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.
rs755622
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr22:23894205 (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
- G>C
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
C=0.259300 (68634/264690, TOPMED)C=0.258328 (36217/140198, GnomAD)C=0.30544 (24010/78608, PAGE_STUDY) (+ 15 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
-
MIF-AS1 : Non Coding Transcript VariantMIF : 2KB Upstream Variant
- Publications
- 95 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 | 18890 | G=0.77274 | C=0.22726 |
| European | Sub | 14286 | G=0.81184 | C=0.18816 |
| African | Sub | 2946 | G=0.5988 | C=0.4012 |
| African Others | Sub | 114 | G=0.588 | C=0.412 |
| African American | Sub | 2832 | G=0.5992 | C=0.4008 |
| Asian | Sub | 112 | G=0.795 | C=0.205 |
| East Asian | Sub | 86 | G=0.83 | C=0.17 |
| Other Asian | Sub | 26 | G=0.69 | C=0.31 |
| Latin American 1 | Sub | 146 | G=0.753 | C=0.247 |
| Latin American 2 | Sub | 610 | G=0.736 | C=0.264 |
| South Asian | Sub | 98 | G=0.71 | C=0.29 |
| Other | Sub | 692 | G=0.747 | C=0.253 |
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=0.740700 | C=0.259300 |
| gnomAD - Genomes | Global | Study-wide | 140198 | G=0.741672 | C=0.258328 |
| gnomAD - Genomes | European | Sub | 75922 | G=0.81772 | C=0.18228 |
| gnomAD - Genomes | African | Sub | 42022 | G=0.59174 | C=0.40826 |
| gnomAD - Genomes | American | Sub | 13652 | G=0.73667 | C=0.26333 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3320 | G=0.8488 | C=0.1512 |
| gnomAD - Genomes | East Asian | Sub | 3128 | G=0.8027 | C=0.1973 |
| gnomAD - Genomes | Other | Sub | 2154 | G=0.7642 | C=0.2358 |
| The PAGE Study | Global | Study-wide | 78608 | G=0.69456 | C=0.30544 |
| The PAGE Study | AfricanAmerican | Sub | 32466 | G=0.60229 | C=0.39771 |
| The PAGE Study | Mexican | Sub | 10796 | G=0.71693 | C=0.28307 |
| The PAGE Study | Asian | Sub | 8306 | G=0.7899 | C=0.2101 |
| The PAGE Study | PuertoRican | Sub | 7914 | G=0.7502 | C=0.2498 |
| The PAGE Study | NativeHawaiian | Sub | 4534 | G=0.8593 | C=0.1407 |
| The PAGE Study | Cuban | Sub | 4224 | G=0.7959 | C=0.2041 |
| The PAGE Study | Dominican | Sub | 3826 | G=0.7041 | C=0.2959 |
| The PAGE Study | CentralAmerican | Sub | 2448 | G=0.6949 | C=0.3051 |
| The PAGE Study | SouthAmerican | Sub | 1980 | G=0.7955 | C=0.2045 |
| The PAGE Study | NativeAmerican | Sub | 1258 | G=0.7281 | C=0.2719 |
| The PAGE Study | SouthAsian | Sub | 856 | G=0.773 | C=0.227 |
| 14KJPN | JAPANESE | Study-wide | 28258 | G=0.79507 | C=0.20493 |
| Allele Frequency Aggregator | Total | Global | 18890 | G=0.77274 | C=0.22726 |
| Allele Frequency Aggregator | European | Sub | 14286 | G=0.81184 | C=0.18816 |
| Allele Frequency Aggregator | African | Sub | 2946 | G=0.5988 | C=0.4012 |
| Allele Frequency Aggregator | Other | Sub | 692 | G=0.747 | C=0.253 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 610 | G=0.736 | C=0.264 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 146 | G=0.753 | C=0.247 |
| Allele Frequency Aggregator | Asian | Sub | 112 | G=0.795 | C=0.205 |
| Allele Frequency Aggregator | South Asian | Sub | 98 | G=0.71 | C=0.29 |
| 8.3KJPN | JAPANESE | Study-wide | 16760 | G=0.79302 | C=0.20698 |
| 1000Genomes_30x | Global | Study-wide | 6404 | G=0.7316 | C=0.2684 |
| 1000Genomes_30x | African | Sub | 1786 | G=0.5689 | C=0.4311 |
| 1000Genomes_30x | Europe | Sub | 1266 | G=0.8175 | C=0.1825 |
| 1000Genomes_30x | South Asian | Sub | 1202 | G=0.7804 | C=0.2196 |
| 1000Genomes_30x | East Asian | Sub | 1170 | G=0.8043 | C=0.1957 |
| 1000Genomes_30x | American | Sub | 980 | G=0.770 | C=0.230 |
| 1000Genomes | Global | Study-wide | 5008 | G=0.7332 | C=0.2668 |
| 1000Genomes | African | Sub | 1322 | G=0.5658 | C=0.4342 |
| 1000Genomes | East Asian | Sub | 1008 | G=0.8036 | C=0.1964 |
| 1000Genomes | Europe | Sub | 1006 | G=0.8141 | C=0.1859 |
| 1000Genomes | South Asian | Sub | 978 | G=0.782 | C=0.218 |
| 1000Genomes | American | Sub | 694 | G=0.764 | C=0.236 |
| Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | G=0.7920 | C=0.2080 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | G=0.8212 | C=0.1788 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | G=0.8225 | C=0.1775 |
