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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.

rs1054480

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr5:179113974 (GRCh38.p13) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
G>A
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.293258 (104583/356624, ALFA)
A=0.243247 (64385/264690, TOPMED)
A=0.308062 (77472/251482, GnomAD_exome) (+ 25 more)
A=0.236823 (33158/140012, GnomAD)
A=0.299834 (36398/121394, ExAC)
A=0.22290 (17542/78700, PAGE_STUDY)
A=0.39326 (6591/16760, 8.3KJPN)
A=0.22174 (2884/13006, GO-ESP)
A=0.2638 (1321/5008, 1000G)
A=0.2963 (1327/4478, Estonian)
A=0.2805 (1081/3854, ALSPAC)
A=0.2972 (1102/3708, TWINSUK)
A=0.3843 (1126/2930, KOREAN)
A=0.2889 (602/2084, HGDP_Stanford)
A=0.2257 (427/1892, HapMap)
A=0.3717 (681/1832, Korea1K)
A=0.2956 (334/1130, Daghestan)
A=0.285 (284/998, GoNL)
A=0.276 (218/790, PRJEB37584)
A=0.306 (187/612, Vietnamese)
A=0.310 (186/600, NorthernSweden)
A=0.287 (153/534, MGP)
A=0.299 (91/304, FINRISK)
G=0.398 (109/274, SGDP_PRJ)
A=0.319 (69/216, Qatari)
A=0.25 (20/80, Ancient Sardinia)
A=0.12 (5/40, GENOME_DK)
G=0.47 (16/34, Siberian)
Clinical Significance
Reported in ClinVar
Gene : Consequence
ADAMTS2 : Missense Variant
Publications
1 citation
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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 356624 G=0.706742 A=0.293258
European Sub 301926 G=0.702828 A=0.297172
African Sub 11528 G=0.91325 A=0.08675
African Others Sub 410 G=0.971 A=0.029
African American Sub 11118 G=0.91114 A=0.08886
Asian Sub 6928 G=0.6904 A=0.3096
East Asian Sub 4960 G=0.6661 A=0.3339
Other Asian Sub 1968 G=0.7515 A=0.2485
Latin American 1 Sub 1488 G=0.7426 A=0.2574
Latin American 2 Sub 7244 G=0.5917 A=0.4083
South Asian Sub 5226 G=0.6458 A=0.3542
Other Sub 22284 G=0.70732 A=0.29268


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
Allele Frequency Aggregator Total Global 356624 G=0.706742 A=0.293258
Allele Frequency Aggregator European Sub 301926 G=0.702828 A=0.297172
Allele Frequency Aggregator Other Sub 22284 G=0.70732 A=0.29268
Allele Frequency Aggregator African Sub 11528 G=0.91325 A=0.08675
Allele Frequency Aggregator Latin American 2 Sub 7244 G=0.5917 A=0.4083
Allele Frequency Aggregator Asian Sub 6928 G=0.6904 A=0.3096
Allele Frequency Aggregator South Asian Sub 5226 G=0.6458 A=0.3542
Allele Frequency Aggregator Latin American 1 Sub 1488 G=0.7426 A=0.2574
TopMed Global Study-wide 264690 G=0.756753 A=0.243247
gnomAD - Exomes Global Study-wide 251482 G=0.691938 A=0.308062
gnomAD - Exomes European Sub 135410 G=0.705502 A=0.294498
gnomAD - Exomes Asian Sub 49008 G=0.64883 A=0.35117
gnomAD - Exomes American Sub 34588 G=0.59162 A=0.40838
gnomAD - Exomes African Sub 16256 G=0.92606 A=0.07394
gnomAD - Exomes Ashkenazi Jewish Sub 10080 G=0.68780 A=0.31220
gnomAD - Exomes Other Sub 6140 G=0.6889 A=0.3111
