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.
rs11172113
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr12:57133500 (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>C / T>G
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
C=0.397038 (136381/343496, ALFA)C=0.423359 (112059/264690, TOPMED)C=0.418830 (58565/139830, GnomAD) (+ 21 more)
- Clinical Significance
- Not Reported in ClinVar
- Gene : Consequence
- LRP1 : Intron Variant
- Publications
- 27 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 | 343712 | T=0.602955 | C=0.397045, G=0.000000 |
| European | Sub | 298998 | T=0.601904 | C=0.398096, G=0.000000 |
| African | Sub | 8108 | T=0.5692 | C=0.4308, G=0.0000 |
| African Others | Sub | 302 | T=0.593 | C=0.407, G=0.000 |
| African American | Sub | 7806 | T=0.5683 | C=0.4317, G=0.0000 |
| Asian | Sub | 6920 | T=0.7551 | C=0.2449, G=0.0000 |
| East Asian | Sub | 4982 | T=0.7698 | C=0.2302, G=0.0000 |
| Other Asian | Sub | 1938 | T=0.7172 | C=0.2828, G=0.0000 |
| Latin American 1 | Sub | 1130 | T=0.5947 | C=0.4053, G=0.0000 |
| Latin American 2 | Sub | 7210 | T=0.4872 | C=0.5128, G=0.0000 |
| South Asian | Sub | 5224 | T=0.6016 | C=0.3984, G=0.0000 |
| Other | Sub | 16122 | T=0.62691 | C=0.37309, G=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 |
|---|---|---|---|---|---|
| Allele Frequency Aggregator | Total | Global | 343496 | T=0.602962 | C=0.397038, G=0.000000 |
| Allele Frequency Aggregator | European | Sub | 298818 | T=0.601912 | C=0.398088, G=0.000000 |
| Allele Frequency Aggregator | Other | Sub | 16100 | T=0.62689 | C=0.37311, G=0.00000 |
| Allele Frequency Aggregator | African | Sub | 8094 | T=0.5692 | C=0.4308, G=0.0000 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 7210 | T=0.4872 | C=0.5128, G=0.0000 |
| Allele Frequency Aggregator | Asian | Sub | 6920 | T=0.7551 | C=0.2449, G=0.0000 |
| Allele Frequency Aggregator | South Asian | Sub | 5224 | T=0.6016 | C=0.3984, G=0.0000 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 1130 | T=0.5947 | C=0.4053, G=0.0000 |
| TopMed | Global | Study-wide | 264690 | T=0.576641 | C=0.423359 |
| gnomAD - Genomes | Global | Study-wide | 139830 | T=0.581170 | C=0.418830 |
| gnomAD - Genomes | European | Sub | 75766 | T=0.59884 | C=0.40116 |
| gnomAD - Genomes | African | Sub | 41846 | T=0.56419 | C=0.43581 |
| gnomAD - Genomes | American | Sub | 13624 | T=0.48782 | C=0.51218 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3320 | T=0.6139 | C=0.3861 |
| gnomAD - Genomes | East Asian | Sub | 3126 | T=0.7444 | C=0.2556 |
| gnomAD - Genomes | Other | Sub | 2148 | T=0.5926 | C=0.4074 |
| The PAGE Study | Global | Study-wide | 78702 | T=0.57814 | C=0.42186 |
| The PAGE Study | AfricanAmerican | Sub | 32516 | T=0.55699 | C=0.44301 |
| The PAGE Study | Mexican | Sub | 10810 | T=0.51045 | C=0.48955 |
| The PAGE Study | Asian | Sub | 8318 | T=0.8209 | C=0.1791 |
| The PAGE Study | PuertoRican | Sub | 7918 | T=0.5044 | C=0.4956 |
| The PAGE Study | NativeHawaiian | Sub | 4534 | T=0.6925 | C=0.3075 |
| The PAGE Study | Cuban | Sub | 4230 | T=0.6123 | C=0.3877 |
| The PAGE Study | Dominican | Sub | 3828 | T=0.5734 | C=0.4266 |