| KOREAN population from KRGDB | KOREAN | Study-wide | 2928 | G=0.7923 | C=0.2077 |
| Northern Sweden | ACPOP | Study-wide | 600 | G=0.837 | C=0.163 |
| SGDP_PRJ | Global | Study-wide | 256 | G=0.395 | C=0.605 |
| Qatari | Global | Study-wide | 216 | G=0.829 | C=0.171 |
| A Vietnamese Genetic Variation Database | Global | Study-wide | 214 | G=0.855 | C=0.145 |
| The Danish reference pan genome | Danish | Study-wide | 40 | G=0.80 | C=0.20 |
| Siberian | Global | Study-wide | 22 | G=0.45 | C=0.55 |
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 22 | NC_000022.11:g.23894205G>C |
| GRCh37.p13 chr 22 | NC_000022.10:g.24236392G>C |
| MIF RefSeqGene | NG_012099.1:g.4828G>C |
| GRCh38.p14 chr 22 alt locus HSCHR22_1_CTG7 | NT_187633.1:g.130567G>C |
Gene: MIF, macrophage migration inhibitory factor
(plus strand)
:
2KB Upstream Variant
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| MIF transcript | NM_002415.2:c. | N/A | Upstream Transcript Variant |
Gene: MIF-AS1, MIF antisense RNA 1
(minus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| MIF-AS1 transcript | NR_038911.1:n.1697C>G | 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.
Allele: C (allele ID:
29398
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000015433.2 | Rheumatoid arthritis, systemic juvenile, susceptibility to | Risk-Factor |
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 | G= | C |
|---|---|---|
| GRCh38.p14 chr 22 | NC_000022.11:g.23894205= | NC_000022.11:g.23894205G>C |
| GRCh37.p13 chr 22 | NC_000022.10:g.24236392= | NC_000022.10:g.24236392G>C |
| MIF RefSeqGene | NG_012099.1:g.4828= | NG_012099.1:g.4828G>C |
| GRCh38.p14 chr 22 alt locus HSCHR22_1_CTG7 | NT_187633.1:g.130567= | NT_187633.1:g.130567G>C |
| MIF-AS1 transcript | NR_038911.1:n.1697= | NR_038911.1:n.1697C>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#.
95 SubSNP,
18 Frequency,
1 ClinVar
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | TSC-CSHL | ss109873 | Oct 05, 2000 (86) |
| 2 | LEE | ss1546508 | Oct 05, 2000 (92) |
| 3 | CGAP-GAI | ss4322772 | Jan 04, 2002 (102) |
| 4 | LEE | ss4400195 | May 29, 2002 (106) |
| 5 | LEE | ss4431890 | May 29, 2002 (106) |
| 6 | SC_JCM | ss6136641 | Feb 20, 2003 (111) |
| 7 | WI_SSAHASNP | ss6659809 | Feb 20, 2003 (111) |
| 8 | SC_SNP | ss8012929 | Apr 21, 2003 (114) |
| 9 | SNP500CANCER | ss12675533 | Nov 17, 2003 (118) |
| 10 | KYUGEN | ss28458868 | Sep 20, 2004 (123) |
| 11 | ABI | ss44318452 | Mar 13, 2006 (126) |
| 12 | EGP_SNPS | ss49853574 | Mar 13, 2006 (126) |
| 13 | STEJUSTINE-REGGEN | ss51854285 | Mar 16, 2006 (126) |
| 14 | CGM_KYOTO | ss76870434 | Dec 06, 2007 (129) |
| 15 | HGSV | ss83358618 | Dec 15, 2007 (130) |
| 16 | BCMHGSC_JDW | ss91890517 | Mar 24, 2008 (129) |
| 17 | HGSV | ss107791785 | Feb 04, 2009 (130) |
| 18 | 1000GENOMES | ss112573053 | Jan 25, 2009 (130) |
| 19 | 1000GENOMES | ss114075818 | Jan 25, 2009 (130) |
| 20 | ENSEMBL | ss138340294 | Dec 01, 2009 (131) |
| 21 | GMI | ss157072584 | Dec 01, 2009 (131) |
| 22 | COMPLETE_GENOMICS | ss168973856 | Jul 04, 2010 (132) |
| 23 | COMPLETE_GENOMICS | ss171863597 | Jul 04, 2010 (132) |
| 24 | BUSHMAN | ss204060033 | Jul 04, 2010 (132) |
| 25 | 1000GENOMES | ss228633441 | Jul 14, 2010 (132) |
| 26 | 1000GENOMES | ss238033680 | Jul 15, 2010 (132) |
| 27 | 1000GENOMES | ss244161043 | Jul 15, 2010 (132) |
| 28 | BL | ss255858988 | May 09, 2011 (134) |
| 29 | GMI | ss283601224 | May 04, 2012 (137) |
| 30 | ILLUMINA | ss483897104 | May 04, 2012 (137) |
| 31 | ILLUMINA | ss484293608 | May 04, 2012 (137) |
| 32 | ILLUMINA | ss536091739 | Sep 08, 2015 (146) |
| 33 | TISHKOFF | ss566579784 | Apr 25, 2013 (138) |
| 34 | SSMP | ss662508175 | Apr 25, 2013 (138) |
| 35 | ILLUMINA | ss780449419 | Sep 08, 2015 (146) |
| 36 | ILLUMINA | ss782392174 | Sep 08, 2015 (146) |
| 37 | ILLUMINA | ss835939296 | Sep 08, 2015 (146) |
| 38 | EVA-GONL | ss995253750 | Aug 21, 2014 (142) |
| 39 | JMKIDD_LAB | ss1082590741 | Aug 21, 2014 (142) |
| 40 | 1000GENOMES | ss1366804849 | Aug 21, 2014 (142) |
| 41 | DDI | ss1429230731 | Apr 01, 2015 (144) |
| 42 | EVA_GENOME_DK | ss1579716120 | Apr 01, 2015 (144) |
