Name: rs2066734
Published: September 21, 2022
License: Open Access

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.

rs2066734

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr11:108227733-108227734 (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: delAA
Variation Type: Deletion
Frequency: delAA=0.360153 (95329/264690, TOPMED)
delAA=0.435220 (109355/251264, GnomAD_exome)
delAA=0.352572 (49303/139838, GnomAD) (+ 15 more)
delAA=0.425343 (51583/121274, ExAC)
delAA=0.39500 (11162/28258, 14KJPN)
delAA=0.40566 (11189/27582, ALFA)
delAA=0.39247 (6577/16758, 8.3KJPN)
delAA=0.33578 (4202/12514, GO-ESP)
delAA=0.3766 (2412/6404, 1000G_30x)
delAA=0.3812 (1909/5008, 1000G)
delAA=0.3955 (1772/4480, Estonian)
delAA=0.4222 (1627/3854, ALSPAC)
delAA=0.4202 (1558/3708, TWINSUK)
delAA=0.4116 (754/1832, Korea1K)
delAA=0.414 (413/998, GoNL)
delAA=0.333 (200/600, NorthernSweden)
delAA=0.321 (68/212, Vietnamese)
delAA=0.47 (19/40, GENOME_DK)

Clinical Significance: Reported in ClinVar
Gene : Consequence: ATM : Intron 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: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele	Ref HMOZ	Alt HMOZ	HTRZ	HWEP
Total	Global	27582	AA=0.59434	=0.40566	0.362773	0.174099	0.463128	12
European	Sub	20264	AA=0.56943	=0.43057	0.326589	0.187722	0.485689	1
African	Sub	3506	AA=0.7969	=0.2031	0.64575	0.051911	0.302339	5
African Others	Sub	122	AA=0.852	=0.148	0.737705	0.032787	0.229508	0
African American	Sub	3384	AA=0.7949	=0.2051	0.642435	0.0526	0.304965	4
Asian	Sub	168	AA=0.583	=0.417	0.345238	0.178571	0.47619	0
East Asian	Sub	112	AA=0.580	=0.420	0.321429	0.160714	0.517857	0
Other Asian	Sub	56	AA=0.59	=0.41	0.392857	0.214286	0.392857	1
Latin American 1	Sub	146	AA=0.596	=0.404	0.39726	0.205479	0.39726	2
Latin American 2	Sub	610	AA=0.454	=0.546	0.2	0.291803	0.508197	0
South Asian	Sub	98	AA=0.45	=0.55	0.183673	0.285714	0.530612	0
Other	Sub	2790	AA=0.5570	=0.4430	0.311111	0.197133	0.491756	0

