Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

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.

rs2765033

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:1375544 (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
T>A / T>C
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.023140 (6125/264690, TOPMED)
T=0.026843 (4852/180754, ALFA)
T=0.026181 (3672/140254, GnomAD) (+ 17 more)
T=0.13616 (2282/16760, 8.3KJPN)
T=0.0471 (236/5008, 1000G)
T=0.0353 (158/4480, Estonian)
T=0.0280 (108/3854, ALSPAC)
T=0.0254 (94/3708, TWINSUK)
T=0.1224 (358/2926, KOREAN)
T=0.0509 (106/2084, HGDP_Stanford)
T=0.0450 (85/1890, HapMap)
T=0.1119 (205/1832, Korea1K)
T=0.027 (27/998, GoNL)
T=0.033 (20/600, NorthernSweden)
T=0.027 (15/556, SGDP_PRJ)
T=0.023 (5/216, Qatari)
T=0.095 (20/210, Vietnamese)
T=0.02 (2/86, Ancient Sardinia)
T=0.04 (2/56, Siberian)
T=0.07 (3/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
AURKAIP1 : 2KB Upstream Variant
Publications
0 citations
Genomic View
See rs on genome
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 1 NC_000001.11:g.1375544T>A
GRCh38.p13 chr 1 NC_000001.11:g.1375544T>C
GRCh37.p13 chr 1 NC_000001.10:g.1310924T>A
GRCh37.p13 chr 1 NC_000001.10:g.1310924T>C
Gene: AURKAIP1, aurora kinase A interacting protein 1 (minus strand) : 2KB Upstream Variant
Molecule type Change Amino acid[Codon] SO Term
AURKAIP1 transcript variant 2 NM_001127229.2:c. N/A Upstream Transcript Variant
AURKAIP1 transcript variant 3 NM_001127230.2:c. N/A Upstream Transcript Variant
AURKAIP1 transcript variant 1 NM_017900.3:c. N/A Upstream Transcript Variant
AURKAIP1 transcript variant X1 XM_011541670.3:c. N/A Upstream Transcript Variant
AURKAIP1 transcript variant X2 XM_024447924.1:c. N/A Upstream Transcript 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.

Not Reported in ClinVar

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 180754 T=0.026843 A=0.000000, C=0.973157
European Sub 157924 T=0.026215 A=0.000000, C=0.973785
African Sub 4280 T=0.0124 A=0.0000, C=0.9876
African Others Sub 156 T=0.013 A=0.000, C=0.987
African American Sub 4124 T=0.0124 A=0.0000, C=0.9876
Asian Sub 594 T=0.096 A=0.000, C=0.904
East Asian Sub 470 T=0.091 A=0.000, C=0.909
Other Asian Sub 124 T=0.113 A=0.000, C=0.887
Latin American 1 Sub 696 T=0.022 A=0.000, C=0.978
Latin American 2 Sub 6292 T=0.0114 A=0.0000, C=0.9886
South Asian Sub 4946 T=0.0716 A=0.0000, C=0.9284
Other Sub 6022 T=0.0267 A=0.0000, C=0.9733


Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 T=0.023140 C=0.976860
gnomAD - Genomes Global Study-wide 140254 T=0.026181 C=0.973819
gnomAD - Genomes European Sub 75936 T=0.03304 C=0.96696
gnomAD - Genomes African Sub 42048 T=0.01161 C=0.98839
gnomAD - Genomes American Sub 13664 T=0.01874 C=0.98126
gnomAD - Genomes Ashkenazi Jewish Sub 3324 T=0.0223 C=0.9777
gnomAD - Genomes East Asian Sub 3130 T=0.0888 C=0.9112
gnomAD - Genomes Other Sub 2152 T=0.0311 C=0.9689
8.3KJPN JAPANESE Study-wide 16760 T=0.13616 C=0.86384
1000Genomes Global Study-wide 5008 T=0.0471 C=0.9529
1000Genomes African Sub 1322 T=0.0204 C=0.9796
1000Genomes East Asian Sub 1008 T=0.0883 C=0.9117
1000Genomes Europe Sub 1006 T=0.0328 C=0.9672
1000Genomes South Asian Sub 978 T=0.076 C=0.924
1000Genomes American Sub 694 T=0.019 C=0.981
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.0353 C=0.9647
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.0280 C=0.9720
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.0254 C=0.9746
KOREAN population from KRGDB KOREAN Study-wide 2926 T=0.1224 A=0.0000, C=0.8776
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 T=0.0509 C=0.9491
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 T=0.098 C=0.902
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 T=0.048 C=0.952
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 T=0.057 C=0.943
HGDP-CEPH-db Supplement 1 Europe Sub 320 T=0.034 C=0.966
HGDP-CEPH-db Supplement 1 Africa Sub 242 T=0.008 C=0.992
HGDP-CEPH-db Supplement 1 America Sub 216 T=0.000 C=1.000
HGDP-CEPH-db Supplement 1 Oceania Sub 72 T=0.10 C=0.90
HapMap Global Study-wide 1890 T=0.0450 C=0.9550
HapMap American Sub 768 T=0.043 C=0.957
HapMap African Sub 692 T=0.020 C=0.980
HapMap Asian Sub 254 T=0.134 C=0.866
HapMap Europe Sub 176 T=0.023 C=0.977
Korean Genome Project KOREAN Study-wide 1832 T=0.1119 C=0.8881
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.027 C=0.973
Northern Sweden ACPOP Study-wide 600 T=0.033 C=0.967
SGDP_PRJ Global Study-wide 556 T=0.027 C=0.973
Qatari Global Study-wide 216 T=0.023 C=0.977
A Vietnamese Genetic Variation Database Global Study-wide 210 T=0.095 C=0.905
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 86 T=0.02 C=0.98
Siberian Global Study-wide 56 T=0.04 C=0.96
The Danish reference pan genome Danish Study-wide 40 T=0.07 C=0.93
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 T= A C
GRCh38.p13 chr 1 NC_000001.11:g.1375544= NC_000001.11:g.1375544T>A NC_000001.11:g.1375544T>C
GRCh37.p13 chr 1 NC_000001.10:g.1310924= NC_000001.10:g.1310924T>A NC_000001.10:g.1310924T>C
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#.

