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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.

rs2073618

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr8:118951813 (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
G=0.389954 (103217/264690, TOPMED)
G=0.477807 (99509/208262, GnomAD_exome)
G=0.398920 (55899/140126, GnomAD) (+ 23 more)
C=0.495015 (57301/115756, ALFA)
G=0.39759 (26480/66602, ExAC)
G=0.29436 (8318/28258, 14KJPN)
G=0.29636 (4967/16760, 8.3KJPN)
G=0.41108 (5326/12956, GO-ESP)
G=0.3306 (2117/6404, 1000G_30x)
G=0.3333 (1669/5008, 1000G)
C=0.4746 (2126/4480, Estonian)
C=0.4541 (1750/3854, ALSPAC)
C=0.4466 (1656/3708, TWINSUK)
C=0.4285 (1396/3258, PRJNA289433)
G=0.2705 (792/2928, KOREAN)
G=0.2615 (478/1828, Korea1K)
G=0.4532 (513/1132, Daghestan)
G=0.259 (204/788, PRJEB37584)
G=0.244 (150/614, Vietnamese)
C=0.473 (284/600, NorthernSweden)
C=0.307 (164/534, MGP)
G=0.229 (105/458, SGDP_PRJ)
G=0.282 (92/326, HapMap)
G=0.301 (65/216, Qatari)
G=0.27 (13/48, Siberian)
C=0.47 (19/40, GENOME_DK)
Clinical Significance
Reported in ClinVar
Gene : Consequence
TNFRSF11B : Missense Variant
COLEC10 : 2KB Upstream Variant
Publications
71 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 115756 G=0.504985 C=0.495015
European Sub 98032 G=0.53291 C=0.46709
African Sub 4360 G=0.1654 C=0.8346
African Others Sub 174 G=0.040 C=0.960
African American Sub 4186 G=0.1706 C=0.8294
Asian Sub 3286 G=0.2492 C=0.7508
East Asian Sub 2630 G=0.2768 C=0.7232
Other Asian Sub 656 G=0.139 C=0.861
Latin American 1 Sub 790 G=0.337 C=0.663
Latin American 2 Sub 944 G=0.523 C=0.477
South Asian Sub 274 G=0.401 C=0.599
Other Sub 8070 G=0.4713 C=0.5287


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").

Download
Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 G=0.389954 C=0.610046
gnomAD - Exomes Global Study-wide 208262 G=0.477807 C=0.522193
gnomAD - Exomes European Sub 108250 G=0.543769 C=0.456231
gnomAD - Exomes Asian Sub 42188 G=0.36584 C=0.63416
gnomAD - Exomes American Sub 31190 G=0.54675 C=0.45325
gnomAD - Exomes African Sub 12016 G=0.12683 C=0.87317
gnomAD - Exomes Ashkenazi Jewish Sub 9282 G=0.4381 C=0.5619
gnomAD - Exomes Other Sub 5336 G=0.4814 C=0.5186
gnomAD - Genomes Global Study-wide 140126 G=0.398920 C=0.601080
gnomAD - Genomes European Sub 75860 G=0.53727 C=0.46273
gnomAD - Genomes African Sub 42012 G=0.13867 C=0.86133
gnomAD - Genomes American Sub 13652 G=0.45012 C=0.54988
gnomAD - Genomes Ashkenazi Jewish Sub 3324 G=0.4510 C=0.5490
gnomAD - Genomes East Asian Sub 3132 G=0.2513 C=0.7487
gnomAD - Genomes Other Sub 2146 G=0.4124 C=0.5876
Allele Frequency Aggregator Total Global 115756 G=0.504985 C=0.495015
Allele Frequency Aggregator European Sub 98032 G=0.53291 C=0.46709
Allele Frequency Aggregator Other Sub 8070 G=0.4713 C=0.5287
Allele Frequency Aggregator African Sub 4360 G=0.1654 C=0.8346
Allele Frequency Aggregator Asian Sub 3286 G=0.2492 C=0.7508
Allele Frequency Aggregator Latin American 2 Sub 944 G=0.523 C=0.477
Allele Frequency Aggregator Latin American 1 Sub 790 G=0.337 C=0.663
Allele Frequency Aggregator South Asian Sub 274 G=0.401 C=0.599
ExAC Global Study-wide 66602 G=0.39759 C=0.60241
ExAC Europe Sub 37284 G=0.45196 C=0.54804
ExAC Asian Sub 16780 G=0.34911 C=0.65089
ExAC American Sub 6060 G=0.4703 C=0.5297
ExAC African Sub 6006 G=0.1247 C=0.8753
ExAC Other Sub 472 G=0.364 C=0.636
14KJPN JAPANESE Study-wide 28258 G=0.29436 C=0.70564
8.3KJPN JAPANESE Study-wide 16760 G=0.29636 C=0.70364
GO Exome Sequencing Project Global Study-wide 12956 G=0.41108 C=0.58892
GO Exome Sequencing Project European American Sub 8576 G=0.5496 C=0.4504
GO Exome Sequencing Project African American Sub 4380 G=0.1400 C=0.8600
1000Genomes_30x Global Study-wide 6404 G=0.3306 C=0.6694