gnomAD - Genomes Global Study-wide 140012 G=0.763177 A=0.236823
gnomAD - Genomes European Sub 75816 G=0.70599 A=0.29401
gnomAD - Genomes African Sub 41972 G=0.91773 A=0.08227
gnomAD - Genomes American Sub 13636 G=0.64652 A=0.35348
gnomAD - Genomes Ashkenazi Jewish Sub 3322 G=0.6893 A=0.3107
gnomAD - Genomes East Asian Sub 3120 G=0.6878 A=0.3122
gnomAD - Genomes Other Sub 2146 G=0.7260 A=0.2740
ExAC Global Study-wide 121394 G=0.700166 A=0.299834
ExAC Europe Sub 73346 G=0.70425 A=0.29575
ExAC Asian Sub 25158 G=0.64639 A=0.35361
ExAC American Sub 11576 G=0.59131 A=0.40869
ExAC African Sub 10406 G=0.92562 A=0.07438
ExAC Other Sub 908 G=0.664 A=0.336
The PAGE Study Global Study-wide 78700 G=0.77710 A=0.22290
The PAGE Study AfricanAmerican Sub 32516 G=0.90946 A=0.09054
The PAGE Study Mexican Sub 10810 G=0.60490 A=0.39510
The PAGE Study Asian Sub 8318 G=0.6451 A=0.3549
The PAGE Study PuertoRican Sub 7918 G=0.7294 A=0.2706
The PAGE Study NativeHawaiian Sub 4534 G=0.8088 A=0.1912
The PAGE Study Cuban Sub 4228 G=0.7207 A=0.2793
The PAGE Study Dominican Sub 3828 G=0.7999 A=0.2001
The PAGE Study CentralAmerican Sub 2450 G=0.6253 A=0.3747
The PAGE Study SouthAmerican Sub 1982 G=0.5797 A=0.4203
The PAGE Study NativeAmerican Sub 1260 G=0.7206 A=0.2794
The PAGE Study SouthAsian Sub 856 G=0.632 A=0.368
8.3KJPN JAPANESE Study-wide 16760 G=0.60674 A=0.39326
GO Exome Sequencing Project Global Study-wide 13006 G=0.77826 A=0.22174
GO Exome Sequencing Project European American Sub 8600 G=0.7062 A=0.2938
GO Exome Sequencing Project African American Sub 4406 G=0.9190 A=0.0810
1000Genomes Global Study-wide 5008 G=0.7362 A=0.2638
1000Genomes African Sub 1322 G=0.9599 A=0.0401
1000Genomes East Asian Sub 1008 G=0.6895 A=0.3105
1000Genomes Europe Sub 1006 G=0.7048 A=0.2952
1000Genomes South Asian Sub 978 G=0.599 A=0.401
1000Genomes American Sub 694 G=0.617 A=0.383
Genetic variation in the Estonian population Estonian Study-wide 4478 G=0.7037 A=0.2963
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.7195 A=0.2805
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.7028 A=0.2972
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.6157 A=0.3843
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 G=0.7111 A=0.2889
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 G=0.664 A=0.336
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 G=0.737 A=0.263
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 G=0.686 A=0.314
HGDP-CEPH-db Supplement 1 Europe Sub 320 G=0.722 A=0.278
HGDP-CEPH-db Supplement 1 Africa Sub 242 G=0.905 A=0.095
HGDP-CEPH-db Supplement 1 America Sub 216 G=0.514 A=0.486
HGDP-CEPH-db Supplement 1 Oceania Sub 72 G=0.89 A=0.11
HapMap Global Study-wide 1892 G=0.7743 A=0.2257
HapMap American Sub 770 G=0.708 A=0.292
HapMap African Sub 692 G=0.922 A=0.078
HapMap Asian Sub 254 G=0.654 A=0.346
HapMap Europe Sub 176 G=0.659 A=0.341
Korean Genome Project KOREAN Study-wide 1832 G=0.6283 A=0.3717
