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.
rs10086908
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr8:126999692 (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
- T>C
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
C=0.295632 (90254/305292, ALFA)C=0.281873 (74609/264690, TOPMED)C=0.277116 (38783/139952, GnomAD) (+ 21 more)
- Clinical Significance
- Not Reported in ClinVar
- Gene : Consequence
- LOC105375751 : Intron Variant
- Publications
- 32 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 | 310328 | T=0.704458 | C=0.295542 |
European | Sub | 273416 | T=0.701265 | C=0.298735 |
African | Sub | 9524 | T=0.7513 | C=0.2487 |
African Others | Sub | 372 | T=0.772 | C=0.228 |
African American | Sub | 9152 | T=0.7504 | C=0.2496 |
Asian | Sub | 3940 | T=0.7937 | C=0.2063 |
East Asian | Sub | 3194 | T=0.8062 | C=0.1938 |
Other Asian | Sub | 746 | T=0.740 | C=0.260 |
Latin American 1 | Sub | 1134 | T=0.7143 | C=0.2857 |
Latin American 2 | Sub | 7226 | T=0.6507 | C=0.3493 |
South Asian | Sub | 5222 | T=0.7646 | C=0.2354 |
Other | Sub | 9866 | T=0.7185 | C=0.2815 |
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 |
---|---|---|---|---|---|
Allele Frequency Aggregator | Total | Global | 305292 | T=0.704368 | C=0.295632 |
Allele Frequency Aggregator | European | Sub | 270322 | T=0.701245 | C=0.298755 |
Allele Frequency Aggregator | Other | Sub | 9066 | T=0.7216 | C=0.2784 |
Allele Frequency Aggregator | African | Sub | 8382 | T=0.7518 | C=0.2482 |
Allele Frequency Aggregator | Latin American 2 | Sub | 7226 | T=0.6507 | C=0.3493 |
Allele Frequency Aggregator | South Asian | Sub | 5222 | T=0.7646 | C=0.2354 |
Allele Frequency Aggregator | Asian | Sub | 3940 | T=0.7937 | C=0.2063 |
Allele Frequency Aggregator | Latin American 1 | Sub | 1134 | T=0.7143 | C=0.2857 |
TopMed | Global | Study-wide | 264690 | T=0.718127 | C=0.281873 |
gnomAD - Genomes | Global | Study-wide | 139952 | T=0.722884 | C=0.277116 |
gnomAD - Genomes | European | Sub | 75826 | T=0.70614 | C=0.29386 |
gnomAD - Genomes | African | Sub | 41900 | T=0.75783 | C=0.24217 |
gnomAD - Genomes | American | Sub | 13626 | T=0.67613 | C=0.32387 |
gnomAD - Genomes | Ashkenazi Jewish | Sub | 3322 | T=0.7748 | C=0.2252 |
gnomAD - Genomes | East Asian | Sub | 3134 | T=0.8181 | C=0.1819 |
gnomAD - Genomes | Other | Sub | 2144 | T=0.7094 | C=0.2906 |
The PAGE Study | Global | Study-wide | 78698 | T=0.72973 | C=0.27027 |
The PAGE Study | AfricanAmerican | Sub | 32514 | T=0.75229 | C=0.24771 |
The PAGE Study | Mexican | Sub | 10810 | T=0.64838 | C=0.35162 |
The PAGE Study | Asian | Sub | 8316 | T=0.7938 | C=0.2062 |
The PAGE Study | PuertoRican | Sub | 7918 | T=0.6912 | C=0.3088 |
The PAGE Study | NativeHawaiian | Sub | 4534 | T=0.8240 | C=0.1760 |
The PAGE Study | Cuban | Sub | 4230 | T=0.6991 | C=0.3009 |
The PAGE Study | Dominican | Sub | 3828 | T=0.7019 | C=0.2981 |
The PAGE Study | CentralAmerican | Sub | 2450 | T=0.6816 | C=0.3184 |
The PAGE Study | SouthAmerican | Sub | 1982 | T=0.6604 | C=0.3396 |
