) |
| 46 | EVA_UK10K_TWINSUK | ss1654529120 | Apr 01, 2015 (144) |
| 47 | EVA_EXAC | ss1687671794 | Apr 01, 2015 (144) |
| 48 | EVA_MGP | ss1711074301 | Apr 01, 2015 (144) |
| 49 | EVA_SVP | ss1712717605 | Apr 01, 2015 (144) |
| 50 | HAMMER_LAB | ss1802433746 | Sep 08, 2015 (146) |
| 51 | WEILL_CORNELL_DGM | ss1924098200 | Feb 12, 2016 (147) |
| 52 | ILLUMINA | ss1958731970 | Feb 12, 2016 (147) |
| 53 | TMC_SNPDB | ss1997175092 | Jul 19, 2016 (147) |
| 54 | JJLAB | ss2022635443 | Sep 14, 2016 (149) |
| 55 | ILLUMINA | ss2094817108 | Dec 20, 2016 (150) |
| 56 | USC_VALOUEV | ss2150768141 | Dec 20, 2016 (150) |
| 57 | HUMAN_LONGEVITY | ss2268557418 | Dec 20, 2016 (150) |
| 58 | SYSTEMSBIOZJU | ss2625813513 | Nov 08, 2017 (151) |
| 59 | GRF | ss2706265988 | Nov 08, 2017 (151) |
| 60 | GNOMAD | ss2734788885 | Nov 08, 2017 (151) |
| 61 | GNOMAD | ss2747318759 | Nov 08, 2017 (151) |
| 62 | GNOMAD | ss2817236465 | Nov 08, 2017 (151) |
| 63 | AFFY | ss2985306993 | Nov 08, 2017 (151) |
| 64 | AFFY | ss2985934680 | Nov 08, 2017 (151) |
| 65 | SWEGEN | ss2995832572 | Nov 08, 2017 (151) |
| 66 | ILLUMINA | ss3022428633 | Nov 08, 2017 (151) |
| 67 | CSIRBIOHTS | ss3029637476 | Nov 08, 2017 (151) |
| 68 | CSHL | ss3346039961 | Nov 08, 2017 (151) |
| 69 | ILLUMINA | ss3636683656 | Oct 12, 2018 (152) |
| 70 | BIOINF_KMB_FNS_UNIBA | ss3645836193 | Oct 12, 2018 (152) |
| 71 | OMUKHERJEE_ADBS | ss3646313517 | Oct 12, 2018 (152) |
| 72 | URBANLAB | ss3647887930 | Oct 12, 2018 (152) |
| 73 | ILLUMINA | ss3652919266 | Oct 12, 2018 (152) |
| 74 | ILLUMINA | ss3654079064 | Oct 12, 2018 (152) |
| 75 | EVA_DECODE | ss3713393592 | Jul 13, 2019 (153) |
| 76 | ACPOP | ss3731755762 | Jul 13, 2019 (153) |
| 77 | EVA | ss3762618808 | Jul 13, 2019 (153) |
| 78 | PAGE_CC | ss3771162832 | Jul 13, 2019 (153) |
| 79 | KHV_HUMAN_GENOMES | ss3805777739 | Jul 13, 2019 (153) |
| 80 | EVA | ss3824053375 | Apr 26, 2020 (154) |
| 81 | EVA | ss3825665925 | Apr 26, 2020 (154) |
| 82 | EVA | ss3828893328 | Apr 26, 2020 (154) |
| 83 | SGDP_PRJ | ss3860414666 | Apr 26, 2020 (154) |
| 84 | KRGDB | ss3906767191 | Apr 26, 2020 (154) |
| 85 | KOGIC | ss3955443568 | Apr 26, 2020 (154) |
| 86 | FSA-LAB | ss3984295837 | Apr 26, 2021 (155) |
| 87 | FSA-LAB | ss3984295838 | Apr 26, 2021 (155) |
| 88 | EVA | ss3984537294 | Apr 26, 2021 (155) |
| 89 | EVA | ss3985104337 | Apr 26, 2021 (155) |
| 90 | EVA | ss3986294724 | Apr 26, 2021 (155) |
| 91 | TOPMED | ss4638037469 | Apr 26, 2021 (155) |
| 92 | TOMMO_GENOMICS | ss5168783760 | Apr 26, 2021 (155) |
| 93 | EVA | ss5237009720 | Apr 26, 2021 (155) |
| 94 | EVA | ss5237642905 | Oct 13, 2022 (156) |
| 95 | 1000G_HIGH_COVERAGE | ss5261621644 | Oct 13, 2022 (156) |
| 96 | TRAN_CS_UWATERLOO | ss5314411695 | Oct 13, 2022 (156) |
| 97 | EVA | ss5353396393 | Oct 13, 2022 (156) |
| 98 | HUGCELL_USP | ss5460112516 | Oct 13, 2022 (156) |
| 99 | 1000G_HIGH_COVERAGE | ss5544036964 | Oct 13, 2022 (156) |
| 100 | EVA | ss5624143350 | Oct 13, 2022 (156) |
| 101 | SANFORD_IMAGENETICS | ss5624571604 | Oct 13, 2022 (156) |
| 102 | SANFORD_IMAGENETICS | ss5636443256 | Oct 13, 2022 (156) |
| 103 | TOMMO_GENOMICS | ss5703992045 | Oct 13, 2022 (156) |