| The PAGE Study | CentralAmerican | Sub | 2450 | T=0.4457 | C=0.5543 |
| The PAGE Study | SouthAmerican | Sub | 1982 | T=0.4218 | C=0.5782 |
| The PAGE Study | NativeAmerican | Sub | 1260 | T=0.5548 | C=0.4452 |
| The PAGE Study | SouthAsian | Sub | 856 | T=0.582 | C=0.418 |
| 14KJPN | JAPANESE | Study-wide | 28250 | T=0.80719 | C=0.19281 |
| 8.3KJPN | JAPANESE | Study-wide | 16760 | T=0.80644 | C=0.19356 |
| 1000Genomes_30x | Global | Study-wide | 6404 | T=0.6021 | C=0.3979 |
| 1000Genomes_30x | African | Sub | 1786 | T=0.5482 | C=0.4518 |
| 1000Genomes_30x | Europe | Sub | 1266 | T=0.6248 | C=0.3752 |
| 1000Genomes_30x | South Asian | Sub | 1202 | T=0.6339 | C=0.3661 |
| 1000Genomes_30x | East Asian | Sub | 1170 | T=0.7453 | C=0.2547 |
| 1000Genomes_30x | American | Sub | 980 | T=0.461 | C=0.539 |
| 1000Genomes | Global | Study-wide | 5008 | T=0.6106 | C=0.3894 |
| 1000Genomes | African | Sub | 1322 | T=0.5454 | C=0.4546 |
| 1000Genomes | East Asian | Sub | 1008 | T=0.7540 | C=0.2460 |
| 1000Genomes | Europe | Sub | 1006 | T=0.6213 | C=0.3787 |
| 1000Genomes | South Asian | Sub | 978 | T=0.644 | C=0.356 |
| 1000Genomes | American | Sub | 694 | T=0.464 | C=0.536 |
| Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | T=0.5897 | C=0.4103 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | T=0.5874 | C=0.4126 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | T=0.5858 | C=0.4142 |
| KOREAN population from KRGDB | KOREAN | Study-wide | 2926 | T=0.7843 | C=0.2157 |
| HGDP-CEPH-db Supplement 1 | Global | Study-wide | 2080 | T=0.5971 | C=0.4029 |
| HGDP-CEPH-db Supplement 1 | Est_Asia | Sub | 468 | T=0.707 | C=0.293 |
| HGDP-CEPH-db Supplement 1 | Central_South_Asia | Sub | 414 | T=0.623 | C=0.377 |
| HGDP-CEPH-db Supplement 1 | Middle_Est | Sub | 350 | T=0.700 | C=0.300 |
| HGDP-CEPH-db Supplement 1 | Europe | Sub | 320 | T=0.597 | C=0.403 |
| HGDP-CEPH-db Supplement 1 | Africa | Sub | 242 | T=0.591 | C=0.409 |
| HGDP-CEPH-db Supplement 1 | America | Sub | 216 | T=0.199 | C=0.801 |
| HGDP-CEPH-db Supplement 1 | Oceania | Sub | 70 | T=0.44 | C=0.56 |
| HapMap | Global | Study-wide | 1892 | T=0.6316 | C=0.3684 |
| HapMap | American | Sub | 770 | T=0.632 | C=0.368 |
| HapMap | African | Sub | 692 | T=0.575 | C=0.425 |
| HapMap | Asian | Sub | 254 | T=0.783 | C=0.217 |
| HapMap | Europe | Sub | 176 | T=0.631 | C=0.369 |
| Korean Genome Project | KOREAN | Study-wide | 1832 | T=0.7898 | C=0.2102 |
| Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | T=0.577 | C=0.423 |
| CNV burdens in cranial meningiomas | Global | Study-wide | 792 | T=0.749 | C=0.251 |
| CNV burdens in cranial meningiomas | CRM | Sub | 792 | T=0.749 | C=0.251 |
| Northern Sweden | ACPOP | Study-wide | 600 | T=0.637 | C=0.363 |
| SGDP_PRJ | Global | Study-wide | 380 | T=0.363 | C=0.637 |
| Qatari | Global | Study-wide | 216 | T=0.699 | C=0.301 |
| A Vietnamese Genetic Variation Database | Global | Study-wide | 214 | T=0.813 | C=0.187 |
| The Danish reference pan genome | Danish | Study-wide | 40 | T=0.57 | C=0.42 |
| Ancient Sardinia genome-wide 1240k capture data generation and analysis | Global | Study-wide | 38 | T=0.68 | C=0.32 |