The PAGE Study | NativeAmerican | Sub | 1260 | T=0.6976 | C=0.3024 |
The PAGE Study | SouthAsian | Sub | 856 | T=0.756 | C=0.244 |
14KJPN | JAPANESE | Study-wide | 28258 | T=0.79669 | C=0.20331 |
8.3KJPN | JAPANESE | Study-wide | 16760 | T=0.79487 | C=0.20513 |
1000Genomes_30x | Global | Study-wide | 6404 | T=0.7289 | C=0.2711 |
1000Genomes_30x | African | Sub | 1786 | T=0.7800 | C=0.2200 |
1000Genomes_30x | Europe | Sub | 1266 | T=0.6730 | C=0.3270 |
1000Genomes_30x | South Asian | Sub | 1202 | T=0.7446 | C=0.2554 |
1000Genomes_30x | East Asian | Sub | 1170 | T=0.7786 | C=0.2214 |
1000Genomes_30x | American | Sub | 980 | T=0.630 | C=0.370 |
1000Genomes | Global | Study-wide | 5008 | T=0.7318 | C=0.2682 |
1000Genomes | African | Sub | 1322 | T=0.7753 | C=0.2247 |
1000Genomes | East Asian | Sub | 1008 | T=0.7837 | C=0.2163 |
1000Genomes | Europe | Sub | 1006 | T=0.6839 | C=0.3161 |
1000Genomes | South Asian | Sub | 978 | T=0.734 | C=0.266 |
1000Genomes | American | Sub | 694 | T=0.640 | C=0.360 |
Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | T=0.7388 | C=0.2612 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | T=0.7011 | C=0.2989 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | T=0.7044 | C=0.2956 |
KOREAN population from KRGDB | KOREAN | Study-wide | 2930 | T=0.8133 | C=0.1867 |
HGDP-CEPH-db Supplement 1 | Global | Study-wide | 2084 | T=0.7265 | C=0.2735 |
HGDP-CEPH-db Supplement 1 | Est_Asia | Sub | 470 | T=0.821 | C=0.179 |
HGDP-CEPH-db Supplement 1 | Central_South_Asia | Sub | 414 | T=0.787 | C=0.213 |
HGDP-CEPH-db Supplement 1 | Middle_Est | Sub | 350 | T=0.703 | C=0.297 |
HGDP-CEPH-db Supplement 1 | Europe | Sub | 320 | T=0.688 | C=0.312 |
HGDP-CEPH-db Supplement 1 | Africa | Sub | 242 | T=0.707 | C=0.293 |
HGDP-CEPH-db Supplement 1 | America | Sub | 216 | T=0.579 | C=0.421 |
HGDP-CEPH-db Supplement 1 | Oceania | Sub | 72 | T=0.56 | C=0.44 |
HapMap | Global | Study-wide | 1892 | T=0.7252 | C=0.2748 |
HapMap | American | Sub | 770 | T=0.722 | C=0.278 |
HapMap | African | Sub | 692 | T=0.715 | C=0.285 |
HapMap | Asian | Sub | 254 | T=0.780 | C=0.220 |
HapMap | Europe | Sub | 176 | T=0.699 | C=0.301 |
Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | T=0.690 | C=0.310 |
CNV burdens in cranial meningiomas | Global | Study-wide | 790 | T=0.823 | C=0.177 |
CNV burdens in cranial meningiomas | CRM | Sub | 790 | T=0.823 | C=0.177 |
Northern Sweden | ACPOP | Study-wide | 600 | T=0.695 | C=0.305 |
SGDP_PRJ | Global | Study-wide | 254 | T=0.417 | C=0.583 |
Qatari | Global | Study-wide | 216 | T=0.759 | C=0.241 |
A Vietnamese Genetic Variation Database | Global | Study-wide | 212 | T=0.792 | C=0.208 |
Ancient Sardinia genome-wide 1240k capture data generation and analysis | Global | Study-wide | 78 | T=0.59 | C=0.41 |
The Danish reference pan genome | Danish | Study-wide | 40 | T=0.72 | C=0.28 |
Siberian | Global | Study-wide | 24 | T=0.50 | C=0.50 |
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.126999692T>C |
