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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.


Current Build 155

Released April 9, 2021

Homo sapiens
chr7:22727026 (GRCh38.p13) 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.

C>G / C>T
Variation Type
SNV Single Nucleotide Variation
C=0.249794 (66118/264690, TOPMED)
C=0.290507 (40646/139914, GnomAD)
C=0.12649 (9955/78700, PAGE_STUDY) (+ 19 more)
C=0.36098 (6819/18890, ALFA)
C=0.00006 (1/16758, 8.3KJPN)
C=0.1412 (707/5008, 1000G)
G=0.4933 (2210/4480, Estonian)
C=0.4263 (1643/3854, ALSPAC)
C=0.4218 (1564/3708, TWINSUK)
C=0.0020 (6/2930, KOREAN)
C=0.0027 (5/1832, Korea1K)
C=0.1699 (245/1442, HapMap)
C=0.418 (417/998, GoNL)
C=0.010 (8/792, PRJEB37584)
C=0.487 (292/600, NorthernSweden)
C=0.099 (53/536, SGDP_PRJ)
G=0.088 (47/534, MGP)
C=0.139 (30/216, Qatari)
C=0.009 (2/214, Vietnamese)
C=0.30 (26/86, Ancient Sardinia)
C=0.26 (12/46, Siberian)
C=0.47 (19/40, GENOME_DK)
Clinical Significance
Reported in ClinVar
Gene : Consequence
IL6 : Intron Variant
IL6-AS1 : Intron Variant
530 citations
Genomic View
See rs on genome

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.p13 chr 7 NC_000007.14:g.22727026C>G
GRCh38.p13 chr 7 NC_000007.14:g.22727026C>T
GRCh37.p13 chr 7 NC_000007.13:g.22766645C>G
GRCh37.p13 chr 7 NC_000007.13:g.22766645C>T
IL6 RefSeqGene NG_011640.1:g.4880C>G
IL6 RefSeqGene NG_011640.1:g.4880C>T
Gene: IL6, interleukin 6 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
IL6 transcript variant 1 NM_000600.5:c. N/A Genic Upstream Transcript Variant
IL6 transcript variant 2 NM_001318095.2:c. N/A Genic Upstream Transcript Variant
IL6 transcript variant 3 NM_001371096.1:c. N/A Genic Upstream Transcript Variant
IL6 transcript variant X2 XM_011515390.2:c.-84-153C…


N/A Intron Variant
IL6 transcript variant X1 XM_005249745.5:c. N/A Genic Upstream Transcript Variant
Gene: IL6-AS1, IL6 antisense RNA 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
IL6-AS1 transcript NR_131935.1:n. N/A Intron Variant

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: G (allele ID: 29757 )
ClinVar Accession Disease Names Clinical Significance
RCV000015833.3 Rheumatoid arthritis, systemic juvenile, susceptibility to Risk-Factor
RCV000015834.3 Kaposi sarcoma, susceptibility to Risk-Factor
RCV000015837.3 Crohn disease-associated growth failure, susceptibility to Risk-Factor
RCV000015838.3 Intracranial hemorrhage in brain cerebrovascular malformations, susceptibility to Risk-Factor
RCV001281345.1 Diabetes mellitus, type 1, susceptibility to Risk-Factor
RCV001281346.1 Diabetes mellitus type 2, susceptibility to Risk-Factor

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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 18890 C=0.36098 G=0.63902
European Sub 14286 C=0.44001 G=0.55999
African Sub 2946 C=0.0662 G=0.9338
African Others Sub 114 C=0.009 G=0.991
African American Sub 2832 C=0.0685 G=0.9315
Asian Sub 112 C=0.000 G=1.000
East Asian Sub 86 C=0.00 G=1.00
Other Asian Sub 26 C=0.00 G=1.00
Latin American 1 Sub 146 C=0.171 G=0.829
Latin American 2 Sub 610 C=0.180 G=0.820
South Asian Sub 98 C=0.14 G=0.86
Other Sub 692 C=0.273 G=0.727


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").

Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 C=0.249794 G=0.750206
gnomAD - Genomes Global Study-wide 139914 C=0.290507 G=0.709493
gnomAD - Genomes European Sub 75748 C=0.43779 G=0.56221
gnomAD - Genomes African Sub 41926 C=0.07501 G=0.92499
gnomAD - Genomes American Sub 13636 C=0.21363 G=0.78637
gnomAD - Genomes Ashkenazi Jewish Sub 3324 C=0.2629 G=0.7371
gnomAD - Genomes East Asian Sub 3130 C=0.0010 G=0.9990
gnomAD - Genomes Other Sub 2150 C=0.2553 G=0.7447
The PAGE Study Global Study-wide 78700 C=0.12649 G=0.87351
The PAGE Study AfricanAmerican Sub 32514 C=0.08252 G=0.91748
The PAGE Study Mexican Sub 10810 C=0.15393 G=0.84607
The PAGE Study Asian Sub 8318 C=0.0024 G=0.9976
The PAGE Study PuertoRican Sub 7918 C=0.2220 G=0.7780
The PAGE Study NativeHawaiian Sub 4534 C=0.1670 G=0.8330
The PAGE Study Cuban Sub 4230 C=0.2771 G=0.7229
The PAGE Study Dominican Sub 3828 C=0.1928 G=0.8072
The PAGE Study CentralAmerican Sub 2450 C=0.1367 G=0.8633
The PAGE Study SouthAmerican Sub 1982 C=0.1660 G=0.8340
The PAGE Study NativeAmerican Sub 1260 C=0.2810 G=0.7190
The PAGE Study SouthAsian Sub 856 C=0.169 G=0.831
8.3KJPN JAPANESE Study-wide 16758 C=0.00006 G=0.99994
1000Genomes Global Study-wide 5008 C=0.1412 G=0.8588
1000Genomes African Sub 1322 C=0.0182 G=0.9818
1000Genomes East Asian Sub 1008 C=0.0010 G=0.9990
1000Genomes Europe Sub 1006 C=0.4155 G=0.5845
1000Genomes South Asian Sub 978 C=0.139 G=0.861
1000Genomes American Sub 694 C=0.184 G=0.816
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.5067 G=0.4933
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.4263 G=0.5737
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.4218 G=0.5782
KOREAN population from KRGDB KOREAN Study-wide 2930 C=0.0020 G=0.9980, T=0.0000
Korean Genome Project KOREAN Study-wide 1832 C=0.0027 G=0.9973
HapMap Global Study-wide 1442 C=0.1699 G=0.8301
HapMap American Sub 770 C=0.219 G=0.781
HapMap African Sub 406 C=0.034 G=0.966
HapMap Europe Sub 176 C=0.352 G=0.648
HapMap Asian Sub 90 C=0.00 G=1.00
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.418 G=0.582
CNV burdens in cranial meningiomas Global Study-wide 792 C=0.010 G=0.990
CNV burdens in cranial meningiomas CRM Sub 792 C=0.010 G=0.990
Northern Sweden ACPOP Study-wide 600 C=0.487 G=0.513
SGDP_PRJ Global Study-wide 536 C=0.099 G=0.901
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 C=0.912 G=0.088
Qatari Global Study-wide 216 C=0.139 G=0.861
A Vietnamese Genetic Variation Database Global Study-wide 214 C=0.009 G=0.991
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 86 C=0.30 G=0.70
Siberian Global Study-wide 46 C=0.26 G=0.74
The Danish reference pan genome Danish Study-wide 40 C=0.47 G=0.53

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.p13 chr 7 NC_000007.14:g.22727026= NC_000007.14:g.22727026C>G NC_000007.14:g.22727026C>T
GRCh37.p13 chr 7 NC_000007.13:g.22766645= NC_000007.13:g.22766645C>G NC_000007.13:g.22766645C>T
IL6 RefSeqGene NG_011640.1:g.4880= NG_011640.1:g.4880C>G NG_011640.1:g.4880C>T
IL6 transcript variant X2 XM_011515390.2:c.-84-153= XM_011515390.2:c.-84-153C>G XM_011515390.2:c.-84-153C>T

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#.

