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.
rs4750316
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr10:6351298 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
- Alleles
- C>G / C>T
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
C=0.238196 (63048/264690, TOPMED)C=0.240355 (33628/139910, GnomAD)C=0.19481 (16213/83224, ALFA) (+ 20 more)
- Clinical Significance
- Not Reported in ClinVar
- Gene : Consequence
- LINC02656 : Non Coding Transcript Variant
- Publications
- 29 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 | 83224 | C=0.19481 | G=0.80519, T=0.00000 |
| European | Sub | 73348 | C=0.19067 | G=0.80933, T=0.00000 |
| African | Sub | 3292 | C=0.3834 | G=0.6166, T=0.0000 |
| African Others | Sub | 144 | C=0.472 | G=0.528, T=0.000 |
| African American | Sub | 3148 | C=0.3793 | G=0.6207, T=0.0000 |
| Asian | Sub | 3274 | C=0.1069 | G=0.8931, T=0.0000 |
| East Asian | Sub | 2648 | C=0.0921 | G=0.9079, T=0.0000 |
| Other Asian | Sub | 626 | C=0.169 | G=0.831, T=0.000 |
| Latin American 1 | Sub | 436 | C=0.209 | G=0.791, T=0.000 |
| Latin American 2 | Sub | 928 | C=0.136 | G=0.864, T=0.000 |
| South Asian | Sub | 274 | C=0.190 | G=0.810, T=0.000 |
| Other | Sub | 1672 | C=0.2075 | G=0.7925, T=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 | C=0.238196 | G=0.761804 |
| gnomAD - Genomes | Global | Study-wide | 139910 | C=0.240355 | G=0.759645 |
| gnomAD - Genomes | European | Sub | 75810 | C=0.18817 | G=0.81183 |
| gnomAD - Genomes | African | Sub | 41874 | C=0.37813 | G=0.62187 |
| gnomAD - Genomes | American | Sub | 13626 | C=0.15404 | G=0.84596 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3320 | C=0.1819 | G=0.8181 |
| gnomAD - Genomes | East Asian | Sub | 3132 | C=0.1159 | G=0.8841 |
| gnomAD - Genomes | Other | Sub | 2148 | C=0.2155 | G=0.7845 |
| Allele Frequency Aggregator | Total | Global | 83224 | C=0.19481 | G=0.80519, T=0.00000 |
| Allele Frequency Aggregator | European | Sub | 73348 | C=0.19067 | G=0.80933, T=0.00000 |
| Allele Frequency Aggregator | African | Sub | 3292 | C=0.3834 | G=0.6166, T=0.0000 |
| Allele Frequency Aggregator | Asian | Sub | 3274 | C=0.1069 | G=0.8931, T=0.0000 |
| Allele Frequency Aggregator | Other | Sub | 1672 | C=0.2075 | G=0.7925, T=0.0000 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 928 | C=0.136 | G=0.864, T=0.000 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 436 | C=0.209 | G=0.791, T=0.000 |
| Allele Frequency Aggregator | South Asian | Sub | 274 | C=0.190 | G=0.810, T=0.000 |
| The PAGE Study | Global | Study-wide | 78694 | C=0.25509 | G=0.74491 |
| The PAGE Study | AfricanAmerican | Sub | 32512 | C=0.37325 | G=0.62675 |
| The PAGE Study | Mexican | Sub | 10810 | C=0.15143 | G=0.84857 |
| The PAGE Study | Asian | Sub | 8316 | C=0.1253 | G=0.8747 |
| The PAGE Study | PuertoRican | Sub | 7916 | C=0.2131 | G=0.7869 |
| The PAGE Study | NativeHawaiian | Sub | 4534 | C=0.1434 | G=0.8566 |