| Siberian | Global | Study-wide | 32 | T=0.38 | C=0.62 |
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 12 | NC_000012.12:g.57133500T>C |
| GRCh38.p14 chr 12 | NC_000012.12:g.57133500T>G |
| GRCh37.p13 chr 12 | NC_000012.11:g.57527283T>C |
| GRCh37.p13 chr 12 | NC_000012.11:g.57527283T>G |
| STAT6 RefSeqGene (LRG_1369) | NG_021272.2:g.3640A>G |
| STAT6 RefSeqGene (LRG_1369) | NG_021272.2:g.3640A>C |
| LRP1 RefSeqGene | NG_016444.1:g.10002T>C |
| LRP1 RefSeqGene | NG_016444.1:g.10002T>G |
Gene: LRP1, LDL receptor related protein 1
(plus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| LRP1 transcript | NM_002332.3:c.67+4469T>C | N/A | Intron 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 | T= | C | G |
|---|---|---|---|
| GRCh38.p14 chr 12 | NC_000012.12:g.57133500= | NC_000012.12:g.57133500T>C | NC_000012.12:g.57133500T>G |
| GRCh37.p13 chr 12 | NC_000012.11:g.57527283= | NC_000012.11:g.57527283T>C | NC_000012.11:g.57527283T>G |
| STAT6 RefSeqGene (LRG_1369) | NG_021272.2:g.3640= | NG_021272.2:g.3640A>G | NG_021272.2:g.3640A>C |
| LRP1 RefSeqGene | NG_016444.1:g.10002= | NG_016444.1:g.10002T>C | NG_016444.1:g.10002T>G |
| LRP1 transcript | NM_002332.2:c.67+4469= | NM_002332.2:c.67+4469T>C | NM_002332.2:c.67+4469T>G |
| LRP1 transcript | NM_002332.3:c.67+4469= | NM_002332.3:c.67+4469T>C | NM_002332.3:c.67+4469T>G |
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#.
148 SubSNP,
24 Frequency
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | SC_SNP | ss18792213 | Feb 27, 2004 (120) |
| 2 | SC_SNP | ss19002853 | Feb 27, 2004 (120) |
| 3 | ABI | ss38947144 | Mar 15, 2006 (126) |
| 4 | ILLUMINA | ss66764959 | Dec 01, 2006 (127) |
| 5 | ILLUMINA | ss66925079 | Dec 01, 2006 (127) |
| 6 | ILLUMINA | ss67075748 | Dec 01, 2006 (127) |
| 7 | ILLUMINA | ss70391433 | May 18, 2007 (127) |
| 8 | ILLUMINA | ss70522973 | May 23, 2008 (130) |
| 9 | ILLUMINA | ss71052326 | May 18, 2007 (127) |
| 10 | ILLUMINA | ss75769611 | Dec 06, 2007 (129) |
| 11 | HGSV | ss77138681 | Dec 06, 2007 (129) |
| 12 | KRIBB_YJKIM | ss85082117 | Dec 14, 2007 (130) |
| 13 | HUMANGENOME_JCVI | ss97312027 | Feb 04, 2009 (130) |
| 14 | 1000GENOMES | ss111987648 | Jan 25, 2009 (130) |
| 15 | ILLUMINA | ss121456909 | Dec 01, 2009 (131) |
| 16 | ENSEMBL | ss137429511 | Dec 01, 2009 (131) |
| 17 | ILLUMINA | ss152955057 | Dec 01, 2009 (131) |
| 18 | GMI | ss157513030 | Dec 01, 2009 (131) |
| 19 | ILLUMINA | ss159168744 | Dec 01, 2009 (131) |
| 20 | ILLUMINA | ss159966305 | Dec 01, 2009 (131) |
| 21 | COMPLETE_GENOMICS | ss168351637 | Jul 04, 2010 (132) |
| 22 | ILLUMINA | ss169817033 | Jul 04, 2010 (132) |
| 23 | COMPLETE_GENOMICS | ss169947821 | Jul 04, 2010 (132) |
| 24 | ILLUMINA | ss171123827 | Jul 04, 2010 (132) |
| 25 | COMPLETE_GENOMICS | ss175138884 | Jul 04, 2010 (132) |
| 26 | BUSHMAN | ss198233241 | Jul 04, 2010 (132) |
| 27 | BCM-HGSC-SUB | ss208321558 | Jul 04, 2010 (132) |
| 28 | 1000GENOMES | ss225770824 | Jul 14, 2010 (132) |
| 29 | 1000GENOMES | ss235947737 | Jul 15, 2010 (132) |
| 30 | 1000GENOMES | ss242504773 | Jul 15, 2010 (132) |
| 31 | ILLUMINA | ss244271822 | Jul 04, 2010 (132) |
