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dbSNP Short Genetic Variations

Reference SNP (rs) Report

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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.

rs4711998

Current Build 151

Released July 17, 2018

Organism
Homo sapiens
Position
chr6:52185555 (GRCh38.p7) 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
A>G
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.38231 (48006/125568, TOPMED)
A=0.3756 (11589/30856, GnomAD)
A=0.480 (2404/5008, 1000G) (+ 2 more)
A=0.265 (1021/3854, ALSPAC)
A=0.245 (909/3708, TWINSUK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
IL17A : 2KB Upstream Variant
Publications
22 citations
Genomic View
See rs on genome
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.p7 chr 6 NC_000006.12:g.52185555A>G
GRCh37.p13 chr 6 NC_000006.11:g.52050353A>G
IL17A RefSeqGene (LRG_1223) NG_033021.1:g.4169A>G
Gene: IL17A, interleukin 17A (plus strand) : 2KB Upstream Variant
Molecule type Change Amino acid[Codon] SO Term
IL17A transcript NM_002190.2:c. N/A Upstream 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

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").

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Study Population Group Sample Size Ref Allele Alt Allele
Trans-Omics for Precision Medicine Global Study-wide 125568 A=0.38231 G=0.61769
The Genome Aggregation Database Global Study-wide 30856 A=0.3756 G=0.6244
The Genome Aggregation Database European Sub 18446 A=0.2670 G=0.7330
The Genome Aggregation Database African Sub 8678 A=0.566 G=0.434
The Genome Aggregation Database East Asian Sub 1614 A=0.726 G=0.274
The Genome Aggregation Database Other Sub 978 A=0.32 G=0.68
The Genome Aggregation Database American Sub 838 A=0.24 G=0.76
The Genome Aggregation Database Ashkenazi Jewish Sub 302 A=0.22 G=0.78
1000Genomes Global Study-wide 5008 A=0.480 G=0.520
1000Genomes African Sub 1322 A=0.570 G=0.430
1000Genomes East Asian Sub 1008 A=0.773 G=0.227
1000Genomes Europe Sub 1006 A=0.258 G=0.742
1000Genomes South Asian Sub 978 A=0.45 G=0.55
1000Genomes American Sub 694 A=0.25 G=0.75
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.265 G=0.735
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.245 G=0.755
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 A= G Note
GRCh38.p7 chr 6 NC_000006.12:g.52185555A= NC_000006.12:g.52185555A>G
GRCh37.p13 chr 6 NC_000006.11:g.52050353A= NC_000006.11:g.52050353A>G
IL17A RefSeqGene (LRG_1223) NG_033021.1:g.4169A= NG_033021.1:g.4169A>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#.