| The PAGE Study | Cuban | Sub | 4230 | C=0.2111 | G=0.7889 |
| The PAGE Study | Dominican | Sub | 3828 | C=0.2615 | G=0.7385 |
| The PAGE Study | CentralAmerican | Sub | 2450 | C=0.1616 | G=0.8384 |
| The PAGE Study | SouthAmerican | Sub | 1982 | C=0.1251 | G=0.8749 |
| The PAGE Study | NativeAmerican | Sub | 1260 | C=0.1865 | G=0.8135 |
| The PAGE Study | SouthAsian | Sub | 856 | C=0.175 | G=0.825 |
| 14KJPN | JAPANESE | Study-wide | 28258 | C=0.11448 | G=0.88552 |
| 8.3KJPN | JAPANESE | Study-wide | 16760 | C=0.11128 | G=0.88872 |
| 1000Genomes_30x | Global | Study-wide | 6404 | C=0.2219 | G=0.7781 |
| 1000Genomes_30x | African | Sub | 1786 | C=0.3841 | G=0.6159 |
| 1000Genomes_30x | Europe | Sub | 1266 | C=0.1817 | G=0.8183 |
| 1000Genomes_30x | South Asian | Sub | 1202 | C=0.2005 | G=0.7995 |
| 1000Genomes_30x | East Asian | Sub | 1170 | C=0.1171 | G=0.8829 |
| 1000Genomes_30x | American | Sub | 980 | C=0.130 | G=0.870 |
| 1000Genomes | Global | Study-wide | 5008 | C=0.2167 | G=0.7833 |
| 1000Genomes | African | Sub | 1322 | C=0.3926 | G=0.6074 |
| 1000Genomes | East Asian | Sub | 1008 | C=0.1181 | G=0.8819 |
| 1000Genomes | Europe | Sub | 1006 | C=0.1769 | G=0.8231 |
| 1000Genomes | South Asian | Sub | 978 | C=0.189 | G=0.811 |
| 1000Genomes | American | Sub | 694 | C=0.121 | G=0.879 |
| Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | C=0.1886 | G=0.8114 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | C=0.1881 | G=0.8119 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | C=0.1796 | G=0.8204 |
| KOREAN population from KRGDB | KOREAN | Study-wide | 2930 | C=0.1051 | G=0.8949 |
| HapMap | Global | Study-wide | 1890 | C=0.2825 | G=0.7175 |
| HapMap | American | Sub | 770 | C=0.197 | G=0.803 |
| HapMap | African | Sub | 692 | C=0.449 | G=0.551 |
| HapMap | Asian | Sub | 252 | C=0.143 | G=0.857 |
| HapMap | Europe | Sub | 176 | C=0.199 | G=0.801 |
| Genome-wide autozygosity in Daghestan | Global | Study-wide | 1134 | C=0.2152 | G=0.7848 |
| Genome-wide autozygosity in Daghestan | Daghestan | Sub | 628 | C=0.242 | G=0.758 |
| Genome-wide autozygosity in Daghestan | Near_East | Sub | 142 | C=0.155 | G=0.845 |
| Genome-wide autozygosity in Daghestan | Central Asia | Sub | 122 | C=0.148 | G=0.852 |
| Genome-wide autozygosity in Daghestan | Europe | Sub | 108 | C=0.157 | G=0.843 |
| Genome-wide autozygosity in Daghestan | South Asian | Sub | 98 | C=0.21 | G=0.79 |
| Genome-wide autozygosity in Daghestan | Caucasus | Sub | 36 | C=0.39 | G=0.61 |
| Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | C=0.200 | G=0.800 |
| CNV burdens in cranial meningiomas | Global | Study-wide | 790 | C=0.090 | G=0.910 |
| CNV burdens in cranial meningiomas | CRM | Sub | 790 | C=0.090 | G=0.910 |
| Northern Sweden | ACPOP | Study-wide | 600 | C=0.147 | G=0.853 |
| SGDP_PRJ | Global | Study-wide | 514 | C=0.144 | G=0.856 |