1000Genomes_30x African Sub 1786 G=0.0733 C=0.9267
1000Genomes_30x Europe Sub 1266 G=0.5284 C=0.4716
1000Genomes_30x South Asian Sub 1202 G=0.4309 C=0.5691
1000Genomes_30x East Asian Sub 1170 G=0.2256 C=0.7744
1000Genomes_30x American Sub 980 G=0.546 C=0.454
1000Genomes Global Study-wide 5008 G=0.3333 C=0.6667
1000Genomes African Sub 1322 G=0.0764 C=0.9236
1000Genomes East Asian Sub 1008 G=0.2391 C=0.7609
1000Genomes Europe Sub 1006 G=0.5328 C=0.4672
1000Genomes South Asian Sub 978 G=0.429 C=0.571
1000Genomes American Sub 694 G=0.535 C=0.465
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.5254 C=0.4746
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.5459 C=0.4541
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.5534 C=0.4466
MxGDAR/Encodat-PGx Global Study-wide 3258 G=0.5715 C=0.4285
MxGDAR/Encodat-PGx MxGDAR Sub 3258 G=0.5715 C=0.4285
KOREAN population from KRGDB KOREAN Study-wide 2928 G=0.2705 C=0.7295
Korean Genome Project KOREAN Study-wide 1828 G=0.2615 C=0.7385
Genome-wide autozygosity in Daghestan Global Study-wide 1132 G=0.4532 C=0.5468
Genome-wide autozygosity in Daghestan Daghestan Sub 624 G=0.473 C=0.527
Genome-wide autozygosity in Daghestan Near_East Sub 144 G=0.368 C=0.632
Genome-wide autozygosity in Daghestan Central Asia Sub 122 G=0.418 C=0.582
Genome-wide autozygosity in Daghestan Europe Sub 108 G=0.546 C=0.454
Genome-wide autozygosity in Daghestan South Asian Sub 98 G=0.41 C=0.59
Genome-wide autozygosity in Daghestan Caucasus Sub 36 G=0.42 C=0.58
CNV burdens in cranial meningiomas Global Study-wide 788 G=0.259 C=0.741
CNV burdens in cranial meningiomas CRM Sub 788 G=0.259 C=0.741
A Vietnamese Genetic Variation Database Global Study-wide 614 G=0.244 C=0.756
Northern Sweden ACPOP Study-wide 600 G=0.527 C=0.473
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 G=0.693 C=0.307
SGDP_PRJ Global Study-wide 458 G=0.229 C=0.771
HapMap Global Study-wide 326 G=0.282 C=0.718
HapMap African Sub 120 G=0.058 C=0.942
HapMap American Sub 120 G=0.550 C=0.450
HapMap Asian Sub 86 G=0.22 C=0.78
Qatari Global Study-wide 216 G=0.301 C=0.699
Siberian Global Study-wide 48 G=0.27 C=0.73
The Danish reference pan genome Danish Study-wide 40 G=0.53 C=0.47
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 8 NC_000008.11:g.118951813G>C
GRCh37.p13 chr 8 NC_000008.10:g.119964052G>C
TNFRSF11B RefSeqGene NG_012202.1:g.5332C>G
Gene: COLEC10, collectin subfamily member 10 (plus strand) : 2KB Upstream Variant
Molecule type Change Amino acid[Codon] SO Term
COLEC10 transcript variant 2 NM_001324095.2:c. N/A Upstream Transcript Variant
COLEC10 transcript variant 1 NM_006438.5:c. N/A N/A
COLEC10 transcript variant X1 XM_005250756.4:c. N/A Upstream Transcript Variant
Gene: TNFRSF11B, TNF receptor superfamily member 11b (minus strand)
Molecule type Change Amino acid[Codon] SO Term
TNFRSF11B transcript NM_002546.4:c.9C>G N [AAC] > K [AAG] Coding Sequence Variant
tumor necrosis factor receptor superfamily member 11B precursor NP_002537.3:p.Asn3Lys N (Asn) > K (Lys) Missense 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: 253030 )
ClinVar Accession Disease Names Clinical Significance
RCV000250490.4 not specified Benign
RCV000291754.6 Hyperphosphatasemia with bone disease Benign
RCV001651170.6 not provided Benign
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 8 NC_000008.11:g.118951813= NC_000008.11:g.118951813G>C
GRCh37.p13 chr 8 NC_000008.10:g.119964052= NC_000008.10:g.119964052G>C
TNFRSF11B RefSeqGene NG_012202.1:g.5332= NG_012202.1:g.5332C>G
TNFRSF11B transcript NM_002546.4:c.9= NM_002546.4:c.9C>G
TNFRSF11B transcript NM_002546.3:c.9= NM_002546.3:c.9C>G
tumor necrosis factor receptor superfamily member 11B precursor NP_002537.3:p.Asn3= NP_002537.3:p.Asn3Lys
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#.