103 SubSNP, 20 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_JCM ss3906687 Sep 28, 2001 (100)
2 ILLUMINA ss67272047 Dec 01, 2006 (131)
3 ILLUMINA ss67672843 Dec 01, 2006 (131)
4 ILLUMINA ss68211704 Dec 12, 2006 (131)
5 PERLEGEN ss68756334 May 17, 2007 (131)
6 ILLUMINA ss70750514 May 26, 2008 (131)
7 ILLUMINA ss71322867 May 17, 2007 (131)
8 ILLUMINA ss75615482 Dec 07, 2007 (131)
9 KRIBB_YJKIM ss84079441 Dec 14, 2007 (130)
10 BCMHGSC_JDW ss87159490 Mar 23, 2008 (129)
11 HUMANGENOME_JCVI ss97913713 Feb 06, 2009 (131)
12 BGI ss105112468 Dec 01, 2009 (131)
13 ENSEMBL ss131649218 Dec 01, 2009 (131)
14 ILLUMINA ss154232885 Dec 01, 2009 (131)
15 GMI ss154530738 Dec 01, 2009 (131)
16 ILLUMINA ss159409351 Dec 01, 2009 (131)
17 ILLUMINA ss160577119 Dec 01, 2009 (131)
18 COMPLETE_GENOMICS ss162985606 Jul 04, 2010 (132)
19 COMPLETE_GENOMICS ss163710746 Jul 04, 2010 (132)
20 ILLUMINA ss173456173 Jul 04, 2010 (132)
21 BUSHMAN ss197892602 Jul 04, 2010 (132)
22 BCM-HGSC-SUB ss205102251 Jul 04, 2010 (132)
23 BL ss252867005 May 09, 2011 (134)
24 GMI ss275683158 May 04, 2012 (137)
25 GMI ss283988330 Apr 25, 2013 (138)
26 PJP ss290494649 May 09, 2011 (134)
27 1000GENOMES ss328361212 May 09, 2011 (134)
28 ILLUMINA ss480657461 May 04, 2012 (137)
29 ILLUMINA ss480672918 May 04, 2012 (137)
30 ILLUMINA ss481522543 Sep 08, 2015 (146)
31 ILLUMINA ss485123623 May 04, 2012 (137)
32 ILLUMINA ss537124429 Sep 08, 2015 (146)
33 TISHKOFF ss553716831 Apr 25, 2013 (138)
34 SSMP ss647520163 Apr 25, 2013 (138)
35 ILLUMINA ss778505682 Sep 08, 2015 (146)
36 ILLUMINA ss783008160 Sep 08, 2015 (146)
37 ILLUMINA ss783968477 Sep 08, 2015 (146)
38 ILLUMINA ss832265459 Sep 08, 2015 (146)
39 ILLUMINA ss832921031 Jul 12, 2019 (153)
40 ILLUMINA ss833961864 Sep 08, 2015 (146)
41 EVA-GONL ss974774511 Aug 21, 2014 (142)
42 JMKIDD_LAB ss1067614983 Aug 21, 2014 (142)
43 1000GENOMES ss1289361249 Aug 21, 2014 (142)
44 DDI ss1425686357 Apr 01, 2015 (144)
45 EVA_GENOME_DK ss1573852890 Apr 01, 2015 (144)
46 EVA_DECODE ss1584134493 Apr 01, 2015 (144)
47 EVA_UK10K_ALSPAC ss1599387315 Apr 01, 2015 (144)
48 EVA_UK10K_TWINSUK ss1642381348 Apr 01, 2015 (144)
49 EVA_SVP ss1712305673 Apr 01, 2015 (144)
50 ILLUMINA ss1751868011 Sep 08, 2015 (146)
51 HAMMER_LAB ss1793724708 Sep 08, 2015 (146)
52 WEILL_CORNELL_DGM ss1917967112 Feb 12, 2016 (147)
53 GENOMED ss1966668061 Jul 19, 2016 (147)
54 JJLAB ss2019501170 Sep 14, 2016 (149)
55 USC_VALOUEV ss2147488398 Dec 20, 2016 (150)
56 HUMAN_LONGEVITY ss2159408210 Dec 20, 2016 (150)
57 TOPMED ss2321548025 Dec 20, 2016 (150)
58 SYSTEMSBIOZJU ss2624266246 Nov 08, 2017 (151)
59 ILLUMINA ss2632466002 Nov 08, 2017 (151)
60 GRF ss2697379045 Nov 08, 2017 (151)
61 GNOMAD ss2750703124 Nov 08, 2017 (151)
62 SWEGEN ss2986158881 Nov 08, 2017 (151)
63 TOPMED ss3066542027 Nov 08, 2017 (151)
64 TOPMED ss3066542028 Nov 08, 2017 (151)
65 CSHL ss3343275888 Nov 08, 2017 (151)
66 ILLUMINA ss3626007669 Oct 11, 2018 (152)
67 ILLUMINA ss3630505959 Oct 11, 2018 (152)
68 ILLUMINA ss3632878099 Oct 11, 2018 (152)
69 ILLUMINA ss3633571555 Oct 11, 2018 (152)
70 ILLUMINA ss3634302369 Oct 11, 2018 (152)
71 ILLUMINA ss3635265756 Oct 11, 2018 (152)
72 ILLUMINA ss3635978854 Oct 11, 2018 (152)
73 ILLUMINA ss3637016097 Oct 11, 2018 (152)
74 ILLUMINA ss3637732669 Oct 11, 2018 (152)
75 ILLUMINA ss3638887894 Oct 11, 2018 (152)
76 ILLUMINA ss3639756846 Oct 11, 2018 (152)
77 ILLUMINA ss3640009735 Oct 11, 2018 (152)
78 ILLUMINA ss3640973227 Oct 11, 2018 (152)
79 ILLUMINA ss3641267035 Oct 11, 2018 (152)
80 ILLUMINA ss3642746939 Oct 11, 2018 (152)
81 ILLUMINA ss3643810777 Oct 11, 2018 (152)
82 OMUKHERJEE_ADBS ss3646219216 Oct 11, 2018 (152)
83 URBANLAB ss3646582299 Oct 11, 2018 (152)
84 EGCUT_WGS ss3654269896 Jul 12, 2019 (153)
85 EVA_DECODE ss3686003766 Jul 12, 2019 (153)
86 ACPOP ss3726721103 Jul 12, 2019 (153)
87 ILLUMINA ss3744603299 Jul 12, 2019 (153)
88 EVA ss3745727532 Jul 12, 2019 (153)
89 ILLUMINA ss3772105049 Jul 12, 2019 (153)
90 PACBIO ss3783303384 Jul 12, 2019 (153)
91 PACBIO ss3788981116 Jul 12, 2019 (153)
92 PACBIO ss3793853713 Jul 12, 2019 (153)
93 KHV_HUMAN_GENOMES ss3798750244 Jul 12, 2019 (153)