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	AA=0.639847	delAA=0.360153
gnomAD - Exomes	Global	Study-wide	251264	AA=0.564780	delAA=0.435220
gnomAD - Exomes	European	Sub	135280	AA=0.582776	delAA=0.417224
gnomAD - Exomes	Asian	Sub	48986	AA=0.53115	delAA=0.46885
gnomAD - Exomes	American	Sub	34578	AA=0.43380	delAA=0.56620
gnomAD - Exomes	African	Sub	16222	AA=0.83652	delAA=0.16348
gnomAD - Exomes	Ashkenazi Jewish	Sub	10076	AA=0.51370	delAA=0.48630
gnomAD - Exomes	Other	Sub	6122	AA=0.5400	delAA=0.4600
gnomAD - Genomes	Global	Study-wide	139838	AA=0.647428	delAA=0.352572
gnomAD - Genomes	European	Sub	75690	AA=0.58499	delAA=0.41501
gnomAD - Genomes	African	Sub	41946	AA=0.82618	delAA=0.17382
gnomAD - Genomes	American	Sub	13622	AA=0.49178	delAA=0.50822
gnomAD - Genomes	Ashkenazi Jewish	Sub	3318	AA=0.5033	delAA=0.4967
gnomAD - Genomes	East Asian	Sub	3120	AA=0.6099	delAA=0.3901
gnomAD - Genomes	Other	Sub	2142	AA=0.6209	delAA=0.3791
ExAC	Global	Study-wide	121274	AA=0.574657	delAA=0.425343
ExAC	Europe	Sub	73312	AA=0.57820	delAA=0.42180
ExAC	Asian	Sub	25148	AA=0.52573	delAA=0.47427
ExAC	American	Sub	11566	AA=0.43049	delAA=0.56951
ExAC	African	Sub	10342	AA=0.83156	delAA=0.16844
ExAC	Other	Sub	906	AA=0.554	delAA=0.446
14KJPN	JAPANESE	Study-wide	28258	AA=0.60500	delAA=0.39500
Allele Frequency Aggregator	Total	Global	27582	AA=0.59434	delAA=0.40566
Allele Frequency Aggregator	European	Sub	20264	AA=0.56943	delAA=0.43057
Allele Frequency Aggregator	African	Sub	3506	AA=0.7969	delAA=0.2031
Allele Frequency Aggregator	Other	Sub	2790	AA=0.5570	delAA=0.4430
Allele Frequency Aggregator	Latin American 2	Sub	610	AA=0.454	delAA=0.546
Allele Frequency Aggregator	Asian	Sub	168	AA=0.583	delAA=0.417
Allele Frequency Aggregator	Latin American 1	Sub	146	AA=0.596	delAA=0.404
Allele Frequency Aggregator	South Asian	Sub	98	AA=0.45	delAA=0.55
8.3KJPN	JAPANESE	Study-wide	16758	AA=0.60753	delAA=0.39247
GO Exome Sequencing Project	Global	Study-wide	12514	AA=0.66422	delAA=0.33578
GO Exome Sequencing Project	European American	Sub	8250	AA=0.5810	delAA=0.4190
GO Exome Sequencing Project	African American	Sub	4264	AA=0.8253	delAA=0.1747
1000Genomes_30x	Global	Study-wide	6404	AA=0.6234	delAA=0.3766
1000Genomes_30x	African	Sub	1786	AA=0.8785	delAA=0.1215
1000Genomes_30x	Europe	Sub	1266	AA=0.5640	delAA=0.4360
1000Genomes_30x	South Asian	Sub	1202	AA=0.4468	delAA=0.5532
1000Genomes_30x	East Asian	Sub	1170	AA=0.6128	delAA=0.3872
1000Genomes_30x	American	Sub	980	AA=0.464	delAA=0.536
1000Genomes	Global	Study-wide	5008	AA=0.6188	delAA=0.3812
1000Genomes	African	Sub	1322	AA=0.8775	delAA=0.1225
1000Genomes	East Asian	Sub	1008	AA=0.6161	delAA=0.3839
1000Genomes	Europe	Sub	1006	AA=0.5487	delAA=0.4513
1000Genomes	South Asian	Sub	978	AA=0.451	delAA=0.549
1000Genomes	American	Sub	694	AA=0.468	delAA=0.532
Genetic variation in the Estonian population	Estonian	Study-wide	4480	AA=0.6045	delAA=0.3955
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	AA=0.5778	delAA=0.4222
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	AA=0.5798	delAA=0.4202
Korean Genome Project	KOREAN	Study-wide	1832	AA=0.5884	delAA=0.4116
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	AA=0.586	delAA=0.414
Northern Sweden	ACPOP	Study-wide	600	AA=0.667	delAA=0.333
A Vietnamese Genetic Variation Database	Global	Study-wide	212	AA=0.679	delAA=0.321
The Danish reference pan genome	Danish	Study-wide	40	AA=0.53	delAA=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.