152 SubSNP, 26 Frequency, 3 ClinVar submissions
No Submitter Submission ID Date (Build)
1 YUSUKE ss2988012 Jun 15, 2001 (96)
2 HGBASE ss3182584 Aug 15, 2001 (98)
3 WI_SSAHASNP ss11960719 Jul 11, 2003 (116)
4 SC_SNP ss14862207 Dec 05, 2003 (119)
5 EGP_SNPS ss16358800 Feb 27, 2004 (120)
6 CSHL-HAPMAP ss17226387 Feb 27, 2004 (120)
7 PERLEGEN ss24690828 Sep 20, 2004 (123)
8 ABI ss44891770 Mar 13, 2006 (126)
9 APPLERA_GI ss48419145 Mar 13, 2006 (126)
10 ILLUMINA ss65730926 Oct 13, 2006 (127)
11 AFFY ss66032123 Nov 29, 2006 (127)
12 EGP_SNPS ss66857448 Nov 29, 2006 (127)
13 CSHL-HAPMAP ss68429041 Jan 12, 2007 (127)
14 PERLEGEN ss69060128 May 16, 2007 (127)
15 HGSV ss85482442 Dec 15, 2007 (130)
16 BGI ss104568821 Dec 01, 2009 (131)
17 1000GENOMES ss108341477 Jan 23, 2009 (130)
18 1000GENOMES ss113661933 Jan 25, 2009 (130)
19 ILLUMINA-UK ss116156389 Feb 14, 2009 (130)
20 GMI ss156815931 Dec 01, 2009 (131)
21 SEATTLESEQ ss159717311 Dec 01, 2009 (131)
22 ILLUMINA ss160498621 Dec 01, 2009 (131)
23 ENSEMBL ss161602619 Dec 01, 2009 (131)
24 COMPLETE_GENOMICS ss162732310 Jul 04, 2010 (132)
25 COMPLETE_GENOMICS ss165612789 Jul 04, 2010 (132)
26 ILLUMINA ss169052459 Jul 04, 2010 (132)
27 BUSHMAN ss199694136 Jul 04, 2010 (132)
28 BCM-HGSC-SUB ss206593268 Jul 04, 2010 (132)
29 1000GENOMES ss223943695 Jul 14, 2010 (132)
30 1000GENOMES ss234603446 Jul 15, 2010 (132)
31 1000GENOMES ss241422315 Jul 15, 2010 (132)
32 ILLUMINA ss244286946 Jul 04, 2010 (132)
33 GMI ss279979063 May 04, 2012 (137)
34 GMI ss285914342 Apr 25, 2013 (138)
35 PJP ss294172234 May 09, 2011 (134)
36 NHLBI-ESP ss342263310 May 09, 2011 (134)
37 ILLUMINA ss481209144 Sep 08, 2015 (146)
38 1000GENOMES ss490969538 May 04, 2012 (137)
39 EXOME_CHIP ss491416504 May 04, 2012 (137)
40 ILLUMINA ss532743207 Sep 08, 2015 (146)
41 TISHKOFF ss561028212 Apr 25, 2013 (138)
42 SSMP ss655465622 Apr 25, 2013 (138)
43 ILLUMINA ss780872378 Sep 08, 2015 (146)
44 ILLUMINA ss783557511 Sep 08, 2015 (146)
45 JMKIDD_LAB ss974468977 Aug 21, 2014 (142)
46 EVA-GONL ss985992257 Aug 21, 2014 (142)
47 JMKIDD_LAB ss1067499545 Aug 21, 2014 (142)
48 JMKIDD_LAB ss1075867464 Aug 21, 2014 (142)
49 1000GENOMES ss1331667670 Aug 21, 2014 (142)
50 HAMMER_LAB ss1397537477 Sep 08, 2015 (146)
51 DDI ss1431651893 Apr 01, 2015 (144)
52 EVA_GENOME_DK ss1582860795 Apr 01, 2015 (144)
53 EVA_DECODE ss1595606280 Apr 01, 2015 (144)
54 EVA_UK10K_ALSPAC ss1621596318 Apr 01, 2015 (144)
55 EVA_UK10K_TWINSUK ss1664590351 Apr 01, 2015 (144)
56 EVA_EXAC ss1689296335 Apr 01, 2015 (144)
57 EVA_MGP ss1711208607 Apr 01, 2015 (144)
58 ILLUMINA ss1752709173 Sep 08, 2015 (146)
59 HAMMER_LAB ss1805731615 Sep 08, 2015 (146)
60 ILLUMINA ss1917831322 Feb 12, 2016 (147)
61 WEILL_CORNELL_DGM ss1929266116 Feb 12, 2016 (147)
62 ILLUMINA ss1946245311 Feb 12, 2016 (147)
63 GENOMED ss1971079060 Jul 19, 2016 (147)
64 JJLAB ss2025336301 Sep 14, 2016 (149)
65 CSHL ss2136765410 Nov 08, 2017 (151)
66 USC_VALOUEV ss2153563485 Dec 20, 2016 (150)
67 HUMAN_LONGEVITY ss2306873824 Dec 20, 2016 (150)
68 SYSTEMSBIOZJU ss2627141365 Nov 08, 2017 (151)
69 ILLUMINA ss2634795749 Nov 08, 2017 (151)
70 GRF ss2709347997 Nov 08, 2017 (151)
71 GNOMAD ss2737315682 Nov 08, 2017 (151)
72 GNOMAD ss2748095154 Nov 08, 2017 (151)
73 GNOMAD ss2872017914 Nov 08, 2017 (151)
74 AFFY ss2985447085 Nov 08, 2017 (151)
75 AFFY ss2986091419 Nov 08, 2017 (151)
76 SWEGEN ss3003901134 Nov 08, 2017 (151)
77 ILLUMINA ss3022877802 Nov 08, 2017 (151)
78 EVA_SAMSUNG_MC ss3023064128 Nov 08, 2017 (151)
79 BIOINF_KMB_FNS_UNIBA ss3026452992 Nov 08, 2017 (151)
80 CSHL ss3348376706 Nov 08, 2017 (151)
81 ILLUMINA ss3625969593 Oct 12, 2018 (152)
82 ILLUMINA ss3630145443 Oct 12, 2018 (152)