| 43 | EVA_UK10K_ALSPAC | ss1639806500 | Apr 01, 2015 (144) |
| 44 | EVA_UK10K_TWINSUK | ss1682800533 | Apr 01, 2015 (144) |
| 45 | EVA_DECODE | ss1699322118 | Apr 01, 2015 (144) |
| 46 | HAMMER_LAB | ss1809747824 | Sep 08, 2015 (146) |
| 47 | WEILL_CORNELL_DGM | ss1938820108 | Feb 12, 2016 (147) |
| 48 | ILLUMINA | ss1959969443 | Feb 12, 2016 (147) |
| 49 | JJLAB | ss2030182466 | Sep 14, 2016 (149) |
| 50 | ILLUMINA | ss2094811088 | Dec 20, 2016 (150) |
| 51 | USC_VALOUEV | ss2158794645 | Dec 20, 2016 (150) |
| 52 | HUMAN_LONGEVITY | ss2246626460 | Dec 20, 2016 (150) |
| 53 | ILLUMINA | ss2633865914 | Nov 08, 2017 (151) |
| 54 | ILLUMINA | ss2633865915 | Nov 08, 2017 (151) |
| 55 | ILLUMINA | ss2633865916 | Nov 08, 2017 (151) |
| 56 | GRF | ss2704542943 | Nov 08, 2017 (151) |
| 57 | GNOMAD | ss2973362001 | Nov 08, 2017 (151) |
| 58 | SWEGEN | ss3019151620 | Nov 08, 2017 (151) |
| 59 | ILLUMINA | ss3022175671 | Nov 08, 2017 (151) |
| 60 | BIOINF_KMB_FNS_UNIBA | ss3028928661 | Nov 08, 2017 (151) |
| 61 | CSHL | ss3352794045 | Nov 08, 2017 (151) |
| 62 | ILLUMINA | ss3628511825 | Oct 12, 2018 (152) |
| 63 | ILLUMINA | ss3631817929 | Oct 12, 2018 (152) |
| 64 | ILLUMINA | ss3642212458 | Oct 12, 2018 (152) |
| 65 | ILLUMINA | ss3652637473 | Oct 12, 2018 (152) |
| 66 | EGCUT_WGS | ss3685656640 | Jul 13, 2019 (153) |
| 67 | EVA_DECODE | ss3708013476 | Jul 13, 2019 (153) |
| 68 | ILLUMINA | ss3725959728 | Jul 13, 2019 (153) |
| 69 | ACPOP | ss3743851001 | Jul 13, 2019 (153) |
| 70 | EVA | ss3759268630 | Jul 13, 2019 (153) |
| 71 | PAGE_CC | ss3772084261 | Jul 13, 2019 (153) |
| 72 | KHV_HUMAN_GENOMES | ss3822435851 | Jul 13, 2019 (153) |
| 73 | EVA | ss3825967210 | Apr 27, 2020 (154) |
| 74 | EVA | ss3835943334 | Apr 27, 2020 (154) |
| 75 | EVA | ss3841600199 | Apr 27, 2020 (154) |
| 76 | EVA | ss3847114572 | Apr 27, 2020 (154) |
| 77 | SGDP_PRJ | ss3890349493 | Apr 27, 2020 (154) |
| 78 | KRGDB | ss3940740775 | Apr 27, 2020 (154) |
| 79 | VINODS | ss4034756948 | Apr 26, 2021 (155) |
| 80 | TOPMED | ss5106066282 | Apr 26, 2021 (155) |
| 81 | TOMMO_GENOMICS | ss5232203357 | Apr 26, 2021 (155) |
| 82 | 1000G_HIGH_COVERAGE | ss5310777641 | Oct 16, 2022 (156) |
| 83 | EVA | ss5316048847 | Oct 16, 2022 (156) |
| 84 | EVA | ss5440724490 | Oct 16, 2022 (156) |
| 85 | HUGCELL_USP | ss5502655310 | Oct 16, 2022 (156) |
| 86 | EVA | ss5512353916 | Oct 16, 2022 (156) |
| 87 | 1000G_HIGH_COVERAGE | ss5618186543 | Oct 16, 2022 (156) |
| 88 | SANFORD_IMAGENETICS | ss5664312673 | Oct 16, 2022 (156) |
| 89 | TOMMO_GENOMICS | ss5793191332 | Oct 16, 2022 (156) |
| 90 | YY_MCH | ss5818629184 | Oct 16, 2022 (156) |
| 91 | EVA | ss5821944590 | Oct 16, 2022 (156) |
| 92 | EVA | ss5853359275 | Oct 16, 2022 (156) |
| 93 | EVA | ss5881460824 | Oct 16, 2022 (156) |
| 94 | EVA | ss5959165326 | Oct 16, 2022 (156) |
| 95 | EVA | ss5981127817 | Oct 16, 2022 (156) |
| 96 | 1000Genomes | NC_000022.10 - 24236392 | Oct 12, 2018 (152) |
| 97 | 1000Genomes_30x | NC_000022.11 - 23894205 | Oct 16, 2022 (156) |
| 98 | The Avon Longitudinal Study of Parents and Children | NC_000022.10 - 24236392 | Oct 12, 2018 (152) |
| 99 | Genetic variation in the Estonian population | NC_000022.10 - 24236392 | Oct 12, 2018 (152) |
| 100 | The Danish reference pan genome | NC_000022.10 - 24236392 | Apr 27, 2020 (154) |
| 101 | gnomAD - Genomes | NC_000022.11 - 23894205 | Apr 26, 2021 (155) |
| 102 | KOREAN population from KRGDB | NC_000022.10 - 24236392 | Apr 27, 2020 (154) |
| 103 | Northern Sweden | NC_000022.10 - 24236392 | Jul 13, 2019 (153) |
| 104 | The PAGE Study | NC_000022.11 - 23894205 | Jul 13, 2019 (153) |
| 105 | Qatari | NC_000022.10 - 24236392 | Apr 27, 2020 (154) |
| 106 | SGDP_PRJ | NC_000022.10 - 24236392 | Apr 27, 2020 (154) |
| 107 | Siberian | NC_000022.10 - 24236392 | Apr 27, 2020 (154) |
| 108 | 8.3KJPN | NC_000022.10 - 24236392 | Apr 26, 2021 (155) |
| 109 | 14KJPN | NC_000022.11 - 23894205 | Oct 16, 2022 (156) |
| 110 | TopMed | NC_000022.11 - 23894205 | Apr 26, 2021 (155) |
| 111 | UK 10K study - Twins | NC_000022.10 - 24236392 | Oct 12, 2018 (152) |
| 112 | A Vietnamese Genetic Variation Database | NC_000022.10 - 24236392 | Jul 13, 2019 (153) |
