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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.

rs28910270

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr3:142556511 (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
C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.017866 (4729/264690, TOPMED)
T=0.018137 (4557/251250, GnomAD_exome)
T=0.017385 (2438/140232, GnomAD) (+ 17 more)
T=0.018875 (2283/120952, ExAC)
T=0.02003 (1399/69848, ALFA)
T=0.02045 (266/13006, GO-ESP)
T=0.0170 (109/6404, 1000G_30x)
T=0.0184 (92/5008, 1000G)
T=0.0179 (80/4480, Estonian)
T=0.0187 (72/3854, ALSPAC)
T=0.0221 (82/3708, TWINSUK)
T=0.0275 (49/1784, HapMap)
T=0.013 (13/998, GoNL)
T=0.013 (8/600, NorthernSweden)
T=0.015 (8/534, MGP)
T=0.007 (2/304, FINRISK)
T=0.032 (7/216, Qatari)
T=0.03 (1/40, GENOME_DK)
C=0.50 (8/16, SGDP_PRJ)
T=0.50 (8/16, SGDP_PRJ)
Clinical Significance
Reported in ClinVar
Gene : Consequence
ATR : Synonymous Variant
Publications
2 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.

Release Version: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 86204 C=0.98058 T=0.01942
European Sub 62394 C=0.98102 T=0.01898
African Sub 12340 C=0.97804 T=0.02196
African Others Sub 434 C=0.975 T=0.025
African American Sub 11906 C=0.97816 T=0.02184
Asian Sub 194 C=1.000 T=0.000
East Asian Sub 136 C=1.000 T=0.000
Other Asian Sub 58 C=1.00 T=0.00
Latin American 1 Sub 536 C=0.989 T=0.011
Latin American 2 Sub 772 C=0.988 T=0.012
South Asian Sub 116 C=0.957 T=0.043
Other Sub 9852 C=0.9798 T=0.0202


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 C=0.982134 T=0.017866
gnomAD - Exomes Global Study-wide 251250 C=0.981863 T=0.018137
gnomAD - Exomes European Sub 135268 C=0.984061 T=0.015939
gnomAD - Exomes Asian Sub 48982 C=0.97350 T=0.02650
gnomAD - Exomes American Sub 34556 C=0.98897 T=0.01103
gnomAD - Exomes African Sub 16242 C=0.98116 T=0.01884
gnomAD - Exomes Ashkenazi Jewish Sub 10078 C=0.97043 T=0.02957
gnomAD - Exomes Other Sub 6124 C=0.9807 T=0.0193
gnomAD - Genomes Global Study-wide 140232 C=0.982615 T=0.017385
gnomAD - Genomes European Sub 75942 C=0.98384 T=0.01616
gnomAD - Genomes African Sub 42028 C=0.97868 T=0.02132
gnomAD - Genomes American Sub 13652 C=0.98733 T=0.01267
gnomAD - Genomes Ashkenazi Jewish Sub 3322 C=0.9669 T=0.0331
gnomAD - Genomes East Asian Sub 3134 C=1.0000 T=0.0000
gnomAD - Genomes Other Sub 2154 C=0.9851 T=0.0149
ExAC Global Study-wide 120952 C=0.981125 T=0.018875
ExAC Europe Sub 73118 C=0.98379 T=0.01621
ExAC Asian Sub 25110 C=0.97025 T=0.02975
ExAC American Sub 11556 C=0.98962 T=0.01038
ExAC African Sub 10262 C=0.97954 T=0.02046
ExAC Other Sub 906 C=0.977 T=0.023
Allele Frequency Aggregator Total Global 69848 C=0.97997 T=0.02003
Allele Frequency Aggregator European Sub 52308 C=0.98040 T=0.01960
Allele Frequency Aggregator Other Sub 8418 C=0.9792 T=0.0208
Allele Frequency Aggregator African Sub 7504 C=0.9761 T=0.0239
Allele Frequency Aggregator Latin American 2 Sub 772 C=0.988 T=0.012
Allele Frequency Aggregator Latin American 1 Sub 536 C=0.989 T=0.011
Allele Frequency Aggregator Asian Sub 194 C=1.000 T=0.000