GRCh37.p13 chr 8 | NC_000008.10:g.128011937T>C |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
LOC105375751 transcript variant X12 | XR_007061105.1:n. | N/A | Intron Variant |
LOC105375751 transcript variant X5 | XR_001746078.3:n. | N/A | Genic Downstream Transcript Variant |
LOC105375751 transcript variant X8 | XR_001746079.3:n. | N/A | Genic Downstream Transcript Variant |
LOC105375751 transcript variant X4 | XR_001746080.3:n. | N/A | Genic Downstream Transcript Variant |
LOC105375751 transcript variant X1 | XR_007061097.1:n. | N/A | Genic Downstream Transcript Variant |
LOC105375751 transcript variant X2 | XR_007061098.1:n. | N/A | Genic Downstream Transcript Variant |
LOC105375751 transcript variant X3 | XR_007061099.1:n. | N/A | Genic Downstream Transcript Variant |
LOC105375751 transcript variant X6 | XR_007061100.1:n. | N/A | Genic Downstream Transcript Variant |
LOC105375751 transcript variant X7 | XR_007061101.1:n. | N/A | Genic Downstream Transcript Variant |
LOC105375751 transcript variant X9 | XR_007061102.1:n. | N/A | Genic Downstream Transcript Variant |
LOC105375751 transcript variant X10 | XR_007061103.1:n. | N/A | Genic Downstream Transcript Variant |
LOC105375751 transcript variant X11 | XR_007061104.1:n. | N/A | Genic Downstream Transcript 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.
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 | T= | C |
---|---|---|
GRCh38.p14 chr 8 | NC_000008.11:g.126999692= | NC_000008.11:g.126999692T>C |
GRCh37.p13 chr 8 | NC_000008.10:g.128011937= | NC_000008.10:g.128011937T>C |
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 | WI_SSAHASNP | ss13942530 | Dec 05, 2003 (119) |
2 | PERLEGEN | ss23515924 | Sep 20, 2004 (123) |
3 | ILLUMINA | ss66696821 | Dec 02, 2006 (127) |
4 | ILLUMINA | ss66868603 | Dec 02, 2006 (127) |
5 | ILLUMINA | ss66943384 | Dec 02, 2006 (127) |
6 | ILLUMINA | ss70358286 | May 18, 2007 (127) |
7 | ILLUMINA | ss70464047 | May 24, 2008 (130) |
8 | ILLUMINA | ss70985124 | May 18, 2007 (127) |
9 | ILLUMINA | ss75634107 | Dec 06, 2007 (129) |
10 | KRIBB_YJKIM | ss84901726 | Dec 15, 2007 (130) |
11 | BGI | ss104574341 | Dec 01, 2009 (131) |
12 | 1000GENOMES | ss113754111 | Jan 25, 2009 (130) |
13 | ILLUMINA | ss121261627 | Dec 01, 2009 (131) |
14 | ILLUMINA | ss152563874 | Dec 01, 2009 (131) |
15 | GMI | ss156878390 | Dec 01, 2009 (131) |
16 | ILLUMINA | ss159107988 | Dec 01, 2009 (131) |
17 | ILLUMINA | ss159861339 | Dec 01, 2009 (131) |
18 | COMPLETE_GENOMICS | ss162784814 | Jul 04, 2010 (132) |
19 | COMPLETE_GENOMICS | ss165712229 | Jul 04, 2010 (132) |
20 | COMPLETE_GENOMICS | ss167123078 | Jul 04, 2010 (132) |
21 | ILLUMINA | ss169250221 | Jul 04, 2010 (132) |
22 | ILLUMINA | ss169641625 | Jul 04, 2010 (132) |
23 | BUSHMAN | ss199767730 | Jul 04, 2010 (132) |
24 | BCM-HGSC-SUB | ss206488414 | Jul 04, 2010 (132) |
25 | 1000GENOMES | ss223976857 | Jul 14, 2010 (132) |
26 | 1000GENOMES | ss234626048 | Jul 15, 2010 (132) |
27 | 1000GENOMES | ss241440269 | Jul 15, 2010 (132) |
28 | GMI | ss280002462 | May 04, 2012 (137) |