| 113 | ALFA | NC_000022.11 - 23894205 | Apr 26, 2021 (155) |
| 114 | ClinVar | RCV000015433.2 | Oct 16, 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) |
|---|---|
| rs1061516 | Jan 18, 2001 (92) |
| rs3171731 | Jul 03, 2002 (106) |
| rs36224310 | Oct 25, 2006 (127) |
| rs58273618 | May 24, 2008 (130) |
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| ss83358618 | NC_000022.8:22560945:G:C | NC_000022.11:23894204:G:C | (self) |
| ss91890517, ss112573053, ss114075818, ss168973856, ss171863597, ss204060033, ss255858988, ss283601224, ss484293608, ss1699322118 | NC_000022.9:22566391:G:C | NC_000022.11:23894204:G:C | (self) |
| 80343498, 44440454, 31394888, 5881059, 47918169, 17135866, 20862030, 42366473, 11310999, 90172664, 44440454, 9806561, ss228633441, ss238033680, ss244161043, ss483897104, ss536091739, ss566579784, ss662508175, ss780449419, ss782392174, ss835939296, ss995253750, ss1082590741, ss1366804849, ss1429230731, ss1579716120, ss1639806500, ss1682800533, ss1809747824, ss1938820108, ss1959969443, ss2030182466, ss2094811088, ss2158794645, ss2633865914, ss2633865915, ss2633865916, ss2704542943, ss2973362001, ss3019151620, ss3022175671, ss3352794045, ss3628511825, ss3631817929, ss3642212458, ss3652637473, ss3685656640, ss3743851001, ss3759268630, ss3825967210, ss3835943334, ss3841600199, ss3890349493, ss3940740775, ss5232203357, ss5316048847, ss5440724490, ss5512353916, ss5664312673, ss5821944590, ss5959165326, ss5981127817 | NC_000022.10:24236391:G:C | NC_000022.11:23894204:G:C | (self) |
| RCV000015433.2, 105712478, 567376583, 1305730, 127028436, 381175229, 5970673869, ss2246626460, ss3028928661, ss3708013476, ss3725959728, ss3772084261, ss3822435851, ss3847114572, ss5106066282, ss5310777641, ss5502655310, ss5618186543, ss5793191332, ss5818629184, ss5853359275, ss5881460824 | NC_000022.11:23894204:G:C | NC_000022.11:23894204:G:C | (self) |
| ss109873, ss1546508, ss4322772, ss4400195, ss4431890, ss6136641, ss6659809, ss8012929, ss12675533, ss28458868, ss44318452, ss49853574, ss51854285, ss76870434, ss107791785, ss138340294, ss157072584 | NT_011520.12:3626960:G:C | NC_000022.11:23894204:G:C | (self) |
| ss4034756948 | NT_187633.1:130566:G:C | NC_000022.11:23894204:G:C | (self) |
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
95
citations for rs755622
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 16380915 | Replication of putative candidate-gene associations with rheumatoid arthritis in >4,000 samples from North America and Sweden: association of susceptibility with PTPN22, CTLA4, and PADI4. | Plenge RM et al. | 2005 | American journal of human genetics |
| 16846490 | Lemierre's syndrome and genetic polymorphisms: a case report. | Constantin JM et al. | 2006 | BMC infectious diseases |
| 17585860 | Macrophage migration inhibitory factor in acute lung injury: expression, biomarker, and associations. | Gao L et al. | 2007 | Translational research |
| 18242614 | Macrophage migration inhibitory factor (MIF) and risk for coronary heart disease: results from the MONICA/KORA Augsburg case-cohort study, 1984-2002. | Herder C et al. | 2008 | Atherosclerosis |
| 18466472 | Constructing gene association networks for rheumatoid arthritis using the backward genotype-trait association (BGTA) algorithm. | Ding Y et al. | 2007 | BMC proceedings |
| 18466513 | Evaluating gene x gene and gene x smoking interaction in rheumatoid arthritis using candidate genes in GAW15. | Mei L et al. | 2007 | BMC proceedings |
| 19167373 | The macrophage migration inhibitory factor (MIF) gene polymorphism in Czech and Russian patients with myocardial infarction. | Tereshchenko IP et al. | 2009 | Clinica chimica acta; international journal of clinical chemistry |
| 19773451 | Role of inflammation gene polymorphisms on pain severity in lung cancer patients. | Reyes-Gibby CC et al. | 2009 | Cancer epidemiology, biomarkers & prevention |
| 19941661 | A MIF haplotype is associated with the outcome of patients with severe sepsis: a case control study. | Lehmann LE et al. | 2009 | Journal of translational medicine |
| 20169173 | Macrophage migration inhibitory factor: critical role in obesity, insulin resistance, and associated comorbidities. | Kleemann R et al. | 2010 | Mediators of inflammation |