| Qatari | Global | Study-wide | 216 | C=0.130 | G=0.870 |
| A Vietnamese Genetic Variation Database | Global | Study-wide | 210 | C=0.090 | G=0.910 |
| Siberian | Global | Study-wide | 56 | C=0.07 | G=0.93 |
| Ancient Sardinia genome-wide 1240k capture data generation and analysis | Global | Study-wide | 54 | C=0.26 | G=0.74 |
| The Danish reference pan genome | Danish | Study-wide | 40 | C=0.17 | G=0.82 |
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 10 | NC_000010.11:g.6351298C>G |
| GRCh38.p14 chr 10 | NC_000010.11:g.6351298C>T |
| GRCh37.p13 chr 10 | NC_000010.10:g.6393260C>G |
| GRCh37.p13 chr 10 | NC_000010.10:g.6393260C>T |
Gene: LINC02656, long intergenic non-protein coding RNA 2656
(plus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| LINC02656 transcript | NR_148966.1:n.983C>G | N/A | Non Coding Transcript Variant |
| LINC02656 transcript | NR_148966.1:n.983C>T | N/A | Non Coding 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 | C= | G | T |
|---|---|---|---|
| GRCh38.p14 chr 10 | NC_000010.11:g.6351298= | NC_000010.11:g.6351298C>G | NC_000010.11:g.6351298C>T |
| GRCh37.p13 chr 10 | NC_000010.10:g.6393260= | NC_000010.10:g.6393260C>G | NC_000010.10:g.6393260C>T |
| LINC02656 transcript | NR_148966.1:n.983= | NR_148966.1:n.983C>G | NR_148966.1:n.983C>T |
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#.
117 SubSNP,
23 Frequency
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | WI_SSAHASNP | ss6550376 | Feb 20, 2003 (111) |
| 2 | SC_SNP | ss16015436 | Feb 27, 2004 (120) |
| 3 | SSAHASNP | ss20639690 | Apr 05, 2004 (121) |
| 4 | AFFY | ss66143448 | Dec 02, 2006 (127) |
| 5 | PERLEGEN | ss69068773 | May 18, 2007 (127) |
| 6 | AFFY | ss76164047 | Dec 07, 2007 (129) |
| 7 | KRIBB_YJKIM | ss82110816 | Dec 17, 2007 (130) |
| 8 | HGSV | ss83029840 | Dec 14, 2007 (130) |
| 9 | BCMHGSC_JDW | ss88081191 | Mar 23, 2008 (129) |
| 10 | HUMANGENOME_JCVI | ss97532751 | Feb 03, 2009 (130) |
| 11 | BGI | ss102850484 | Dec 01, 2009 (131) |
| 12 | 1000GENOMES | ss109197965 | Jan 23, 2009 (130) |
| 13 | 1000GENOMES | ss115306077 | Jan 25, 2009 (130) |
| 14 | ILLUMINA-UK | ss119004321 | Feb 15, 2009 (130) |
| 15 | ENSEMBL | ss131662222 | Dec 01, 2009 (131) |
| 16 | ENSEMBL | ss137959602 | Dec 01, 2009 (131) |
| 17 | ILLUMINA | ss160706647 | Dec 01, 2009 (131) |
| 18 | COMPLETE_GENOMICS | ss167745047 | Jul 04, 2010 (132) |
| 19 | COMPLETE_GENOMICS | ss168980034 | Jul 04, 2010 (132) |
| 20 | COMPLETE_GENOMICS | ss170371375 | Jul 04, 2010 (132) |
| 21 | AFFY | ss172683716 | Jul 04, 2010 (132) |
| 22 | BUSHMAN | ss201098339 | Jul 04, 2010 (132) |
| 23 | BCM-HGSC-SUB | ss207148165 | Jul 04, 2010 (132) |
| 24 | 1000GENOMES | ss224544946 | Jul 14, 2010 (132) |
| 25 | 1000GENOMES | ss235038367 | Jul 15, 2010 (132) |
| 26 | 1000GENOMES | ss241774092 | Jul 15, 2010 (132) |
| 27 | ILLUMINA | ss244301057 | Jul 04, 2010 (132) |
| 28 | BL | ss254026648 | May 09, 2011 (134) |