5 Frequency, 86 SubSNP submissions
No Submitter Submission ID Date (Build)
1 WI_SSAHASNP ss6492894 Feb 20, 2003 (111)
2 RIKENSNPRC ss12588063 Aug 26, 2003 (117)
3 SC_SNP ss12869302 Dec 05, 2003 (119)
4 CSHL-HAPMAP ss17134883 Feb 27, 2004 (120)
5 CSHL-HAPMAP ss20286411 Feb 27, 2004 (120)
6 SSAHASNP ss22431696 Apr 05, 2004 (121)
7 PERLEGEN ss23341437 Sep 20, 2004 (123)
8 PGA-UW-FHCRC ss28528498 Dec 02, 2004 (126)
9 ABI ss44750079 Mar 11, 2006 (126)
10 PGA-UW-FHCRC ss52087310 Oct 16, 2006 (127)
11 ILLUMINA ss65752149 Oct 16, 2006 (127)
12 AFFY ss66358035 Dec 01, 2006 (127)
13 PERLEGEN ss68977060 May 17, 2007 (127)
14 AFFY ss76074603 Dec 08, 2007 (130)
15 KRIBB_YJKIM ss82098261 Dec 14, 2007 (130)
16 BCMHGSC_JDW ss93460356 Mar 24, 2008 (129)
17 HUMANGENOME_JCVI ss98393142 Feb 04, 2009 (130)
18 BGI ss104312962 Dec 01, 2009 (131)
19 1000GENOMES ss110119806 Jan 24, 2009 (130)
20 ILLUMINA-UK ss116467515 Feb 14, 2009 (130)
21 ENSEMBL ss143910366 Dec 01, 2009 (131)
22 ENSEMBL ss144336062 Dec 01, 2009 (131)
23 ILLUMINA ss154310020 Dec 01, 2009 (131)
24 GMI ss156932797 Dec 01, 2009 (131)
25 ILLUMINA ss159486760 Dec 01, 2009 (131)
26 ILLUMINA ss160701353 Dec 01, 2009 (131)
27 COMPLETE_GENOMICS ss166669169 Jul 04, 2010 (132)
28 AFFY ss172411337 Jul 04, 2010 (132)
29 ILLUMINA ss173787328 Jul 04, 2010 (132)
30 BCM-HGSC-SUB ss207436510 Jul 04, 2010 (132)
31 1000GENOMES ss211840503 Jul 14, 2010 (132)
32 1000GENOMES ss222395692 Jul 14, 2010 (132)
33 1000GENOMES ss233474581 Jul 14, 2010 (132)
34 1000GENOMES ss240529755 Jul 15, 2010 (132)
35 BL ss254323236 May 09, 2011 (134)
36 GMI ss278796535 May 04, 2012 (137)
37 GMI ss285404658 Apr 25, 2013 (138)
38 PJP ss293599142 May 09, 2011 (134)
39 ILLUMINA ss481014006 May 04, 2012 (137)
40 ILLUMINA ss481034942 May 04, 2012 (137)
41 ILLUMINA ss482019761 Sep 08, 2015 (146)
42 ILLUMINA ss485301976 May 04, 2012 (137)
43 ILLUMINA ss537262259 Sep 08, 2015 (146)
44 TISHKOFF ss559207796 Apr 25, 2013 (138)
45 SSMP ss653151900 Apr 25, 2013 (138)
46 ILLUMINA ss779043454 Sep 08, 2015 (146)
47 ILLUMINA ss783096846 Sep 08, 2015 (146)
48 ILLUMINA ss784054152 Sep 08, 2015 (146)
49 ILLUMINA ss832355380 Sep 08, 2015 (146)
50 ILLUMINA ss834506325 Sep 08, 2015 (146)
51 EVA-GONL ss982939735 Aug 21, 2014 (142)
52 JMKIDD_LAB ss1073621374 Aug 21, 2014 (142)
53 1000GENOMES ss1320161127 Aug 21, 2014 (142)
54 HAMMER_LAB ss1397456616 Sep 08, 2015 (146)
55 DDI ss1430723799 Apr 01, 2015 (144)
56 EVA_GENOME_DK ss1581675489 Apr 01, 2015 (144)
57 EVA_DECODE ss1592477048 Apr 01, 2015 (144)
58 EVA_UK10K_ALSPAC ss1615596492 Apr 01, 2015 (144)
59 EVA_UK10K_TWINSUK ss1658590525 Apr 01, 2015 (144)
60 EVA_SVP ss1712863997 Apr 01, 2015 (144)
61 ILLUMINA ss1752641195 Sep 08, 2015 (146)
62 HAMMER_LAB ss1804431546 Sep 08, 2015 (146)
63 WEILL_CORNELL_DGM ss1926195550 Feb 12, 2016 (147)
64 GENOMED ss1970398156 Jul 19, 2016 (147)
65 JJLAB ss2023738209 Sep 14, 2016 (149)
66 ILLUMINA ss2095183696 Dec 20, 2016 (150)
67 USC_VALOUEV ss2151917134 Dec 20, 2016 (150)
68 HUMAN_LONGEVITY ss2284155705 Dec 20, 2016 (150)
69 TOPMED ss2452534775 Dec 20, 2016 (150)
70 SYSTEMSBIOZJU ss2626355111 Nov 08, 2017 (151)
71 ILLUMINA ss2634454054 Nov 08, 2017 (151)
72 GRF ss2707516889 Nov 08, 2017 (151)
73 GNOMAD ss2839083697 Nov 08, 2017 (151)
74 SWEGEN ss2999074338 Nov 08, 2017 (151)
75 BIOINF_KMB_FNS_UNIBA ss3025661099 Nov 08, 2017 (151)
76 CSHL ss3346965557 Nov 08, 2017 (151)
77 TOPMED ss3497646994 Nov 08, 2017 (151)
78 ILLUMINA ss3629550908 Jul 20, 2018 (151)
79 ILLUMINA ss3632370585 Jul 20, 2018 (151)
80 ILLUMINA ss3634145321 Jul 20, 2018 (151)
81 ILLUMINA ss3635068759 Jul 20, 2018 (151)
82 ILLUMINA ss3635826141 Jul 20, 2018 (151)
83 ILLUMINA ss3636791478 Jul 20, 2018 (151)