| 32 | BL | ss255145060 | May 09, 2011 (134) |
| 33 | GMI | ss281410513 | May 04, 2012 (137) |
| 34 | PJP | ss291257998 | May 09, 2011 (134) |
| 35 | ILLUMINA | ss410892417 | Sep 17, 2011 (135) |
| 36 | ILLUMINA | ss479487129 | May 04, 2012 (137) |
| 37 | ILLUMINA | ss479491119 | May 04, 2012 (137) |
| 38 | ILLUMINA | ss479930994 | Sep 08, 2015 (146) |
| 39 | ILLUMINA | ss484543084 | May 04, 2012 (137) |
| 40 | EXOME_CHIP | ss491469933 | May 04, 2012 (137) |
| 41 | ILLUMINA | ss536682835 | Sep 08, 2015 (146) |
| 42 | TISHKOFF | ss563187491 | Apr 25, 2013 (138) |
| 43 | SSMP | ss658746833 | Apr 25, 2013 (138) |
| 44 | ILLUMINA | ss778379662 | Aug 21, 2014 (142) |
| 45 | ILLUMINA | ss780680979 | Aug 21, 2014 (142) |
| 46 | ILLUMINA | ss782718178 | Aug 21, 2014 (142) |
| 47 | ILLUMINA | ss783354276 | Aug 21, 2014 (142) |
| 48 | ILLUMINA | ss783685800 | Aug 21, 2014 (142) |
| 49 | ILLUMINA | ss825360828 | Apr 01, 2015 (144) |
| 50 | ILLUMINA | ss831969681 | Apr 01, 2015 (144) |
| 51 | ILLUMINA | ss832681293 | Aug 21, 2014 (142) |
| 52 | ILLUMINA | ss833271982 | Aug 21, 2014 (142) |
| 53 | ILLUMINA | ss833834634 | Aug 21, 2014 (142) |
| 54 | EVA-GONL | ss989570841 | Aug 21, 2014 (142) |
| 55 | JMKIDD_LAB | ss1078487031 | Aug 21, 2014 (142) |
| 56 | 1000GENOMES | ss1345168614 | Aug 21, 2014 (142) |
| 57 | DDI | ss1426944054 | Apr 01, 2015 (144) |
| 58 | EVA_GENOME_DK | ss1576304638 | Apr 01, 2015 (144) |
| 59 | EVA_DECODE | ss1599244368 | Apr 01, 2015 (144) |
| 60 | EVA_UK10K_ALSPAC | ss1628666842 | Apr 01, 2015 (144) |
| 61 | EVA_UK10K_TWINSUK | ss1671660875 | Apr 01, 2015 (144) |
| 62 | EVA_SVP | ss1713330503 | Apr 01, 2015 (144) |
| 63 | ILLUMINA | ss1752074535 | Sep 08, 2015 (146) |
| 64 | ILLUMINA | ss1752074536 | Sep 08, 2015 (146) |
| 65 | HAMMER_LAB | ss1807261754 | Sep 08, 2015 (146) |
| 66 | ILLUMINA | ss1917875441 | Feb 12, 2016 (147) |
| 67 | WEILL_CORNELL_DGM | ss1932936351 | Feb 12, 2016 (147) |
| 68 | ILLUMINA | ss1946341054 | Feb 12, 2016 (147) |
| 69 | ILLUMINA | ss1959439488 | Feb 12, 2016 (147) |
| 70 | GENOMED | ss1967597414 | Jul 19, 2016 (147) |
| 71 | JJLAB | ss2027217881 | Sep 14, 2016 (149) |
| 72 | USC_VALOUEV | ss2155559191 | Dec 20, 2016 (150) |
| 73 | HUMAN_LONGEVITY | ss2190099101 | Dec 20, 2016 (150) |
| 74 | SYSTEMSBIOZJU | ss2628090338 | Nov 08, 2017 (151) |
| 75 | ILLUMINA | ss2632964042 | Nov 08, 2017 (151) |
| 76 | ILLUMINA | ss2632964043 | Nov 08, 2017 (151) |
| 77 | ILLUMINA | ss2632964044 | Nov 08, 2017 (151) |
| 78 | GRF | ss2699904070 | Nov 08, 2017 (151) |
| 79 | ILLUMINA | ss2710763121 | Nov 08, 2017 (151) |
| 80 | GNOMAD | ss2910951756 | Nov 08, 2017 (151) |
| 81 | AFFY | ss2984981173 | Nov 08, 2017 (151) |
| 82 | AFFY | ss2985617994 | Nov 08, 2017 (151) |
| 83 | SWEGEN | ss3009753478 | Nov 08, 2017 (151) |
| 84 | ILLUMINA | ss3021435973 | Nov 08, 2017 (151) |
| 85 | BIOINF_KMB_FNS_UNIBA | ss3027417729 | Nov 08, 2017 (151) |
| 86 | CSHL | ss3350081403 | Nov 08, 2017 (151) |
| 87 | ILLUMINA | ss3626887615 | Oct 12, 2018 (152) |
| 88 | ILLUMINA | ss3626887616 | Oct 12, 2018 (152) |
| 89 | ILLUMINA | ss3630972955 | Oct 12, 2018 (152) |
