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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.

rs520354

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr2:21036740 (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
A>C / A>G / A>T
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.374857 (99221/264690, TOPMED)
G=0.453721 (72991/160872, ALFA)
G=0.387830 (54304/140020, GnomAD) (+ 18 more)
A=0.12220 (2048/16760, 8.3KJPN)
G=0.4928 (2468/5008, 1000G)
A=0.4866 (2180/4480, Estonian)
G=0.4751 (1831/3854, ALSPAC)
G=0.4628 (1716/3708, TWINSUK)
A=0.1396 (409/2930, KOREAN)
G=0.4445 (841/1892, HapMap)
A=0.4616 (517/1120, Daghestan)
G=0.451 (450/998, GoNL)
A=0.149 (118/790, PRJEB37584)
G=0.406 (254/626, Chileans)
G=0.432 (259/600, NorthernSweden)
A=0.253 (99/392, SGDP_PRJ)
G=0.280 (104/372, PharmGKB)
G=0.407 (88/216, Qatari)
A=0.193 (41/212, Vietnamese)
A=0.47 (19/40, GENOME_DK)
A=0.33 (13/40, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
APOB : Intron Variant
Publications
7 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 2 NC_000002.12:g.21036740A>C
GRCh38.p13 chr 2 NC_000002.12:g.21036740A>G
GRCh38.p13 chr 2 NC_000002.12:g.21036740A>T
GRCh37.p13 chr 2 NC_000002.11:g.21259612A>C
GRCh37.p13 chr 2 NC_000002.11:g.21259612A>G
GRCh37.p13 chr 2 NC_000002.11:g.21259612A>T
APOB RefSeqGene NG_011793.1:g.12334T>G
APOB RefSeqGene NG_011793.1:g.12334T>C
APOB RefSeqGene NG_011793.1:g.12334T>A
Gene: APOB, apolipoprotein B (minus strand)
Molecule type Change Amino acid[Codon] SO Term
APOB transcript NM_000384.3:c.693+360T>G 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

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 160872 A=0.546279 G=0.453721
European Sub 140300 A=0.532438 G=0.467562
African Sub 7352 A=0.8198 G=0.1802
African Others Sub 254 A=0.886 G=0.114
African American Sub 7098 A=0.8174 G=0.1826
Asian Sub 724 A=0.153 G=0.847
East Asian Sub 560 A=0.136 G=0.864
Other Asian Sub 164 A=0.213 G=0.787
Latin American 1 Sub 838 A=0.658 G=0.342
Latin American 2 Sub 4416 A=0.5815 G=0.4185
South Asian Sub 198 A=0.399 G=0.601
Other Sub 7044 A=0.5457 G=0.4543


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 A=0.625143 G=0.374857
gnomAD - Genomes Global Study-wide 140020 A=0.612170 G=0.387830
gnomAD - Genomes European Sub 75846 A=0.51622 G=0.48378
gnomAD - Genomes African Sub 41942 A=0.81801 G=0.18199
gnomAD - Genomes American Sub 13650 A=0.61993 G=0.38007
gnomAD - Genomes Ashkenazi Jewish Sub 3320 A=0.6241 G=0.3759
gnomAD - Genomes East Asian Sub 3116 A=0.1505 G=0.8495
gnomAD - Genomes Other Sub 2146 A=0.5829 G=0.4171
8.3KJPN JAPANESE Study-wide 16760 A=0.12220 G=0.87780
1000Genomes Global Study-wide 5008 A=0.5072 G=0.4928
1000Genomes African Sub 1322 A=0.8616 G=0.1384
1000Genomes East Asian Sub 1008 A=0.1319 G=0.8681
1000Genomes Europe Sub 1006 A=0.5239 G=0.4761
1000Genomes South Asian Sub 978 A=0.331 G=0.669
1000Genomes American Sub 694 A=0.601 G=0.399
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.4866 G=0.5134
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.5249 G=0.4751