83 ILLUMINA ss3630145444 Oct 12, 2018 (152)
84 ILLUMINA ss3635187772 Oct 12, 2018 (152)
85 ILLUMINA ss3636928124 Oct 12, 2018 (152)
86 ILLUMINA ss3638782786 Oct 12, 2018 (152)
87 ILLUMINA ss3640895063 Oct 12, 2018 (152)
88 ILLUMINA ss3644978558 Oct 12, 2018 (152)
89 OMUKHERJEE_ADBS ss3646381086 Oct 12, 2018 (152)
90 ILLUMINA ss3653423655 Oct 12, 2018 (152)
91 ILLUMINA ss3654210445 Oct 12, 2018 (152)
92 EGCUT_WGS ss3671620238 Jul 13, 2019 (153)
93 EVA_DECODE ss3722888319 Jul 13, 2019 (153)
94 ILLUMINA ss3726567112 Jul 13, 2019 (153)
95 ACPOP ss3736048404 Jul 13, 2019 (153)
96 ILLUMINA ss3744583033 Jul 13, 2019 (153)
97 ILLUMINA ss3745487633 Jul 13, 2019 (153)
98 EVA ss3768535589 Jul 13, 2019 (153)
99 ILLUMINA ss3772979969 Jul 13, 2019 (153)
100 PACBIO ss3786262050 Jul 13, 2019 (153)
101 PACBIO ss3791497705 Jul 13, 2019 (153)
102 PACBIO ss3796379199 Jul 13, 2019 (153)
103 KHV_HUMAN_GENOMES ss3811699798 Jul 13, 2019 (153)
104 EVA ss3824389865 Apr 26, 2020 (154)
105 EVA ss3825525282 Apr 26, 2020 (154)
106 EVA ss3825540957 Apr 26, 2020 (154)
107 EVA ss3825745920 Apr 26, 2020 (154)
108 EVA ss3831382435 Apr 26, 2020 (154)
109 EVA ss3839200856 Apr 26, 2020 (154)
110 EVA ss3844661763 Apr 26, 2020 (154)
111 SGDP_PRJ ss3870865563 Apr 26, 2020 (154)
112 KRGDB ss3918459326 Apr 26, 2020 (154)
113 KOGIC ss3964726045 Apr 26, 2020 (154)
114 FSA-LAB ss3984405657 Apr 26, 2021 (155)
115 FSA-LAB ss3984405658 Apr 26, 2021 (155)
116 EVA ss3984448967 Apr 26, 2021 (155)
117 EVA ss3984611136 Apr 26, 2021 (155)
118 EVA ss3986044615 Apr 26, 2021 (155)
119 EVA ss3986431613 Apr 26, 2021 (155)
120 TOPMED ss4802170302 Apr 26, 2021 (155)
121 EVA ss5141942810 Apr 26, 2021 (155)
122 TOMMO_GENOMICS ss5190730337 Apr 26, 2021 (155)
123 EVA ss5237044481 Apr 26, 2021 (155)
124 EVA ss5237202128 Apr 26, 2021 (155)
125 EVA ss5237448989 Apr 26, 2021 (155)
126 EVA ss5237651911 Oct 16, 2022 (156)
127 1000G_HIGH_COVERAGE ss5278726635 Oct 16, 2022 (156)
128 TRAN_CS_UWATERLOO ss5314423884 Oct 16, 2022 (156)
129 EVA ss5315359156 Oct 16, 2022 (156)
130 EVA ss5384065257 Oct 16, 2022 (156)
131 HUGCELL_USP ss5475129125 Oct 16, 2022 (156)
132 EVA ss5509530410 Oct 16, 2022 (156)
133 1000G_HIGH_COVERAGE ss5569953864 Oct 16, 2022 (156)
134 EVA ss5623944428 Oct 16, 2022 (156)
135 EVA ss5624179903 Oct 16, 2022 (156)
136 SANFORD_IMAGENETICS ss5624704315 Oct 16, 2022 (156)
137 SANFORD_IMAGENETICS ss5646291679 Oct 16, 2022 (156)
138 TOMMO_GENOMICS ss5733378215 Oct 16, 2022 (156)
139 EVA ss5799436026 Oct 16, 2022 (156)
140 EVA ss5800059649 Oct 16, 2022 (156)
141 EVA ss5800148438 Oct 16, 2022 (156)
142 YY_MCH ss5810083380 Oct 16, 2022 (156)
143 EVA ss5831141529 Oct 16, 2022 (156)
144 EVA ss5847345815 Oct 16, 2022 (156)
145 EVA ss5848188226 Oct 16, 2022 (156)
146 EVA ss5848712103 Oct 16, 2022 (156)
147 EVA ss5856547405 Oct 16, 2022 (156)
148 EVA ss5890782331 Oct 16, 2022 (156)
149 EVA ss5936539571 Oct 16, 2022 (156)
150 EVA ss5975537604 Oct 16, 2022 (156)
151 EVA ss5979875682 Oct 16, 2022 (156)
152 EVA ss5981251258 Oct 16, 2022 (156)
153 1000Genomes NC_000008.10 - 119964052 Oct 12, 2018 (152)
154 1000Genomes_30x NC_000008.11 - 118951813 Oct 16, 2022 (156)
155 The Avon Longitudinal Study of Parents and Children NC_000008.10 - 119964052 Oct 12, 2018 (152)
156 Genome-wide autozygosity in Daghestan NC_000008.9 - 120033233 Apr 26, 2020 (154)
157 Genetic variation in the Estonian population NC_000008.10 - 119964052 Oct 12, 2018 (152)
158 ExAC NC_000008.10 - 119964052 Oct 12, 2018 (152)
159 The Danish reference pan genome NC_000008.10 - 119964052 Apr 26, 2020 (154)
160 gnomAD - Genomes NC_000008.11 - 118951813 Apr 26, 2021 (155)