| 29 | GMI | ss280465025 | May 04, 2012 (137) |
| 30 | GMI | ss286122637 | Apr 25, 2013 (138) |
| 31 | PJP | ss290900309 | May 09, 2011 (134) |
| 32 | ILLUMINA | ss482040879 | Sep 08, 2015 (146) |
| 33 | EXOME_CHIP | ss491432295 | May 04, 2012 (137) |
| 34 | TISHKOFF | ss561745932 | Apr 25, 2013 (138) |
| 35 | SSMP | ss656252113 | Apr 25, 2013 (138) |
| 36 | ILLUMINA | ss780685310 | Aug 21, 2014 (142) |
| 37 | ILLUMINA | ss783358794 | Aug 21, 2014 (142) |
| 38 | EVA-GONL | ss987158017 | Aug 21, 2014 (142) |
| 39 | JMKIDD_LAB | ss1076732235 | Aug 21, 2014 (142) |
| 40 | 1000GENOMES | ss1336132761 | Aug 21, 2014 (142) |
| 41 | HAMMER_LAB | ss1397571545 | Sep 08, 2015 (146) |
| 42 | DDI | ss1426209066 | Apr 01, 2015 (144) |
| 43 | EVA_GENOME_DK | ss1574889893 | Apr 01, 2015 (144) |
| 44 | EVA_DECODE | ss1596806001 | Apr 01, 2015 (144) |
| 45 | EVA_UK10K_ALSPAC | ss1623913201 | Apr 01, 2015 (144) |
| 46 | EVA_UK10K_TWINSUK | ss1666907234 | Apr 01, 2015 (144) |
| 47 | EVA_SVP | ss1713154184 | Apr 01, 2015 (144) |
| 48 | ILLUMINA | ss1751975400 | Sep 08, 2015 (146) |
| 49 | HAMMER_LAB | ss1806238659 | Sep 08, 2015 (146) |
| 50 | ILLUMINA | ss1917844452 | Feb 12, 2016 (147) |
| 51 | WEILL_CORNELL_DGM | ss1930479059 | Feb 12, 2016 (147) |
| 52 | ILLUMINA | ss1946275138 | Feb 12, 2016 (147) |
| 53 | ILLUMINA | ss1959236981 | Feb 12, 2016 (147) |
| 54 | GENOMED | ss1967049716 | Jul 19, 2016 (147) |
| 55 | JJLAB | ss2025962609 | Sep 14, 2016 (149) |
| 56 | ILLUMINA | ss2094858373 | Dec 20, 2016 (150) |
| 57 | ILLUMINA | ss2095005310 | Dec 20, 2016 (150) |
| 58 | ILLUMINA | ss2095005311 | Dec 20, 2016 (150) |
| 59 | USC_VALOUEV | ss2154204669 | Dec 20, 2016 (150) |
| 60 | HUMAN_LONGEVITY | ss2172363667 | Dec 20, 2016 (150) |
| 61 | SYSTEMSBIOZJU | ss2627450237 | Nov 08, 2017 (151) |
| 62 | ILLUMINA | ss2632669937 | Nov 08, 2017 (151) |
| 63 | ILLUMINA | ss2632669938 | Nov 08, 2017 (151) |
| 64 | GRF | ss2698428650 | Nov 08, 2017 (151) |
| 65 | GNOMAD | ss2885112180 | Nov 08, 2017 (151) |
| 66 | AFFY | ss2984904500 | Nov 08, 2017 (151) |
| 67 | SWEGEN | ss3005876712 | Nov 08, 2017 (151) |
| 68 | ILLUMINA | ss3021210890 | Nov 08, 2017 (151) |
| 69 | BIOINF_KMB_FNS_UNIBA | ss3026764806 | Nov 08, 2017 (151) |
| 70 | CSHL | ss3348942269 | Nov 08, 2017 (151) |
| 71 | ILLUMINA | ss3626378361 | Oct 12, 2018 (152) |
| 72 | ILLUMINA | ss3634388449 | Oct 12, 2018 (152) |
| 73 | ILLUMINA | ss3636068272 | Oct 12, 2018 (152) |
| 74 | ILLUMINA | ss3640095797 | Oct 12, 2018 (152) |
| 75 | ILLUMINA | ss3644527810 | Oct 12, 2018 (152) |
| 76 | URBANLAB | ss3649280647 | Oct 12, 2018 (152) |
| 77 | ILLUMINA | ss3651558829 | Oct 12, 2018 (152) |
| 78 | ILLUMINA | ss3651558830 | Oct 12, 2018 (152) |
| 79 | ILLUMINA | ss3651558831 | Oct 12, 2018 (152) |
| 80 | ILLUMINA | ss3653674165 | Oct 12, 2018 (152) |
| 81 | EGCUT_WGS | ss3673403737 | Jul 13, 2019 (153) |
| 82 | EVA_DECODE | ss3689207934 | Jul 13, 2019 (153) |