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.5372 G=0.4628
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.1396 C=0.0000, G=0.8604, T=0.0000
HapMap Global Study-wide 1892 A=0.5555 G=0.4445
HapMap American Sub 770 A=0.451 G=0.549
HapMap African Sub 692 A=0.834 G=0.166
HapMap Asian Sub 254 A=0.134 G=0.866
HapMap Europe Sub 176 A=0.528 G=0.472
Genome-wide autozygosity in Daghestan Global Study-wide 1120 A=0.4616 G=0.5384
Genome-wide autozygosity in Daghestan Daghestan Sub 614 A=0.476 G=0.524
Genome-wide autozygosity in Daghestan Near_East Sub 144 A=0.500 G=0.500
Genome-wide autozygosity in Daghestan Central Asia Sub 122 A=0.385 G=0.615
Genome-wide autozygosity in Daghestan Europe Sub 108 A=0.528 G=0.472
Genome-wide autozygosity in Daghestan South Asian Sub 98 A=0.32 G=0.68
Genome-wide autozygosity in Daghestan Caucasus Sub 34 A=0.53 G=0.47
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.549 G=0.451
CNV burdens in cranial meningiomas Global Study-wide 790 A=0.149 G=0.851
CNV burdens in cranial meningiomas CRM Sub 790 A=0.149 G=0.851
Chileans Chilean Study-wide 626 A=0.594 G=0.406
Northern Sweden ACPOP Study-wide 600 A=0.568 G=0.432
SGDP_PRJ Global Study-wide 392 A=0.253 G=0.747
PharmGKB Aggregated Global Study-wide 372 A=0.720 G=0.280
PharmGKB Aggregated PA128751972 Sub 94 A=0.72 G=0.28
PharmGKB Aggregated PA128752207 Sub 94 A=0.72 G=0.28
PharmGKB Aggregated PA151856344 Sub 92 A=0.72 G=0.28
PharmGKB Aggregated PA151856579 Sub 92 A=0.72 G=0.28
Qatari Global Study-wide 216 A=0.593 G=0.407
A Vietnamese Genetic Variation Database Global Study-wide 212 A=0.193 G=0.807
The Danish reference pan genome Danish Study-wide 40 A=0.47 G=0.53
Siberian Global Study-wide 40 A=0.33 G=0.68
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 A= C G T
GRCh38.p13 chr 2 NC_000002.12:g.21036740= NC_000002.12:g.21036740A>C NC_000002.12:g.21036740A>G NC_000002.12:g.21036740A>T
GRCh37.p13 chr 2 NC_000002.11:g.21259612= NC_000002.11:g.21259612A>C NC_000002.11:g.21259612A>G NC_000002.11:g.21259612A>T
APOB RefSeqGene NG_011793.1:g.12334= NG_011793.1:g.12334T>G NG_011793.1:g.12334T>C NG_011793.1:g.12334T>A
APOB transcript NM_000384.2:c.693+360= NM_000384.2:c.693+360T>G NM_000384.2:c.693+360T>C NM_000384.2:c.693+360T>A
APOB transcript NM_000384.3:c.693+360= NM_000384.3:c.693+360T>G NM_000384.3:c.693+360T>C NM_000384.3:c.693+360T>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#.

110 SubSNP, 21 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_JCM ss690678 Aug 11, 2000 (83)
2 YUSUKE ss4978354 Aug 28, 2002 (108)
3 SNP500CANCER ss8819683 Jul 02, 2003 (116)
4 CSHL-HAPMAP ss19465233 Feb 27, 2004 (120)
5 CSHL-HAPMAP ss20116495 Feb 27, 2004 (120)
6 SSAHASNP ss21734734 Apr 05, 2004 (121)
7 PARC ss23143772 Sep 20, 2004 (126)
8 ABI ss44302689 Mar 11, 2006 (126)
9 ILLUMINA ss65718958 Oct 14, 2006 (127)
10 AFFY ss66200668 Nov 29, 2006 (127)
11 CSHL-HAPMAP ss68364465 Jan 12, 2007 (127)
12 PHARMGKB_PARC ss69369378 May 16, 2007 (127)
13 PHARMGKB_PARC ss69369379 May 16, 2007 (127)
14 ILLUMINA ss74904936 Dec 07, 2007 (129)
15 AFFY ss76287693 Dec 07, 2007 (129)
