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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs1092913

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr5:10467590 (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
G>A
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.216952 (57425/264690, TOPMED)
A=0.145270 (28886/198844, ALFA)
A=0.186798 (26170/140098, GnomAD) (+ 20 more)
A=0.32693 (25726/78690, PAGE_STUDY)
G=0.34479 (9743/28258, 14KJPN)
G=0.34761 (5826/16760, 8.3KJPN)
A=0.3554 (2276/6404, 1000G_30x)
A=0.3590 (1798/5008, 1000G)
A=0.1125 (504/4480, Estonian)
A=0.1087 (419/3854, ALSPAC)
A=0.1195 (443/3708, TWINSUK)
G=0.2990 (876/2930, KOREAN)
A=0.3455 (651/1884, HapMap)
A=0.102 (102/998, GoNL)
G=0.297 (235/790, PRJEB37584)
A=0.393 (246/626, Chileans)
A=0.100 (60/600, NorthernSweden)
G=0.289 (96/332, SGDP_PRJ)
A=0.102 (22/216, Qatari)
G=0.385 (80/208, Vietnamese)
A=0.03 (2/60, Ancient Sardinia)
A=0.10 (4/40, GENOME_DK)
G=0.37 (11/30, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ROPN1L : Intron Variant
Publications
7 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 199058 G=0.854751 A=0.145249
European Sub 172422 G=0.891313 A=0.108687
African Sub 5030 G=0.7565 A=0.2435
African Others Sub 180 G=0.733 A=0.267
African American Sub 4850 G=0.7573 A=0.2427
Asian Sub 6386 G=0.3000 A=0.7000
East Asian Sub 4536 G=0.3034 A=0.6966
Other Asian Sub 1850 G=0.2919 A=0.7081
Latin American 1 Sub 584 G=0.824 A=0.176
Latin American 2 Sub 3088 G=0.6185 A=0.3815
South Asian Sub 292 G=0.685 A=0.315
Other Sub 11256 G=0.72415 A=0.27585