| 83 | ILLUMINA | ss3725132387 | Jul 13, 2019 (153) |
| 84 | ACPOP | ss3737027545 | Jul 13, 2019 (153) |
| 85 | ILLUMINA | ss3744363872 | Jul 13, 2019 (153) |
| 86 | ILLUMINA | ss3744689322 | Jul 13, 2019 (153) |
| 87 | EVA | ss3747700502 | Jul 13, 2019 (153) |
| 88 | PAGE_CC | ss3771539564 | Jul 13, 2019 (153) |
| 89 | ILLUMINA | ss3772190035 | Jul 13, 2019 (153) |
| 90 | PACBIO | ss3786570455 | Jul 13, 2019 (153) |
| 91 | PACBIO | ss3791764310 | Jul 13, 2019 (153) |
| 92 | PACBIO | ss3796646093 | Jul 13, 2019 (153) |
| 93 | KHV_HUMAN_GENOMES | ss3813063440 | Jul 13, 2019 (153) |
| 94 | EVA | ss3831947441 | Apr 26, 2020 (154) |
| 95 | EVA | ss3839504543 | Apr 26, 2020 (154) |
| 96 | EVA | ss3844970530 | Apr 26, 2020 (154) |
| 97 | SGDP_PRJ | ss3873454950 | Apr 26, 2020 (154) |
| 98 | KRGDB | ss3921390593 | Apr 26, 2020 (154) |
| 99 | EVA | ss3984629147 | Apr 26, 2021 (155) |
| 100 | EVA | ss3985455387 | Apr 26, 2021 (155) |
| 101 | TOPMED | ss4841262277 | Apr 26, 2021 (155) |
| 102 | TOMMO_GENOMICS | ss5196099758 | Apr 26, 2021 (155) |
| 103 | 1000G_HIGH_COVERAGE | ss5282791714 | Oct 16, 2022 (156) |
| 104 | EVA | ss5315448099 | Oct 16, 2022 (156) |
| 105 | EVA | ss5391365082 | Oct 16, 2022 (156) |
| 106 | HUGCELL_USP | ss5478582517 | Oct 16, 2022 (156) |
| 107 | 1000G_HIGH_COVERAGE | ss5576119838 | Oct 16, 2022 (156) |
| 108 | SANFORD_IMAGENETICS | ss5624238885 | Oct 16, 2022 (156) |
| 109 | SANFORD_IMAGENETICS | ss5648603297 | Oct 16, 2022 (156) |
| 110 | TOMMO_GENOMICS | ss5740899960 | Oct 16, 2022 (156) |
| 111 | YY_MCH | ss5811163296 | Oct 16, 2022 (156) |
| 112 | EVA | ss5823924194 | Oct 16, 2022 (156) |
| 113 | EVA | ss5847367011 | Oct 16, 2022 (156) |
| 114 | EVA | ss5849421015 | Oct 16, 2022 (156) |
| 115 | EVA | ss5877592367 | Oct 16, 2022 (156) |
| 116 | EVA | ss5939884574 | Oct 16, 2022 (156) |
| 117 | EVA | ss5979315571 | Oct 16, 2022 (156) |
| 118 | 1000Genomes | NC_000010.10 - 6393260 | Oct 12, 2018 (152) |
| 119 | 1000Genomes_30x | NC_000010.11 - 6351298 | Oct 16, 2022 (156) |
| 120 | The Avon Longitudinal Study of Parents and Children | NC_000010.10 - 6393260 | Oct 12, 2018 (152) |
| 121 | Genome-wide autozygosity in Daghestan | NC_000010.9 - 6433266 | Apr 26, 2020 (154) |
| 122 | Genetic variation in the Estonian population | NC_000010.10 - 6393260 | Oct 12, 2018 (152) |
| 123 | The Danish reference pan genome | NC_000010.10 - 6393260 | Apr 26, 2020 (154) |
| 124 | gnomAD - Genomes | NC_000010.11 - 6351298 | Apr 26, 2021 (155) |
| 125 | Genome of the Netherlands Release 5 | NC_000010.10 - 6393260 | Apr 26, 2020 (154) |
| 126 | HapMap | NC_000010.11 - 6351298 | Apr 26, 2020 (154) |
| 127 | KOREAN population from KRGDB | NC_000010.10 - 6393260 | Apr 26, 2020 (154) |
| 128 | Northern Sweden | NC_000010.10 - 6393260 | Jul 13, 2019 (153) |
| 129 | The PAGE Study | NC_000010.11 - 6351298 | Jul 13, 2019 (153) |