Allele Frequency Aggregator South Asian Sub 116 C=0.957 T=0.043
GO Exome Sequencing Project Global Study-wide 13006 C=0.97955 T=0.02045
GO Exome Sequencing Project European American Sub 8600 C=0.9800 T=0.0200
GO Exome Sequencing Project African American Sub 4406 C=0.9787 T=0.0213
1000Genomes_30x Global Study-wide 6404 C=0.9830 T=0.0170
1000Genomes_30x African Sub 1786 C=0.9894 T=0.0106
1000Genomes_30x Europe Sub 1266 C=0.9755 T=0.0245
1000Genomes_30x South Asian Sub 1202 C=0.9584 T=0.0416
1000Genomes_30x East Asian Sub 1170 C=1.0000 T=0.0000
1000Genomes_30x American Sub 980 C=0.991 T=0.009
1000Genomes Global Study-wide 5008 C=0.9816 T=0.0184
1000Genomes African Sub 1322 C=0.9871 T=0.0129
1000Genomes East Asian Sub 1008 C=1.0000 T=0.0000
1000Genomes Europe Sub 1006 C=0.9761 T=0.0239
1000Genomes South Asian Sub 978 C=0.956 T=0.044
1000Genomes American Sub 694 C=0.988 T=0.012
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.9821 T=0.0179
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.9813 T=0.0187
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.9779 T=0.0221
HapMap Global Study-wide 1784 C=0.9725 T=0.0275
HapMap American Sub 760 C=0.978 T=0.022
HapMap African Sub 684 C=0.966 T=0.034
HapMap Europe Sub 174 C=0.966 T=0.034
HapMap Asian Sub 166 C=0.982 T=0.018
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.987 T=0.013
Northern Sweden ACPOP Study-wide 600 C=0.987 T=0.013
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 C=0.985 T=0.015
FINRISK Finnish from FINRISK project Study-wide 304 C=0.993 T=0.007
Qatari Global Study-wide 216 C=0.968 T=0.032
The Danish reference pan genome Danish Study-wide 40 C=0.97 T=0.03
SGDP_PRJ Global Study-wide 16 C=0.50 T=0.50
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.p14 chr 3 NC_000003.12:g.142556511C>T
GRCh37.p13 chr 3 NC_000003.11:g.142275353C>T
ATR RefSeqGene (LRG_1403) NG_008951.1:g.27316G>A
Gene: ATR, ATR serine/threonine kinase (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ATR transcript variant 1 NM_001184.4:c.1950G>A E [GAG] > E [GAA] Coding Sequence Variant
serine/threonine-protein kinase ATR isoform 1 NP_001175.2:p.Glu650= E (Glu) > E (Glu) Synonymous Variant
ATR transcript variant 2 NM_001354579.2:c.1758G>A E [GAG] > E [GAA] Coding Sequence Variant
serine/threonine-protein kinase ATR isoform 2 NP_001341508.1:p.Glu586= E (Glu) > E (Glu) Synonymous Variant
ATR transcript variant X1 XM_011512924.2:c.1950G>A E [GAG] > E [GAA] Coding Sequence Variant
serine/threonine-protein kinase ATR isoform X1 XP_011511226.1:p.Glu650= E (Glu) > E (Glu) Synonymous Variant
ATR transcript variant X2 XM_047448360.1:c.1950G>A E [GAG] > E [GAA] Coding Sequence Variant
serine/threonine-protein kinase ATR isoform X2 XP_047304316.1:p.Glu650= E (Glu) > E (Glu) Synonymous Variant
ATR transcript variant X3 XM_047448361.1:c.1950G>A E [GAG] > E [GAA] Coding Sequence Variant
serine/threonine-protein kinase ATR isoform X3 XP_047304317.1:p.Glu650= E (Glu) > E (Glu) Synonymous Variant
ATR transcript variant X4 XM_011512925.2:c.1758G>A E [GAG] > E [GAA] Coding Sequence Variant