99 SubSNP, 22 Frequency, 6 ClinVar submissions
No Submitter Submission ID Date (Build)
1 HGBASE ss2420932 Nov 14, 2000 (89)
2 PGA-UW-FHCRC ss2981983 Jun 15, 2001 (96)
3 SC_JCM ss4172747 Nov 05, 2001 (101)
4 SNP500CANCER ss5586699 Mar 31, 2003 (113)
5 BCM_SSAHASNP ss10363811 Jul 11, 2003 (116)
6 WI_SSAHASNP ss11855740 Jul 11, 2003 (116)
7 CUORCGL ss12568616 Aug 26, 2003 (117)
8 BAMEZAI ss23133248 Apr 05, 2004 (121)
9 PERLEGEN ss24395511 Sep 20, 2004 (123)
10 ABI ss43055274 Mar 14, 2006 (126)
11 STEJUSTINE-REGGEN ss51854015 Mar 16, 2006 (126)
12 AFFY ss66508299 Dec 02, 2006 (127)
13 SHGC ss66538732 Dec 02, 2006 (127)
14 PERLEGEN ss69009055 May 18, 2007 (127)
15 SHGC ss71640535 May 18, 2007 (127)
16 AFFY ss76331262 Dec 08, 2007 (130)
17 CGM_KYOTO ss76865447 Dec 06, 2007 (129)
18 KRIBB_YJKIM ss81586963 Dec 15, 2007 (130)
19 BCMHGSC_JDW ss93643695 Mar 24, 2008 (129)
20 HUMANGENOME_JCVI ss98237743 Feb 06, 2009 (130)
21 BGI ss105505344 Feb 06, 2009 (130)
22 1000GENOMES ss113453165 Jan 25, 2009 (130)
23 ILLUMINA-UK ss115979845 Feb 14, 2009 (130)
24 ENSEMBL ss142744910 Dec 01, 2009 (131)
25 COMPLETE_GENOMICS ss162125947 Jul 04, 2010 (132)
26 COMPLETE_GENOMICS ss163814637 Jul 04, 2010 (132)
27 ILLUMINA ss172925078 Jul 04, 2010 (132)
28 AFFY ss173286478 Jul 04, 2010 (132)
29 PAGE_STUDY ss181834218 Jul 04, 2010 (132)
30 PAGE_STUDY ss181836019 Jul 04, 2010 (132)
31 BUSHMAN ss203067984 Jul 04, 2010 (132)
32 BCM-HGSC-SUB ss208027188 Jul 04, 2010 (132)
33 1000GENOMES ss233887527 Jul 15, 2010 (132)
34 1000GENOMES ss240860634 Jul 15, 2010 (132)
35 ILLUMINA ss244285077 Jul 04, 2010 (132)
36 BL ss254114394 May 09, 2011 (134)
37 GMI ss279222411 May 04, 2012 (137)
38 GMI ss285589731 Apr 25, 2013 (138)
39 PJP ss294029171 May 09, 2011 (134)
40 ILLUMINA ss536992371 Sep 08, 2015 (146)
41 TISHKOFF ss559864906 Apr 25, 2013 (138)
42 SSMP ss654217099 Apr 25, 2013 (138)
43 EVA-GONL ss984046046 Aug 21, 2014 (142)
44 JMKIDD_LAB ss1074437909 Aug 21, 2014 (142)
45 1000GENOMES ss1324281778 Aug 21, 2014 (142)
46 DDI ss1431056492 Apr 01, 2015 (144)
47 EVA_GENOME_DK ss1582109401 Apr 01, 2015 (144)
48 EVA_DECODE ss1593614372 Apr 01, 2015 (144)
49 EVA_UK10K_ALSPAC ss1617759569 Apr 01, 2015 (144)
50 EVA_UK10K_TWINSUK ss1660753602 Apr 01, 2015 (144)
51 EVA_MGP ss1711157245 Apr 01, 2015 (144)
52 EVA_SVP ss1712938553 Apr 01, 2015 (144)
53 HAMMER_LAB ss1804909504 Sep 08, 2015 (146)
54 WEILL_CORNELL_DGM ss1927291920 Feb 12, 2016 (147)
55 ILLUMINA ss1958995071 Feb 12, 2016 (147)
56 GENOMED ss1970647495 Jul 19, 2016 (147)
57 JJLAB ss2024322094 Sep 14, 2016 (149)
58 ILLUMINA ss2094830669 Dec 20, 2016 (150)
59 USC_VALOUEV ss2152517929 Dec 20, 2016 (150)
60 HUMAN_LONGEVITY ss2292393118 Dec 20, 2016 (150)
61 TOPMED ss2461247577 Dec 20, 2016 (150)
62 SYSTEMSBIOZJU ss2626649999 Nov 08, 2017 (151)
63 ILLUMINA ss2634579061 Nov 08, 2017 (151)
64 ILLUMINA ss2635169779 Nov 08, 2017 (151)
65 GRF ss2708173894 Nov 08, 2017 (151)
66 ILLUMINA ss2711105482 Nov 08, 2017 (151)
67 GNOMAD ss2850742984 Nov 08, 2017 (151)
68 AFFY ss2985401819 Nov 08, 2017 (151)
69 AFFY ss2986033530 Nov 08, 2017 (151)
70 SWEGEN ss3000767390 Nov 08, 2017 (151)
71 ILLUMINA ss3022716488 Nov 08, 2017 (151)
72 BIOINF_KMB_FNS_UNIBA ss3025955109 Nov 08, 2017 (151)
73 CSHL ss3347480048 Nov 08, 2017 (151)
74 TOPMED ss3524748571 Nov 08, 2017 (151)
75 ILLUMINA ss3625923910 Oct 12, 2018 (152)
76 ILLUMINA ss3629770853 Oct 12, 2018 (152)
77 ILLUMINA ss3638685379 Oct 12, 2018 (152)
78 URBANLAB ss3648582132 Oct 12, 2018 (152)
79 ILLUMINA ss3653244565 Oct 12, 2018 (152)
80 ILLUMINA ss3654162330 Oct 12, 2018 (152)
81 EGCUT_WGS ss3668695830 Jul 13, 2019 (153)
82 EVA_DECODE ss3719272057 Jul 13, 2019 (153)
83 ILLUMINA ss3726427897 Jul 13, 2019 (153)
84 ACPOP ss3734436830 Jul 13, 2019 (153)
85 EVA ss3766296272 Jul 13, 2019 (153)
86 PAGE_CC ss3771357242 Jul 13, 2019 (153)
87 PACBIO ss3785756366 Jul 13, 2019 (153)
88 PACBIO ss3791067540 Jul 13, 2019 (153)
89 PACBIO ss3795947297 Jul 13, 2019 (153)
90 KHV_HUMAN_GENOMES ss3809463493 Jul 13, 2019 (153)
91 EVA ss3830461628 Apr 26, 2020 (154)
92 SGDP_PRJ ss3866817605 Apr 26, 2020 (154)
93 KRGDB ss3913852081 Apr 26, 2020 (154)
94 KOGIC ss3961044795 Apr 26, 2020 (154)
95 EVA ss3984584889 Apr 26, 2021 (155)
96 EVA ss3985282788 Apr 26, 2021 (155)
97 EVA ss4017325184 Apr 26, 2021 (155)
98 TOPMED ss4738618529 Apr 26, 2021 (155)
99 TOMMO_GENOMICS ss5182194327 Apr 26, 2021 (155)
100 1000Genomes NC_000007.13 - 22766645 Oct 12, 2018 (152)
101 The Avon Longitudinal Study of Parents and Children NC_000007.13 - 22766645 Oct 12, 2018 (152)
102 Genetic variation in the Estonian population NC_000007.13 - 22766645 Oct 12, 2018 (152)
103 The Danish reference pan genome NC_000007.13 - 22766645 Apr 26, 2020 (154)
104 gnomAD - Genomes NC_000007.14 - 22727026 Apr 26, 2021 (155)
105 Genome of the Netherlands Release 5 NC_000007.13 - 22766645 Apr 26, 2020 (154)
106 HapMap NC_000007.14 - 22727026 Apr 26, 2020 (154)
107 KOREAN population from KRGDB NC_000007.13 - 22766645 Apr 26, 2020 (154)
108 Korean Genome Project NC_000007.14 - 22727026 Apr 26, 2020 (154)
109 Medical Genome Project healthy controls from Spanish population NC_000007.13 - 22766645 Apr 26, 2020 (154)
110 Northern Sweden NC_000007.13 - 22766645 Jul 13, 2019 (153)
111 The PAGE Study NC_000007.14 - 22727026 Jul 13, 2019 (153)
112 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000007.13 - 22766645 Apr 26, 2021 (155)
113 CNV burdens in cranial meningiomas NC_000007.13 - 22766645 Apr 26, 2021 (155)
114 Qatari NC_000007.13 - 22766645 Apr 26, 2020 (154)
115 SGDP_PRJ NC_000007.13 - 22766645 Apr 26, 2020 (154)
116 Siberian NC_000007.13 - 22766645 Apr 26, 2020 (154)
117 8.3KJPN NC_000007.13 - 22766645 Apr 26, 2021 (155)
118 TopMed NC_000007.14 - 22727026 Apr 26, 2021 (155)
119 UK 10K study - Twins NC_000007.13 - 22766645 Oct 12, 2018 (152)
120 A Vietnamese Genetic Variation Database NC_000007.13 - 22766645 Jul 13, 2019 (153)
121 ALFA NC_000007.14 - 22727026 Apr 26, 2021 (155)
122 ClinVar RCV000015833.3 Apr 26, 2021 (155)
123 ClinVar RCV000015834.3 Apr 26, 2021 (155)
124 ClinVar RCV000015837.3 Apr 26, 2021 (155)
125 ClinVar RCV000015838.3 Apr 26, 2021 (155)
126 ClinVar RCV001281345.1 Apr 26, 2021 (155)
127 ClinVar RCV001281346.1 Apr 26, 2021 (155)