| 20388640 | Predictors of response to intra-articular steroid injection in psoriatic arthritis. | Eder L et al. | 2010 | Rheumatology (Oxford, England) |
| 20439102 | Analysis of MIF, FCGR2A and FCGR3A gene polymorphisms with susceptibility to pulmonary tuberculosis in Moroccan population. | Sadki K et al. | 2010 | Journal of genetics and genomics = Yi chuan xue bao |
| 20447688 | The MIF -173G/C polymorphism and risk of childhood acute lymphoblastic leukemia in a Chinese population. | Xue Y et al. | 2010 | Leukemia research |
| 20471506 | Polymorphisms in the macrophage migration inhibitory factor gene and bone loss in postmenopausal women. | Swanberg M et al. | 2010 | Bone |
| 20811626 | Genetic variants in inflammation-related genes are associated with radiation-induced toxicity following treatment for non-small cell lung cancer. | Hildebrandt MA et al. | 2010 | PloS one |
| 21553324 | Polymorphisms of the MDR1 and MIF genes in children with nephrotic syndrome. | Choi HJ et al. | 2011 | Pediatric nephrology (Berlin, Germany) |
| 21658257 | The SLC2A9 nonsynonymous Arg265His variant and gout: evidence for a population-specific effect on severity. | Hollis-Moffatt JE et al. | 2011 | Arthritis research & therapy |
| 22113576 | Polymorphisms in immune function genes and non-Hodgkin lymphoma survival. | Aschebrook-Kilfoy B et al. | 2012 | Journal of cancer survivorship |
| 22127710 | Dual effect of the macrophage migration inhibitory factor gene on the development and severity of human systemic lupus erythematosus. | Sreih A et al. | 2011 | Arthritis and rheumatism |
| 22295056 | Genome wide association identifies PPFIA1 as a candidate gene for acute lung injury risk following major trauma. | Christie JD et al. | 2012 | PloS one |
| 22417159 | DNA sequence variation and regulation of genes involved in pathogenesis of pulmonary tuberculosis. | Qidwai T et al. | 2012 | Scandinavian journal of immunology |
| 22568453 | Association of CASP3 polymorphism with hematologic toxicity in patients with advanced non-small-cell lung carcinoma treated with platinum-based chemotherapy. | Gu S et al. | 2012 | Cancer science |
| 22820623 | Association of MIF-173G/C and MBL2 codon 54 gene polymorphisms with rheumatoid arthritis: a meta-analysis. | Xie Q et al. | 2012 | Human immunology |
| 22939113 | Association of macrophage migration inhibitory factor gene polymorphisms with Behçet's disease in a Han Chinese population. | Zheng X et al. | 2012 | Ophthalmology |
| 23402792 | Macrophage migration inhibitory factor (MIF): genetic evidence for participation in early onset and early stage rheumatoid arthritis. | Llamas-Covarrubias MA et al. | 2013 | Cytokine |
| 23913513 | The role of macrophage migration inhibitory factor in autoimmune liver disease. | Assis DN et al. | 2014 | Hepatology (Baltimore, Md.) |
| 24151396 | Macrophage migration inhibitory factor gene polymorphisms in inflammatory bowel disease: an association study in New Zealand Caucasians and meta-analysis. | Falvey JD et al. | 2013 | World journal of gastroenterology |
| 24194192 | MIF gene polymorphisms confer susceptibility to Vogt-Koyanagi-Harada syndrome in a Han Chinese population. | Zhang C et al. | 2013 | Investigative ophthalmology & visual science |
| 24337767 | Candidate's single-nucleotide polymorphism predictors of treatment nonresponse to the first anti-TNF inhibitor in ankylosing spondylitis. | Schiotis R et al. | 2014 | Rheumatology international |
| 24530749 | Macrophage migration inhibitory factor: association of -794 CATT5-8 and -173 G>C polymorphisms with TNF-α in systemic lupus erythematosus. | De la Cruz-Mosso U et al. | 2014 | Human immunology |
| 24951298 | Macrophage migration inhibitory factor (MIF) -173 polymorphism is associated with clinical erythema nodosum in Löfgren's syndrome. | Karakaya B et al. | 2014 | Cytokine |
| 25124382 | Methylenetetrahydrofolate reductase C667T polymorphism is associated with increased risk of coronary artery disease in a Chinese population. | Chen W et al. | 2014 | Scandinavian journal of immunology |