161 gnomAD - Exomes NC_000008.10 - 119964052 Jul 13, 2019 (153)
162 GO Exome Sequencing Project NC_000008.10 - 119964052 Oct 12, 2018 (152)
163 HapMap NC_000008.11 - 118951813 Apr 26, 2020 (154)
164 KOREAN population from KRGDB NC_000008.10 - 119964052 Apr 26, 2020 (154)
165 Korean Genome Project NC_000008.11 - 118951813 Apr 26, 2020 (154)
166 Medical Genome Project healthy controls from Spanish population NC_000008.10 - 119964052 Apr 26, 2020 (154)
167 Northern Sweden NC_000008.10 - 119964052 Jul 13, 2019 (153)
168 CNV burdens in cranial meningiomas NC_000008.10 - 119964052 Apr 26, 2021 (155)
169 MxGDAR/Encodat-PGx NC_000008.10 - 119964052 Apr 26, 2021 (155)
170 Qatari NC_000008.10 - 119964052 Apr 26, 2020 (154)
171 SGDP_PRJ NC_000008.10 - 119964052 Apr 26, 2020 (154)
172 Siberian NC_000008.10 - 119964052 Apr 26, 2020 (154)
173 8.3KJPN NC_000008.10 - 119964052 Apr 26, 2021 (155)
174 14KJPN NC_000008.11 - 118951813 Oct 16, 2022 (156)
175 TopMed NC_000008.11 - 118951813 Apr 26, 2021 (155)
176 UK 10K study - Twins NC_000008.10 - 119964052 Oct 12, 2018 (152)
177 A Vietnamese Genetic Variation Database NC_000008.10 - 119964052 Jul 13, 2019 (153)
178 ALFA NC_000008.11 - 118951813 Apr 26, 2021 (155)
179 ClinVar RCV000250490.4 Oct 16, 2022 (156)
180 ClinVar RCV000291754.6 Oct 16, 2022 (156)
181 ClinVar RCV001651170.6 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)
rs17751701 Oct 08, 2004 (123)
rs60810341 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
511135, ss85482442, ss108341477, ss113661933, ss116156389, ss162732310, ss165612789, ss199694136, ss206593268, ss279979063, ss285914342, ss294172234, ss1397537477, ss1595606280, ss2136765410 NC_000008.9:120033232:G:C NC_000008.11:118951812:G:C (self)
43858482, 24397819, 17358486, 9405508, 9025732, 6490068, 847697, 25636720, 324367, 9333269, 160575, 1968, 11308046, 22882543, 6079839, 48699644, 24397819, 5421697, ss223943695, ss234603446, ss241422315, ss342263310, ss481209144, ss490969538, ss491416504, ss532743207, ss561028212, ss655465622, ss780872378, ss783557511, ss974468977, ss985992257, ss1067499545, ss1075867464, ss1331667670, ss1431651893, ss1582860795, ss1621596318, ss1664590351, ss1689296335, ss1711208607, ss1752709173, ss1805731615, ss1917831322, ss1929266116, ss1946245311, ss1971079060, ss2025336301, ss2153563485, ss2627141365, ss2634795749, ss2709347997, ss2737315682, ss2748095154, ss2872017914, ss2985447085, ss2986091419, ss3003901134, ss3022877802, ss3023064128, ss3348376706, ss3625969593, ss3630145443, ss3630145444, ss3635187772, ss3636928124, ss3638782786, ss3640895063, ss3644978558, ss3646381086, ss3653423655, ss3654210445, ss3671620238, ss3736048404, ss3744583033, ss3745487633, ss3768535589, ss3772979969, ss3786262050, ss3791497705, ss3796379199, ss3824389865, ss3825525282, ss3825540957, ss3825745920, ss3831382435, ss3839200856, ss3870865563, ss3918459326, ss3984405657, ss3984405658, ss3984448967, ss3984611136, ss3986044615, ss3986431613, ss5190730337, ss5237448989, ss5315359156, ss5384065257, ss5509530410, ss5623944428, ss5624179903, ss5624704315, ss5646291679, ss5799436026, ss5800059649, ss5800148438, ss5831141529, ss5847345815, ss5848188226, ss5848712103, ss5936539571, ss5975537604, ss5979875682, ss5981251258 NC_000008.10:119964051:G:C NC_000008.11:118951812:G:C (self)
RCV000250490.4, RCV000291754.6, RCV001651170.6, 57479799, 309427682, 3712261, 21104046, 67215319, 639547862, 9085569158, ss2306873824, ss3026452992, ss3722888319, ss3726567112, ss3811699798, ss3844661763, ss3964726045, ss4802170302, ss5141942810, ss5237044481, ss5237202128, ss5237651911, ss5278726635, ss5314423884, ss5475129125, ss5569953864, ss5733378215, ss5810083380, ss5856547405, ss5890782331 NC_000008.11:118951812:G:C NC_000008.11:118951812:G:C (self)