Genomic Placements

Sequence name	Change
GRCh38.p14 chr 11	NC_000011.10:g.108227733_108227734del
GRCh37.p13 chr 11	NC_000011.9:g.108098460_108098461del
ATM RefSeqGene (LRG_135)	NG_009830.1:g.9902_9903del

Gene: ATM, ATM serine/threonine kinase (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ATM transcript variant 2	NM_000051.4:c.72+37_72+38… NM_000051.4:c.72+37_72+38del	N/A	Intron Variant
ATM transcript variant 1	NM_001351834.2:c.72+37_72… NM_001351834.2:c.72+37_72+38del	N/A	Intron Variant
ATM transcript variant 3	NM_001351835.2:c.72+37_72… NM_001351835.2:c.72+37_72+38del	N/A	Intron Variant
ATM transcript variant 4	NM_001351836.2:c.72+37_72… NM_001351836.2:c.72+37_72+38del	N/A	Intron Variant
ATM transcript variant X3	XM_005271562.6:c.72+37_72… XM_005271562.6:c.72+37_72+38del	N/A	Intron Variant
ATM transcript variant X1	XM_006718843.5:c.72+37_72… XM_006718843.5:c.72+37_72+38del	N/A	Intron Variant
ATM transcript variant X4	XM_011542840.4:c.72+37_72… XM_011542840.4:c.72+37_72+38del	N/A	Intron Variant
ATM transcript variant X7	XM_011542842.4:c.72+37_72… XM_011542842.4:c.72+37_72+38del	N/A	Intron Variant
ATM transcript variant X11	XM_011542843.3:c.72+37_72… XM_011542843.3:c.72+37_72+38del	N/A	Intron Variant
ATM transcript variant X5	XM_017017790.3:c.72+37_72… XM_017017790.3:c.72+37_72+38del	N/A	Intron Variant
ATM transcript variant X2	XM_047426975.1:c.72+37_72… XM_047426975.1:c.72+37_72+38del	N/A	Intron Variant
ATM transcript variant X6	XM_047426976.1:c.72+37_72… XM_047426976.1:c.72+37_72+38del	N/A	Intron Variant
ATM transcript variant X8	XM_047426977.1:c.72+37_72… XM_047426977.1:c.72+37_72+38del	N/A	Intron Variant
ATM transcript variant X9	XM_047426978.1:c.72+37_72… XM_047426978.1:c.72+37_72+38del	N/A	Intron Variant
ATM transcript variant X10	XM_047426979.1:c.72+37_72… XM_047426979.1:c.72+37_72+38del	N/A	Intron Variant
ATM transcript variant X14	XM_047426981.1:c.72+37_72… XM_047426981.1:c.72+37_72+38del	N/A	Intron Variant
ATM transcript variant X13	XM_006718845.3:c.	N/A	Genic Upstream Transcript Variant
ATM transcript variant X12	XM_011542844.4:c.	N/A	Genic Upstream 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.

Allele: delAA (allele ID: 1168230 )