Genome-wide autozygosity in Daghestan Global Study-wide 1130 G=0.7044 A=0.2956
Genome-wide autozygosity in Daghestan Daghestan Sub 624 G=0.720 A=0.280
Genome-wide autozygosity in Daghestan Near_East Sub 144 G=0.694 A=0.306
Genome-wide autozygosity in Daghestan Central Asia Sub 120 G=0.650 A=0.350
Genome-wide autozygosity in Daghestan Europe Sub 108 G=0.694 A=0.306
Genome-wide autozygosity in Daghestan South Asian Sub 98 G=0.70 A=0.30
Genome-wide autozygosity in Daghestan Caucasus Sub 36 G=0.69 A=0.31
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.715 A=0.285
CNV burdens in cranial meningiomas Global Study-wide 790 G=0.724 A=0.276
CNV burdens in cranial meningiomas CRM Sub 790 G=0.724 A=0.276
A Vietnamese Genetic Variation Database Global Study-wide 612 G=0.694 A=0.306
Northern Sweden ACPOP Study-wide 600 G=0.690 A=0.310
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 G=0.713 A=0.287
FINRISK Finnish from FINRISK project Study-wide 304 G=0.701 A=0.299
SGDP_PRJ Global Study-wide 274 G=0.398 A=0.602
Qatari Global Study-wide 216 G=0.681 A=0.319
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 80 G=0.75 A=0.25
The Danish reference pan genome Danish Study-wide 40 G=0.88 A=0.12
Siberian Global Study-wide 34 G=0.47 A=0.53
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.p13 chr 5 NC_000005.10:g.179113974G>A
GRCh37.p13 chr 5 NC_000005.9:g.178540975G>A
ADAMTS2 RefSeqGene NG_023212.3:g.236355C>T
Gene: ADAMTS2, ADAM metallopeptidase with thrombospondin type 1 motif 2 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ADAMTS2 transcript variant 2 NM_021599.4:c. N/A Genic Downstream Transcript Variant
ADAMTS2 transcript variant 1 NM_014244.5:c.3529C>T P [CCC] > S [TCC] Coding Sequence Variant
A disintegrin and metalloproteinase with thrombospondin motifs 2 isoform 1 preproprotein NP_055059.2:p.Pro1177Ser P (Pro) > S (Ser) 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: A (allele ID: 299168 )
ClinVar Accession Disease Names Clinical Significance
RCV000299782.5 Ehlers-Danlos syndrome dermatosparaxis type Benign
RCV000422671.1 not specified 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= A
GRCh38.p13 chr 5 NC_000005.10:g.179113974= NC_000005.10:g.179113974G>A
GRCh37.p13 chr 5 NC_000005.9:g.178540975= NC_000005.9:g.178540975G>A
ADAMTS2 RefSeqGene NG_023212.3:g.236355= NG_023212.3:g.236355C>T
ADAMTS2 transcript variant 1 NM_014244.5:c.3529= NM_014244.5:c.3529C>T
ADAMTS2 transcript variant 1 NM_014244.4:c.3529= NM_014244.4:c.3529C>T
A disintegrin and metalloproteinase with thrombospondin motifs 2 isoform 1 preproprotein NP_055059.2:p.Pro1177= NP_055059.2:p.Pro1177Ser
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#.

146 SubSNP, 28 Frequency, 2 ClinVar submissions
No Submitter Submission ID Date (Build)
1 LEE ss1532456 Oct 05, 2000 (86)
2 YUSUKE ss3250293 Sep 28, 2001 (100)
3 CGAP-GAI ss4321429 Jan 04, 2002 (102)
4 LEE ss4421493 May 29, 2002 (106)