ss11960719 NT_008046.13:33182229:G:C NC_000008.11:118951812:G:C (self)
ss14862207, ss17226387 NT_008046.14:33182229:G:C NC_000008.11:118951812:G:C (self)
ss2988012, ss3182584, ss16358800, ss24690828, ss44891770, ss48419145, ss65730926, ss66032123, ss66857448, ss68429041, ss69060128, ss104568821, ss156815931, ss159717311, ss160498621, ss161602619, ss169052459, ss244286946 NT_008046.16:33237600:G:C NC_000008.11:118951812: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.

71 citations for rs2073618
PMID Title Author Year Journal
12096838 Polymorphisms in the osteoprotegerin gene are associated with osteoporotic fractures. Langdahl BL et al. 2002 Journal of bone and mineral research
16583245 Genetic susceptibility to hip arthroplasty failure--association with the RANK/OPG pathway. Malik MH et al. 2006 International orthopaedics
19458885 Association analyses of RANKL/RANK/OPG gene polymorphisms with femoral neck compression strength index variation in Caucasians. Dong SS et al. 2009 Calcified tissue international
20205168 Genetic variation in the RANKL/RANK/OPG signaling pathway is associated with bone turnover and bone mineral density in men. Roshandel D et al. 2010 Journal of bone and mineral research
20231205 Genetic variations in genes encoding RANK, RANKL, and OPG in rheumatoid arthritis: a case-control study. Assmann G et al. 2010 The Journal of rheumatology
20357209 Molecular genetic studies of gene identification for osteoporosis: the 2009 update. Xu XH et al. 2010 Endocrine reviews
21396799 Genetic polymorphisms and other risk factors associated with bisphosphonate induced osteonecrosis of the jaw. Katz J et al. 2011 International journal of oral and maxillofacial surgery
21411255 TNFRSF11B gene polymorphisms 1181G > C and 245T > G as well as haplotype CT influence bone mineral density in postmenopausal women. Mencej-Bedrač S et al. 2011 Maturitas
21964949 Influence of polymorphisms in the RANKL/RANK/OPG signaling pathway on volumetric bone mineral density and bone geometry at the forearm in men. Roshandel D et al. 2011 Calcified tissue international
22185226 "Single nucleotide polymorphisms of the OPG/RANKL system genes in primary hyperparathyroidism and their relationship with bone mineral density". Piedra M et al. 2011 BMC medical genetics
23299915 Osteoprotegerin gene rs2073617 and rs3134069 polymorphisms in type 2 diabetes patients and sex‑specific rs2073618 polymorphism as a risk factor for diabetic foot. Nehring P et al. 2013 Polskie Archiwum Medycyny Wewnetrznej
23531404 Association of genetic polymorphisms of RANK, RANKL and OPG with bone mineral density in Chinese peri- and postmenopausal women. Shang M et al. 2013 Clinical biochemistry
24130145 Polymorphism of LRP5, but not of TNFRSF11B, is associated with a decrease in bone mineral density in postmenopausal Maya-Mestizo women. Canto-Cetina T et al. 2013 American journal of human biology
24886600 A genetic variant in osteoprotegerin is associated with progression of joint destruction in rheumatoid arthritis. Knevel R et al. 2014 Arthritis research & therapy
25019155 RANK rs1805034 T>C polymorphism is associated with susceptibility of esophageal cancer in a Chinese population. Yin J et al. 2014 PloS one
25032118 Exclusion of TNFRSF11B as Candidate Gene for Otosclerosis in Campania Population. Iossa S et al. 2014 Indian journal of otolaryngology and head and neck surgery
25097799 Developments in Ocular Genetics: 2013 Annual Review. Aboobakar IF et al. 2014 Asia-Pacific journal of ophthalmology (Philadelphia, Pa.)