29 | PAGE_STUDY | ss469414532 | May 04, 2012 (137) |
30 | ILLUMINA | ss479181808 | May 04, 2012 (137) |
31 | ILLUMINA | ss479183947 | May 04, 2012 (137) |
32 | ILLUMINA | ss479511766 | Sep 08, 2015 (146) |
33 | ILLUMINA | ss484391926 | May 04, 2012 (137) |
34 | ILLUMINA | ss536574317 | Sep 08, 2015 (146) |
35 | TISHKOFF | ss561067571 | Apr 25, 2013 (138) |
36 | SSMP | ss655502053 | Apr 25, 2013 (138) |
37 | ILLUMINA | ss778346665 | Sep 08, 2015 (146) |
38 | ILLUMINA | ss782642322 | Sep 08, 2015 (146) |
39 | ILLUMINA | ss783611729 | Sep 08, 2015 (146) |
40 | ILLUMINA | ss825328017 | Jul 19, 2016 (147) |
41 | ILLUMINA | ss831892537 | Sep 08, 2015 (146) |
42 | ILLUMINA | ss832620761 | Jul 13, 2019 (153) |
43 | ILLUMINA | ss833801326 | Sep 08, 2015 (146) |
44 | EVA-GONL | ss986053215 | Aug 21, 2014 (142) |
45 | JMKIDD_LAB | ss1075914259 | Aug 21, 2014 (142) |
46 | 1000GENOMES | ss1331897834 | Aug 21, 2014 (142) |
47 | DDI | ss1431669534 | Apr 01, 2015 (144) |
48 | EVA_GENOME_DK | ss1582884137 | Apr 01, 2015 (144) |
49 | EVA_DECODE | ss1595669204 | Apr 01, 2015 (144) |
50 | EVA_UK10K_ALSPAC | ss1621721744 | Apr 01, 2015 (144) |
51 | EVA_UK10K_TWINSUK | ss1664715777 | Apr 01, 2015 (144) |
52 | EVA_SVP | ss1713070694 | Apr 01, 2015 (144) |
53 | ILLUMINA | ss1752711911 | Sep 08, 2015 (146) |
54 | HAMMER_LAB | ss1805759677 | Sep 08, 2015 (146) |
55 | WEILL_CORNELL_DGM | ss1929326087 | Feb 12, 2016 (147) |
56 | ILLUMINA | ss1946246739 | Feb 12, 2016 (147) |
57 | ILLUMINA | ss1959142811 | Feb 12, 2016 (147) |
58 | GENOMED | ss1971092734 | Jul 19, 2016 (147) |
59 | JJLAB | ss2025366531 | Sep 14, 2016 (149) |
60 | ILLUMINA | ss2094834312 | Dec 20, 2016 (150) |
61 | ILLUMINA | ss2095214960 | Dec 20, 2016 (150) |
62 | USC_VALOUEV | ss2153595197 | Dec 20, 2016 (150) |
63 | HUMAN_LONGEVITY | ss2307349793 | Dec 20, 2016 (150) |
64 | SYSTEMSBIOZJU | ss2627158047 | Nov 08, 2017 (151) |
65 | ILLUMINA | ss2634803251 | Nov 08, 2017 (151) |
66 | ILLUMINA | ss2635187678 | Nov 08, 2017 (151) |
67 | GRF | ss2709381870 | Nov 08, 2017 (151) |
68 | ILLUMINA | ss2711148814 | Nov 08, 2017 (151) |
69 | GNOMAD | ss2872660966 | Nov 08, 2017 (151) |
70 | SWEGEN | ss3003992344 | Nov 08, 2017 (151) |
71 | ILLUMINA | ss3022883063 | Nov 08, 2017 (151) |
72 | BIOINF_KMB_FNS_UNIBA | ss3026468898 | Nov 08, 2017 (151) |
73 | CSHL | ss3348403248 | Nov 08, 2017 (151) |
74 | ILLUMINA | ss3625970673 | Oct 12, 2018 (152) |
75 | ILLUMINA | ss3630157925 | Oct 12, 2018 (152) |
76 | ILLUMINA | ss3632699479 | Oct 12, 2018 (152) |
77 | ILLUMINA | ss3633515792 | Oct 12, 2018 (152) |
78 | ILLUMINA | ss3634243164 | Oct 12, 2018 (152) |
79 | ILLUMINA | ss3635190391 | Oct 12, 2018 (152) |
80 | ILLUMINA | ss3635921595 | Oct 12, 2018 (152) |
81 | ILLUMINA | ss3636931282 | Oct 12, 2018 (152) |
82 | ILLUMINA | ss3637674830 | Oct 12, 2018 (152) |
83 | ILLUMINA | ss3638786009 | Oct 12, 2018 (152) |
84 | ILLUMINA | ss3639395898 | Oct 12, 2018 (152) |
85 | ILLUMINA | ss3639728989 | Oct 12, 2018 (152) |
86 | ILLUMINA | ss3640897682 | Oct 12, 2018 (152) |