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 G=0.783048 A=0.216952
Allele Frequency Aggregator Total Global 198844 G=0.854730 A=0.145270
Allele Frequency Aggregator European Sub 172244 G=0.891317 A=0.108683
Allele Frequency Aggregator Other Sub 11234 G=0.72396 A=0.27604
Allele Frequency Aggregator Asian Sub 6386 G=0.3000 A=0.7000
Allele Frequency Aggregator African Sub 5016 G=0.7564 A=0.2436
Allele Frequency Aggregator Latin American 2 Sub 3088 G=0.6185 A=0.3815
Allele Frequency Aggregator Latin American 1 Sub 584 G=0.824 A=0.176
Allele Frequency Aggregator South Asian Sub 292 G=0.685 A=0.315
gnomAD - Genomes Global Study-wide 140098 G=0.813202 A=0.186798
gnomAD - Genomes European Sub 75908 G=0.89201 A=0.10799
gnomAD - Genomes African Sub 41942 G=0.74322 A=0.25678
gnomAD - Genomes American Sub 13650 G=0.69458 A=0.30542
gnomAD - Genomes Ashkenazi Jewish Sub 3322 G=0.8483 A=0.1517
gnomAD - Genomes East Asian Sub 3124 G=0.3364 A=0.6636
gnomAD - Genomes Other Sub 2152 G=0.7876 A=0.2124
The PAGE Study Global Study-wide 78690 G=0.67307 A=0.32693
The PAGE Study AfricanAmerican Sub 32504 G=0.74763 A=0.25237
The PAGE Study Mexican Sub 10810 G=0.56549 A=0.43451
The PAGE Study Asian Sub 8318 G=0.3631 A=0.6369
The PAGE Study PuertoRican Sub 7918 G=0.7960 A=0.2040
The PAGE Study NativeHawaiian Sub 4534 G=0.5492 A=0.4508
The PAGE Study Cuban Sub 4230 G=0.8475 A=0.1525
The PAGE Study Dominican Sub 3828 G=0.7714 A=0.2286
The PAGE Study CentralAmerican Sub 2450 G=0.6016 A=0.3984
The PAGE Study SouthAmerican Sub 1982 G=0.5984 A=0.4016
The PAGE Study NativeAmerican Sub 1260 G=0.7484 A=0.2516
The PAGE Study SouthAsian Sub 856 G=0.696 A=0.304
14KJPN JAPANESE Study-wide 28258 G=0.34479 A=0.65521
8.3KJPN JAPANESE Study-wide 16760 G=0.34761 A=0.65239
1000Genomes_30x Global Study-wide 6404 G=0.6446 A=0.3554
1000Genomes_30x African Sub 1786 G=0.6725 A=0.3275
1000Genomes_30x Europe Sub 1266 G=0.9060 A=0.0940
1000Genomes_30x South Asian Sub 1202 G=0.6556 A=0.3444
1000Genomes_30x East Asian Sub 1170 G=0.3094 A=0.6906
1000Genomes_30x American Sub 980 G=0.643 A=0.357
1000Genomes Global Study-wide 5008 G=0.6410 A=0.3590
1000Genomes African Sub 1322 G=0.6778 A=0.3222
1000Genomes East Asian Sub 1008 G=0.3135 A=0.6865
1000Genomes Europe Sub 1006 G=0.9026 A=0.0974
1000Genomes South Asian Sub 978 G=0.658 A=0.342
1000Genomes American Sub 694 G=0.643 A=0.357
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.8875 A=0.1125
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.8913 A=0.1087
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.8805 A=0.1195
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.2990 A=0.7010
HapMap Global Study-wide 1884 G=0.6545 A=0.3455
HapMap American Sub 764 G=0.643 A=0.357
HapMap African Sub 692 G=0.704 A=0.296
HapMap Asian Sub 252 G=0.365 A=0.635
HapMap Europe Sub 176 G=0.926 A=0.074
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.898 A=0.102
CNV burdens in cranial meningiomas Global Study-wide 790 G=0.297 A=0.703
CNV burdens in cranial meningiomas CRM Sub 790 G=0.297 A=0.703
Chileans Chilean Study-wide 626 G=0.607 A=0.393
Northern Sweden ACPOP Study-wide 600 G=0.900 A=0.100
SGDP_PRJ Global Study-wide 332 G=0.289 A=0.711
Qatari Global Study-wide 216 G=0.898 A=0.102
A Vietnamese Genetic Variation Database Global Study-wide 208 G=0.385 A=0.615
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 60 G=0.97 A=0.03
The Danish reference pan genome Danish Study-wide 40 G=0.90 A=0.10
Siberian Global Study-wide 30 G=0.37 A=0.63
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 5 NC_000005.10:g.10467590G>A
GRCh37.p13 chr 5 NC_000005.9:g.10467702G>A
Gene: ROPN1L, rhophilin associated tail protein 1 like (plus strand)
Molecule type Change Amino acid[Codon] SO Term
ROPN1L transcript variant 2 NM_001201466.2:c. N/A Genic Downstream Transcript Variant
ROPN1L transcript variant 1 NM_031916.5:c. N/A Genic Downstream Transcript Variant
ROPN1L transcript variant X1 XM_006714504.4:c.593+6231…

XM_006714504.4:c.593+6231G>A

 		N/A Intron Variant
ROPN1L transcript variant X2 XM_017009946.3:c.594-4220…

XM_017009946.3:c.594-4220G>A

 		N/A Intron Variant
ROPN1L transcript variant X4 XM_017009947.3:c.593+6231…

XM_017009947.3:c.593+6231G>A

 		N/A Intron Variant
ROPN1L transcript variant X3 XM_047417808.1:c.594-4220…

XM_047417808.1:c.594-4220G>A

 		N/A Intron 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
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.p14 chr 5 NC_000005.10:g.10467590= NC_000005.10:g.10467590G>A
GRCh37.p13 chr 5 NC_000005.9:g.10467702= NC_000005.9:g.10467702G>A
ROPN1L transcript variant X1 XM_006714504.4:c.593+6231= XM_006714504.4:c.593+6231G>A
ROPN1L transcript variant X2 XM_017009946.3:c.594-4220= XM_017009946.3:c.594-4220G>A
ROPN1L transcript variant X4 XM_017009947.3:c.593+6231= XM_017009947.3:c.593+6231G>A
ROPN1L transcript variant X3 XM_047417808.1:c.594-4220= XM_047417808.1:c.594-4220G>A
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#.