25184828 Osteoprotegerin CGA haplotype protection against cerebrovascular complications in anti-CCP negative patients with rheumatoid arthritis. Genre F et al. 2014 PloS one
25323794 TNFRSF11B gene polymorphisms, bone mineral density, and fractures in Slovak postmenopausal women. Boroňová I et al. 2015 Journal of applied genetics
25609157 RANKL and OPG gene polymorphisms: associations with vertebral fractures and bone mineral density in premenopausal systemic lupus erythematosus. Bonfá AC et al. 2015 Osteoporosis international
25724681 The association between RANKL and Osteoprotegerin gene polymorphisms with breast cancer. Omar HS et al. 2015 Molecular and cellular biochemistry
25741868 Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Richards S et al. 2015 Genetics in medicine
26054853 Osteoprotegerin in breast cancer: beyond bone remodeling. Weichhaus M et al. 2015 Molecular cancer
26218592 RANKL and OPG Polymorphisms Are Associated with Aromatase Inhibitor-Related Musculoskeletal Adverse Events in Chinese Han Breast Cancer Patients. Wang J et al. 2015 PloS one
26451891 RANK rs1805034 T>C Polymorphism Is Associated with Susceptibility to Gastric Cardia Adenocarcinoma in a Chinese Population. Zhang WB et al. 2015 Oncology research and treatment
26648684 Update on genetics and diabetic retinopathy. Hampton BM et al. 2015 Clinical ophthalmology (Auckland, N.Z.)
26798969 Genetic variant in the osteoprotegerin gene is associated with aromatase inhibitor-related musculoskeletal toxicity in breast cancer patients. Lintermans A et al. 2016 European journal of cancer (Oxford, England
27068490 Relationships of OPG Genetic Polymorphisms with Susceptibility to Cardiovascular Disease: A Meta-Analysis. Song DH et al. 2016 Medical science monitor
27171030 Gene Polymorphisms in the RANKL/RANK/OPG Pathway Are Associated with Type 2 Diabetes Mellitus in Southern Han Chinese Women. Duan P et al. 2016 Genetic testing and molecular biomarkers
27311721 Associations between OPG and RANKL polymorphisms, vertebral fractures, and abdominal aortic calcification in community-dwelling older subjects: the Sao Paulo Ageing & Health Study (SPAH). Pereira RMR et al. 2016 Osteoporosis international
27446264 OPG rs2073617 polymorphism is associated with upregulated OPG protein expression and an increased risk of intervertebral disc degeneration. Xue JB et al. 2016 Experimental and therapeutic medicine
27446399 Expression levels of JNK associated with polymorphic lactotransferrin haplotypes in human nasopharyngeal carcinoma. Luo G et al. 2016 Oncology letters
27493142 Genetic determinants and postorthodontic external apical root resorption in Czech children. Borilova Linhartova P et al. 2017 Oral diseases
27589735 A Genomics-Based Model for Prediction of Severe Bioprosthetic Mitral Valve Calcification. Ponasenko AV et al. 2016 International journal of molecular sciences
27651922 Association between RANK, RANKL and OPG polymorphisms with ACPA and erosions in rheumatoid arthritis: results from a meta-analysis involving three French cohorts. Ruyssen-Witrand A et al. 2016 RMD open
27730450 Candidate gene studies of diabetic retinopathy in human. Priščáková P et al. 2016 Molecular biology reports
27828936 Osteoprotegerin Gene (OPG) Polymorphisms Associated with Peri-implantitis Susceptibility in a Chinese Han Population. Zhou J et al. 2016 Medical science monitor
28244588 Investigation of OPG/RANK/RANKL Genes as a Genetic Marker for Cardiac abnormalities in Thalassemia Major Patients. Singh MM et al. 2017 Annals of human genetics
28252575 RANKL/RANK/OPG Polymorphisms and Heel Quantitative Ultrasound in Young Adults. Correa-Rodríguez M et al. 2017 Nursing research
28488893 VDR, RANKL and OPG polymorphisms as possible predisposing cofactors of postmenopausal osteoporosis: explorative study in Italian population. Mamolini E et al. 2017 Gynecological endocrinology
28496203 Common Variants in OPG Confer Risk to Bone Mineral Density Variation and Osteoporosis Fractures. Sheng X et al. 2017 Scientific reports
28593808 Polymorphism rs2073618 of the osteoprotegerin gene as a potential marker of subclinical carotid atherosclerosis in Caucasians with type 2 diabetes mellitus. Pleskovič A et al. 2017 VASA. Zeitschrift fur Gefasskrankheiten
28728263 [Identification of mutations associated with coronary artery lesion susceptibility in Kawasaki disease by targeted enrichment of genomic region sequencing technique]. Zhu DY et al. 2017 Zhonghua er ke za zhi = Chinese journal of pediatrics
28758134 Polymorphism rs2073618 of the TNFRSF11B (OPG) Gene and Bone Mineral Density in Mexican Women with Rheumatoid Arthritis. Nava-Valdivia CA et al. 2017 Journal of immunology research
29212847 Attempted replication of SNPs in RANKL and OPG with musculoskeletal adverse events during aromatase inhibitor treatment for breast cancer. Dempsey JM et al. 2018 Physiological genomics