16 HGSV ss78268237 Dec 07, 2007 (129)
17 KRIBB_YJKIM ss81424911 Dec 16, 2007 (130)
18 HGSV ss82843066 Dec 15, 2007 (130)
19 PHARMGKB_PARC ss84144017 Dec 15, 2007 (130)
20 PHARMGKB_PARC ss84144027 Dec 15, 2007 (130)
21 HUMANGENOME_JCVI ss97019528 Feb 05, 2009 (130)
22 KRIBB_YJKIM ss102644313 Feb 05, 2009 (130)
23 BGI ss106074455 Feb 05, 2009 (130)
24 1000GENOMES ss109290533 Jan 23, 2009 (130)
25 1000GENOMES ss109938290 Jan 24, 2009 (130)
26 ILLUMINA ss120244566 Dec 01, 2009 (131)
27 ENSEMBL ss132907384 Dec 01, 2009 (131)
28 GMI ss156788121 Dec 01, 2009 (131)
29 ILLUMINA ss160739207 Dec 01, 2009 (131)
30 COMPLETE_GENOMICS ss163180360 Jul 04, 2010 (132)
31 COMPLETE_GENOMICS ss163984406 Jul 04, 2010 (132)
32 AFFY ss173133120 Jul 04, 2010 (132)
33 ILLUMINA ss173911971 Jul 04, 2010 (132)
34 1000GENOMES ss219112791 Jul 14, 2010 (132)
35 1000GENOMES ss231070860 Jul 14, 2010 (132)
36 1000GENOMES ss238648601 Jul 15, 2010 (132)
37 ILLUMINA ss244302881 Jul 04, 2010 (132)
38 GMI ss276380986 May 04, 2012 (137)
39 PJP ss292525080 May 09, 2011 (134)
40 ILLUMINA ss410831608 Sep 17, 2011 (135)
41 ILLUMINA ss481135956 May 04, 2012 (137)
42 ILLUMINA ss481158105 May 04, 2012 (137)
43 ILLUMINA ss482147406 Sep 08, 2015 (146)
44 ILLUMINA ss485363046 May 04, 2012 (137)
45 ILLUMINA ss537306784 Sep 08, 2015 (146)
46 TISHKOFF ss555407853 Apr 25, 2013 (138)
47 SSMP ss648986498 Apr 25, 2013 (138)
48 ILLUMINA ss778556751 Sep 08, 2015 (146)
49 ILLUMINA ss783127198 Sep 08, 2015 (146)
50 ILLUMINA ss784083781 Sep 08, 2015 (146)
51 ILLUMINA ss832386052 Sep 08, 2015 (146)
52 ILLUMINA ss834013563 Sep 08, 2015 (146)
53 EVA-GONL ss976570978 Aug 21, 2014 (142)
54 JMKIDD_LAB ss1068922810 Aug 21, 2014 (142)
55 1000GENOMES ss1296218897 Aug 21, 2014 (142)
56 HAMMER_LAB ss1397285073 Sep 08, 2015 (146)
57 DDI ss1428503016 Apr 01, 2015 (144)
58 EVA_GENOME_DK ss1578774051 Apr 01, 2015 (144)
59 EVA_DECODE ss1585972997 Apr 01, 2015 (144)
60 EVA_UK10K_ALSPAC ss1602976034 Apr 01, 2015 (144)
61 EVA_UK10K_TWINSUK ss1645970067 Apr 01, 2015 (144)
62 EVA_SVP ss1712437434 Apr 01, 2015 (144)
63 ILLUMINA ss1752336819 Sep 08, 2015 (146)
64 HAMMER_LAB ss1796398849 Sep 08, 2015 (146)
65 WEILL_CORNELL_DGM ss1919804712 Feb 12, 2016 (147)
66 GENOMED ss1968713775 Jul 19, 2016 (147)
67 JJLAB ss2020429548 Sep 14, 2016 (149)
68 USC_VALOUEV ss2148474102 Dec 20, 2016 (150)
69 HUMAN_LONGEVITY ss2228150173 Dec 20, 2016 (150)
70 TOPMED ss2394063231 Dec 20, 2016 (150)
71 SYSTEMSBIOZJU ss2624731651 Nov 08, 2017 (151)
72 ILLUMINA ss2633582643 Nov 08, 2017 (151)
73 GRF ss2703034104 Nov 08, 2017 (151)
74 ILLUMINA ss2710893496 Nov 08, 2017 (151)
75 GNOMAD ss2770589614 Nov 08, 2017 (151)
76 SWEGEN ss2989102276 Nov 08, 2017 (151)
77 BIOINF_KMB_FNS_UNIBA ss3023982336 Nov 08, 2017 (151)
78 TOPMED ss3301262416 Nov 08, 2017 (151)
79 CSHL ss3344112480 Nov 08, 2017 (151)
80 ILLUMINA ss3628009339 Oct 11, 2018 (152)
81 ILLUMINA ss3631551425 Oct 11, 2018 (152)
82 ILLUMINA ss3633191720 Oct 11, 2018 (152)
83 ILLUMINA ss3633902997 Oct 11, 2018 (152)
84 ILLUMINA ss3634754785 Oct 11, 2018 (152)
85 ILLUMINA ss3635589468 Oct 11, 2018 (152)