ClinVar Accession	Disease Names	Clinical Significance
RCV001534829.2	not provided	Benign
RCV001685450.3	not specified	Benign
RCV002225852.1	Hereditary breast ovarian cancer syndrome	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	AA=	delAA
GRCh38.p14 chr 11	NC_000011.10:g.108227733_108227734=	NC_000011.10:g.108227733_108227734del
GRCh37.p13 chr 11	NC_000011.9:g.108098460_108098461=	NC_000011.9:g.108098460_108098461del
ATM RefSeqGene (LRG_135)	NG_009830.1:g.9902_9903=	NG_009830.1:g.9902_9903del
ATM transcript variant 2	NM_000051.3:c.72+37=	NM_000051.3:c.72+37_72+38del
ATM transcript variant 2	NM_000051.4:c.72+37=	NM_000051.4:c.72+37_72+38del
ATM transcript variant 1	NM_001351834.2:c.72+37=	NM_001351834.2:c.72+37_72+38del
ATM transcript variant 3	NM_001351835.2:c.72+37=	NM_001351835.2:c.72+37_72+38del
ATM transcript variant 4	NM_001351836.2:c.72+37=	NM_001351836.2:c.72+37_72+38del
ATM transcript variant X1	XM_005271561.1:c.72+37=	XM_005271561.1:c.72+37_72+38del
ATM transcript variant X2	XM_005271562.1:c.72+37=	XM_005271562.1:c.72+37_72+38del
ATM transcript variant X3	XM_005271562.6:c.72+37=	XM_005271562.6:c.72+37_72+38del
ATM transcript variant X3	XM_005271563.1:c.72+37=	XM_005271563.1:c.72+37_72+38del
ATM transcript variant X1	XM_006718843.5:c.72+37=	XM_006718843.5:c.72+37_72+38del
ATM transcript variant X4	XM_011542840.4:c.72+37=	XM_011542840.4:c.72+37_72+38del
ATM transcript variant X7	XM_011542842.4:c.72+37=	XM_011542842.4:c.72+37_72+38del
ATM transcript variant X11	XM_011542843.3:c.72+37=	XM_011542843.3:c.72+37_72+38del
ATM transcript variant X5	XM_017017790.3:c.72+37=	XM_017017790.3:c.72+37_72+38del
ATM transcript variant X2	XM_047426975.1:c.72+37=	XM_047426975.1:c.72+37_72+38del
ATM transcript variant X6	XM_047426976.1:c.72+37=	XM_047426976.1:c.72+37_72+38del
ATM transcript variant X8	XM_047426977.1:c.72+37=	XM_047426977.1:c.72+37_72+38del
ATM transcript variant X9	XM_047426978.1:c.72+37=	XM_047426978.1:c.72+37_72+38del
ATM transcript variant X10	XM_047426979.1:c.72+37=	XM_047426979.1:c.72+37_72+38del
ATM transcript variant X14	XM_047426981.1:c.72+37=	XM_047426981.1:c.72+37_72+38del

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#.