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)
rs17777058 Oct 08, 2004 (123)
rs36215460 Oct 25, 2006 (127)
rs56588968 May 25, 2008 (130)
rs58302852 Feb 27, 2009 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss66508299, ss76331262, ss93643695, ss113453165, ss115979845, ss162125947, ss163814637, ss173286478, ss203067984, ss208027188, ss244285077, ss254114394, ss279222411, ss285589731, ss294029171, ss1593614372, ss1712938553, ss2635169779 NC_000007.12:22733169:C:G NC_000007.14:22727025:C:G (self)
36221634, 20191943, 14434078, 8274340, 9002185, 21029475, 273005, 7721695, 508715, 134309, 9333850, 18834585, 5034283, 40163634, 20191943, 4498853, ss233887527, ss240860634, ss536992371, ss559864906, ss654217099, ss984046046, ss1074437909, ss1324281778, ss1431056492, ss1582109401, ss1617759569, ss1660753602, ss1711157245, ss1804909504, ss1927291920, ss1958995071, ss1970647495, ss2024322094, ss2094830669, ss2152517929, ss2461247577, ss2626649999, ss2634579061, ss2708173894, ss2711105482, ss2850742984, ss2985401819, ss2986033530, ss3000767390, ss3022716488, ss3347480048, ss3625923910, ss3629770853, ss3638685379, ss3653244565, ss3654162330, ss3668695830, ss3734436830, ss3766296272, ss3785756366, ss3791067540, ss3795947297, ss3830461628, ss3866817605, ss3913852081, ss3984584889, ss3985282788, ss4017325184, ss5182194327 NC_000007.13:22766644:C:G NC_000007.14:22727025:C:G (self)
RCV000015833.3, RCV000015834.3, RCV000015837.3, RCV000015838.3, RCV001281345.1, RCV001281346.1, 255401878, 3355415, 17422796, 578711, 360318153, 575996088, 6265439531, ss2292393118, ss3025955109, ss3524748571, ss3648582132, ss3719272057, ss3726427897, ss3771357242, ss3809463493, ss3961044795, ss4738618529 NC_000007.14:22727025:C:G NC_000007.14:22727025:C:G (self)
ss10363811, ss11855740 NT_007819.13:22060252:C:G NC_000007.14:22727025:C:G (self)
ss2420932, ss2981983, ss4172747, ss5586699, ss12568616, ss23133248, ss24395511, ss43055274, ss51854015, ss66538732, ss69009055, ss71640535, ss76865447, ss81586963, ss98237743, ss105505344, ss142744910, ss172925078, ss181834218, ss181836019 NT_007819.17:22756644:C:G NC_000007.14:22727025:C:G (self)
21029475, ss3913852081 NC_000007.13:22766644:C:T NC_000007.14:22727025:C:T (self)