84 ILLUMINA ss3637578957 Jul 20, 2018 (151)
85 ILLUMINA ss3638631227 Jul 20, 2018 (151)
86 ILLUMINA ss3640776059 Jul 20, 2018 (151)
87 1000Genomes NC_000006.11 - 52050353 Jul 20, 2018 (151)
88 The Avon Longitudinal Study of Parents and Children NC_000006.11 - 52050353 Jul 20, 2018 (151)
89 The Genome Aggregation Database NC_000006.11 - 52050353 Jul 20, 2018 (151)
90 Trans-Omics for Precision Medicine NC_000006.12 - 52185555 Jul 20, 2018 (151)
91 UK 10K study - Twins NC_000006.11 - 52050353 Jul 20, 2018 (151)
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)
rs17883547 Mar 11, 2006 (126)
rs56544712 May 23, 2008 (130)
rs58027746 Feb 26, 2009 (130)
Added to this RefSNP Cluster:
Submission ids Observation SPDI Canonical SPDI Source RSIDs
ss66358035, ss76074603, ss93460356, ss110119806, ss116467515, ss166669169, ss172411337, ss207436510, ss211840503, ss254323236, ss278796535, ss285404658, ss293599142, ss481014006, ss1397456616, ss1592477048, ss1712863997 NC_000006.10:52158311:A= NC_000006.12:52185554:A= (self)
31950629, 17818276, 179711454, 17818276, ss222395692, ss233474581, ss240529755, ss481034942, ss482019761, ss485301976, ss537262259, ss559207796, ss653151900, ss779043454, ss783096846, ss784054152, ss832355380, ss834506325, ss982939735, ss1073621374, ss1320161127, ss1430723799, ss1581675489, ss1615596492, ss1658590525, ss1752641195, ss1804431546, ss1926195550, ss1970398156, ss2023738209, ss2095183696, ss2151917134, ss2452534775, ss2626355111, ss2634454054, ss2707516889, ss2839083697, ss2999074338, ss3346965557, ss3629550908, ss3632370585, ss3634145321, ss3635068759, ss3635826141, ss3636791478, ss3637578957, ss3638631227, ss3640776059 NC_000006.11:52050352:A= NC_000006.12:52185554:A= (self)
338104534, ss2284155705, ss3025661099, ss3497646994 NC_000006.12:52185554:A= NC_000006.12:52185554:A= (self)
ss12869302, ss17134883, ss20286411, ss22431696 NT_007592.13:42847460:A= NC_000006.12:52185554:A= (self)
ss6492894, ss12588063, ss23341437, ss28528498, ss44750079, ss52087310, ss65752149, ss68977060, ss82098261, ss98393142, ss104312962, ss143910366, ss144336062, ss154310020, ss156932797, ss159486760, ss160701353, ss173787328 NT_007592.15:51990352:A= NC_000006.12:52185554:A= (self)
ss66358035, ss76074603, ss93460356, ss110119806, ss116467515, ss166669169, ss172411337, ss207436510, ss211840503, ss254323236, ss278796535, ss285404658, ss293599142, ss481014006, ss1397456616, ss1592477048, ss1712863997 NC_000006.10:52158311:A>G NC_000006.12:52185554:A>G (self)
31950629, 17818276, 179711454, 17818276, ss222395692, ss233474581, ss240529755, ss481034942, ss482019761, ss485301976, ss537262259, ss559207796, ss653151900, ss779043454, ss783096846, ss784054152, ss832355380, ss834506325, ss982939735, ss1073621374, ss1320161127, ss1430723799, ss1581675489, ss1615596492, ss1658590525, ss1752641195, ss1804431546, ss1926195550, ss1970398156, ss2023738209, ss2095183696, ss2151917134, ss2452534775, ss2626355111, ss2634454054, ss2707516889, ss2839083697, ss2999074338, ss3346965557, ss3629550908, ss3632370585, ss3634145321, ss3635068759, ss3635826141, ss3636791478, ss3637578957, ss3638631227, ss3640776059 NC_000006.11:52050352:A>G NC_000006.12:52185554:A>G (self)
338104534, ss2284155705, ss3025661099, ss3497646994 NC_000006.12:52185554:A>G NC_000006.12:52185554:A>G (self)
ss12869302, ss17134883, ss20286411, ss22431696 NT_007592.13:42847460:A>G NC_000006.12:52185554:A>G (self)
ss6492894, ss12588063, ss23341437, ss28528498, ss44750079, ss52087310, ss65752149, ss68977060, ss82098261, ss98393142, ss104312962, ss143910366, ss144336062, ss154310020, ss156932797, ss159486760, ss160701353, ss173787328 NT_007592.15:51990352:A>G NC_000006.12:52185554:A>G (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

