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)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
-
TNFRSF11B : Missense VariantCOLEC10 : 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.
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 |
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").
DownloadStudy | 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 |
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.
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 |
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 |
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 |
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.
ClinVar Accession | Disease Names | Clinical Significance |
---|---|---|
RCV000250490.4 | not specified | Benign |
RCV000291754.6 | Hyperphosphatasemia with bone disease | Benign |
RCV001651170.6 | not provided | Benign |
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 |
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#.
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) |
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) |
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) |
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
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 |
The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.
Genomic regions, transcripts, and products
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Help
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.