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

530 citations for rs1800795
PMID Title Author Year Journal
15113403 Current limitations of SNP data from the public domain for studies of complex disorders: a test for ten candidate genes for obesity and osteoporosis. Dvornyk V et al. 2004 BMC genetics
15726497 Gene-environment interaction effects on the development of immune responses in the 1st year of life. Hoffjan S et al. 2005 American journal of human genetics
15820616 IL-6 gene variation is not associated with increased serum levels of IL-6, muscle, weakness, or frailty in older women. Walston J et al. 2005 Experimental gerontology
16046815 Data-mining analysis suggests an epigenetic pathogenesis for type 2 diabetes. Wren JD et al. 2005 Journal of biomedicine & biotechnology
16449530 Cytokine polymorphisms in the Th1/Th2 pathway and susceptibility to non-Hodgkin lymphoma. Lan Q et al. 2006 Blood
16544245 Host immunogenetics and control of human herpesvirus-8 infection. Brown EE et al. 2006 The Journal of infectious diseases
16617143 Algorithm for automatic genotype calling of single nucleotide polymorphisms using the full course of TaqMan real-time data. Callegaro A et al. 2006 Nucleic acids research
16644865 Genetic variation in IL6 gene and type 2 diabetes: tagging-SNP haplotype analysis in large-scale case-control study and meta-analysis. Qi L et al. 2006 Human molecular genetics
16759385 Cytokine gene polymorphisms and atopic disease in two European cohorts. (ECRHS-Basel and SAPALDIA). Imboden M et al. 2006 Clinical and molecular allergy
16820586 Inflammatory gene polymorphisms and risk of postoperative myocardial infarction after cardiac surgery. Podgoreanu MV et al. 2006 Circulation
16842617 Interleukin gene polymorphisms and breast cancer: a case control study and systematic literature review. Balasubramanian SP et al. 2006 BMC cancer
16846490 Lemierre's syndrome and genetic polymorphisms: a case report. Constantin JM et al. 2006 BMC infectious diseases
17003362 IL6 gene promoter polymorphisms and type 2 diabetes: joint analysis of individual participants' data from 21 studies. Huth C et al. 2006 Diabetes
17327408 Prognostic significance of host immune gene polymorphisms in follicular lymphoma survival. Cerhan JR et al. 2007 Blood
17416766 IL6, aspirin, nonsteroidal anti-inflammatory drugs, and breast cancer risk in women living in the southwestern United States. Slattery ML et al. 2007 Cancer epidemiology, biomarkers & prevention
17594514 Active and passive smoking, IL6, ESR1, and breast cancer risk. Slattery ML et al. 2008 Breast cancer research and treatment
17623760 Interleukin-6 genetic variability and adiposity: associations in two prospective cohorts and systematic review in 26,944 individuals. Qi L et al. 2007 The Journal of clinical endocrinology and metabolism
17665434 Association of interleukin-6 and interleukin-10 genotypes with radiographic damage in rheumatoid arthritis is dependent on autoantibody status. Marinou I et al. 2007 Arthritis and rheumatism
17694420 IL6 genotypes and colon and rectal cancer. Slattery ML et al. 2007 Cancer causes & control
17705862 Optimization of candidate-gene SNP-genotyping by flexible oligonucleotide microarrays; analyzing variations in immune regulator genes of hay-fever samples. Pullat J et al. 2007 BMC genomics
17847004 Common variants in the BMP2, BMP4, and HJV genes of the hepcidin regulation pathway modulate HFE hemochromatosis penetrance. Milet J et al. 2007 American journal of human genetics
17903293 Genome-wide association with select biomarker traits in the Framingham Heart Study. Benjamin EJ et al. 2007 BMC medical genetics
17916900 Single-nucleotide polymorphisms in selected cytokine genes and risk of adult glioma. Brenner AV et al. 2007 Carcinogenesis
17996468 Polymorphisms of the interleukin-6 gene promoter and abdominal aortic aneurysm. Smallwood L et al. 2008 European journal of vascular and endovascular surgery
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27376129 Independent Replication of Published Germline Polymorphisms Associated with Urinary Bladder Cancer Prognosis and Treatment Response. Grotenhuis AJ et al. 2016 Bladder cancer (Amsterdam, Netherlands)
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30525242 Lack of Association between IL-6 Polymorphisms and Haplotypes with Gastric Cancer. Dos Santos MP et al. 2019 Journal of cellular biochemistry
30584432 Genetic Identification for Non-Communicable Disease: Findings from 20 Years of the Tehran Lipid and Glucose Study. Daneshpour MS et al. 2018 International journal of endocrinology and metabolism
30635366 Association of IL-6, IL-8, MMP-13 gene polymorphisms with knee osteoarthritis susceptibility in the Chinese Han population. Sun G et al. 2019 Bioscience reports
30652031 The Single Nucleotide Polymorphism <i>PPARG2</i> Pro12Ala Affects Body Mass Index, Fat Mass, and Blood Pressure in Severely Obese Patients. Rodrigues APDS et al. 2018 Journal of obesity
30662970 <i>IL6/IL6R</i> genetic diversity and plasma IL6 levels in bipolar disorder: An Indo-French study. Sundaresh A et al. 2019 Heliyon
30711878 Genetic differences between primary progressive and relapsing-remitting multiple sclerosis: The impact of immune-related genes variability. Kiselev I et al. 2019 Multiple sclerosis and related disorders
30787661 Are <i>IL1B, IL6</i> and <i>IL6R</i> Gene Variants Associated with Anterior Cruciate Ligament Rupture Susceptibility? Lulińska-Kuklik E et al. 2019 Journal of sports science & medicine
30813952 Genetic variability of inflammation and oxidative stress genes does not play a major role in the occurrence of adverse events of dopaminergic treatment in Parkinson's disease. Redenšek S et al. 2019 Journal of neuroinflammation
30826601 Association between chronic obstructive pulmonary disease and interleukins gene variants: A systematic review and meta-analysis. Ahmadi A et al. 2019 Cytokine