| 90 | ILLUMINA | ss3633021769 | Oct 12, 2018 (152) |
| 91 | ILLUMINA | ss3633722817 | Oct 12, 2018 (152) |
| 92 | ILLUMINA | ss3634507561 | Oct 12, 2018 (152) |
| 93 | ILLUMINA | ss3634507562 | Oct 12, 2018 (152) |
| 94 | ILLUMINA | ss3635413548 | Oct 12, 2018 (152) |
| 95 | ILLUMINA | ss3636192308 | Oct 12, 2018 (152) |
| 96 | ILLUMINA | ss3637164540 | Oct 12, 2018 (152) |
| 97 | ILLUMINA | ss3637965874 | Oct 12, 2018 (152) |
| 98 | ILLUMINA | ss3638996239 | Oct 12, 2018 (152) |
| 99 | ILLUMINA | ss3639500353 | Oct 12, 2018 (152) |
| 100 | ILLUMINA | ss3640214894 | Oct 12, 2018 (152) |
| 101 | ILLUMINA | ss3640214895 | Oct 12, 2018 (152) |
| 102 | ILLUMINA | ss3642959256 | Oct 12, 2018 (152) |
| 103 | ILLUMINA | ss3644594030 | Oct 12, 2018 (152) |
| 104 | URBANLAB | ss3649845495 | Oct 12, 2018 (152) |
| 105 | ILLUMINA | ss3651813850 | Oct 12, 2018 (152) |
| 106 | ILLUMINA | ss3653751123 | Oct 12, 2018 (152) |
| 107 | EGCUT_WGS | ss3677021363 | Jul 13, 2019 (153) |
| 108 | EVA_DECODE | ss3693745513 | Jul 13, 2019 (153) |
| 109 | ILLUMINA | ss3725329715 | Jul 13, 2019 (153) |
| 110 | ACPOP | ss3739054889 | Jul 13, 2019 (153) |
| 111 | ILLUMINA | ss3744397466 | Jul 13, 2019 (153) |
| 112 | ILLUMINA | ss3744808232 | Jul 13, 2019 (153) |
| 113 | ILLUMINA | ss3744808233 | Jul 13, 2019 (153) |
| 114 | EVA | ss3750524936 | Jul 13, 2019 (153) |
| 115 | PAGE_CC | ss3771695037 | Jul 13, 2019 (153) |
| 116 | ILLUMINA | ss3772307672 | Jul 13, 2019 (153) |
| 117 | ILLUMINA | ss3772307673 | Jul 13, 2019 (153) |
| 118 | KHV_HUMAN_GENOMES | ss3815855307 | Jul 13, 2019 (153) |
| 119 | EVA | ss3833141683 | Apr 27, 2020 (154) |
| 120 | EVA | ss3840140351 | Apr 27, 2020 (154) |
| 121 | EVA | ss3845626993 | Apr 27, 2020 (154) |
| 122 | HGDP | ss3847451846 | Apr 27, 2020 (154) |
| 123 | SGDP_PRJ | ss3878353585 | Apr 27, 2020 (154) |
| 124 | KRGDB | ss3927001930 | Apr 27, 2020 (154) |
| 125 | KOGIC | ss3972020377 | Apr 27, 2020 (154) |
| 126 | EVA | ss3984667608 | Apr 26, 2021 (155) |
| 127 | EVA | ss3985593084 | Apr 26, 2021 (155) |
| 128 | EVA | ss4017591104 | Apr 26, 2021 (155) |
| 129 | TOPMED | ss4919643200 | Apr 26, 2021 (155) |
| 130 | TOMMO_GENOMICS | ss5206505042 | Apr 26, 2021 (155) |
| 131 | EVA | ss5237512207 | Apr 26, 2021 (155) |
| 132 | 1000G_HIGH_COVERAGE | ss5290946693 | Oct 16, 2022 (156) |
| 133 | EVA | ss5315623446 | Oct 16, 2022 (156) |
| 134 | EVA | ss5405879620 | Oct 16, 2022 (156) |
| 135 | HUGCELL_USP | ss5485681679 | Oct 16, 2022 (156) |
| 136 | 1000G_HIGH_COVERAGE | ss5588497741 | Oct 16, 2022 (156) |
| 137 | SANFORD_IMAGENETICS | ss5624302665 | Oct 16, 2022 (156) |
| 138 | SANFORD_IMAGENETICS | ss5653230002 | Oct 16, 2022 (156) |
| 139 | TOMMO_GENOMICS | ss5756354195 | Oct 16, 2022 (156) |
| 140 | EVA | ss5799873329 | Oct 16, 2022 (156) |
| 141 | YY_MCH | ss5813331199 | Oct 16, 2022 (156) |
| 142 | EVA | ss5838017381 | Oct 16, 2022 (156) |
| 143 | EVA | ss5847409684 | Oct 16, 2022 (156) |
| 144 | EVA | ss5847672227 | Oct 16, 2022 (156) |
| 145 | EVA | ss5850397311 | Oct 16, 2022 (156) |
| 146 | EVA | ss5904544340 | Oct 16, 2022 (156) |
| 147 | EVA | ss5944592353 | Oct 16, 2022 (156) |