94 EVA ss3825983963 Apr 25, 2020 (154)
95 EVA ss3836379379 Apr 25, 2020 (154)
96 EVA ss3841783413 Apr 25, 2020 (154)
97 HGDP ss3847322147 Apr 25, 2020 (154)
98 SGDP_PRJ ss3848011579 Apr 25, 2020 (154)
99 KRGDB ss3892855052 Apr 25, 2020 (154)
100 KOGIC ss3943642493 Apr 25, 2020 (154)
101 EVA ss3984774146 Apr 25, 2021 (155)
102 TOPMED ss4436606493 Apr 25, 2021 (155)
103 TOMMO_GENOMICS ss5142080515 Apr 25, 2021 (155)
104 1000Genomes NC_000001.10 - 1310924 Oct 11, 2018 (152)
105 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 1310924 Oct 11, 2018 (152)
106 Genetic variation in the Estonian population NC_000001.10 - 1310924 Oct 11, 2018 (152)
107 The Danish reference pan genome NC_000001.10 - 1310924 Apr 25, 2020 (154)
108 gnomAD - Genomes NC_000001.11 - 1375544 Apr 25, 2021 (155)
109 Genome of the Netherlands Release 5 NC_000001.10 - 1310924 Apr 25, 2020 (154)
110 HGDP-CEPH-db Supplement 1 NC_000001.9 - 1300787 Apr 25, 2020 (154)
111 HapMap NC_000001.11 - 1375544 Apr 25, 2020 (154)
112 KOREAN population from KRGDB NC_000001.10 - 1310924 Apr 25, 2020 (154)
113 Korean Genome Project NC_000001.11 - 1375544 Apr 25, 2020 (154)
114 Northern Sweden NC_000001.10 - 1310924 Jul 12, 2019 (153)
115 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000001.10 - 1310924 Apr 25, 2021 (155)
116 Qatari NC_000001.10 - 1310924 Apr 25, 2020 (154)
117 SGDP_PRJ NC_000001.10 - 1310924 Apr 25, 2020 (154)
118 Siberian NC_000001.10 - 1310924 Apr 25, 2020 (154)
119 8.3KJPN NC_000001.10 - 1310924 Apr 25, 2021 (155)
120 TopMed NC_000001.11 - 1375544 Apr 25, 2021 (155)
121 UK 10K study - Twins NC_000001.10 - 1310924 Oct 11, 2018 (152)
122 A Vietnamese Genetic Variation Database NC_000001.10 - 1310924 Jul 12, 2019 (153)
123 ALFA NC_000001.11 - 1375544 Apr 25, 2021 (155)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID History Updated (Build)
rs41452049 Dec 02, 2009 (131)
rs57675054 May 24, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
32446, ss3892855052 NC_000001.10:1310923:T:A NC_000001.11:1375543:T:A (self)
4276687278, ss3066542027 NC_000001.11:1375543:T:A NC_000001.11:1375543:T:A (self)
ss3638887894, ss3639756846, ss3643810777 NC_000001.8:1350846:T:C NC_000001.11:1375543:T:C (self)
39, ss87159490, ss162985606, ss163710746, ss197892602, ss205102251, ss252867005, ss275683158, ss283988330, ss290494649, ss480657461, ss1584134493, ss1712305673, ss3642746939, ss3847322147 NC_000001.9:1300786:T:C NC_000001.11:1375543:T:C (self)
26728, 10126, 8144, 1360124, 4050, 32446, 5968, 73, 9042, 28559, 4752, 49822, 10126, 2135, ss328361212, ss480672918, ss481522543, ss485123623, ss537124429, ss553716831, ss647520163, ss778505682, ss783008160, ss783968477, ss832265459, ss832921031, ss833961864, ss974774511, ss1067614983, ss1289361249, ss1425686357, ss1573852890, ss1599387315, ss1642381348, ss1751868011, ss1793724708, ss1917967112, ss1966668061, ss2019501170, ss2147488398, ss2321548025, ss2624266246, ss2632466002, ss2697379045, ss2750703124, ss2986158881, ss3343275888, ss3626007669, ss3630505959, ss3632878099, ss3633571555, ss3634302369, ss3635265756, ss3635978854, ss3637016097, ss3637732669, ss3640009735, ss3640973227, ss3641267035, ss3646219216, ss3654269896, ss3726721103, ss3744603299, ss3745727532, ss3772105049, ss3783303384, ss3788981116, ss3793853713, ss3825983963, ss3836379379, ss3848011579, ss3892855052, ss3984774146, ss5142080515 NC_000001.10:1310923:T:C NC_000001.11:1375543:T:C (self)
216849, 437, 20494, 126104, 212828, 4276687278, ss2159408210, ss3066542028, ss3646582299, ss3686003766, ss3798750244, ss3841783413, ss3943642493, ss4436606493 NC_000001.11:1375543:T:C NC_000001.11:1375543:T:C (self)
ss3906687, ss67272047, ss67672843, ss68211704, ss68756334, ss70750514, ss71322867, ss75615482, ss84079441, ss97913713, ss105112468, ss131649218, ss154232885, ss154530738, ss159409351, ss160577119, ss173456173 NT_004350.19:789555:T:C NC_000001.11:1375543:T:C (self)
Help

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

No publications for rs2765033

Help

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.post596+ae089ad