30893922 Interleukin-3 Polymorphism is Associated with Miscarriage of Fresh in Vitro Fertilization Cycles. Wu CH et al. 2019 International journal of environmental research and public health
30943147 IL-6 and TGF-β gene polymorphisms, their serum levels, as well as HLA profile, in patients with systemic lupus erythematosus. Paradowska-Gorycka A et al. 2019 Clinical and experimental rheumatology
30959967 Genetic Susceptibility in Head and Neck Squamous Cell Carcinoma in a Spanish Population. Fernández-Mateos J et al. 2019 Cancers
30967802 Understanding the Relation Between Early-Life Adversity and Depression Symptoms: The Moderating Role of Sex and an Interleukin-1β Gene Variant. McQuaid RJ et al. 2019 Frontiers in psychiatry
31023072 Symptom Science: Advocating for Inclusion of Functional Genetic Polymorphisms. Knisely MR et al. 2019 Biological research for nursing
31082334 [Correlation between interleukin-6 single nucleotide polymorphism and the occurrence and prognosis of hepatitis B virus-associated acute-on-chronic liver failure]. Lin YH et al. 2019 Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology
31132388 Investigating the Contribution of NPSR1, IL-6 and BDNF Polymorphisms to Depressive and Anxiety Symptoms in Hemodialysis Patients. Alshogran OY et al. 2019 Progress in neuro-psychopharmacology & biological psychiatry
31199170 Does <i>CETP</i> rs5882, rs708272, <i>SIRT1</i> rs12778366, <i>FGFR2 rs2981582, STAT3</i> rs744166, <i>VEGFA</i> rs833068, <i>IL6</i> rs1800795 polymorphisms play a role in optic neuritis development? Gedvilaite G et al. 2019 Ophthalmic genetics
31231424 Genetic and Epigenetic Studies in Diabetic Kidney Disease. Gu HF et al. 2019 Frontiers in genetics
31270294 Polymorphisms in interleukin genes and their association with the risk of recurrent pregnancy loss. Wang T et al. 2019 Genes & genetic systems
31291232 The Association of Catechol-O-Methyl-Transferase and Interleukin 6 Gene Polymorphisms with Posttraumatic Stress Disorder. Haxhibeqiri V et al. 2019 Psychiatria Danubina
31295854 The Effect of Habitual Fat Intake, IL6 Polymorphism, and Different Diet Strategies on Inflammation in Postmenopausal Women with Central Obesity. Chmurzynska A et al. 2019 Nutrients
31301734 Impact of interleukin-6 gene polymorphisms and its interaction with obesity on osteoporosis risk in Chinese postmenopausal women. Ji YF et al. 2019 Environmental health and preventive medicine
31338006 Interleukin 6 (rs1800795) gene polymorphism is associated with cardiovascular diseases: a meta-analysis of 74 studies with 86,229 subjects. González-Castro TB et al. 2019 EXCLI journal
31342143 STAT3 polymorphisms and IL-6 polymorphism are associated with the risk of basal cell carcinoma in patients from northern Poland. Sławińska M et al. 2019 Archives of dermatological research
31342641 Single-nucleotide polymorphisms associated with pemphigus vulgaris: Potent markers for better treatment and personalized medicine. Mahmoudi H et al. 2020 International journal of immunogenetics
31343553 A Genome-Wide Association Study of Sprint Performance in Elite Youth Football Players. Pickering C et al. 2019 Journal of strength and conditioning research
31350695 Year-Long Rhinovirus Infection is Influenced by Atmospheric Conditions, Outdoor Air Virus Presence, and Immune System-Related Genetic Polymorphisms. Rodrigues AF et al. 2019 Food and environmental virology
31366164 Cytokine Expression Patterns and Single Nucleotide Polymorphisms (SNPs) in Patients with Chronic Borreliosis. Hein TM et al. 2019 Antibiotics (Basel, Switzerland)
31373163 Cytokine rs361525, rs1800750, rs1800629, rs1800896, rs1800872, rs1800795, rs1800470, and rs2430561 SNPs in relation with prognostic factors in acute myeloid leukemia. Bănescu C et al. 2019 Cancer medicine
31395468 Functional polymorphisms within the inflammatory pathway regulate expression of extracellular matrix components in a genetic risk dependent model for anterior cruciate ligament injuries. Suijkerbuijk MAM et al. 2019 Journal of science and medicine in sport
31446341 A meta-analysis on associations of IL-6 and IL-10 polymorphisms with susceptibility to ischemic stroke. Chen M et al. 2019 Journal of neuroimmunology
31451183 Association Between IL-6 Polymorphisms and Diabetic Nephropathy Risk: A Meta-analysis. Chen B et al. 2019 The American journal of the medical sciences
31472475 Association of interleukin-6 polymorphisms with obesity: A systematic review and meta-analysis. Gholami M et al. 2019 Cytokine
31494241 Are key cytokines genetic and serum levels variations related to rheumatoid arthritis clinical severity? de Lima CAD et al. 2020 Gene
31560754 Associations of six common functional polymorphisms in interleukins with tuberculosis: evidence from a meta-analysis. Yu Z et al. 2019 Pathogens and disease
31572980 Prognostic factors in the progression of intervertebral disc degeneration: Which patient should be targeted with regenerative therapies? Rustenburg CME et al. 2019 JOR spine
31615448 Candidate single nucleotide polymorphisms of irritable bowel syndrome: a systemic review and meta-analysis. Zhu S et al. 2019 BMC gastroenterology
31618972 Polymorphisms of Proinflammatory Cytokines in Relation to APOE Epsilon 4 and Risk of Alzheimer's Disease in the Lithuanian Population. Pšemeneckienė G et al. 2019 Medicina (Kaunas, Lithuania)
31669382 Associations of polymorphisms in interleukins with tuberculosis: Evidence from a meta-analysis. Chen J et al. 2020 Immunology letters
31676365 Associations of polymorphisms in IL-6 and IL-18 with tuberculosis: Evidence from a meta-analysis. He C et al. 2020 Microbial pathogenesis
31852161 Interleukin-6 gene polymorphisms and susceptibility to liver diseases: A meta-analysis. Wang X et al. 2019 Medicine
31874191 Haplotype analysis on association between variants of interleukin 6 (IL-6) and late-onset Alzheimer's disease in a Chinese Han population. Zhao J et al. 2020 Experimental gerontology