| 104 | EVA | ss5799423992 | Oct 13, 2022 (156) |
| 105 | EVA | ss5800118646 | Oct 13, 2022 (156) |
| 106 | YY_MCH | ss5805684819 | Oct 13, 2022 (156) |
| 107 | EVA | ss5844949329 | Oct 13, 2022 (156) |
| 108 | EVA | ss5847253723 | Oct 13, 2022 (156) |
| 109 | EVA | ss5848618606 | Oct 13, 2022 (156) |
| 110 | EVA | ss5854514742 | Oct 13, 2022 (156) |
| 111 | EVA | ss5866190074 | Oct 13, 2022 (156) |
| 112 | EVA | ss5936525946 | Oct 13, 2022 (156) |
| 113 | EVA | ss5964850263 | Oct 13, 2022 (156) |
| 114 | EVA | ss5979719274 | Oct 13, 2022 (156) |
| 115 | EVA | ss5980257553 | Oct 13, 2022 (156) |
| 116 | 1000Genomes | NC_000004.11 - 155507590 | Oct 12, 2018 (152) |
| 117 | 1000Genomes_30x | NC_000004.12 - 154586438 | Oct 13, 2022 (156) |
| 118 | The Avon Longitudinal Study of Parents and Children | NC_000004.11 - 155507590 | Oct 12, 2018 (152) |
| 119 | Chileans | NC_000004.11 - 155507590 | Apr 26, 2020 (154) |
| 120 | ExAC | NC_000004.11 - 155507590 | Oct 12, 2018 (152) |
| 121 | FINRISK | NC_000004.11 - 155507590 | Apr 26, 2020 (154) |
| 122 | The Danish reference pan genome | NC_000004.11 - 155507590 | Apr 26, 2020 (154) |
| 123 | gnomAD - Genomes | NC_000004.12 - 154586438 | Apr 26, 2021 (155) |
| 124 | gnomAD - Exomes | NC_000004.11 - 155507590 | Jul 13, 2019 (153) |
| 125 | Genome of the Netherlands Release 5 | NC_000004.11 - 155507590 | Apr 26, 2020 (154) |
| 126 | HapMap | NC_000004.12 - 154586438 | Apr 26, 2020 (154) |
| 127 | KOREAN population from KRGDB | NC_000004.11 - 155507590 | Apr 26, 2020 (154) |
| 128 | Korean Genome Project | NC_000004.12 - 154586438 | Apr 26, 2020 (154) |
| 129 | Medical Genome Project healthy controls from Spanish population | NC_000004.11 - 155507590 | Apr 26, 2020 (154) |
| 130 | Northern Sweden | NC_000004.11 - 155507590 | Jul 13, 2019 (153) |
| 131 | The PAGE Study | NC_000004.12 - 154586438 | Jul 13, 2019 (153) |
| 132 | Ancient Sardinia genome-wide 1240k capture data generation and analysis | NC_000004.11 - 155507590 | Apr 26, 2021 (155) |
| 133 | CNV burdens in cranial meningiomas | NC_000004.11 - 155507590 | Apr 26, 2021 (155) |
| 134 | PharmGKB Aggregated | NC_000004.12 - 154586438 | Apr 26, 2020 (154) |
| 135 | Qatari | NC_000004.11 - 155507590 | Apr 26, 2020 (154) |
| 136 | SGDP_PRJ | NC_000004.11 - 155507590 | Apr 26, 2020 (154) |
| 137 | Siberian | NC_000004.11 - 155507590 | Apr 26, 2020 (154) |
| 138 | 8.3KJPN | NC_000004.11 - 155507590 | Apr 26, 2021 (155) |
| 139 | 14KJPN | NC_000004.12 - 154586438 | Oct 13, 2022 (156) |
| 140 | TopMed | NC_000004.12 - 154586438 | Apr 26, 2021 (155) |
| 141 | UK 10K study - Twins | NC_000004.11 - 155507590 | Oct 12, 2018 (152) |
| 142 | A Vietnamese Genetic Variation Database | NC_000004.11 - 155507590 | Jul 13, 2019 (153) |
| 143 | ALFA | NC_000004.12 - 154586438 | Apr 26, 2021 (155) |
| 144 | ClinVar | RCV000017882.5 | Jul 13, 2019 (153) |
| 145 | ClinVar | RCV000246757.5 | Oct 13, 2022 (156) |
| 146 | ClinVar | RCV000338448.3 | Oct 13, 2022 (156) |
| 147 | ClinVar | RCV000405212.3 | Oct 13, 2022 (156) |
| 148 | ClinVar | RCV001509235.5 | Oct 13, 2022 (156) |
Help
History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).