5 PERLEGEN ss24377049 Sep 20, 2004 (123)
6 APPLERA_GI ss48409319 Mar 14, 2006 (126)
7 ILLUMINA ss65724758 Oct 15, 2006 (127)
8 ILLUMINA ss66570975 Nov 30, 2006 (127)
9 ILLUMINA ss66896221 Nov 30, 2006 (127)
10 ILLUMINA ss67005953 Nov 30, 2006 (127)
11 PERLEGEN ss68961012 May 17, 2007 (127)
12 ILLUMINA ss70376851 May 17, 2007 (127)
13 ILLUMINA ss70492270 May 24, 2008 (130)
14 ILLUMINA ss71016936 May 17, 2007 (127)
15 AFFY ss74808576 Aug 16, 2007 (128)
16 ILLUMINA ss74953414 Dec 07, 2007 (129)
17 HGSV ss77329251 Dec 07, 2007 (129)
18 KRIBB_YJKIM ss83674757 Dec 15, 2007 (130)
19 CANCER-GENOME ss86343186 Mar 23, 2008 (129)
20 BGI ss104268739 Dec 01, 2009 (131)
21 ILLUMINA ss120037136 Dec 01, 2009 (131)
22 ILLUMINA ss121371785 Dec 01, 2009 (131)
23 ILLUMINA ss152794740 Dec 01, 2009 (131)
24 GMI ss156401326 Dec 01, 2009 (131)
25 ILLUMINA ss159137076 Dec 01, 2009 (131)
26 SEATTLESEQ ss159710992 Dec 01, 2009 (131)
27 ILLUMINA ss159910490 Dec 01, 2009 (131)
28 COMPLETE_GENOMICS ss162941822 Jul 04, 2010 (132)
29 COMPLETE_GENOMICS ss167417681 Jul 04, 2010 (132)
30 ILLUMINA ss169568260 Jul 04, 2010 (132)
31 ILLUMINA ss170381124 Jul 04, 2010 (132)
32 1000GENOMES ss222148668 Jul 14, 2010 (132)
33 1000GENOMES ss233279561 Jul 14, 2010 (132)
34 1000GENOMES ss240374814 Jul 15, 2010 (132)
35 GMI ss278609817 May 04, 2012 (137)
36 GMI ss285319586 Apr 25, 2013 (138)
37 NHLBI-ESP ss342198901 May 09, 2011 (134)
38 ILLUMINA ss479318551 May 04, 2012 (137)
39 ILLUMINA ss479321782 May 04, 2012 (137)
40 ILLUMINA ss479707846 Sep 08, 2015 (146)
41 ILLUMINA ss484459592 May 04, 2012 (137)
42 1000GENOMES ss490917591 May 04, 2012 (137)
43 EXOME_CHIP ss491376519 May 04, 2012 (137)
44 CLINSEQ_SNP ss491879205 May 04, 2012 (137)
45 ILLUMINA ss536624258 Sep 08, 2015 (146)
46 TISHKOFF ss558929394 Apr 25, 2013 (138)
47 SSMP ss652840472 Apr 25, 2013 (138)
48 ILLUMINA ss778361508 Aug 21, 2014 (142)
49 ILLUMINA ss780844656 Sep 08, 2015 (146)
50 ILLUMINA ss782676355 Aug 21, 2014 (142)
51 ILLUMINA ss783644988 Aug 21, 2014 (142)
52 ILLUMINA ss825346462 Apr 01, 2015 (144)
53 ILLUMINA ss831927095 Apr 01, 2015 (144)
54 ILLUMINA ss832649736 Aug 21, 2014 (142)
55 ILLUMINA ss833240425 Aug 21, 2014 (142)
56 ILLUMINA ss833816287 Aug 21, 2014 (142)
57 EVA-GONL ss982472967 Aug 21, 2014 (142)
58 JMKIDD_LAB ss1067474423 Aug 21, 2014 (142)
59 JMKIDD_LAB ss1073300169 Aug 21, 2014 (142)
60 1000GENOMES ss1318559755 Aug 21, 2014 (142)
61 HAMMER_LAB ss1397437535 Sep 08, 2015 (146)
62 DDI ss1430602302 Apr 01, 2015 (144)
63 EVA_GENOME_DK ss1581487176 Apr 01, 2015 (144)
64 EVA_FINRISK ss1584043136 Apr 01, 2015 (144)
65 EVA_DECODE ss1592016830 Apr 01, 2015 (144)
66 EVA_UK10K_ALSPAC ss1614731068 Apr 01, 2015 (144)
67 EVA_UK10K_TWINSUK ss1657725101 Apr 01, 2015 (144)
68 EVA_EXAC ss1688119878 Apr 01, 2015 (144)
69 EVA_MGP ss1711108712 Apr 01, 2015 (144)
70 EVA_SVP ss1712826707 Apr 01, 2015 (144)
71 ILLUMINA ss1752567074 Sep 08, 2015 (146)