31886296 Impact of SNPs/Haplotypes of <i>IL10</i> and <i>IFNG</i> on the Development of Diffuse Large B-Cell Lymphoma. Marangon AV et al. 2019 Journal of immunology research
31929778 Association between Hepatitis C Virus Viremia and the rs12979860, rs2228145 and rs1800795 SNP (CT/AC/GG) Genotype in Saudi Kidney Transplant Recipients. Alkharsah KR et al. 2020 Saudi journal of medicine & medical sciences
31936215 Modelling the Effects of MCM7 Variants, Somatic Mutations, and Clinical Features on Acute Myeloid Leukemia Susceptibility and Prognosis. Tripon F et al. 2020 Journal of clinical medicine
31949739 Association between the rs1800795G&gt;C polymorphism in the promoter of interleukin-6 gene and bladder cancer. Chiang YT et al. 2018 International journal of clinical and experimental pathology
31951965 Promoter polymorphisms in IL-6 gene influence pro-inflammatory cytokines for the risk of osteoarthritis. Singh M et al. 2020 Cytokine
32001929 Differential impact of interleukin-6 promoter gene polymorphism on hippocampal volume in antipsychotic-naïve schizophrenia patients. Shivakumar V et al. 2020 Indian journal of psychiatry
32046104 The Impact of IL-6 and IL-10 Gene Polymorphisms in Diffuse Large B-Cell Lymphoma Risk and Overall Survival in an Arab Population: A Case-Control Study. Al-Khatib SM et al. 2020 Cancers
32070384 Gene polymorphisms and expression levels of interleukin-6 and interleukin-10 in lumbar disc disease: a meta-analysis and immunohistochemical study. Guan Y et al. 2020 Journal of orthopaedic surgery and research
32077194 Certain interleukin polymorphisms might influence predisposition to lung cancer: A meta-analysis of 35 published studies. Gao J et al. 2020 IUBMB life
32083395 Genetic variants in rheumatic fever and rheumatic heart disease. Muhamed B et al. 2020 American journal of medical genetics. Part C, Seminars in medical genetics
32123442 Association of the IL-6 -174G &gt; C (rs1800795) Polymorphism with Adolescent Idiopathic Scoliosis: Evidence from a Case-Control Study and Meta-Analysis. Sobhan MR et al. 2020 Revista brasileira de ortopedia
32124188 Infectious mononucleosis, immune genotypes, and non-Hodgkin lymphoma (NHL): an InterLymph Consortium study. Wadé NB et al. 2020 Cancer causes & control
32141789 Genetic Association Analyses Highlight <i>IL6</i>, <i>ALPL</i>, and <i>NAV1</i> As 3 New Susceptibility Genes Underlying Calcific Aortic Valve Stenosis. Thériault S et al. 2019 Circulation. Genomic and precision medicine
32162036 Genetic polymorphisms and multiple myeloma risk: a meta-analysis. Zhang P et al. 2020 Annals of hematology
32270859 The association between Interleukin-6 rs1800795/rs1800797 polymorphisms and risk of rotator cuff tear in a Chinese population. Li J et al. 2020 Bioscience reports
32281460 Association between diabetic retinopathy and interleukin-related gene polymorphisms: a machine learning aided meta-analysis. Sun X et al. 2020 Ophthalmic genetics
32330537 Associations of IL6 rs1800795, BLK rs13277113, TIMP3 rs9621532, IL1RL1 rs1041973 and IL1RAP rs4624606 single gene polymorphisms with laryngeal squamous cell carcinoma. Pasvenskaite A et al. 2020 Gene
32372374 Association between HER2 and IL-6 genes polymorphisms and clinicopathological characteristics of breast cancer: significant role of genetic variability in specific breast cancer subtype. Bouhniz OE et al. 2020 Clinical and experimental medicine
32374489 The IL-6 rs1800795 and rs1800796 polymorphisms are associated with coronary artery disease risk. Lu S et al. 2020 Journal of cellular and molecular medicine
32390362 Polymorphisms of Inflammatory Cytokine Genes and Risk for Intracranial Aneurysm: A Systematic Review and Meta-Analysis. Hu L et al. 2020 Yonsei medical journal
32390629 IL-1β, IL-6, IL-10, and TNFα Single Nucleotide Polymorphisms in Human Influence the Susceptibility to Alzheimer's Disease Pathology. Babić Leko M et al. 2020 Journal of Alzheimer's disease
32391092 Association of angiogenesis and inflammation-related gene functional polymorphisms with early-stage breast cancer prognosis. Korobeinikova E et al. 2020 Oncology letters
32408055 Regulation of interleukin 6 by a polymorphic CpG within the frontal cortex in Alzheimer's disease. Sawkulycz X et al. 2020 Neurobiology of aging
32432788 Effects of gene polymorphism and serum levels of IL-2 and IL-6 on endometriosis. Wang XQ et al. 2020 European review for medical and pharmacological sciences
32449403 Associations between IL1RAP rs4624606, IL1RL1 rs1041973, IL-6 rs1800795, and HTRA1 rs11200638 gene polymorphisms and development of optic neuritis with or without multiple sclerosis. Stonys V et al. 2020 Ophthalmic genetics
32451802 Single-nucleotide polymorphisms influence the promoter activities of systemic lupus erythematosus-associated genes. Qiu J et al. 2020 Biotechnology letters
32454789 Associations between Interleukin Gene Polymorphisms and Risks of Developing Extremity Posttraumatic Osteomyelitis in Chinese Han Population. Jiang N et al. 2020 Mediators of inflammation
32458622 Association of IL-12B rs3212227 and IL-6 rs1800795 Polymorphisms with Susceptibility to Cervical Cancer: A Systematic Review and Meta-Analysis. Karimi-Zarchi M et al. 2020 Asian Pacific journal of cancer prevention
32466786 Association of IL-6 174G/C (rs1800795) and 572C/G (rs1800796) polymorphisms with risk of osteoporosis: a meta-analysis. Chen B et al. 2020 BMC musculoskeletal disorders
32474766 Gene polymorphisms of pro-inflammatory cytokines may affect the risk of Graves' disease: a meta-analysis. Zhu P et al. 2021 Journal of endocrinological investigation
32476966 Association between rs1800795 polymorphisms in the interleukin-6 gene and vasculitis: A meta-analysis. Jung JH et al. 2019 Sarcoidosis, vasculitis, and diffuse lung diseases