| 25294155 | A comprehensive evaluation of the role of genetic variation in follicular lymphoma survival. | Baecklund F et al. | 2014 | BMC medical genetics |
| 25329590 | Macrophage migration inhibitory factor -173G/C gene polymorphism increases the risk of renal disease: a meta-analysis. | Tong X et al. | 2015 | Nephrology (Carlton, Vic.) |
| 25600533 | Lack of association between MIF gene -173G>C polymorphism with multiple sclerosis. | Cevik B et al. | 2015 | In vivo (Athens, Greece) |
| 25980667 | Pharmacogenetics of treatment response in psoriatic arthritis. | Jani M et al. | 2015 | Current rheumatology reports |
| 26104808 | That's not it, either-neither polymorphisms in PHOX2B nor in MIF are involved in sudden infant death syndrome (SIDS). | Poetsch M et al. | 2015 | International journal of legal medicine |
| 26345783 | -173G/C polymorphism in the promoter of MIF is associated with hepatitis B virus infection in a Chinese Han population. | Wang ZS et al. | 2015 | Genetics and molecular research |
| 26426302 | Association between Macrophage Migration Inhibitory Factor Gene Variation and Response to Glucocorticoid Treatment in Sudden Sensorineural Hearing Loss. | Yazdani N et al. | 2015 | Audiology & neuro-otology |
| 26541175 | A genetic study of steroid-resistant nephrotic syndrome: relationship between polymorphism -173 G to C in the MIF gene and serum level MIF in children. | Ramayani OR et al. | 2016 | Journal of developmental origins of health and disease |
| 26542751 | Functional polymorphisms in the gene encoding macrophage migration inhibitory factor (MIF) are associated with active pulmonary tuberculosis. | Kuai SG et al. | 2016 | Infectious diseases (London, England) |
| 26613086 | Polymorphisms Associated with Age at Onset in Patients with Moderate-to-Severe Plaque Psoriasis. | Prieto-Pérez R et al. | 2015 | Journal of immunology research |
| 26656832 | Single nucleotide polymorphisms in cytokine MIF gene promoter region are closely associated with human susceptibility to tuberculosis in a southwestern province of China. | Liu A et al. | 2016 | Infection, genetics and evolution |
| 26667837 | Polymorphisms in Host Immunity-Modulating Genes and Risk of Invasive Aspergillosis: Results from the AspBIOmics Consortium. | Lupiañez CB et al. | 2015 | Infection and immunity |
| 26870349 | Impact of single-nucleotide polymorphisms on radiation pneumonitis in cancer patients. | Guo CX et al. | 2016 | Molecular and clinical oncology |
| 26895959 | Association Between MIF-AS rs755622 and Nephrolithiasis Risk in a Chinese Population. | Ma G et al. | 2016 | Medical science monitor |
| 26976591 | Functional polymorphisms of macrophage migration inhibitory factor as predictors of morbidity and mortality of pneumococcal meningitis. | Savva A et al. | 2016 | Proceedings of the National Academy of Sciences of the United States of America |
| 27105877 | Association of Genetic Polymorphisms in TNF and MIF Gene with the Risk of Primary Dysmenorrhea. | Dogru HY et al. | 2016 | Biochemical genetics |
| 27159875 | Sex and Gender Differences in Risk, Pathophysiology and Complications of Type 2 Diabetes Mellitus. | Kautzky-Willer A et al. | 2016 | Endocrine reviews |
| 27247801 | Single Nucleotide Polymorphisms in Pediatric Idiopathic Nephrotic Syndrome. | Suvanto M et al. | 2016 | International journal of nephrology |
| 27430937 | Functional dyspepsia susceptibility is related to CD14, GNB3, MIF, and TRPV1 gene polymorphisms in the Greek population. | Triantafyllou K et al. | 2017 | Neurogastroenterology and motility |
| 27696094 | A Macrophage Migration Inhibitory Factor Polymorphism Is Associated with Autoimmune Hepatitis Severity in US and Japanese Patients. | Assis DN et al. | 2016 | Digestive diseases and sciences |
| 27844180 | Association of genetic polymorphisms in MIF with breast cancer risk in Chinese women. | Lin S et al. | 2017 | Clinical and experimental medicine |
| 28578664 | Macrophage migration inhibitory factor promoter polymorphisms (-794 CATT5-8): Relationship with soluble MIF levels in coronary atherosclerotic disease subjects. | Qian L et al. | 2017 | BMC cardiovascular disorders |