73 SubSNP, 18 Frequency, 3 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	UWGC	ss2978405	Apr 12, 2001 (94)
2	UWGC	ss4479871	Jul 03, 2002 (106)
3	UWGC	ss4479879	Jul 03, 2002 (106)
4	EGP_SNPS	ss6904781	Mar 31, 2003 (113)
5	DEVINE_LAB	ss50163471	Mar 15, 2016 (147)
6	CGM_KYOTO	ss76864122	Dec 07, 2007 (129)
7	HGSV	ss81788500	Dec 15, 2007 (130)
8	BUSHMAN	ss193250080	Jul 04, 2010 (132)
9	GMI	ss287881937	May 09, 2011 (134)
10	GMI	ss289095234	May 04, 2012 (137)
11	PJP	ss294721985	May 09, 2011 (135)
12	1000GENOMES	ss327378707	May 09, 2011 (135)
13	1000GENOMES	ss327468805	May 09, 2011 (135)
14	1000GENOMES	ss327892018	May 09, 2011 (135)
15	1000GENOMES	ss499593345	May 04, 2012 (137)
16	LUNTER	ss552163821	Apr 25, 2013 (138)
17	LUNTER	ss552429893	Apr 25, 2013 (138)
18	LUNTER	ss553464402	Apr 25, 2013 (138)
19	SSMP	ss664020906	Apr 01, 2015 (144)
20	BILGI_BIOE	ss666549194	Apr 25, 2013 (138)
21	EVA-GONL	ss988941696	Aug 21, 2014 (142)
22	1000GENOMES	ss1371488108	Aug 21, 2014 (142)
23	EVA_GENOME_DK	ss1574413765	Apr 01, 2015 (144)
24	EVA_DECODE	ss1598606305	Apr 01, 2015 (144)
25	EVA_UK10K_ALSPAC	ss1707249476	Apr 01, 2015 (144)
26	EVA_UK10K_TWINSUK	ss1707249486	Apr 01, 2015 (144)
27	EVA_EXAC	ss1711987968	Apr 01, 2015 (144)
28	HAMMER_LAB	ss1806988002	Sep 08, 2015 (146)
29	GENOMED	ss1967454270	Jul 19, 2016 (147)
30	JJLAB	ss2031099564	Sep 14, 2016 (149)
31	SYSTEMSBIOZJU	ss2627922727	Nov 08, 2017 (151)
32	GNOMAD	ss2739369263	Nov 08, 2017 (151)
33	GNOMAD	ss2748734107	Nov 08, 2017 (151)
34	GNOMAD	ss2904214565	Nov 08, 2017 (151)
35	AFFY	ss2984955780	Nov 08, 2017 (151)
36	SWEGEN	ss3008747238	Nov 08, 2017 (151)
37	MCHAISSO	ss3063707096	Nov 08, 2017 (151)
38	BIOINF_KMB_FNS_UNIBA	ss3645219471	Oct 12, 2018 (152)
39	ILLUMINA	ss3653728507	Oct 12, 2018 (152)
40	EGCUT_WGS	ss3676071876	Jul 13, 2019 (153)
41	EVA_DECODE	ss3692559443	Jul 13, 2019 (153)
42	ACPOP	ss3738524457	Jul 13, 2019 (153)
43	PACBIO	ss3787062740	Jul 13, 2019 (153)
44	PACBIO	ss3792188013	Jul 13, 2019 (153)
45	PACBIO	ss3797070544	Jul 13, 2019 (153)
46	KHV_HUMAN_GENOMES	ss3815118769	Jul 13, 2019 (153)
47	EVA	ss3824668827	Apr 26, 2020 (154)
48	EVA	ss3832830099	Apr 26, 2020 (154)
49	KOGIC	ss3970706348	Apr 26, 2020 (154)
50	EVA	ss3986544310	Apr 27, 2021 (155)
51	TOPMED	ss4899211416	Apr 27, 2021 (155)
52	TOMMO_GENOMICS	ss5203795575	Apr 27, 2021 (155)
53	CPQ_GEN_INCA	ss5236853706	Apr 27, 2021 (155)
54	CPQ_GEN_INCA	ss5236856264	Apr 27, 2021 (155)
55	CPQ_GEN_INCA	ss5236856265	Apr 27, 2021 (155)
56	EVA	ss5237216561	Apr 27, 2021 (155)
57	1000G_HIGH_COVERAGE	ss5288828574	Oct 16, 2022 (156)
58	HUGCELL_USP	ss5483824270	Oct 16, 2022 (156)
59	1000G_HIGH_COVERAGE	ss5585275730	Oct 16, 2022 (156)
60	EVA	ss5623955143	Oct 16, 2022 (156)
61	EVA	ss5624025385	Oct 16, 2022 (156)
62	SANFORD_IMAGENETICS	ss5652031803	Oct 16, 2022 (156)
63	TOMMO_GENOMICS	ss5752215388	Oct 16, 2022 (156)
64	EVA	ss5800063945	Oct 16, 2022 (156)
65	EVA	ss5800171678	Oct 16, 2022 (156)
66	YY_MCH	ss5812760609	Oct 16, 2022 (156)
67	EVA	ss5837201198	Oct 16, 2022 (156)
68	EVA	ss5848336563	Oct 16, 2022 (156)
69	EVA	ss5850143442	Oct 16, 2022 (156)
70	EVA	ss5921569827	Oct 16, 2022 (156)
71	EVA	ss5943358057	Oct 16, 2022 (156)
72	EVA	ss5980701332	Oct 16, 2022 (156)
73	EVA	ss5981271068	Oct 16, 2022 (156)
74	1000Genomes	NC_000011.9 - 108098460	Oct 12, 2018 (152)
75	1000Genomes_30x	NC_000011.10 - 108227733	Oct 16, 2022 (156)