32492396 Lack of Association of IL6 polymorphism with the susceptibility to Chagas disease in Latin American populations. Strauss M et al. 2020 Acta tropica
32519679 Associations between IL-6 Variations and Congenital Heart Disease Incidence among Chinese Han People. Zhang Q et al. 2020 Medical science monitor
32543936 Impact of IL-17F 7488T/C Functional Polymorphism on Progressive Rheumatoid Arthritis: Novel Insight from the Molecular Dynamic Simulations. Nisar H et al. 2021 Immunological investigations
32602796 Association of Polymorphisms in Cytokine genes with susceptibility to Precancerous Lesions and Cervical Cancer: A systematic review with meta-analysis. de Moura EL et al. 2021 Immunological investigations
32628041 Association of interleukin-6 gene polymorphisms and glaucoma: Systematic review and meta-analysis. Wu CL et al. 2021 European journal of ophthalmology
32643487 Genetic polymorphisms in <i>interleukin-6</i> and <i>interleukin-1-beta</i> were associated with dental caries and gingivitis. Reis CLB et al. 2021 Acta odontologica Scandinavica
32648256 Genetic polymorphisms in the Interleukins IL1B, IL4, and IL6 are associated with concomitant periodontitis and type 2 diabetes mellitus in Brazilian patients. Cirelli T et al. 2020 Journal of periodontal research
32652594 Genetic variants in IL4RA, IL6, and IL12B genes and susceptibility to hepatitis B and C virus infections among Iraqi patients. Al-Saffar OB et al. 2020 Journal of medical virology
32666334 Depression, temporomandibular disorders, and genetic polymorphisms in IL6 impact on oral health-related quality of life in patients requiring orthognathic surgery. Sebastiani AM et al. 2020 Quality of life research
32685106 Interleukin-6-174G/C polymorphism is associated with a decreased risk of type 2 diabetes in patients with chronic hepatitis C virus. da Silva CB et al. 2020 World journal of hepatology
32710539 Clinical and Clinical-Pharmacogenetic Models for Prediction of the Most Common Psychiatric Complications Due to Dopaminergic Treatment in Parkinson's Disease. Redenšek S et al. 2020 The international journal of neuropsychopharmacology
32719924 Systematic review and meta-analysis of association of polymorphisms in inflammatory cytokine genes with coronary artery disease. Tabaei S et al. 2020 Inflammation research
32847380 Associations between Gene Polymorphisms in Pro-inflammatory Cytokines and the Risk of Inflammatory Bowel Disease: A Meta-analysis. Liu W et al. 2021 Immunological investigations
32957410 Association of cytokine gene polymorphisms with chronic hepatitis C virus genotype 1b infection in Chinese Han population: An observational study. Jing JS et al. 2020 Medicine
32963590 Whether the risk of gestational diabetes mellitus is affected by <i>TNF-α</i>, <i>IL-6</i>, <i>IL-10</i> or <i>ADIPOQ</i> polymorphisms: a meta-analysis. Huang Q et al. 2020 Diabetology & metabolic syndrome
33016995 The association of interieukin-6 polymorphism (rs1800795) with microvascular complications in Type 2 diabetes mellitus. Cui J et al. 2020 Bioscience reports
33047210 IL6 genetic variants haplotype is associated with susceptibility and disease activity but not with therapy response in patients with inflammatory bowel disease. Gonçalves BP et al. 2021 International journal of colorectal disease
33047635 Association between TH2 Cytokine Gene Polymorphisms and Risk of Bullous Pemphigoid. Tabatabaei-Panah PS et al. 2020 Immunological investigations
33075041 [Polimorfismo de genes de citocinas: ¿factores de riesgo cardiovascular en la población venezolana?] Fernández-Mestre M et al. 2020 Archivos de cardiologia de Mexico
33138337 Genetic Variability in Antioxidative and Inflammatory Pathways Modifies the Risk for PCOS and Influences Metabolic Profile of the Syndrome. Herman R et al. 2020 Metabolites
33193300 A Specific <i>IL6</i> Polymorphic Genotype Modulates the Risk of <i>Trypanosoma cruzi</i> Parasitemia While <i>IL18</i>, <i>IL17A</i>, and <i>IL1B</i> Variant Profiles and HIV Infection Protect Against Cardiomyopathy in Chagas Disease. Gomes Dos Santos A et al. 2020 Frontiers in immunology
33223448 Polymorphisms in the interleukin genes and chronic periodontitis: A field synopsis and revaluation by Bayesian approaches. da Silva FRP et al. 2021 Cytokine
33262486 Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: e-Posters. 2020 European journal of human genetics
33359288 Polymorphisms in the IL-6 and TNF-α gene are associated with an increased risk of abdominal aortic aneurysm. Jabłońska A et al. 2021 International journal of cardiology
33492571 Association of xenobiotic-metabolizing enzymes (GSTM1 and GSTT 1), and pro-inflammatory cytokines (TNF-α and IL-6) genetic polymorphisms with non-alcoholic fatty liver disease. Damavandi N et al. 2021 Molecular biology reports
33511285 Association between interleukin 6 polymorphisms (rs1800796, rs1800795, rs2069837, rs17147230, and rs1800797) and hepatocellular carcinoma susceptibility: a meta-analysis. Aleagha OE et al. 2020 Clinical and experimental hepatology
33522443 Risk modelling further implicates the angiogenesis pathway in anterior cruciate ligament ruptures. Rahim M et al. 2021 European journal of sport science
33573284 Association of Genetic Polymorphisms and Serum Levels of IL-6 and IL-8 with the Prognosis in Children with Neuroblastoma. Moreno-Guerrero SS et al. 2021 Cancers
33684135 Statistical meta-analysis to investigate the association between the Interleukin-6 (IL-6) gene polymorphisms and cancer risk. Harun-Or-Roshid M et al. 2021 PloS one
33720087 Pediatric Non-Alcoholic Fatty Liver Disease Is Affected by Genetic Variants Involved in Lifespan/Healthspan. Crudele A et al. 2021 Journal of pediatric gastroenterology and nutrition

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

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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.

Software version is: 2.0.1.post596+ae089ad