| 28646884 | The increased concentration of macrophage migration inhibitory factor in serum and cerebrospinal fluid of patients with tick-borne encephalitis. | Grygorczuk S et al. | 2017 | Journal of neuroinflammation |
| 28657145 | Macrophage Migration Inhibitory Factor (MIF) Gene Promotor Polymorphism Is Associated with Increased Fibrosis in Biliary Atresia Patients, but Not with Disease Susceptibility. | Sadek KH et al. | 2017 | Annals of human genetics |
| 28668810 | An MIF Promoter Polymorphism Is Associated with Susceptibility to Pulmonary Arterial Hypertension in Diffuse Cutaneous Systemic Sclerosis. | Bossini-Castillo L et al. | 2017 | The Journal of rheumatology |
| 29208960 | MIF -173 G > C (rs755622) Gene Polymorphism Modulates Tuberculosis Risk: Evidence from a Meta-analysis and Trial Sequential Analysis. | Areeshi MY et al. | 2017 | Scientific reports |
| 29545822 | Macrophage Migration Inhibitory Factor -173 G/C Polymorphism: A Global Meta-Analysis across the Disease Spectrum. | Illescas O et al. | 2018 | Frontiers in genetics |
| 29661540 | MIF functional polymorphisms (-794 CATT(5-8) and -173 G>C) are associated with MIF serum levels, severity and progression in male multiple sclerosis from western Mexican population. | Castañeda-Moreno VA et al. | 2018 | Journal of neuroimmunology |
| 29996006 | MIF-173G/C (rs755622) polymorphism as a risk factor for acute lymphoblastic leukemia development in children. | Sharaf-Eldein M et al. | 2018 | The journal of gene medicine |
| 30140701 | Genetic Variant rs755622 Regulates Expression of the Multiple Sclerosis Severity Modifier D-Dopachrome Tautomerase in a Sex-Specific Way. | Han Z et al. | 2018 | BioMed research international |
| 30182779 | Genetic susceptibility to cerebrovascular disease: A systematic review. | Griessenauer CJ et al. | 2018 | Journal of cerebral blood flow and metabolism |
| 30628898 | [Macrophage migration inhibitory factor (MIF) gene -173 G>C polymorphism and its relationship to coronary artery disease and type 2 diabetes]. | Çoban N et al. | 2019 | Turk Kardiyoloji Dernegi arsivi |
| 30747392 | Macrophage migration inhibitory factor polymorphisms are a potential susceptibility marker in systemic sclerosis from southern Mexican population: association with MIF mRNA expression and cytokine profile. | Baños-Hernández CJ et al. | 2019 | Clinical rheumatology |
| 30903991 | MIF 173 G>C variation was associated with depressive disorder in type 2 diabetes in an Iranian population. | Hamidi AK et al. | 2019 | Psychoneuroendocrinology |
| 31154458 | Macrophage migration inhibitory factor polymorphism (rs755622) in alopecia areata: a possible role in disease prevention. | Rajabi F et al. | 2019 | Archives of dermatological research |
| 31370326 | Genetic Variants in the Promoter Region of the Macrophage Migration Inhibitory Factor are Associated with the Severity of Hepatitis C Virus-Induced Liver Fibrosis. | Wirtz TH et al. | 2019 | International journal of molecular sciences |
| 31422388 | Macrophage Migration Inhibitory Factor -173 G>C Gene Polymorphism Is Associated with Increased Risk of Nephrotic Syndrome in Children. | Sadeghi-Bojd S et al. | 2019 | Iranian journal of kidney diseases |
| 31475028 | Host Genetic Determinants of Hepatitis B Virus Infection. | Zhang Z et al. | 2019 | Frontiers in genetics |
| 31701681 | Macrophage migration inhibitory factor promoter polymorphisms are associated with disease activity in rheumatoid arthritis patients from Southern Mexico. | Santoscoy-Ascencio G et al. | 2020 | Molecular genetics & genomic medicine |
| 31745872 | Genotyping Two Promoter Polymorphisms in the MIF Gene: A -794 CATT(5-8) Microsatellite Repeat and a -173 G/C SNP. | Leng L et al. | 2020 | Methods in molecular biology (Clifton, N.J.) |
| 31924846 | MIF gene rs755622 polymorphism positively associated with acute coronary syndrome in Chinese Han population: case-control study. | Du GL et al. | 2020 | Scientific reports |
| 31978276 | Association of the genetic variants (-794 CATT5-8 and -173 G > C) of macrophage migration inhibitory factor (MIF) with higher soluble levels of MIF and TNFα in women with breast cancer. | Avalos-Navarro G et al. | 2020 | Journal of clinical laboratory analysis |