76	The Avon Longitudinal Study of Parents and Children	NC_000011.9 - 108098460	Oct 12, 2018 (152)
77	Genetic variation in the Estonian population	NC_000011.9 - 108098460	Oct 12, 2018 (152)
78	ExAC	NC_000011.9 - 108098460	Oct 12, 2018 (152)
79	The Danish reference pan genome	NC_000011.9 - 108098460	Apr 26, 2020 (154)
80	gnomAD - Genomes	NC_000011.10 - 108227733	Apr 27, 2021 (155)
81	gnomAD - Exomes	NC_000011.9 - 108098460	Jul 13, 2019 (153)
82	GO Exome Sequencing Project	NC_000011.9 - 108098460	Oct 12, 2018 (152)
83	Genome of the Netherlands Release 5	NC_000011.9 - 108098460	Apr 26, 2020 (154)
84	Korean Genome Project	NC_000011.10 - 108227733	Apr 26, 2020 (154)
85	Northern Sweden	NC_000011.9 - 108098460	Jul 13, 2019 (153)
86	8.3KJPN	NC_000011.9 - 108098460	Apr 27, 2021 (155)
87	14KJPN	NC_000011.10 - 108227733	Oct 16, 2022 (156)
88	TopMed	NC_000011.10 - 108227733	Apr 27, 2021 (155)
89	UK 10K study - Twins	NC_000011.9 - 108098460	Oct 12, 2018 (152)
90	A Vietnamese Genetic Variation Database	NC_000011.9 - 108098460	Jul 13, 2019 (153)
91	ALFA	NC_000011.10 - 108227733	Apr 27, 2021 (155)
92	ClinVar	RCV001534829.2	Oct 16, 2022 (156)
93	ClinVar	RCV001685450.3	Oct 16, 2022 (156)
94	ClinVar	RCV002225852.1	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)
rs34883209	May 23, 2006 (127)
rs60693413	May 26, 2008 (130)
rs146450701	Sep 17, 2011 (135)
rs147736667	Sep 17, 2011 (135)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss81788500, ss289095234, ss294721985, ss327378707, ss327468805, ss327892018, ss552163821, ss552429893, ss553464402, ss1598606305	NC_000011.8:107603669:AA:	NC_000011.10:108227732:AA:	(self)
55458474, 30780316, 21810124, 895569, 319905, 8587080, 1126369, 13739072, 11809322, 61764882, 30780316, 6832941, ss499593345, ss664020906, ss666549194, ss988941696, ss1371488108, ss1574413765, ss1707249476, ss1707249486, ss1711987968, ss1806988002, ss1967454270, ss2031099564, ss2627922727, ss2739369263, ss2748734107, ss2904214565, ss2984955780, ss3008747238, ss3653728507, ss3676071876, ss3738524457, ss3787062740, ss3792188013, ss3797070544, ss3824668827, ss3832830099, ss3986544310, ss5203795575, ss5236853706, ss5236856264, ss5236856265, ss5623955143, ss5624025385, ss5652031803, ss5800063945, ss5800171678, ss5837201198, ss5848336563, ss5943358057, ss5980701332, ss5981271068	NC_000011.9:108098459:AA:	NC_000011.10:108227732:AA:	(self)
RCV001534829.2, RCV001685450.3, RCV002225852.1, 72801665, 391341256, 27084349, 86052492, 114757072, 6763937622, ss3063707096, ss3645219471, ss3692559443, ss3815118769, ss3970706348, ss4899211416, ss5237216561, ss5288828574, ss5483824270, ss5585275730, ss5752215388, ss5812760609, ss5850143442, ss5921569827	NC_000011.10:108227732:AA:	NC_000011.10:108227732:AA:	(self)
ss2978405, ss4479871, ss4479879, ss6904781, ss50163471, ss76864122, ss287881937	NT_033899.8:11660875:AA:	NC_000011.10:108227732:AA:	(self)
ss193250080	NT_033899.9:20224836:AA:	NC_000011.10:108227732:AA:	(self)

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

1 citation for rs2066734

PMID	Title	Author	Year	Journal
18433505	Association of common ATM variants with familial breast cancer in a South American population.	González-Hormazábal P et al.	2008	BMC cancer

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.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs2066734