72 ILLUMINA ss1752567075 Sep 08, 2015 (146)
73 HAMMER_LAB ss1804228983 Sep 08, 2015 (146)
74 ILLUMINA ss1917798290 Feb 12, 2016 (147)
75 WEILL_CORNELL_DGM ss1925727365 Feb 12, 2016 (147)
76 ILLUMINA ss1946164732 Feb 12, 2016 (147)
77 ILLUMINA ss1958852256 Feb 12, 2016 (147)
78 GENOMED ss1970284834 Jul 19, 2016 (147)
79 JJLAB ss2023477865 Sep 14, 2016 (149)
80 USC_VALOUEV ss2151638042 Dec 20, 2016 (150)
81 HUMAN_LONGEVITY ss2280948576 Dec 20, 2016 (150)
82 TOPMED ss2449299822 Dec 20, 2016 (150)
83 SYSTEMSBIOZJU ss2626226962 Nov 08, 2017 (151)
84 ILLUMINA ss2634384426 Nov 08, 2017 (151)
85 GRF ss2707219541 Nov 08, 2017 (151)
86 GNOMAD ss2735478535 Nov 08, 2017 (151)
87 GNOMAD ss2747527415 Nov 08, 2017 (151)
88 GNOMAD ss2834634488 Nov 08, 2017 (151)
89 AFFY ss2985349807 Nov 08, 2017 (151)
90 AFFY ss2985978884 Nov 08, 2017 (151)
91 SWEGEN ss2998342009 Nov 08, 2017 (151)
92 ILLUMINA ss3022563326 Nov 08, 2017 (151)
93 EVA_SAMSUNG_MC ss3023061710 Nov 08, 2017 (151)
94 BIOINF_KMB_FNS_UNIBA ss3025521442 Nov 08, 2017 (151)
95 CSHL ss3346782560 Nov 08, 2017 (151)
96 TOPMED ss3487514599 Nov 08, 2017 (151)
97 ILLUMINA ss3629418046 Oct 12, 2018 (152)
98 ILLUMINA ss3629418047 Oct 12, 2018 (152)
99 ILLUMINA ss3632305517 Oct 12, 2018 (152)
100 ILLUMINA ss3634123714 Oct 12, 2018 (152)
101 ILLUMINA ss3635038956 Oct 12, 2018 (152)
102 ILLUMINA ss3635038957 Oct 12, 2018 (152)
103 ILLUMINA ss3635805155 Oct 12, 2018 (152)
104 ILLUMINA ss3636752894 Oct 12, 2018 (152)
105 ILLUMINA ss3637557855 Oct 12, 2018 (152)
106 ILLUMINA ss3638600460 Oct 12, 2018 (152)
107 ILLUMINA ss3639302733 Oct 12, 2018 (152)
108 ILLUMINA ss3639676147 Oct 12, 2018 (152)
109 ILLUMINA ss3640746250 Oct 12, 2018 (152)
110 ILLUMINA ss3640746251 Oct 12, 2018 (152)
111 ILLUMINA ss3643542822 Oct 12, 2018 (152)
112 ILLUMINA ss3644897789 Oct 12, 2018 (152)
113 OMUKHERJEE_ADBS ss3646329054 Oct 12, 2018 (152)
114 ILLUMINA ss3653070501 Oct 12, 2018 (152)
115 ILLUMINA ss3654118280 Oct 12, 2018 (152)
116 EGCUT_WGS ss3666267955 Jul 13, 2019 (153)
117 EVA_DECODE ss3716370710 Jul 13, 2019 (153)
118 ILLUMINA ss3726300658 Jul 13, 2019 (153)
119 ACPOP ss3733108772 Jul 13, 2019 (153)
120 ILLUMINA ss3744544584 Jul 13, 2019 (153)
121 ILLUMINA ss3745339094 Jul 13, 2019 (153)
122 ILLUMINA ss3745339095 Jul 13, 2019 (153)
123 EVA ss3764480194 Jul 13, 2019 (153)
124 PAGE_CC ss3771254545 Jul 13, 2019 (153)
125 ILLUMINA ss3772832939 Jul 13, 2019 (153)
126 ILLUMINA ss3772832940 Jul 13, 2019 (153)
127 KHV_HUMAN_GENOMES ss3807642301 Jul 13, 2019 (153)
128 EVA ss3824147251 Apr 26, 2020 (154)
129 EVA ss3825522958 Apr 26, 2020 (154)
130 EVA ss3825687554 Apr 26, 2020 (154)
131 EVA ss3829674104 Apr 26, 2020 (154)
132 EVA ss3838311136 Apr 26, 2020 (154)
133 HGDP ss3847818675 Apr 26, 2020 (154)
134 SGDP_PRJ ss3863688817 Apr 26, 2020 (154)
135 KRGDB ss3910413327 Apr 26, 2020 (154)
136 KOGIC ss3958290710 Apr 26, 2020 (154)
137 FSA-LAB ss3984325719 Apr 26, 2021 (155)