| 148 | EVA | ss5979392768 | Oct 16, 2022 (156) |
| 149 | 1000Genomes | NC_000012.11 - 57527283 | Oct 12, 2018 (152) |
| 150 | 1000Genomes_30x | NC_000012.12 - 57133500 | Oct 16, 2022 (156) |
| 151 | The Avon Longitudinal Study of Parents and Children | NC_000012.11 - 57527283 | Oct 12, 2018 (152) |
| 152 | Genetic variation in the Estonian population | NC_000012.11 - 57527283 | Oct 12, 2018 (152) |
| 153 | The Danish reference pan genome | NC_000012.11 - 57527283 | Apr 27, 2020 (154) |
| 154 | gnomAD - Genomes | NC_000012.12 - 57133500 | Apr 26, 2021 (155) |
| 155 | Genome of the Netherlands Release 5 | NC_000012.11 - 57527283 | Apr 27, 2020 (154) |
| 156 | HGDP-CEPH-db Supplement 1 | NC_000012.10 - 55813550 | Apr 27, 2020 (154) |
| 157 | HapMap | NC_000012.12 - 57133500 | Apr 27, 2020 (154) |
| 158 | KOREAN population from KRGDB | NC_000012.11 - 57527283 | Apr 27, 2020 (154) |
| 159 | Korean Genome Project | NC_000012.12 - 57133500 | Apr 27, 2020 (154) |
| 160 | Northern Sweden | NC_000012.11 - 57527283 | Jul 13, 2019 (153) |
| 161 | The PAGE Study | NC_000012.12 - 57133500 | Jul 13, 2019 (153) |
| 162 | Ancient Sardinia genome-wide 1240k capture data generation and analysis | NC_000012.11 - 57527283 | Apr 26, 2021 (155) |
| 163 | CNV burdens in cranial meningiomas | NC_000012.11 - 57527283 | Apr 26, 2021 (155) |
| 164 | Qatari | NC_000012.11 - 57527283 | Apr 27, 2020 (154) |
| 165 | SGDP_PRJ | NC_000012.11 - 57527283 | Apr 27, 2020 (154) |
| 166 | Siberian | NC_000012.11 - 57527283 | Apr 27, 2020 (154) |
| 167 | 8.3KJPN | NC_000012.11 - 57527283 | Apr 26, 2021 (155) |
| 168 | 14KJPN | NC_000012.12 - 57133500 | Oct 16, 2022 (156) |
| 169 | TopMed | NC_000012.12 - 57133500 | Apr 26, 2021 (155) |
| 170 | UK 10K study - Twins | NC_000012.11 - 57527283 | Oct 12, 2018 (152) |
| 171 | A Vietnamese Genetic Variation Database | NC_000012.11 - 57527283 | Jul 13, 2019 (153) |
| 172 | ALFA | NC_000012.12 - 57133500 | 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) |
|---|---|
| rs57203827 | May 23, 2008 (130) |
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| ss77138681, ss3638996239, ss3639500353 | NC_000012.9:55813549:T:C | NC_000012.12:57133499:T:C | (self) |
| 129738, ss111987648, ss159966305, ss168351637, ss169947821, ss175138884, ss198233241, ss208321558, ss244271822, ss255145060, ss281410513, ss291257998, ss410892417, ss479487129, ss825360828, ss1599244368, ss1713330503, ss3642959256, ss3847451846 | NC_000012.10:55813549:T:C | NC_000012.12:57133499:T:C | (self) |
| 57922912, 32159238, 22759611, 2977488, 14349048, 34179324, 12339754, 819011, 217101, 14978281, 30370565, 8075545, 64474349, 32159238, 7138177, ss225770824, ss235947737, ss242504773, ss479491119, ss479930994, ss484543084, ss491469933, ss536682835, ss563187491, ss658746833, ss778379662, ss780680979, ss782718178, ss783354276, ss783685800, ss831969681, ss832681293, ss833271982, ss833834634, ss989570841, ss1078487031, ss1345168614, ss1426944054, ss1576304638, ss1628666842, ss1671660875, ss1752074535, ss1752074536, ss1807261754, ss1917875441, ss1932936351, ss1946341054, ss1959439488, ss1967597414, ss2027217881, ss2155559191, ss2628090338, ss2632964042, ss