| Associated ID | History Updated (Build) |
|---|---|
| rs2070019 | Jan 04, 2002 (102) |
| rs2236789 | Jan 04, 2002 (102) |
| rs56492214 | May 25, 2008 (130) |
| rs117998106 | Aug 16, 2010 (132) |
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| ss1997175092 | NC_000004.11:155507589:T:A | NC_000004.12:154586437:T:A | (self) |
| ss76840011, ss108473792, ss160760819, ss162681061, ss199378416, ss211517351, ss277999023, ss285036950, ss293229628, ss491861206, ss1712717605 | NC_000004.10:155727039:T:C | NC_000004.12:154586437:T:C | (self) |
| 24003173, 13350450, 330710, 7651622, 33138, 7010908, 3901157, 5912490, 13944585, 190061, 5040627, 330264, 86657, 6140130, 12431646, 3284495, 26753067, 13350450, 2943558, ss221302983, ss232665283, ss239898122, ss342173610, ss482212202, ss490896338, ss491361838, ss557961334, ss651781777, ss974454313, ss980859145, ss1067464942, ss1072091634, ss1312502355, ss1580845969, ss1584036677, ss1611535087, ss1654529120, ss1687671794, ss1711074301, ss1802433746, ss1924098200, ss1958731970, ss2022635443, ss2094817108, ss2150768141, ss2625813513, ss2706265988, ss2734788885, ss2747318759, ss2817236465, ss2985306993, ss2985934680, ss2995832572, ss3022428633, ss3029637476, ss3346039961, ss3636683656, ss3646313517, ss3652919266, ss3654079064, ss3731755762, ss3762618808, ss3824053375, ss3825665925, ss3828893328, ss3860414666, ss3906767191, ss3984295837, ss3984295838, ss3984537294, ss3985104337, ss3986294724, ss5168783760, ss5353396393, ss5624143350, ss5624571604, ss5636443256, ss5799423992, ss5800118646, ss5844949329, ss5847253723, ss5848618606, ss5936525946, ss5964850263, ss5979719274, ss5980257553 | NC_000004.11:155507589:T:C | NC_000004.12:154586437:T:C | (self) |
| RCV000017882.5, RCV000246757.5, RCV000338448.3, RCV000405212.3, RCV001509235.5, 31562899, 170026710, 2739135, 11821569, 384301, 9786, 37829149, 475415025, 6048234976, ss244238363, ss263197842, ss2268557418, ss3645836193, ss3647887930, ss3713393592, ss3771162832, ss3805777739, ss3955443568, ss4638037469, ss5237009720, ss5237642905, ss5261621644, ss5314411695, ss5460112516, ss5544036964, ss5703992045, ss5805684819, ss5854514742, ss5866190074 | NC_000004.12:154586437:T:C | NC_000004.12:154586437:T:C | (self) |
| ss7664, ss2982181, ss3191317, ss24154884, ss44481717, ss52087292, ss69366555, ss86270127, ss99024163, ss104132976, ss104807833, ss135085533, ss158083152, ss159708631 | NT_016354.19:80055310:T:C | NC_000004.12:154586437:T:C | (self) |
| ss17810442, ss22113977 | NT_016606.16:17055645:T:C | NC_000004.12:154586437:T:C | (self) |
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
28
citations for rs6050
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 10318664 | Association of the alpha-fibrinogen Thr312Ala polymorphism with poststroke mortality in subjects with atrial fibrillation. | Carter AM et al. | 1999 | Circulation |
| 10910940 | alpha-fibrinogen Thr312Ala polymorphism and venous thromboembolism. | Carter AM et al. | 2000 | Blood |
| 16846490 | Lemierre's syndrome and genetic polymorphisms: a case report. | Constantin JM et al. | 2006 | BMC infectious diseases |
| 19552680 | Common hemostasis and inflammation gene variants and venous thrombosis in older adults from the Cardiovascular Health Study. | Reiner AP et al. | 2009 | Journal of thrombosis and haemostasis |
| 19682239 | Replication of findings on the association of genetic variation in 24 hemostasis genes and risk of incident venous thrombosis. | Smith NL et al. | 2009 | Journal of thrombosis and haemostasis |
| 20059469 | Interaction between fibrinogen and IL-6 genetic variants and associations with cardiovascular disease risk in the Cardiovascular Health Study. | Carty CL et al. | 2010 | Annals of human genetics |
| 20416077 | Identification of type 2 diabetes-associated combination of SNPs using support vector machine. | Ban HJ et al. | 2010 | BMC genetics |
| 20978265 | Association of genomic loci from a cardiovascular gene SNP array with fibrinogen levels in European Americans and African-Americans from six cohort studies: the Candidate Gene Association Resource (CARe). | Wassel CL et al. | 2011 | Blood |