29798716 Genetic polymorphism in RANK is associated with mandibular size. Küchler EC et al. 2018 Journal of orthodontics
30309792 Association of SNP-SNP Interactions Between RANKL, OPG, CHI3L1, and VDR Genes With Breast Cancer Risk in Egyptian Women. Shaker OG et al. 2019 Clinical breast cancer
30624097 Association of VDR and OPG gene polymorphism with osteoporosis risk in Chinese postmenopausal women. Wu F et al. 2019 Climacteric
30795980 Examination of OPG, RANK, RANKL and HIF1A polymorphisms in temporomandibular joint ankylosis patients. Corso PFCL et al. 2019 Journal of cranio-maxillo-facial surgery
30871729 Genetic Polymorphisms in RANK and RANKL are Associated with Persistent Apical Periodontitis. Petean IBF et al. 2019 Journal of endodontics
30918864 Selected RANKL/RANK/OPG system genetic variants in diabetic foot patients. Mrozikiewicz-Rakowska B et al. 2018 Journal of diabetes and metabolic disorders
30991288 VEGFR2 and OPG genes modify the risk of subclinical coronary atherosclerosis in patients with familial hypercholesterolemia. Miramontes-González JP et al. 2019 Atherosclerosis
31015798 Association of Genetic Variants of RANK, RANKL, and OPG with Ankylosing Spondylitis Clinical Features in Taiwanese. Wang CM et al. 2019 Mediators of inflammation
31085105 Genetic Variants Associated with Cancer Pain and Response to Opioid Analgesics: Implications for Precision Pain Management. Yang GS et al. 2019 Seminars in oncology nursing
31149839 Association of Variant Interactions in RANK, RANKL, OPG, TRAF6, and NFATC1 Genes with the Development of Osteonecrosis of the Femoral Head. Chen B et al. 2019 DNA and cell biology
31157557 Osteoprotegerin and osteopontin levels, but not gene polymorphisms, predict mortality in cardiovascular diseases. Lin JF et al. 2019 Biomarkers in medicine
31209146 The association between RANK, RANKL and OPG gene polymorphisms and the risk of rheumatoid arthritis: a case-controlled study and meta-analysis. Yang H et al. 2019 Bioscience reports
32159708 Association between Genetic Polymorphisms in RANK, RANKL and OPG and Peri-Implant Diseases in Patients from the Amazon Region. Silva RCE et al. 2020 Brazilian dental journal
32222535 TNFRSF11B polymorphisms predict poor outcome after large artery atherosclerosis stroke. Wang M et al. 2020 Gene
32493243 Osteoprotegerin gene polymorphisms and otosclerosis: an additional genetic association study, multilocus interaction and meta-analysis. Bouzid A et al. 2020 BMC medical genetics
32955941 Genetic Variants and Haplotypes in OPG Gene Are Associated with Premature Coronary Artery Disease and Traditional Cardiovascular Risk Factors in Mexican Population: The GEA Study. Pérez-Hernández N et al. 2020 DNA and cell biology
33572979 Association of RANKL and OPG Gene Polymorphism in Arab Women with and without Osteoporosis. Abdi S et al. 2021 Genes
33755955 Preliminary results of ethnic divergence of G1181C (rs2073618) and C290T (rs9525641) OPG gene polymorphisms in groups of postmenopausal Slovak women. Mydlárová Blaščáková M et al. 2021 European review for medical and pharmacological sciences
34211496 Further Evidence That OPG rs2073618 Is Associated With Increased Risk of Musculoskeletal Symptoms in Patients Receiving Aromatase Inhibitors for Early Breast Cancer. Hertz DL et al. 2021 Frontiers in genetics
34251978 The association of OPG polymorphisms with diabetic retinopathy in Chinese population. Xu H et al. 2021 Ophthalmic genetics
34660648 Genetic Mutations in TNFSF11 Were Associated With the Chronicity of Hepatitis C Among Chinese Han Population. Huang P et al. 2021 Frontiers in medicine
34699125 Bone health in pediatric transfusion-dependent beta-thalassemia: Circulating osteoprotegerin and RANKL system. Youssry I et al. 2022 Pediatric blood & cancer
34716467 Associations of osteoprotegerin (OPG) TNFRSF11B gene polymorphisms with risk of fractures in older adult populations: meta-analysis of genetic and genome-wide association studies. Tharabenjasin P et al. 2022 Osteoporosis international
35292045 Legg-Calvé-Perthes disease overview. Rodríguez-Olivas AO et al. 2022 Orphanet journal of rare diseases
35680906 Osteoprotegerin and MTHFR gene variations in rheumatoid arthritis: association with disease susceptibility and markers of subclinical atherosclerosis. Arida A et al. 2022 Scientific reports
35868414 Association of OPG and RANKL gene polymorphisms with bone mineral density in Indian women. Nair S et al. 2022 Gene
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The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

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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.
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Software version is: 2.0.1.post761+d5e8e07