| 130 | Ancient Sardinia genome-wide 1240k capture data generation and analysis | NC_000010.10 - 6393260 | Apr 26, 2021 (155) |
| 131 | CNV burdens in cranial meningiomas | NC_000010.10 - 6393260 | Apr 26, 2021 (155) |
| 132 | Qatari | NC_000010.10 - 6393260 | Apr 26, 2020 (154) |
| 133 | SGDP_PRJ | NC_000010.10 - 6393260 | Apr 26, 2020 (154) |
| 134 | Siberian | NC_000010.10 - 6393260 | Apr 26, 2020 (154) |
| 135 | 8.3KJPN | NC_000010.10 - 6393260 | Apr 26, 2021 (155) |
| 136 | 14KJPN | NC_000010.11 - 6351298 | Oct 16, 2022 (156) |
| 137 | TopMed | NC_000010.11 - 6351298 | Apr 26, 2021 (155) |
| 138 | UK 10K study - Twins | NC_000010.10 - 6393260 | Oct 12, 2018 (152) |
| 139 | A Vietnamese Genetic Variation Database | NC_000010.10 - 6393260 | Jul 13, 2019 (153) |
| 140 | ALFA | NC_000010.11 - 6351298 | 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) |
|---|---|
| rs56902976 | May 23, 2008 (130) |
| rs61718694 | Feb 26, 2009 (130) |
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| ss83029840 | NC_000010.8:6433265:C:G | NC_000010.11:6351297:C:G | (self) |
| 43154, ss66143448, ss76164047, ss88081191, ss109197965, ss115306077, ss119004321, ss167745047, ss168980034, ss170371375, ss172683716, ss201098339, ss207148165, ss254026648, ss280465025, ss286122637, ss290900309, ss1397571545, ss1596806001, ss1713154184, ss2094858373 | NC_000010.9:6433265:C:G | NC_000010.11:6351297:C:G | (self) |
| 48474173, 26933758, 19141985, 2014821, 12012882, 28567987, 10312410, 681314, 178603, 12520989, 25471930, 6721023, 54069065, 26933758, 5978910, ss224544946, ss235038367, ss241774092, ss482040879, ss491432295, ss561745932, ss656252113, ss780685310, ss783358794, ss987158017, ss1076732235, ss1336132761, ss1426209066, ss1574889893, ss1623913201, ss1666907234, ss1751975400, ss1806238659, ss1917844452, ss1930479059, ss1946275138, ss1959236981, ss1967049716, ss2025962609, ss2095005310, ss2095005311, ss2154204669, ss2627450237, ss2632669937, ss2632669938, ss2698428650, ss2885112180, ss2984904500, ss3005876712, ss3021210890, ss3348942269, ss3626378361, ss3634388449, ss3636068272, ss3640095797, ss3644527810, ss3651558829, ss3651558830, ss3651558831, ss3653674165, ss3673403737, ss3737027545, ss3744363872, ss3744689322, ss3747700502, ss3772190035, ss3786570455, ss3791764310, ss3796646093, ss3831947441, ss3839504543, ss3873454950, ss3921390593, ss3984629147, ss3985455387, ss5196099758, ss5315448099, ss5391365082, ss5624238885, ss5648603297, ss5823924194, ss5847367011, ss5939884574, ss5979315571 | NC_000010.10:6393259:C:G | NC_000010.11:6351297:C:G | (self) |
| 63645773, 342432973, 330228, 761033, 74737064, 56807932, 11916991292, ss2172363667, ss3026764806, ss3649280647, ss3689207934, ss3725132387, ss3771539564, ss3813063440, ss3844970530, ss4841262277, ss5282791714, ss5478582517, ss5576119838, ss5740899960, ss5811163296, ss5849421015, ss5877592367 | NC_000010.11:6351297:C:G | NC_000010.11:6351297:C:G | (self) |