| 21502573 | Genetic predictors of fibrin D-dimer levels in healthy adults. | Smith NL et al. | 2011 | Circulation |
| 21757653 | Assessment of genetic determinants of the association of γ' fibrinogen in relation to cardiovascular disease. | Lovely RS et al. | 2011 | Arteriosclerosis, thrombosis, and vascular biology |
| 22267327 | Fibrinogen and factor XIII A-subunit genotypes interactively influence C-reactive protein levels during inflammation. | Hoppe B et al. | 2012 | Annals of the rheumatic diseases |
| 22273812 | Replication and characterisation of genetic variants in the fibrinogen gene cluster with plasma fibrinogen levels and haematological traits in the Third National Health and Nutrition Examination Survey. | Jeff JM et al. | 2012 | Thrombosis and haemostasis |
| 22353194 | Identification of genetic risk variants for deep vein thrombosis by multiplexed next-generation sequencing of 186 hemostatic/pro-inflammatory genes. | Lotta LA et al. | 2012 | BMC medical genomics |
| 22386478 | Fibrinogen polymorphisms associated with sporadic cerebral hemorrhage in a Chinese population. | Zeng Y et al. | 2012 | Journal of clinical neuroscience |
| 23650146 | A genome-wide association study for venous thromboembolism: the extended cohorts for heart and aging research in genomic epidemiology (CHARGE) consortium. | Tang W et al. | 2013 | Genetic epidemiology |
| 23944290 | Association between two functional fibrinogen-related polymorphisms and ischemic stroke: a case-control study. | Zhang J et al. | 2013 | Genetic testing and molecular biomarkers |
| 24908450 | A genetic association study of D-dimer levels with 50K SNPs from a candidate gene chip in four ethnic groups. | Weng LC et al. | 2014 | Thrombosis research |
| 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 |
| 26658659 | Variants of the Coagulation and Inflammation Genes Are Replicably Associated with Myocardial Infarction and Epistatically Interact in Russians. | Barsova RM et al. | 2015 | PloS one |
| 26982741 | Single Nucleotide Variant rs2232710 in the Protein Z-Dependent Protease Inhibitor (ZPI, SERPINA10) Gene Is Not Associated with Deep Vein Thrombosis. | Gorski MM et al. | 2016 | PloS one |
| 27182706 | Exome Sequencing Identifies a Novel LMNA Splice-Site Mutation and Multigenic Heterozygosity of Potential Modifiers in a Family with Sick Sinus Syndrome, Dilated Cardiomyopathy, and Sudden Cardiac Death. | Zaragoza MV et al. | 2016 | PloS one |
| 27266621 | Ischemic Stroke and Six Genetic Variants in CRP, EPHX2, FGA, and NOTCH3 Genes: A Meta-Analysis. | González-Giraldo Y et al. | 2016 | Journal of stroke and cerebrovascular diseases |
| 31420334 | Genomic and transcriptomic association studies identify 16 novel susceptibility loci for venous thromboembolism. | Lindström S et al. | 2019 | Blood |
| 32408093 | Fibrinogen, factor XIII and α(2)-antiplasmin genotypes are associated with inflammatory activity and anti-citrullinated protein antibodies. | Hoppe B et al. | 2020 | Thrombosis research |
| 33317138 | Relation of α(2)-Antiplasmin Genotype and Genetic Determinants of Fibrinogen Synthesis and Fibrin Clot Formation with Vascular Endothelial Growth Factor Level in Axial Spondyloarthritis. | Hoppe B et al. | 2020 | International journal of molecular sciences |
| 33776563 | Association of fibrinogen and plasmin inhibitor, but not coagulation factor XIII gene polymorphisms with coronary artery disease. | Bronić A et al. | 2021 | Journal of medical biochemistry |
| 34061326 | An association between fibrinogen gene polymorphisms and diabetic peripheral neuropathy in young patients with type 1 diabetes. | Vojtková J et al. | 2021 | Molecular biology reports |
| 34783023 | Fibrinogen β chain and FXIII polymorphisms affect fibrin clot properties in acute pulmonary embolism. | Klajmon A et al. | 2022 | European journal of clinical investigation |
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.