serine/threonine-protein kinase ATR isoform X4 XP_011511227.1:p.Glu586= E (Glu) > E (Glu) Synonymous Variant
ATR transcript variant X5 XM_047448362.1:c.1950G>A E [GAG] > E [GAA] Coding Sequence Variant
serine/threonine-protein kinase ATR isoform X5 XP_047304318.1:p.Glu650= E (Glu) > E (Glu) Synonymous Variant
ATR transcript variant X6 XM_047448363.1:c.1950G>A E [GAG] > E [GAA] Coding Sequence Variant
serine/threonine-protein kinase ATR isoform X6 XP_047304319.1:p.Glu650= E (Glu) > E (Glu) Synonymous Variant
ATR transcript variant X7 XM_047448364.1:c.1950G>A E [GAG] > E [GAA] Coding Sequence Variant
serine/threonine-protein kinase ATR isoform X7 XP_047304320.1:p.Glu650= E (Glu) > E (Glu) Synonymous 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: T (allele ID: 167815 )
ClinVar Accession Disease Names Clinical Significance
RCV000145294.5 not specified Benign
RCV000398572.4 Seckel syndrome 1 Benign
RCV000588919.11 not provided 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 C= T
GRCh38.p14 chr 3 NC_000003.12:g.142556511= NC_000003.12:g.142556511C>T
GRCh37.p13 chr 3 NC_000003.11:g.142275353= NC_000003.11:g.142275353C>T
ATR RefSeqGene (LRG_1403) NG_008951.1:g.27316= NG_008951.1:g.27316G>A
ATR transcript variant 1 NM_001184.4:c.1950= NM_001184.4:c.1950G>A
ATR transcript variant 1 NM_001184.3:c.1950= NM_001184.3:c.1950G>A
ATR transcript variant 2 NM_001354579.2:c.1758= NM_001354579.2:c.1758G>A
ATR transcript variant 2 NM_001354579.1:c.1758= NM_001354579.1:c.1758G>A
ATR transcript variant X1 XM_011512924.2:c.1950= XM_011512924.2:c.1950G>A
ATR transcript variant X1 XM_011512924.1:c.1950= XM_011512924.1:c.1950G>A
ATR transcript variant X4 XM_011512925.2:c.1758= XM_011512925.2:c.1758G>A
ATR transcript variant X4 XM_011512925.1:c.1758= XM_011512925.1:c.1758G>A
ATR transcript variant X2 XM_047448360.1:c.1950= XM_047448360.1:c.1950G>A
ATR transcript variant X3 XM_047448361.1:c.1950= XM_047448361.1:c.1950G>A
ATR transcript variant X6 XM_047448363.1:c.1950= XM_047448363.1:c.1950G>A
ATR transcript variant X5 XM_047448362.1:c.1950= XM_047448362.1:c.1950G>A
ATR transcript variant X7 XM_047448364.1:c.1950= XM_047448364.1:c.1950G>A
serine/threonine-protein kinase ATR isoform 1 NP_001175.2:p.Glu650= NP_001175.2:p.Glu650=
serine/threonine-protein kinase ATR isoform 2 NP_001341508.1:p.Glu586= NP_001341508.1:p.Glu586=
serine/threonine-protein kinase ATR isoform X1 XP_011511226.1:p.Glu650= XP_011511226.1:p.Glu650=
serine/threonine-protein kinase ATR isoform X4 XP_011511227.1:p.Glu586= XP_011511227.1:p.Glu586=
serine/threonine-protein kinase ATR isoform X2 XP_047304316.1:p.Glu650= XP_047304316.1:p.Glu650=
serine/threonine-protein kinase ATR isoform X3 XP_047304317.1:p.Glu650= XP_047304317.1:p.Glu650=
serine/threonine-protein kinase ATR isoform X6 XP_047304319.1:p.Glu650= XP_047304319.1:p.Glu650=
serine/threonine-protein kinase ATR isoform X5 XP_047304318.1:p.Glu650= XP_047304318.1:p.Glu650=
serine/threonine-protein kinase ATR isoform X7 XP_047304320.1:p.Glu650= XP_047304320.1:p.Glu650=
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#.