87 | ILLUMINA | ss3641234898 | Oct 12, 2018 (152) |
88 | ILLUMINA | ss3641532666 | Oct 12, 2018 (152) |
89 | ILLUMINA | ss3643715110 | Oct 12, 2018 (152) |
90 | ILLUMINA | ss3644980010 | Oct 12, 2018 (152) |
91 | ILLUMINA | ss3653429292 | Oct 12, 2018 (152) |
92 | EGCUT_WGS | ss3671715420 | Jul 13, 2019 (153) |
93 | EVA_DECODE | ss3723000340 | Jul 13, 2019 (153) |
94 | ILLUMINA | ss3726571899 | Jul 13, 2019 (153) |
95 | ACPOP | ss3736097923 | Jul 13, 2019 (153) |
96 | ILLUMINA | ss3744312452 | Jul 13, 2019 (153) |
97 | ILLUMINA | ss3745490258 | Jul 13, 2019 (153) |
98 | EVA | ss3768603740 | Jul 13, 2019 (153) |
99 | PAGE_CC | ss3771469138 | Jul 13, 2019 (153) |
100 | ILLUMINA | ss3772982573 | Jul 13, 2019 (153) |
101 | PACBIO | ss3786278786 | Jul 13, 2019 (153) |
102 | PACBIO | ss3791512053 | Jul 13, 2019 (153) |
103 | PACBIO | ss3796393599 | Jul 13, 2019 (153) |
104 | KHV_HUMAN_GENOMES | ss3811769765 | Jul 13, 2019 (153) |
105 | EVA | ss3831412785 | Apr 26, 2020 (154) |
106 | EVA | ss3839215791 | Apr 26, 2020 (154) |
107 | EVA | ss3844676255 | Apr 26, 2020 (154) |
108 | HGDP | ss3847929816 | Apr 26, 2020 (154) |
109 | SGDP_PRJ | ss3870987718 | Apr 26, 2020 (154) |
110 | KRGDB | ss3918588325 | Apr 26, 2020 (154) |
111 | EVA | ss3984612028 | Apr 26, 2021 (155) |
112 | EVA | ss3985388801 | Apr 26, 2021 (155) |
113 | EVA | ss4017413893 | Apr 26, 2021 (155) |
114 | TOPMED | ss4804104416 | Apr 26, 2021 (155) |
115 | TOMMO_GENOMICS | ss5190983444 | Apr 26, 2021 (155) |
116 | 1000G_HIGH_COVERAGE | ss5278929827 | Oct 16, 2022 (156) |
117 | EVA | ss5315363486 | Oct 16, 2022 (156) |
118 | EVA | ss5384435270 | Oct 16, 2022 (156) |
119 | HUGCELL_USP | ss5475313052 | Oct 16, 2022 (156) |
120 | EVA | ss5509550557 | Oct 16, 2022 (156) |
121 | 1000G_HIGH_COVERAGE | ss5570255187 | Oct 16, 2022 (156) |
122 | SANFORD_IMAGENETICS | ss5646407282 | Oct 16, 2022 (156) |
123 | TOMMO_GENOMICS | ss5733703604 | Oct 16, 2022 (156) |
124 | EVA | ss5799768911 | Oct 16, 2022 (156) |
125 | YY_MCH | ss5810130711 | Oct 16, 2022 (156) |
126 | EVA | ss5831219137 | Oct 16, 2022 (156) |
127 | EVA | ss5856570748 | Oct 16, 2022 (156) |
128 | EVA | ss5891014963 | Oct 16, 2022 (156) |
129 | EVA | ss5975658364 | Oct 16, 2022 (156) |
130 | 1000Genomes | NC_000008.10 - 128011937 | Oct 12, 2018 (152) |
131 | 1000Genomes_30x | NC_000008.11 - 126999692 | Oct 16, 2022 (156) |
132 | The Avon Longitudinal Study of Parents and Children | NC_000008.10 - 128011937 | Oct 12, 2018 (152) |
133 | Genetic variation in the Estonian population | NC_000008.10 - 128011937 | Oct 12, 2018 (152) |
134 | The Danish reference pan genome | NC_000008.10 - 128011937 | Apr 26, 2020 (154) |
135 | gnomAD - Genomes | NC_000008.11 - 126999692 | Apr 26, 2021 (155) |
136 | Genome of the Netherlands Release 5 | NC_000008.10 - 128011937 | Apr 26, 2020 (154) |
137 | HGDP-CEPH-db Supplement 1 | NC_000008.9 - 128081119 | Apr 26, 2020 (154) |
138 | HapMap | NC_000008.11 - 126999692 | Apr 26, 2020 (154) |