86 ILLUMINA ss3636440942 Oct 11, 2018 (152)
87 ILLUMINA ss3637341287 Oct 11, 2018 (152)
88 ILLUMINA ss3638246591 Oct 11, 2018 (152)
89 ILLUMINA ss3640462089 Oct 11, 2018 (152)
90 ILLUMINA ss3643217772 Oct 11, 2018 (152)
91 URBANLAB ss3646982742 Oct 11, 2018 (152)
92 EGCUT_WGS ss3657054834 Jul 12, 2019 (153)
93 EVA_DECODE ss3703403994 Jul 12, 2019 (153)
94 ACPOP ss3728221287 Jul 12, 2019 (153)
95 ILLUMINA ss3745054745 Jul 12, 2019 (153)
96 EVA ss3756451829 Jul 12, 2019 (153)
97 ILLUMINA ss3772551643 Jul 12, 2019 (153)
98 PACBIO ss3783799980 Jul 12, 2019 (153)
99 PACBIO ss3789398111 Jul 12, 2019 (153)
100 PACBIO ss3794270859 Jul 12, 2019 (153)
101 KHV_HUMAN_GENOMES ss3800835646 Jul 12, 2019 (153)
102 EVA ss3826860041 Apr 25, 2020 (154)
103 EVA ss3836836536 Apr 25, 2020 (154)
104 EVA ss3842250877 Apr 25, 2020 (154)
105 SGDP_PRJ ss3851756260 Apr 25, 2020 (154)
106 KRGDB ss3897153056 Apr 25, 2020 (154)
107 EVA ss3984478749 Apr 26, 2021 (155)
108 EVA ss4016983763 Apr 26, 2021 (155)
109 TOPMED ss4496803318 Apr 26, 2021 (155)
110 TOMMO_GENOMICS ss5150213896 Apr 26, 2021 (155)
111 1000Genomes NC_000002.11 - 21259612 Oct 11, 2018 (152)
112 The Avon Longitudinal Study of Parents and Children NC_000002.11 - 21259612 Oct 11, 2018 (152)
113 Chileans NC_000002.11 - 21259612 Apr 25, 2020 (154)
114 Genome-wide autozygosity in Daghestan NC_000002.10 - 21113117 Apr 25, 2020 (154)
115 Genetic variation in the Estonian population NC_000002.11 - 21259612 Oct 11, 2018 (152)
116 The Danish reference pan genome NC_000002.11 - 21259612 Apr 25, 2020 (154)
117 gnomAD - Genomes NC_000002.12 - 21036740 Apr 26, 2021 (155)
118 Genome of the Netherlands Release 5 NC_000002.11 - 21259612 Apr 25, 2020 (154)
119 HapMap NC_000002.12 - 21036740 Apr 25, 2020 (154)
120 KOREAN population from KRGDB NC_000002.11 - 21259612 Apr 25, 2020 (154)
121 Northern Sweden NC_000002.11 - 21259612 Jul 12, 2019 (153)
122 CNV burdens in cranial meningiomas NC_000002.11 - 21259612 Apr 26, 2021 (155)
123 PharmGKB Aggregated NC_000002.12 - 21036740 Apr 25, 2020 (154)
124 Qatari NC_000002.11 - 21259612 Apr 25, 2020 (154)
125 SGDP_PRJ NC_000002.11 - 21259612 Apr 25, 2020 (154)
126 Siberian NC_000002.11 - 21259612 Apr 25, 2020 (154)
127 8.3KJPN NC_000002.11 - 21259612 Apr 26, 2021 (155)
128 TopMed NC_000002.12 - 21036740 Apr 26, 2021 (155)
129 UK 10K study - Twins NC_000002.11 - 21259612 Oct 11, 2018 (152)
130 A Vietnamese Genetic Variation Database NC_000002.11 - 21259612 Jul 12, 2019 (153)
131 ALFA NC_000002.12 - 21036740 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)
rs3791982 Oct 08, 2002 (108)
rs17246926 Mar 11, 2006 (126)
rs58954561 May 25, 2008 (130)
rs61540633 Feb 26, 2009 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
4330450, ss3897153056 NC_000002.11:21259611:A:C NC_000002.12:21036739:A:C (self)
ss78268237, ss82843066 NC_000002.9:21171263:A:G NC_000002.12:21036739:A:G (self)
235259, ss66200668, ss76287693, ss109290533, ss109938290, ss163180360, ss163984406, ss173133120, ss276380986, ss292525080, ss481135956, ss1397285073, ss1585972997, ss1712437434, ss3643217772 NC_000002.10:21113116:A:G NC_000002.12:21036739:A:G (self)