| ss6550376, ss69068773, ss82110816, ss97532751, ss102850484, ss131662222, ss137959602, ss160706647, ss244301057 | NT_008705.16:6333259:C:G | NC_000010.11:6351297:C:G | (self) |
| ss16015436, ss20639690 | NT_077569.2:756155:C:G | NC_000010.11:6351297:C:G | (self) |
| 11916991292 | NC_000010.11:6351297:C:T | NC_000010.11:6351297:C:T | (self) |
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
29
citations for rs4750316
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 18794853 | Common variants at CD40 and other loci confer risk of rheumatoid arthritis. | Raychaudhuri S et al. | 2008 | Nature genetics |
| 18794857 | Rheumatoid arthritis susceptibility loci at chromosomes 10p15, 12q13 and 22q13. | Barton A et al. | 2008 | Nature genetics |
| 19674979 | Overlap of disease susceptibility loci for rheumatoid arthritis and juvenile idiopathic arthritis. | Hinks A et al. | 2010 | Annals of the rheumatic diseases |
| 19898481 | Genetic variants at CD28, PRDM1 and CD2/CD58 are associated with rheumatoid arthritis risk. | Raychaudhuri S et al. | 2009 | Nature genetics |
| 20075733 | Recent advances in the genetics of rheumatoid arthritis. | Raychaudhuri S et al. | 2010 | Current opinion in rheumatology |
| 20219786 | The role of rheumatoid arthritis genetic susceptibility markers in the prediction of erosive disease in patients with early inflammatory polyarthritis: results from the Norfolk Arthritis Register. | Plant D et al. | 2011 | Rheumatology (Oxford, England) |
| 20233754 | Cumulative association of 22 genetic variants with seropositive rheumatoid arthritis risk. | Karlson EW et al. | 2010 | Annals of the rheumatic diseases |
| 20309874 | Rheumatoid arthritis risk allele PTPRC is also associated with response to anti-tumor necrosis factor alpha therapy. | Cui J et al. | 2010 | Arthritis and rheumatism |
| 20439292 | Genetic variants in the prediction of rheumatoid arthritis. | van der Helm-van Mil AH et al. | 2010 | Annals of the rheumatic diseases |
| 20444755 | Investigation of rheumatoid arthritis susceptibility genes identifies association of AFF3 and CD226 variants with response to anti-tumour necrosis factor treatment. | Tan RJ et al. | 2010 | Annals of the rheumatic diseases |
| 20453842 | Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci. | Stahl EA et al. | 2010 | Nature genetics |
| 20498205 | Investigation of potential non-HLA rheumatoid arthritis susceptibility loci in a European cohort increases the evidence for nine markers. | Plant D et al. | 2010 | Annals of the rheumatic diseases |
| 20510233 | Leveraging human genetics to develop future therapeutic strategies in rheumatoid arthritis. | Plenge RM et al. | 2010 | Rheumatic diseases clinics of North America |
| 20722033 | The susceptibility loci juvenile idiopathic arthritis shares with other autoimmune diseases extend to PTPN2, COG6, and ANGPT1. | Thompson SD et al. | 2010 | Arthritis and rheumatism |