22 citations for rs4711998
PMID Title Author Year Journal
22026963 IL17A genetic variation is associated with altered susceptibility to Gram-positive infection and mortality of severe sepsis. Nakada TA et al. 2011 Critical care (London, England)
22844404 Evidence of associations between cytokine genes and subjective reports of sleep disturbance in oncology patients and their family caregivers. Miaskowski C et al. 2012 PloS one
23131423 Interleukin-17A genetic variants can confer resistance to brucellosis in Iranian population. Rasouli M et al. 2013 Cytokine
24502445 Cytokine candidate genes predict the development of secondary lymphedema following breast cancer surgery. Leung G et al. 2014 Lymphatic research and biology
24919468 Influence of the IL17A locus in giant cell arteritis susceptibility. Márquez A et al. 2014 Annals of the rheumatic diseases
25429834 Interleukin-17A and interleukin-17F gene polymorphisms and hepatitis B virus-related hepatocellular carcinoma risk in a Chinese population. Xi XE et al. 2015 Medical oncology (Northwood, London, England)
25595174 Specific association of IL17A genetic variants with panuveitis. Mucientes A et al. 2015 The British journal of ophthalmology
25597472 Genetic association between Interleukin-17A gene polymorphisms and the pathogenesis of Graves' disease in the Han Chinese population. Qi Y et al. 2016 Clinical endocrinology
25871515 Association between interleukin 17A polymorphisms and susceptibility to rheumatoid arthritis in a Chinese population. Shen L et al. 2015 Gene
26223249 Polymorphisms in interleukin 17A gene and coal workers' pneumoconiosis risk in a Chinese population. Han R et al. 2015 BMC pulmonary medicine
26300019 IL-17 polymorphisms and asthma risk: a meta-analysis of 11 single nucleotide polymorphisms. Jin Y et al. 2015 The Journal of asthma
26468780 Investigation of the role of IL17A gene variants in Chagas disease. Leon Rodriguez DA et al. 2015 Genes and immunity
26546176 Association of IL-17A and IL-17F gene polymorphisms with chronic hepatitis B and hepatitis B virus-related liver cirrhosis in a Chinese population: A case-control study. Wang J et al. 2016 Clinics and research in hepatology and gastroenterology
26843459 Role of IL-17A rs2275913 and IL-17F rs763780 polymorphisms in risk of cancer development: an updated meta-analysis. Dai ZM et al. 2016 Scientific reports
27003425 Inflammatory and Immune Response Genes Polymorphisms are Associated with Susceptibility to Chronic Obstructive Pulmonary Disease in Tatars Population from Russia. Korytina GF et al. 2016 Biochemical genetics
27019828 IL-17 and IL-22 genetic polymorphisms in HBV vaccine non- and low-responders among healthcare workers. Borzooy Z et al. 2016 Germs
27376313 Meta-Analysis for the Association between Polymorphisms in Interleukin-17A and Risk of Coronary Artery Disease. Bao MH et al. 2016 International journal of environmental research and public health
27399111 Common variants in IL-17A/IL-17RA axis contribute to predisposition to and progression of congestive heart failure. Sandip C et al. 2016 Medicine
27570418 Hepatitis-related hepatocellular carcinoma: Insights into cytokine gene polymorphisms. Dondeti MF et al. 2016 World journal of gastroenterology
28069745 Associations between circulating IL-17 levels and rheumatoid arthritis and between IL-17 gene polymorphisms and disease susceptibility: a meta-analysis. Lee YH et al. 2017 Postgraduate medical journal
28595093 Association of polymorphisms in key Th-17 immune response genes with HBeAg-positive chronic hepatitis B susceptibility and response to PEG-IFNa-2α. Ju H et al. 2017 Virology
28916742 Haplotype of the Interleukin 17A gene is associated with osteitis after Bacillus Calmette-Guerin vaccination. Korppi M et al. 2017 Scientific reports

Genomic regions, transcripts, and products
Top 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.

Software version is: 0.1.4.post833+d3ba21e