71 SubSNP, 19 Frequency, 3 ClinVar submissions
No Submitter Submission ID Date (Build)
1 ICRCG ss35529074 May 24, 2005 (125)
2 SI_EXO ss71646957 May 18, 2007 (127)
3 CANCER-GENOME ss74801362 Dec 07, 2007 (129)
4 ILLUMINA ss74975413 Dec 07, 2007 (129)
5 KRIBB_YJKIM ss119907120 Dec 01, 2009 (131)
6 ILLUMINA ss173525130 Jul 04, 2010 (132)
7 BUSHMAN ss203277012 Jul 04, 2010 (132)
8 1000GENOMES ss232061199 Jul 14, 2010 (132)
9 NHLBI-ESP ss342149292 May 09, 2011 (134)
10 ILLUMINA ss483789162 May 04, 2012 (137)
11 ILLUMINA ss484473856 May 04, 2012 (137)
12 1000GENOMES ss490875474 May 04, 2012 (137)
13 CLINSEQ_SNP ss491843570 May 04, 2012 (137)
14 ILLUMINA ss535987518 Sep 08, 2015 (146)
15 SSMP ss650719767 Apr 25, 2013 (138)
16 ILLUMINA ss779516751 Sep 08, 2015 (146)
17 ILLUMINA ss782338137 Sep 08, 2015 (146)
18 ILLUMINA ss834987181 Sep 08, 2015 (146)
19 EVA-GONL ss979241268 Aug 21, 2014 (142)
20 JMKIDD_LAB ss1067455969 Aug 21, 2014 (142)
21 JMKIDD_LAB ss1070889501 Aug 21, 2014 (142)
22 1000GENOMES ss1306473402 Aug 21, 2014 (142)
23 CLINVAR ss1457622496 Nov 23, 2014 (142)
24 EVA_GENOME_DK ss1580212199 Apr 01, 2015 (144)
25 EVA_FINRISK ss1584030907 Apr 01, 2015 (144)
26 EVA_DECODE ss1588729892 Apr 01, 2015 (144)
27 EVA_UK10K_ALSPAC ss1608379502 Apr 01, 2015 (144)
28 EVA_UK10K_TWINSUK ss1651373535 Apr 01, 2015 (144)
29 EVA_EXAC ss1687244249 Apr 01, 2015 (144)
30 EVA_MGP ss1711037069 Apr 01, 2015 (144)
31 EVA_SVP ss1712618083 Apr 01, 2015 (144)
32 WEILL_CORNELL_DGM ss1922464691 Feb 12, 2016 (147)
33 JJLAB ss2021802341 Sep 14, 2016 (149)
34 HUMAN_LONGEVITY ss2256478558 Dec 20, 2016 (150)
35 ILLUMINA ss2634021406 Nov 08, 2017 (151)
36 ILLUMINA ss2635125164 Nov 08, 2017 (151)
37 GNOMAD ss2734122753 Nov 08, 2017 (151)
38 GNOMAD ss2747116850 Nov 08, 2017 (151)
39 GNOMAD ss2800034406 Nov 08, 2017 (151)
40 SWEGEN ss2993323281 Nov 08, 2017 (151)
41 ILLUMINA ss3628793729 Oct 12, 2018 (152)
42 ILLUMINA ss3631963625 Oct 12, 2018 (152)
43 ILLUMINA ss3638446382 Oct 12, 2018 (152)
44 ILLUMINA ss3643400996 Oct 12, 2018 (152)
45 OMUKHERJEE_ADBS ss3646294214 Oct 12, 2018 (152)
46 EGCUT_WGS ss3661246954 Jul 13, 2019 (153)
47 EVA_DECODE ss3710441280 Jul 13, 2019 (153)
48 ACPOP ss3730416747 Jul 13, 2019 (153)
49 EVA ss3823964034 Apr 25, 2020 (154)
50 EVA ss3825644313 Apr 25, 2020 (154)
51 EVA ss3828113118 Apr 25, 2020 (154)
52 SGDP_PRJ ss3857134221 Apr 25, 2020 (154)
53 FSA-LAB ss3984264996 Apr 26, 2021 (155)
54 EVA ss3986257708 Apr 26, 2021 (155)
55 EVA ss4017109901 Apr 26, 2021 (155)
56 TOPMED ss4586380538 Apr 26, 2021 (155)
57 EVA ss5237640648 Oct 12, 2022 (156)
58 1000G_HIGH_COVERAGE ss5256300863 Oct 12, 2022 (156)
59 TRAN_CS_UWATERLOO ss5314408494 Oct 12, 2022 (156)
60 EVA ss5343774988 Oct 12, 2022 (156)
61 CSS-BFX ss5442108108 Oct 12, 2022 (156)
62 HUGCELL_USP ss5455411150 Oct 12, 2022 (156)
63 EVA ss5507230462 Oct 12, 2022 (156)
64 1000G_HIGH_COVERAGE ss5535882499 Oct 12, 2022 (156)
65 SANFORD_IMAGENETICS ss5633343441 Oct 12, 2022 (156)
66 EVA ss5826584844 Oct 12, 2022 (156)
67 EVA ss5848594628 Oct 12, 2022 (156)
68 EVA ss5871318305 Oct 12, 2022 (156)
69 EVA ss5935682692 Oct 12, 2022 (156)
70 EVA ss5936522816 Oct 12, 2022 (156)
71 EVA ss5961700528 Oct 12, 2022 (156)
72 1000Genomes NC_000003.11 - 142275353 Oct 12, 2018 (152)
73 1000Genomes_30x NC_000003.12 - 142556511 Oct 12, 2022 (156)