139 | KOREAN population from KRGDB | NC_000008.10 - 128011937 | Apr 26, 2020 (154) |
140 | Northern Sweden | NC_000008.10 - 128011937 | Jul 13, 2019 (153) |
141 | The PAGE Study | NC_000008.11 - 126999692 | Jul 13, 2019 (153) |
142 | Ancient Sardinia genome-wide 1240k capture data generation and analysis | NC_000008.10 - 128011937 | Apr 26, 2021 (155) |
143 | CNV burdens in cranial meningiomas | NC_000008.10 - 128011937 | Apr 26, 2021 (155) |
144 | Qatari | NC_000008.10 - 128011937 | Apr 26, 2020 (154) |
145 | SGDP_PRJ | NC_000008.10 - 128011937 | Apr 26, 2020 (154) |
146 | Siberian | NC_000008.10 - 128011937 | Apr 26, 2020 (154) |
147 | 8.3KJPN | NC_000008.10 - 128011937 | Apr 26, 2021 (155) |
148 | 14KJPN | NC_000008.11 - 126999692 | Oct 16, 2022 (156) |
149 | TopMed | NC_000008.11 - 126999692 | Apr 26, 2021 (155) |
150 | UK 10K study - Twins | NC_000008.10 - 128011937 | Oct 12, 2018 (152) |
151 | A Vietnamese Genetic Variation Database | NC_000008.10 - 128011937 | Jul 13, 2019 (153) |
152 | ALFA | NC_000008.11 - 126999692 | 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) |
---|---|
rs58276021 | May 24, 2008 (130) |
Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
---|---|---|---|
607708, ss113754111, ss162784814, ss165712229, ss167123078, ss199767730, ss206488414, ss280002462, ss479181808, ss825328017, ss1595669204, ss1713070694, ss2635187678, ss3639395898, ss3639728989, ss3643715110, ss3847929816 | NC_000008.9:128081118:T:C | NC_000008.11:126999691:T:C | (self) |
44096775, 24535359, 17453668, 9049074, 10949076, 25765719, 9382788, 614728, 161467, 11368017, 23004698, 6111551, 48952751, 24535359, 5450222, ss223976857, ss234626048, ss241440269, ss479183947, ss479511766, ss484391926, ss536574317, ss561067571, ss655502053, ss778346665, ss782642322, ss783611729, ss831892537, ss832620761, ss833801326, ss986053215, ss1075914259, ss1331897834, ss1431669534, ss1582884137, ss1621721744, ss1664715777, ss1752711911, ss1805759677, ss1929326087, ss1946246739, ss1959142811, ss1971092734, ss2025366531, ss2094834312, ss2095214960, ss2153595197, ss2627158047, ss2634803251, ss2709381870, ss2711148814, ss2872660966, ss3003992344, ss3022883063, ss3348403248, ss3625970673, ss3630157925, ss3632699479, ss3633515792, ss3634243164, ss3635190391, ss3635921595, ss3636931282, ss3637674830, ss3638786009, ss3640897682, ss3641234898, ss3641532666, ss3644980010, ss3653429292, ss3671715420, ss3736097923, ss3744312452, ss3745490258, ss3768603740, ss3772982573, ss3786278786, ss3791512053, ss3796393599, ss3831412785, ss3839215791, ss3870987718, ss3918588325, ss3984612028, ss3985388801, ss4017413893, ss5190983444, ss5315363486, ss5384435270, ss5509550557, ss5646407282, ss5799768911, ss5831219137, ss5975658364 | NC_000008.10:128011936:T:C | NC_000008.11:126999691:T:C | (self) |
57781122, 311061694, 3724052, 690607, 67540708, 641481976, 7706070798, ss2307349793, ss3026468898, ss3723000340, ss3726571899, ss3771469138, ss3811769765, ss3844676255, ss4804104416, ss5278929827, ss5475313052, ss5570255187, ss5733703604, ss5810130711, ss5856570748, ss5891014963 | NC_000008.11:126999691:T:C | NC_000008.11:126999691:T:C | (self) |