88 SubSNP, 23 Frequency submissions
No Submitter Submission ID Date (Build)
1 KWOK ss1069956 Oct 13, 2000 (86)
2 SC_JCM ss3604653 Sep 28, 2001 (126)
3 CSHL-HAPMAP ss20240012 Feb 28, 2004 (123)
4 ABI ss42406574 Mar 11, 2006 (126)
5 AFFY ss66133967 Nov 30, 2006 (127)
6 AFFY ss76143639 Dec 07, 2007 (129)
7 KRIBB_YJKIM ss81453683 Dec 15, 2007 (130)
8 1000GENOMES ss111421918 Jan 25, 2009 (130)
9 GMI ss155038301 Dec 01, 2009 (131)
10 COMPLETE_GENOMICS ss164219207 Jul 04, 2010 (132)
11 AFFY ss172628633 Jul 04, 2010 (132)
12 BUSHMAN ss199878049 Jul 04, 2010 (132)
13 1000GENOMES ss221515871 Jul 14, 2010 (132)
14 1000GENOMES ss232828010 Jul 14, 2010 (132)
15 1000GENOMES ss240025556 Jul 15, 2010 (132)
16 GMI ss278167356 May 04, 2012 (137)
17 EXOME_CHIP ss491364499 May 04, 2012 (137)
18 TISHKOFF ss558203093 Apr 25, 2013 (138)
19 SSMP ss652047103 Apr 25, 2013 (138)
20 ILLUMINA ss780680815 Sep 08, 2015 (146)
21 ILLUMINA ss783354106 Sep 08, 2015 (146)
22 EVA-GONL ss981246384 Aug 21, 2014 (142)
23 JMKIDD_LAB ss1072388602 Aug 21, 2014 (142)
24 1000GENOMES ss1313895295 Aug 21, 2014 (142)
25 EVA_GENOME_DK ss1581011650 Apr 01, 2015 (144)
26 EVA_DECODE ss1590762456 Apr 01, 2015 (144)
27 EVA_UK10K_ALSPAC ss1612271236 Apr 01, 2015 (144)
28 EVA_UK10K_TWINSUK ss1655265269 Apr 01, 2015 (144)
29 EVA_SVP ss1712744063 Apr 01, 2015 (144)
30 ILLUMINA ss1752540337 Sep 08, 2015 (146)
31 HAMMER_LAB ss1803057601 Sep 08, 2015 (146)
32 ILLUMINA ss1917788042 Feb 12, 2016 (147)
33 WEILL_CORNELL_DGM ss1924506766 Feb 12, 2016 (147)
34 ILLUMINA ss1946138388 Feb 12, 2016 (147)
35 ILLUMINA ss1958766690 Feb 12, 2016 (147)
36 GENOMED ss1970012916 Jul 19, 2016 (147)
37 JJLAB ss2022851018 Sep 14, 2016 (149)
38 USC_VALOUEV ss2151000128 Dec 20, 2016 (150)
39 HUMAN_LONGEVITY ss2271356312 Dec 20, 2016 (150)
40 SYSTEMSBIOZJU ss2625924786 Nov 08, 2017 (151)
41 ILLUMINA ss2634245932 Nov 08, 2017 (151)
42 ILLUMINA ss2634245933 Nov 08, 2017 (151)
43 GRF ss2706525519 Nov 08, 2017 (151)
44 ILLUMINA ss2711030330 Nov 08, 2017 (151)
45 GNOMAD ss2821121542 Nov 08, 2017 (151)
46 AFFY ss2985315696 Nov 08, 2017 (151)
47 AFFY ss2985944742 Nov 08, 2017 (151)
48 SWEGEN ss2996434897 Nov 08, 2017 (151)
49 ILLUMINA ss3022466007 Nov 08, 2017 (151)
50 CSHL ss3346242475 Nov 08, 2017 (151)
51 ILLUMINA ss3629177743 Oct 12, 2018 (152)
52 ILLUMINA ss3634991227 Oct 12, 2018 (152)
53 ILLUMINA ss3640698520 Oct 12, 2018 (152)
54 ILLUMINA ss3644871273 Oct 12, 2018 (152)
55 BIOINF_KMB_FNS_UNIBA ss3645860121 Oct 12, 2018 (152)
56 ILLUMINA ss3652958868 Oct 12, 2018 (152)
57 ILLUMINA ss3654088464 Oct 12, 2018 (152)
58 EGCUT_WGS ss3664326032 Jul 13, 2019 (153)
59 EVA_DECODE ss3714099600 Jul 13, 2019 (153)
60 ILLUMINA ss3726213017 Jul 13, 2019 (153)
61 ACPOP ss3732087876 Jul 13, 2019 (153)
62 ILLUMINA ss3744533417 Jul 13, 2019 (153)
63 ILLUMINA ss3745291353 Jul 13, 2019 (153)
64 EVA ss3763064540 Jul 13, 2019 (153)