2632964043, ss2632964044, ss2699904070, ss2710763121, ss2910951756, ss2984981173, ss2985617994, ss3009753478, ss3021435973, ss3350081403, ss3626887615, ss3626887616, ss3630972955, ss3633021769, ss3633722817, ss3634507561, ss3634507562, ss3635413548, ss3636192308, ss3637164540, ss3637965874, ss3640214894, ss3640214895, ss3644594030, ss3651813850, ss3653751123, ss3677021363, ss3739054889, ss3744397466, ss3744808232, ss3744808233, ss3750524936, ss3772307672, ss3772307673, ss3833141683, ss3840140351, ss3878353585, ss3927001930, ss3984667608, ss3985593084, ss4017591104, ss5206505042, ss5237512207, ss5315623446, ss5405879620, ss5624302665, ss5653230002, ss5799873329, ss5838017381, ss5847409684, ss5847672227, ss5944592353, ss5979392768 | NC_000012.11:57527282:T:C | NC_000012.12:57133499:T:C | (self) |
| 76023676, 408480780, 823439, 28398378, 916506, 90191299, 135188857, 10258743709, ss2190099101, ss3027417729, ss3649845495, ss3693745513, ss3725329715, ss3771695037, ss3815855307, ss3845626993, ss3972020377, ss4919643200, ss5290946693, ss5485681679, ss5588497741, ss5756354195, ss5813331199, ss5850397311, ss5904544340 | NC_000012.12:57133499:T:C | NC_000012.12:57133499:T:C | (self) |
| ss18792213, ss19002853 | NT_029419.10:19670588:T:C | NC_000012.12:57133499:T:C | (self) |
| ss38947144, ss66764959, ss66925079, ss67075748, ss70391433, ss70522973, ss71052326, ss75769611, ss85082117, ss97312027, ss121456909, ss137429511, ss152955057, ss157513030, ss159168744, ss169817033, ss171123827 | NT_029419.12:19670588:T:C | NC_000012.12:57133499:T:C | (self) |
| 10258743709 | NC_000012.12:57133499:T:G | NC_000012.12:57133499:T:G | (self) |
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
27
citations for rs11172113
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 20357209 | Molecular genetic studies of gene identification for osteoporosis: the 2009 update. | Xu XH et al. | 2010 | Endocrine reviews |
| 21537384 | LRP-1 variation is not associated with risk of Alzheimer's disease. | Chalmers KA et al. | 2010 | International journal of molecular epidemiology and genetics |
| 21666692 | Genome-wide association study reveals three susceptibility loci for common migraine in the general population. | Chasman DI et al. | 2011 | Nature genetics |
| 21946350 | Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function. | Soler Artigas M et al. | 2011 | Nature genetics |
| 22072275 | Genetics of migraine in the age of genome-wide association studies. | Schürks M et al. | 2012 | The journal of headache and pain |
| 22379397 | Genetics of recurrent vertigo and vestibular disorders. | Gazquez I et al. | 2011 | Current genomics |
| 22424883 | Genome-wide association study of lung function decline in adults with and without asthma. | Imboden M et al. | 2012 | The Journal of allergy and clinical immunology |
| 23055711 | Updates on the COPD gene list. | Bossé Y et al. | 2012 | International journal of chronic obstructive pulmonary disease |
| 23294458 | Replication and meta-analysis of common variants identifies a genome-wide significant locus in migraine. | Esserlind AL et al. | 2013 | European journal of neurology |