ss13942530 | NT_008046.14:41230115:T:C | NC_000008.11:126999691:T:C | (self) |
ss23515924, ss66696821, ss66868603, ss66943384, ss70358286, ss70464047, ss70985124, ss75634107, ss84901726, ss104574341, ss121261627, ss152563874, ss156878390, ss159107988, ss159861339, ss169250221, ss169641625, ss469414532 | NT_008046.16:41285485:T:C | NC_000008.11:126999691:T: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 |
---|---|---|---|---|
17978284 | Confirmation study of prostate cancer risk variants at 8q24 in African Americans identifies a novel risk locus. | Robbins C et al. | 2007 | Genome research |
18670647 | Homozygous deletions and recurrent amplifications implicate new genes involved in prostate cancer. | Liu W et al. | 2008 | Neoplasia (New York, N.Y.) |
19549807 | Prostate cancer risk associated loci in African Americans. | Xu J et al. | 2009 | Cancer epidemiology, biomarkers & prevention |
20564319 | Prostate cancer risk-associated variants reported from genome-wide association studies: meta-analysis and their contribution to genetic Variation. | Kim ST et al. | 2010 | The Prostate |
20667146 | Prostate cancer genomics: can we distinguish between indolent and fatal disease using genetic markers? | Wiklund F et al. | 2010 | Genome medicine |
20818410 | In vivo exploration of the functional activity of the non-coding 8q24 prostate cancer risk locus. | Lamb DJ et al. | 2010 | Asian journal of andrology |
21071540 | Validation of genome-wide prostate cancer associations in men of African descent. | Chang BL et al. | 2011 | Cancer epidemiology, biomarkers & prevention |
21295399 | Polygenic risk score improves prostate cancer risk prediction: results from the Stockholm-1 cohort study. | Aly M et al. | 2011 | European urology |
21468051 | Polygenic susceptibility to prostate and breast cancer: implications for personalised screening. | Pashayan N et al. | 2011 | British journal of cancer |
21541972 | Functional annotation of risk loci identified through genome-wide association studies for prostate cancer. | Lu Y et al. | 2011 | The Prostate |
21637779 | Characterizing genetic risk at known prostate cancer susceptibility loci in African Americans. | Haiman CA et al. | 2011 | PLoS genetics |
21756274 | Systematic confirmation study of reported prostate cancer risk-associated single nucleotide polymorphisms in Chinese men. | Liu F et al. | 2011 | Cancer science |
21769933 | A risk prediction algorithm based on family history and common genetic variants: application to prostate cancer with potential clinical impact. | Macinnis RJ et al. | 2011 | Genetic epidemiology |
21820706 | Prostate cancer risk alleles and their associations with other malignancies. | Cooper PR et al. | 2011 | Urology |
21856995 | Human polymorphisms at long non-coding RNAs (lncRNAs) and association with prostate cancer risk. | Jin G et al. | 2011 | Carcinogenesis |