65 PAGE_CC ss3771186594 Jul 13, 2019 (153)
66 ILLUMINA ss3772785723 Jul 13, 2019 (153)
67 KHV_HUMAN_GENOMES ss3806231469 Jul 13, 2019 (153)
68 EVA ss3829094549 Apr 26, 2020 (154)
69 SGDP_PRJ ss3861208595 Apr 26, 2020 (154)
70 KRGDB ss3907651453 Apr 26, 2020 (154)
71 EVA ss3984542988 Apr 26, 2021 (155)
72 EVA ss3985125197 Apr 26, 2021 (155)
73 TOPMED ss4649513704 Apr 26, 2021 (155)
74 TOMMO_GENOMICS ss5170368685 Apr 26, 2021 (155)
75 1000G_HIGH_COVERAGE ss5262869128 Oct 13, 2022 (156)
76 EVA ss5315032361 Oct 13, 2022 (156)
77 EVA ss5355639115 Oct 13, 2022 (156)
78 HUGCELL_USP ss5461216566 Oct 13, 2022 (156)
79 EVA ss5507913332 Oct 13, 2022 (156)
80 1000G_HIGH_COVERAGE ss5545913732 Oct 13, 2022 (156)
81 SANFORD_IMAGENETICS ss5624582326 Oct 13, 2022 (156)
82 SANFORD_IMAGENETICS ss5637180644 Oct 13, 2022 (156)
83 TOMMO_GENOMICS ss5706038657 Oct 13, 2022 (156)
84 YY_MCH ss5806019629 Oct 13, 2022 (156)
85 EVA ss5834516434 Oct 13, 2022 (156)
86 EVA ss5854681883 Oct 13, 2022 (156)
87 EVA ss5892982930 Oct 13, 2022 (156)
88 EVA ss5965592082 Oct 13, 2022 (156)
89 1000Genomes NC_000005.9 - 10467702 Oct 12, 2018 (152)
90 1000Genomes_30x NC_000005.10 - 10467590 Oct 13, 2022 (156)
91 The Avon Longitudinal Study of Parents and Children NC_000005.9 - 10467702 Oct 12, 2018 (152)
92 Chileans NC_000005.9 - 10467702 Apr 26, 2020 (154)
93 Genetic variation in the Estonian population NC_000005.9 - 10467702 Oct 12, 2018 (152)
94 The Danish reference pan genome NC_000005.9 - 10467702 Apr 26, 2020 (154)
95 gnomAD - Genomes NC_000005.10 - 10467590 Apr 26, 2021 (155)
96 Genome of the Netherlands Release 5 NC_000005.9 - 10467702 Apr 26, 2020 (154)
97 HapMap NC_000005.10 - 10467590 Apr 26, 2020 (154)
98 KOREAN population from KRGDB NC_000005.9 - 10467702 Apr 26, 2020 (154)
99 Northern Sweden NC_000005.9 - 10467702 Jul 13, 2019 (153)
100 The PAGE Study NC_000005.10 - 10467590 Jul 13, 2019 (153)
101 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000005.9 - 10467702 Apr 26, 2021 (155)
102 CNV burdens in cranial meningiomas NC_000005.9 - 10467702 Apr 26, 2021 (155)
103 Qatari NC_000005.9 - 10467702 Apr 26, 2020 (154)
104 SGDP_PRJ NC_000005.9 - 10467702 Apr 26, 2020 (154)
105 Siberian NC_000005.9 - 10467702 Apr 26, 2020 (154)
106 8.3KJPN NC_000005.9 - 10467702 Apr 26, 2021 (155)
107 14KJPN NC_000005.10 - 10467590 Oct 13, 2022 (156)
108 TopMed NC_000005.10 - 10467590 Apr 26, 2021 (155)
109 UK 10K study - Twins NC_000005.9 - 10467702 Oct 12, 2018 (152)
110 A Vietnamese Genetic Variation Database NC_000005.9 - 10467702 Jul 13, 2019 (153)
111 ALFA NC_000005.10 - 10467590 Apr 26, 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)
rs2567571 Mar 11, 2006 (126)
rs12654764 Sep 24, 2004 (123)
rs60703586 Feb 26, 2009 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss111421918, ss164219207, ss199878049, ss278167356, ss1590762456, ss1712744063 NC_000005.8:10520701:G:A NC_000005.10:10467589:G:A (self)