74 The Avon Longitudinal Study of Parents and Children NC_000003.11 - 142275353 Oct 12, 2018 (152)
75 Genetic variation in the Estonian population NC_000003.11 - 142275353 Oct 12, 2018 (152)
76 ExAC NC_000003.11 - 142275353 Oct 12, 2018 (152)
77 FINRISK NC_000003.11 - 142275353 Apr 25, 2020 (154)
78 The Danish reference pan genome NC_000003.11 - 142275353 Apr 25, 2020 (154)
79 gnomAD - Genomes NC_000003.12 - 142556511 Apr 26, 2021 (155)
80 gnomAD - Exomes NC_000003.11 - 142275353 Jul 13, 2019 (153)
81 GO Exome Sequencing Project NC_000003.11 - 142275353 Oct 12, 2018 (152)
82 Genome of the Netherlands Release 5 NC_000003.11 - 142275353 Apr 25, 2020 (154)
83 HapMap NC_000003.12 - 142556511 Apr 25, 2020 (154)
84 Medical Genome Project healthy controls from Spanish population NC_000003.11 - 142275353 Apr 25, 2020 (154)
85 Northern Sweden NC_000003.11 - 142275353 Jul 13, 2019 (153)
86 Qatari NC_000003.11 - 142275353 Apr 25, 2020 (154)
87 SGDP_PRJ NC_000003.11 - 142275353 Apr 25, 2020 (154)
88 TopMed NC_000003.12 - 142556511 Apr 26, 2021 (155)
89 UK 10K study - Twins NC_000003.11 - 142275353 Oct 12, 2018 (152)
90 ALFA NC_000003.12 - 142556511 Apr 26, 2021 (155)
91 ClinVar RCV000145294.5 Oct 12, 2022 (156)
92 ClinVar RCV000398572.4 Oct 12, 2022 (156)
93 ClinVar RCV000588919.11 Oct 12, 2022 (156)
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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss203277012, ss484473856, ss491843570, ss1588729892, ss1712618083, ss2635125164, ss3643400996 NC_000003.10:143758042:C:T NC_000003.12:142556510:C:T (self)
17747406, 9883928, 6985202, 7186547, 27368, 6377138, 3212420, 422324, 4340908, 152829, 3701612, 4506621, 9151201, 9883928, ss232061199, ss342149292, ss483789162, ss490875474, ss535987518, ss650719767, ss779516751, ss782338137, ss834987181, ss979241268, ss1067455969, ss1070889501, ss1306473402, ss1580212199, ss1584030907, ss1608379502, ss1651373535, ss1687244249, ss1711037069, ss1922464691, ss2021802341, ss2634021406, ss2734122753, ss2747116850, ss2800034406, ss2993323281, ss3628793729, ss3631963625, ss3638446382, ss3646294214, ss3661246954, ss3730416747, ss3823964034, ss3825644313, ss3828113118, ss3857134221, ss3984264996, ss3986257708, ss4017109901, ss5343774988, ss5442108108, ss5507230462, ss5633343441, ss5826584844, ss5848594628, ss5935682692, ss5936522816, ss5961700528 NC_000003.11:142275352:C:T NC_000003.12:142556510:C:T (self)
RCV000145294.5, RCV000398572.4, RCV000588919.11, 23408434, 126108337, 2472316, 423758093, 10084695789, ss1457622496, ss2256478558, ss3710441280, ss4586380538, ss5237640648, ss5256300863, ss5314408494, ss5455411150, ss5535882499, ss5871318305 NC_000003.12:142556510:C:T NC_000003.12:142556510:C:T (self)
ss35529074, ss71646957, ss74801362, ss74975413, ss119907120, ss173525130 NT_005612.16:48770498:C:T NC_000003.12:142556510:C:T (self)
Help

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

2 citations for rs28910270
PMID Title Author Year Journal
17010193 Mutation analysis and characterization of ATR sequence variants in breast cancer cases from high-risk French Canadian breast/ovarian cancer families. Durocher F et al. 2006 BMC cancer
18414213 ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007. Richards CS et al. 2008 Genetics in medicine
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.post761+d5e8e07