| 20805105 | Synthetic associations in the context of genome-wide association scan signals. | Orozco G et al. | 2010 | Human molecular genetics |
| 20933377 | Recent findings on genetics of systemic autoimmune diseases. | Delgado-Vega A et al. | 2010 | Current opinion in immunology |
| 21120996 | Most common single-nucleotide polymorphisms associated with rheumatoid arthritis in persons of European ancestry confer risk of rheumatoid arthritis in African Americans. | Hughes LB et al. | 2010 | Arthritis and rheumatism |
| 21156761 | A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis. | Padyukov L et al. | 2011 | Annals of the rheumatic diseases |
| 21211616 | Genetic basis of autoantibody positive and negative rheumatoid arthritis risk in a multi-ethnic cohort derived from electronic health records. | Kurreeman F et al. | 2011 | American journal of human genetics |
| 21765104 | Evaluation of 19 autoimmune disease-associated loci with rheumatoid arthritis in a Colombian population: evidence for replication and gene-gene interaction. | Deshmukh HA et al. | 2011 | The Journal of rheumatology |
| 21931699 | Genetic risk score predicting risk of rheumatoid arthritis phenotypes and age of symptom onset. | Chibnik LB et al. | 2011 | PloS one |
| 22328738 | Comprehensive assessment of rheumatoid arthritis susceptibility loci in a large psoriatic arthritis cohort. | Bowes J et al. | 2012 | Annals of the rheumatic diseases |
| 22661644 | Genetic markers of rheumatoid arthritis susceptibility in anti-citrullinated peptide antibody negative patients. | Viatte S et al. | 2012 | Annals of the rheumatic diseases |
| 23121884 | Investigation of Caucasian rheumatoid arthritis susceptibility loci in African patients with the same disease. | Viatte S et al. | 2012 | Arthritis research & therapy |
| 24068971 | Predicting the risk of rheumatoid arthritis and its age of onset through modelling genetic risk variants with smoking. | Scott IC et al. | 2013 | PLoS genetics |
| 24449572 | Novel rheumatoid arthritis susceptibility locus at 22q12 identified in an extended UK genome-wide association study. | Orozco G et al. | 2014 | Arthritis & rheumatology (Hoboken, N.J.) |
| 26784953 | Genetic Variation in the REL Gene Increases Risk of Behcet's Disease in a Chinese Han Population but That of PRKCQ Does Not. | Chen F et al. | 2016 | PloS one |
| 26843965 | Identification of rheumatoid arthritis biomarkers based on single nucleotide polymorphisms and haplotype blocks: A systematic review and meta-analysis. | Saad MN et al. | 2016 | Journal of advanced research |
| 31908401 | PRKCQ rs4750316 is associated with Vogt-Koyanagi-Harada syndrome in a Han Chinese population. | Xu L et al. | 2019 | Molecular vision |
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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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.