25449662, 14161372, 339372, 10064280, 7176589, 6287694, 14828847, 5372741, 351124, 92352, 6548696, 13225575, 3516482, 28337992, 14161372, 3142001, ss221515871, ss232828010, ss240025556, ss491364499, ss558203093, ss652047103, ss780680815, ss783354106, ss981246384, ss1072388602, ss1313895295, ss1581011650, ss1612271236, ss1655265269, ss1752540337, ss1803057601, ss1917788042, ss1924506766, ss1946138388, ss1958766690, ss1970012916, ss2022851018, ss2151000128, ss2625924786, ss2634245932, ss2634245933, ss2706525519, ss2711030330, ss2821121542, ss2985315696, ss2985944742, ss2996434897, ss3022466007, ss3346242475, ss3629177743, ss3634991227, ss3640698520, ss3644871273, ss3652958868, ss3654088464, ss3664326032, ss3732087876, ss3744533417, ss3745291353, ss3763064540, ss3772785723, ss3829094549, ss3861208595, ss3907651453, ss3984542988, ss3985125197, ss5170368685, ss5315032361, ss5355639115, ss5507913332, ss5624582326, ss5637180644, ss5834516434, ss5965592082 NC_000005.9:10467701:G:A NC_000005.10:10467589:G:A (self)
33439667, 179844195, 2808933, 408063, 39875761, 486891261, 2833267737, ss2271356312, ss3645860121, ss3714099600, ss3726213017, ss3771186594, ss3806231469, ss4649513704, ss5262869128, ss5461216566, ss5545913732, ss5706038657, ss5806019629, ss5854681883, ss5892982930 NC_000005.10:10467589:G:A NC_000005.10:10467589:G:A (self)
ss1069956, ss3604653, ss42406574, ss66133967, ss76143639, ss81453683, ss155038301, ss172628633 NT_006576.16:10457701:G:A NC_000005.10:10467589:G:A (self)
ss20240012 NT_023089.13:10450439:G:A NC_000005.10:10467589:G:A (self)
Help

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

7 citations for rs1092913
PMID Title Author Year Journal
21424380 Potential novel candidate polymorphisms identified in genome-wide association study for breast cancer susceptibility. Sehrawat B et al. 2011 Human genetics
22276117 The association between ATM IVS 22-77 T>C and cancer risk: a meta-analysis. Zhao L et al. 2012 PloS one
22452962 A genome-wide association study identifies a breast cancer risk variant in ERBB4 at 2q34: results from the Seoul Breast Cancer Study. Kim HC et al. 2012 Breast cancer research
23717390 Identification of a breast cancer susceptibility locus at 4q31.22 using a genome-wide association study paradigm. Sapkota Y et al. 2013 PloS one
24025454 Hereditary breast cancer: ever more pieces to the polygenic puzzle. Bogdanova N et al. 2013 Hereditary cancer in clinical practice
24244489 A common variant in the SIAH2 locus is associated with estrogen receptor-positive breast cancer in the Chinese Han population. Zhang B et al. 2013 PloS one
31125336 Evaluation of significant genome-wide association studies risk - SNPs in young breast cancer patients. Rath M et al. 2019 PloS one
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