7130949, 3958641, 212400, 2793082, 4950766, 1741582, 4330450, 1506152, 28074, 1846642, 3773240, 990456, 8183203, 3958641, 864857, ss219112791, ss231070860, ss238648601, ss481158105, ss482147406, ss485363046, ss537306784, ss555407853, ss648986498, ss778556751, ss783127198, ss784083781, ss832386052, ss834013563, ss976570978, ss1068922810, ss1296218897, ss1428503016, ss1578774051, ss1602976034, ss1645970067, ss1752336819, ss1796398849, ss1919804712, ss1968713775, ss2020429548, ss2148474102, ss2394063231, ss2624731651, ss2633582643, ss2703034104, ss2710893496, ss2770589614, ss2989102276, ss3344112480, ss3628009339, ss3631551425, ss3633191720, ss3633902997, ss3634754785, ss3635589468, ss3636440942, ss3637341287, ss3638246591, ss3640462089, ss3657054834, ss3728221287, ss3745054745, ss3756451829, ss3772551643, ss3783799980, ss3789398111, ss3794270859, ss3826860041, ss3836836536, ss3851756260, ss3897153056, ss3984478749, ss4016983763, ss5150213896 NC_000002.11:21259611:A:G NC_000002.12:21036739:A:G (self)
50655758, 1751272, 6112, 187547907, 300626197, 12055689188, ss2228150173, ss3023982336, ss3301262416, ss3646982742, ss3703403994, ss3800835646, ss3842250877, ss4496803318 NC_000002.12:21036739:A:G NC_000002.12:21036739:A:G (self)
ss19465233, ss20116495, ss21734734 NT_022184.13:75545:A:G NC_000002.12:21036739:A:G (self)
ss690678, ss4978354, ss8819683, ss23143772, ss44302689, ss65718958, ss68364465, ss69369378, ss69369379, ss74904936, ss81424911, ss84144017, ss84144027, ss97019528, ss102644313, ss106074455, ss120244566, ss132907384, ss156788121, ss160739207, ss173911971, ss244302881, ss410831608 NT_022184.15:81498:A:G NC_000002.12:21036739:A:G (self)
4330450, ss3897153056 NC_000002.11:21259611:A:T NC_000002.12:21036739:A:T (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 rs520354
PMID Title Author Year Journal
18252230 TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita. Savage SA et al. 2008 American journal of human genetics
18296645 Polymorphisms of genes in the lipid metabolism pathway and risk of biliary tract cancers and stones: a population-based case-control study in Shanghai, China. Andreotti G et al. 2008 Cancer epidemiology, biomarkers & prevention
19657367 Genetic polymorphisms of EPHX1, Gsk3beta, TNFSF8 and myeloma cell DKK-1 expression linked to bone disease in myeloma. Durie BG et al. 2009 Leukemia
19888660 Genetic determinants of serum lipid levels in Chinese subjects: a population-based study in Shanghai, China. Andreotti G et al. 2009 European journal of epidemiology
21708280 Candidate gene studies in gallbladder cancer: a systematic review and meta-analysis. Srivastava K et al. 2011 Mutation research
21734404 Genome-wide linkage analysis to identify genetic modifiers of ALK mutation penetrance in familial neuroblastoma. Devoto M et al. 2011 Human heredity
28652652 Gallbladder cancer epidemiology, pathogenesis and molecular genetics: Recent update. Sharma A et al. 2017 World journal of gastroenterology
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