138 FSA-LAB ss3984325720 Apr 26, 2021 (155)
139 EVA ss3984559701 Apr 26, 2021 (155)
140 EVA ss3985192316 Apr 26, 2021 (155)
141 EVA ss3986033002 Apr 26, 2021 (155)
142 EVA ss3986332034 Apr 26, 2021 (155)
143 EVA ss4017249250 Apr 26, 2021 (155)
144 TOPMED ss4690326959 Apr 26, 2021 (155)
145 TOMMO_GENOMICS ss5175683441 Apr 26, 2021 (155)
146 EVA ss5237018874 Apr 26, 2021 (155)
147 1000Genomes NC_000005.9 - 178540975 Oct 12, 2018 (152)
148 The Avon Longitudinal Study of Parents and Children NC_000005.9 - 178540975 Oct 12, 2018 (152)
149 Genome-wide autozygosity in Daghestan NC_000005.8 - 178473581 Apr 26, 2020 (154)
150 Genetic variation in the Estonian population NC_000005.9 - 178540975 Oct 12, 2018 (152)
151 ExAC NC_000005.9 - 178540975 Oct 12, 2018 (152)
152 FINRISK NC_000005.9 - 178540975 Apr 26, 2020 (154)
153 The Danish reference pan genome NC_000005.9 - 178540975 Apr 26, 2020 (154)
154 gnomAD - Genomes NC_000005.10 - 179113974 Apr 26, 2021 (155)
155 gnomAD - Exomes NC_000005.9 - 178540975 Jul 13, 2019 (153)
156 GO Exome Sequencing Project NC_000005.9 - 178540975 Oct 12, 2018 (152)
157 Genome of the Netherlands Release 5 NC_000005.9 - 178540975 Apr 26, 2020 (154)
158 HGDP-CEPH-db Supplement 1 NC_000005.8 - 178473581 Apr 26, 2020 (154)
159 HapMap NC_000005.10 - 179113974 Apr 26, 2020 (154)
160 KOREAN population from KRGDB NC_000005.9 - 178540975 Apr 26, 2020 (154)
161 Korean Genome Project NC_000005.10 - 179113974 Apr 26, 2020 (154)
162 Medical Genome Project healthy controls from Spanish population NC_000005.9 - 178540975 Apr 26, 2020 (154)
163 Northern Sweden NC_000005.9 - 178540975 Jul 13, 2019 (153)
164 The PAGE Study NC_000005.10 - 179113974 Jul 13, 2019 (153)
165 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000005.9 - 178540975 Apr 26, 2021 (155)
166 CNV burdens in cranial meningiomas NC_000005.9 - 178540975 Apr 26, 2021 (155)
167 Qatari NC_000005.9 - 178540975 Apr 26, 2020 (154)
168 SGDP_PRJ NC_000005.9 - 178540975 Apr 26, 2020 (154)
169 Siberian NC_000005.9 - 178540975 Apr 26, 2020 (154)
170 8.3KJPN NC_000005.9 - 178540975 Apr 26, 2021 (155)
171 TopMed NC_000005.10 - 179113974 Apr 26, 2021 (155)
172 UK 10K study - Twins NC_000005.9 - 178540975 Oct 12, 2018 (152)
173 A Vietnamese Genetic Variation Database NC_000005.9 - 178540975 Jul 13, 2019 (153)
174 ALFA NC_000005.10 - 179113974 Apr 26, 2021 (155)
175 ClinVar RCV000299782.5 Apr 26, 2021 (155)
176 ClinVar RCV000422671.1 Oct 12, 2018 (152)
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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)
rs3195011 Jul 03, 2002 (106)
rs17603677 Oct 08, 2004 (123)
rs52799825 Sep 21, 2007 (128)
rs58744885 May 24, 2008 (130)
rs386514358 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
412286, 496567, ss77329251, ss162941822, ss167417681, ss278609817, ss285319586, ss479318551, ss491879205, ss825346462, ss1397437535, ss1592016830, ss1712826707, ss3639302733, ss3639676147, ss3643542822, ss3847818675 NC_000005.8:178473580:G:A NC_000005.10:179113973:G:A (self)
