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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.

rs2814707

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr9:27536399 (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>G / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.225768 (73621/326092, ALFA)
T=0.212195 (56166/264690, TOPMED)
T=0.18455 (14503/78584, PAGE_STUDY) (+ 20 more)
T=0.08681 (2453/28258, 14KJPN)
T=0.08777 (1471/16760, 8.3KJPN)
T=0.1691 (1083/6404, 1000G_30x)
T=0.1725 (864/5008, 1000G)
T=0.1871 (838/4480, Estonian)
T=0.2356 (908/3854, ALSPAC)
T=0.2500 (927/3708, TWINSUK)
T=0.0416 (122/2930, KOREAN)
T=0.1766 (368/2084, HGDP_Stanford)
T=0.1628 (308/1892, HapMap)
T=0.0355 (65/1832, Korea1K)
T=0.233 (233/998, GoNL)
T=0.046 (36/788, PRJEB37584)
T=0.182 (109/600, NorthernSweden)
T=0.398 (86/216, Qatari)
T=0.069 (15/216, Vietnamese)
C=0.447 (67/150, SGDP_PRJ)
T=0.43 (40/94, Ancient Sardinia)
T=0.12 (5/40, GENOME_DK)
C=0.44 (7/16, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
None
Publications
17 citations
Genomic View
See rs on genome
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
Allele Frequency Aggregator Total Global 326092 C=0.774232 G=0.000000, T=0.225768
Allele Frequency Aggregator European Sub 280614 C=0.763326 G=0.000000, T=0.236674
Allele Frequency Aggregator Other Sub 15668 C=0.80144 G=0.00000, T=0.19856
Allele Frequency Aggregator African Sub 9618 C=0.8239 G=0.0000, T=0.1761
Allele Frequency Aggregator Latin American 2 Sub 7046 C=0.8710 G=0.0000, T=0.1290
Allele Frequency Aggregator Asian Sub 6874 C=0.9517 G=0.0000, T=0.0483
Allele Frequency Aggregator South Asian Sub 5188 C=0.8175 G=0.0000, T=0.1825
Allele Frequency Aggregator Latin American 1 Sub 1084 C=0.8026 G=0.0000, T=0.1974
TopMed Global Study-wide 264690 C=0.787805 T=0.212195
The PAGE Study Global Study-wide 78584 C=0.81545 T=0.18455
The PAGE Study AfricanAmerican Sub 32470 C=0.78509 T=0.21491
The PAGE Study Mexican Sub 10798 C=0.87062 T=0.12938
The PAGE Study Asian Sub 8310 C=0.9107 T=0.0893
The PAGE Study PuertoRican Sub 7906 C=0.8032 T=0.1968
The PAGE Study NativeHawaiian Sub 4524 C=0.7834 T=0.2166
The PAGE Study Cuban Sub 4218 C=0.7703 T=0.2297
The PAGE Study Dominican Sub 3822 C=0.7781 T=0.2219
The PAGE Study CentralAmerican Sub 2446 C=0.8536 T=0.1464
The PAGE Study SouthAmerican Sub 1980 C=0.8566 T=0.1434
The PAGE Study NativeAmerican Sub 1254 C=0.7895 T=0.2105
The PAGE Study SouthAsian Sub 856 C=0.852 T=0.148
14KJPN JAPANESE Study-wide 28258 C=0.91319 T=0.08681
8.3KJPN JAPANESE Study-wide 16760 C=0.91223 T=0.08777
1000Genomes_30x Global Study-wide 6404 C=0.8309 T=0.1691
1000Genomes_30x African Sub 1786 C=0.7906 T=0.2094
1000Genomes_30x Europe Sub 1266 C=0.7701 T=0.2299
1000Genomes_30x South Asian Sub 1202 C=0.8453 T=0.1547
1000Genomes_30x East Asian Sub 1170 C=0.9282 T=0.0718
1000Genomes_30x American Sub 980 C=0.849 T=0.151
1000Genomes Global Study-wide 5008 C=0.8275 T=0.1725
1000Genomes African Sub 1322 C=0.7769 T=0.2231
1000Genomes East Asian Sub 1008 C=0.9306 T=0.0694
1000Genomes Europe Sub 1006 C=0.7644 T=0.2356
1000Genomes South Asian Sub 978 C=0.839 T=0.161