| 31988876 | Polymorphism in Macrophage Migration Inhibitory Factor -173GC in Pediatric Patients with Autoimmune Hepatitis. | Alsayed MAL et al. | 2020 | Pediatric gastroenterology, hepatology & nutrition |
| 32044623 | A novel gene-wide haplotype at the macrophage migration inhibitory factor (MIF) locus is associated with endometrioma. | Chekini Z et al. | 2020 | European journal of obstetrics, gynecology, and reproductive biology |
| 32560699 | MIF -173G/C (rs755622) polymorphism modulates coronary artery disease risk: evidence from a systematic meta-analysis. | Li DY et al. | 2020 | BMC cardiovascular disorders |
| 32800392 | Functional variants in the promoter region of macrophage migration inhibitory factor rs755622 gene (MIF G173C) among patients with heart failure: Association with echocardiographic indices and disease severity. | El-Mahdy RI et al. | 2021 | Heart & lung |
| 32811420 | Role of MIF-173G/C and Mbl2 Codon 54A/B Variants in the Risk of Multiple Myeloma: An Association Study. | Pehlivan M et al. | 2021 | Endocrine, metabolic & immune disorders drug targets |
| 32932965 | The Macrophage Migration Inhibitory Factor (MIF) Promoter Polymorphisms (rs3063368, rs755622) Predict Acute Kidney Injury and Death after Cardiac Surgery. | Averdunk L et al. | 2020 | Journal of clinical medicine |
| 33046033 | Influence of MIF polymorphisms on CpG island hyper-methylation of CDKN2A in the patients with ulcerative colitis. | Sakurai N et al. | 2020 | BMC medical genetics |
| 33264374 | Macrophage Migration Inhibitory Factor is not Associated with Sarcoidosis Susceptibility or Severity in Whites or Blacks. | Odio CD et al. | 2020 | Sarcoidosis, vasculitis, and diffuse lung diseases |
| 33469341 | Genetic Variants of the MIF Gene and Susceptibility of Rectal Cancer. | Chuo D et al. | 2021 | Pharmacogenomics and personalized medicine |
| 33610191 | Macrophage migration inhibitory factor may play a protective role in osteoarthritis. | Liu M et al. | 2021 | Arthritis research & therapy |
| 33850223 | Association between MIF gene promoter rs755622 and susceptibility to coronary artery disease and inflammatory cytokines in the Chinese Han population. | Luo JY et al. | 2021 | Scientific reports |
| 34093770 | MIF promoter polymorphism increases peripheral blood expression levels, contributing to increased susceptibility and poor prognosis in hepatocellular carcinoma. | Qin L et al. | 2021 | Oncology letters |
| 34533238 | Macrophage migration inhibitory factor gene polymorphisms (SNP -173 G>C and STR-794 CATT5-8) confer risk of plaque psoriasis: A case-control study. | Hernández-Bello J et al. | 2021 | Journal of clinical laboratory analysis |
| 34834553 | Innate-Immunity Genes in Obesity. | Mikhailova SV et al. | 2021 | Journal of personalized medicine |
| 34900076 | Association of MIF gene polymorphisms with pemphigus vulgaris: a case-control study with comprehensive review of the literature. | Gupta P et al. | 2021 | International journal of clinical and experimental pathology |
| 35065510 | The influence of Interleukin-6, Interleukin-8, Interleukin-10, Interleukin-17, TNF-A, MIF, STAT3 on lung cancer risk in Moroccan population. | Kaanane H et al. | 2022 | Cytokine |
| 35205271 | MIF rs755622 and IL6 rs1800795 Are Implied in Genetic Susceptibility to End-Stage Renal Disease (ESRD). | Guarneri M et al. | 2022 | Genes |
| 35367937 | Correlation of MIF-AS1 polymorphisms with the risk and prognosis of gastric cancer. | Ni P et al. | 2022 | Pathology, research and practice |
| 35372081 | Association of Polymorphisms in Inflammation Genes With the Prognosis of Advanced Non-Small Cell Lung Cancer Patients Receiving Epidermal Growth Factor Receptor Tyrosine Kinase Inhibitors. | Zhang X et al. | 2022 | Frontiers in oncology |
| 35450164 | Pathophysiological Role of Genetic Factors Associated With Gestational Diabetes Mellitus. | Ortega-Contreras B et al. | 2022 | Frontiers in physiology |
| 35712358 | Expression Patterns of Macrophage Migration Inhibitory Factor and Its Gene Variants (MIF-173 G˃C) in Verruca Vulgaris. | Hassan MH et al. | 2022 | Clinical, cosmetic and investigational dermatology |
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.