22101116 | Evaluation of multiple risk-associated single nucleotide polymorphisms versus prostate-specific antigen at baseline to predict prostate cancer in unscreened men. | Klein RJ et al. | 2012 | European urology |
22181854 | Prostate cancer genomics, biology, and risk assessment through genome-wide association studies. | Nakagawa H et al. | 2012 | Cancer science |
22219177 | A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants. | Tao S et al. | 2012 | Carcinogenesis |
22985493 | Common genetic variants associated with disease from genome-wide association studies are mutually exclusive in prostate cancer and rheumatoid arthritis. | Orozco G et al. | 2013 | BJU international |
23071574 | Reproducibility, performance, and clinical utility of a genetic risk prediction model for prostate cancer in Japanese. | Akamatsu S et al. | 2012 | PloS one |
23573233 | Characterization of SNPs associated with prostate cancer in men of Ashkenazic descent from the set of GWAS identified SNPs: impact of cancer family history and cumulative SNP risk prediction. | Agalliu I et al. | 2013 | PloS one |
24038036 | Evaluation of reported prostate cancer risk-associated SNPs from genome-wide association studies of various racial populations in Chinese men. | Na R et al. | 2013 | The Prostate |
24497837 | Comprehensive functional annotation of 77 prostate cancer risk loci. | Hazelett DJ et al. | 2014 | PLoS genetics |
24701578 | The role of single nucleotide polymorphisms in predicting prostate cancer risk and therapeutic decision making. | Van den Broeck T et al. | 2014 | BioMed research international |
24740154 | Genome-wide association scan for variants associated with early-onset prostate cancer. | Lange EM et al. | 2014 | PloS one |
25560306 | Known susceptibility SNPs for sporadic prostate cancer show a similar association with "hereditary" prostate cancer. | Cremers RG et al. | 2015 | The Prostate |
26828504 | The Cumulative Effect of Gene-Gene and Gene-Environment Interactions on the Risk of Prostate Cancer in Chinese Men. | Liu M et al. | 2016 | International journal of environmental research and public health |
26966665 | An examination of clinical differences between carriers and non-carriers of chromosome 8q24 risk alleles in a New Zealand Caucasian population with prostate cancer. | Bishop KS et al. | 2016 | PeerJ |
27070714 | Common genetic variation associated with increased susceptibility to prostate cancer does not increase risk of radiotherapy toxicity. | Ahmed M et al. | 2016 | British journal of cancer |
28139693 | Genome-wide association study of prostate-specific antigen levels identifies novel loci independent of prostate cancer. | Hoffmann TJ et al. | 2017 | Nature communications |
30937291 | The incidence, mortality, and risk factors of prostate cancer in Asian men. | Ha Chung B et al. | 2019 | Prostate international |
32590746 | Cumulative evidence of relationships between multiple variants in 8q24 region and cancer incidence. | Tong Y et al. | 2020 | Medicine |
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.