1000Genomes American Sub 694 C=0.849 T=0.151
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.8129 T=0.1871
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.7644 T=0.2356
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.7500 T=0.2500
KOREAN population from KRGDB KOREAN Study-wide 2930 C=0.9584 T=0.0416
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 C=0.8234 T=0.1766
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 C=0.906 T=0.094
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 C=0.809 T=0.191
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 C=0.720 T=0.280
HGDP-CEPH-db Supplement 1 Europe Sub 320 C=0.750 T=0.250
HGDP-CEPH-db Supplement 1 Africa Sub 242 C=0.744 T=0.256
HGDP-CEPH-db Supplement 1 America Sub 216 C=0.986 T=0.014
HGDP-CEPH-db Supplement 1 Oceania Sub 72 C=0.97 T=0.03
HapMap Global Study-wide 1892 C=0.8372 T=0.1628
HapMap American Sub 770 C=0.858 T=0.142
HapMap African Sub 692 C=0.803 T=0.197
HapMap Asian Sub 254 C=0.945 T=0.055
HapMap Europe Sub 176 C=0.722 T=0.278
Korean Genome Project KOREAN Study-wide 1832 C=0.9645 T=0.0355
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.767 T=0.233
CNV burdens in cranial meningiomas Global Study-wide 788 C=0.954 T=0.046
CNV burdens in cranial meningiomas CRM Sub 788 C=0.954 T=0.046
Northern Sweden ACPOP Study-wide 600 C=0.818 T=0.182
Qatari Global Study-wide 216 C=0.602 T=0.398
A Vietnamese Genetic Variation Database Global Study-wide 216 C=0.931 T=0.069
SGDP_PRJ Global Study-wide 150 C=0.447 T=0.553
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 94 C=0.57 T=0.43
The Danish reference pan genome Danish Study-wide 40 C=0.88 T=0.12
Siberian Global Study-wide 16 C=0.44 T=0.56
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 9 NC_000009.12:g.27536399C>G
GRCh38.p14 chr 9 NC_000009.12:g.27536399C>T
GRCh37.p13 chr 9 NC_000009.11:g.27536397C>G
GRCh37.p13 chr 9 NC_000009.11:g.27536397C>T
C9orf72 RefSeqGene (LRG_658) NG_031977.2:g.42468G>C
C9orf72 RefSeqGene (LRG_658) NG_031977.2:g.42468G>A
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 C= G T
GRCh38.p14 chr 9 NC_000009.12:g.27536399= NC_000009.12:g.27536399C>G NC_000009.12:g.27536399C>T
GRCh37.p13 chr 9 NC_000009.11:g.27536397= NC_000009.11:g.27536397C>G NC_000009.11:g.27536397C>T
C9orf72 RefSeqGene (LRG_658) NG_031977.2:g.42468= NG_031977.2:g.42468G>C NG_031977.2:g.42468G>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#.

136 SubSNP, 25 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_JCM ss3986902 Sep 28, 2001 (100)
2 SC_SNP ss12925684 Dec 05, 2003 (119)
3 SC_SNP ss15698838 Feb 27, 2004 (120)
4 ILLUMINA ss66614796 Dec 01, 2006 (127)
5 ILLUMINA ss67274737 Dec 01, 2006 (127)
6 ILLUMINA ss67675997 Dec 01, 2006 (127)
7 ILLUMINA ss70753232 May 26, 2008 (130)
8 ILLUMINA ss71326044 May 18, 2007 (127)
9 ILLUMINA ss75442971 Dec 06, 2007 (129)
10 ILLUMINA ss79147898 Dec 15, 2007 (130)
11 KRIBB_YJKIM ss84089445 Dec 15, 2007 (130)
12 BGI ss104608684 Dec 01, 2009 (131)
13 ILLUMINA-UK ss115716353 Feb 14, 2009 (130)
14 ILLUMINA ss122110297 Dec 01, 2009 (131)
15 ILLUMINA ss154235891 Dec 01, 2009 (131)