30286326, 16859891, 12006203, 8135485, 39597, 7652115, 4613333, 605315, 7482158, 17590721, 224472, 6393637, 418243, 109075, 7769295, 15705797, 4154396, 33652748, 16859891, 3734074, ss222148668, ss233279561, ss240374814, ss342198901, ss479321782, ss479707846, ss484459592, ss490917591, ss491376519, ss536624258, ss558929394, ss652840472, ss778361508, ss780844656, ss782676355, ss783644988, ss831927095, ss832649736, ss833240425, ss833816287, ss982472967, ss1067474423, ss1073300169, ss1318559755, ss1430602302, ss1581487176, ss1584043136, ss1614731068, ss1657725101, ss1688119878, ss1711108712, ss1752567074, ss1752567075, ss1804228983, ss1917798290, ss1925727365, ss1946164732, ss1958852256, ss1970284834, ss2023477865, ss2151638042, ss2449299822, ss2626226962, ss2634384426, ss2707219541, ss2735478535, ss2747527415, ss2834634488, ss2985349807, ss2985978884, ss2998342009, ss3022563326, ss3023061710, ss3346782560, ss3629418046, ss3629418047, ss3632305517, ss3634123714, ss3635038956, ss3635038957, ss3635805155, ss3636752894, ss3637557855, ss3638600460, ss3640746250, ss3640746251, ss3644897789, ss3646329054, ss3653070501, ss3654118280, ss3666267955, ss3733108772, ss3744544584, ss3745339094, ss3745339095, ss3764480194, ss3772832939, ss3772832940, ss3824147251, ss3825522958, ss3825687554, ss3829674104, ss3838311136, ss3863688817, ss3910413327, ss3984325719, ss3984325720, ss3984559701, ss3985192316, ss3986033002, ss3986332034, ss4017249250, ss5175683441 NC_000005.9:178540974:G:A NC_000005.10:179113973:G:A (self)
RCV000299782.5, RCV000422671.1, 214191870, 3037625, 14668711, 476014, 329990291, 527704516, 654166676, ss2280948576, ss3025521442, ss3487514599, ss3716370710, ss3726300658, ss3771254545, ss3807642301, ss3958290710, ss4690326959, ss5237018874 NC_000005.10:179113973:G:A NC_000005.10:179113973:G:A (self)
ss1532456, ss3250293, ss4321429, ss4421493, ss24377049, ss48409319, ss65724758, ss66570975, ss66896221, ss67005953, ss68961012, ss70376851, ss70492270, ss71016936, ss74808576, ss74953414, ss83674757, ss86343186, ss104268739, ss120037136, ss121371785, ss152794740, ss156401326, ss159137076, ss159710992, ss159910490, ss169568260, ss170381124 NT_023133.13:23352247:G:A NC_000005.10:179113973:G:A (self)
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

1 citation for rs1054480
PMID Title Author Year Journal
23491141 Polymorphic variation within the ADAMTS2, ADAMTS14, ADAMTS5, ADAM12 and TIMP2 genes and the risk of Achilles tendon pathology: a genetic association study. El Khoury L et al. 2013 Journal of science and medicine in sport
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The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

Genomic regions, transcripts, and products
Top Help

NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post676+237644a