| 24021092 | PRDM16 rs2651899 variant is a risk factor for Chinese common migraine patients. | An XK et al. | 2013 | Headache |
| 24674449 | A replication study of GWAS findings in migraine identifies association in a Swedish case-control sample. | Ran C et al. | 2014 | BMC medical genetics |
| 24852292 | Selectivity in genetic association with sub-classified migraine in women. | Chasman DI et al. | 2014 | PLoS genetics |
| 25093840 | Common genetic determinants of lung function, subclinical atherosclerosis and risk of coronary artery disease. | Sabater-Lleal M et al. | 2014 | PloS one |
| 25667298 | The association between candidate migraine susceptibility loci and severe migraine phenotype in a clinical sample. | Esserlind AL et al. | 2016 | Cephalalgia |
| 26031789 | Low density lipoprotein receptor related protein 1 and 6 gene variants and ischaemic stroke risk. | Harriott AM et al. | 2015 | European journal of neurology |
| 26747084 | Genetic studies of Polish migraine patients: screening for causative mutations in four migraine-associated genes. | Domitrz I et al. | 2016 | Human genomics |
| 26800698 | Case-control study of GRIA1 and GRIA3 gene variants in migraine. | Fang J et al. | 2015 | The journal of headache and pain |
| 28209224 | Systematic Evaluation of Pleiotropy Identifies 6 Further Loci Associated With Coronary Artery Disease. | Webb TR et al. | 2017 | Journal of the American College of Cardiology |
| 29397368 | A Genome-Wide Association Study Finds Genetic Associations with Broadly-Defined Headache in UK Biobank (N=223,773). | Meng W et al. | 2018 | EBioMedicine |
| 29871630 | A candidate gene identification strategy utilizing mouse to human big-data mining: "3R-tenet" in COPD genetic research. | Vishweswaraiah S et al. | 2018 | Respiratory research |
| 30142673 | Metabolic Determinants of Impaired Pulmonary Function in Patients with Newly Diagnosed Type 2 Diabetes Mellitus. | Röhling M et al. | 2018 | Experimental and clinical endocrinology & diabetes |
| 30904033 | Association between PRDM16, MEF2D, TRPM8, LRP1 gene polymorphisms and migraine susceptibility in the She ethnic population in China. | Fu X et al. | 2019 | Clinical and investigative medicine. Medecine clinique et experimentale |
| 31307206 | Risk factors and psychological impact of syncope in migraine patients. | Kuan AS et al. | 2019 | Cephalalgia |
| 31505242 | Could rs4379368 be a genetic marker for North Indian migraine patients with aura?: Preliminary evidence by a replication study. | Kaur S et al. | 2019 | Neuroscience letters |
| 34588893 | PRDM16, LRP1 and TRPM8 genetic polymorphisms are risk factor for Pakistani migraine patients. | Zafar R et al. | 2021 | Saudi journal of biological sciences |
| 35128049 | Migraine, Stroke, and Cervical Arterial Dissection: Shared Genetics for a Triad of Brain Disorders With Vascular Involvement. | Daghals I et al. | 2022 | Neurology. Genetics |
| 35454329 | Deciphering the Role of the rs2651899, rs10166942, and rs11172113 Polymorphisms in Migraine: A Meta-Analysis. | Siokas V et al. | 2022 | Medicina (Kaunas, Lithuania) |
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.