16 ILLUMINA ss159412326 Dec 01, 2009 (131)
17 ILLUMINA ss160581472 Dec 01, 2009 (131)
18 ILLUMINA ss171392653 Jul 04, 2010 (132)
19 ILLUMINA ss173471886 Jul 04, 2010 (132)
20 1000GENOMES ss210748039 Jul 14, 2010 (132)
21 1000GENOMES ss224199344 Jul 14, 2010 (132)
22 1000GENOMES ss234781133 Jul 15, 2010 (132)
23 1000GENOMES ss241563036 Jul 15, 2010 (132)
24 GMI ss280166813 May 04, 2012 (137)
25 GMI ss285995265 Apr 25, 2013 (138)
26 ILLUMINA ss480670814 May 04, 2012 (137)
27 ILLUMINA ss480686312 May 04, 2012 (137)
28 ILLUMINA ss481540029 Sep 08, 2015 (146)
29 ILLUMINA ss485130315 May 04, 2012 (137)
30 EXOME_CHIP ss491421497 May 04, 2012 (137)
31 ILLUMINA ss537129336 Sep 08, 2015 (146)
32 TISHKOFF ss561331535 Apr 25, 2013 (138)
33 SSMP ss655767569 Apr 25, 2013 (138)
34 ILLUMINA ss778507112 Sep 08, 2015 (146)
35 ILLUMINA ss780683886 Sep 08, 2015 (146)
36 ILLUMINA ss783011468 Aug 21, 2014 (142)
37 ILLUMINA ss783357305 Sep 08, 2015 (146)
38 ILLUMINA ss783971706 Sep 08, 2015 (146)
39 ILLUMINA ss825478416 Apr 01, 2015 (144)
40 ILLUMINA ss832268830 Apr 01, 2015 (144)
41 ILLUMINA ss832923997 Aug 21, 2014 (142)
42 ILLUMINA ss833514827 Aug 21, 2014 (142)
43 ILLUMINA ss833963315 Sep 08, 2015 (146)
44 EVA-GONL ss986462654 Aug 21, 2014 (142)
45 JMKIDD_LAB ss1076231359 Aug 21, 2014 (142)
46 1000GENOMES ss1333485444 Aug 21, 2014 (142)
47 DDI ss1431795262 Apr 01, 2015 (144)
48 EVA_GENOME_DK ss1583047261 Apr 01, 2015 (144)
49 EVA_DECODE ss1596097772 Apr 01, 2015 (144)
50 EVA_UK10K_ALSPAC ss1622554339 Apr 01, 2015 (144)
51 EVA_UK10K_TWINSUK ss1665548372 Apr 01, 2015 (144)
52 EVA_SVP ss1713102273 Apr 01, 2015 (144)
53 ILLUMINA ss1752773725 Sep 08, 2015 (146)
54 ILLUMINA ss1752773726 Sep 08, 2015 (146)
55 ILLUMINA ss1917835422 Feb 12, 2016 (147)
56 WEILL_CORNELL_DGM ss1929746508 Feb 12, 2016 (147)
57 ILLUMINA ss1946256135 Feb 12, 2016 (147)
58 ILLUMINA ss1959176048 Feb 12, 2016 (147)
59 AMU ss1966657435 Feb 12, 2016 (147)
60 JJLAB ss2025584738 Sep 14, 2016 (149)
61 ILLUMINA ss2094835299 Dec 20, 2016 (150)
62 ILLUMINA ss2095220741 Dec 20, 2016 (150)
63 USC_VALOUEV ss2153810338 Dec 20, 2016 (150)
64 HUMAN_LONGEVITY ss2310599815 Dec 20, 2016 (150)
65 ILLUMINA ss2634855640 Nov 08, 2017 (151)
66 ILLUMINA ss2634855641 Nov 08, 2017 (151)
67 ILLUMINA ss2634855642 Nov 08, 2017 (151)
68 ILLUMINA ss2635194563 Nov 08, 2017 (151)
69 GRF ss2709616683 Nov 08, 2017 (151)
70 GNOMAD ss2877057365 Nov 08, 2017 (151)
71 AFFY ss2985459254 Nov 08, 2017 (151)
72 AFFY ss2986105324 Nov 08, 2017 (151)
73 SWEGEN ss3004608969 Nov 08, 2017 (151)
74 ILLUMINA ss3022920561 Nov 08, 2017 (151)
75 BIOINF_KMB_FNS_UNIBA ss3026581030 Nov 08, 2017 (151)
76 CSHL ss3348589769 Nov 08, 2017 (151)
77 ILLUMINA ss3630245490 Oct 12, 2018 (152)
78 ILLUMINA ss3630245491 Oct 12, 2018 (152)
79 ILLUMINA ss3632748606 Oct 12, 2018 (152)
80 ILLUMINA ss3633530752 Oct 12, 2018 (152)
81 ILLUMINA ss3634258873 Oct 12, 2018 (152)
82 ILLUMINA ss3635209464 Oct 12, 2018 (152)
83 ILLUMINA ss3635209465 Oct 12, 2018 (152)
84 ILLUMINA ss3635936968 Oct 12, 2018 (152)
85 ILLUMINA ss3636955932 Oct 12, 2018 (152)
86 ILLUMINA ss3637690258 Oct 12, 2018 (152)
87 ILLUMINA ss3638808227 Oct 12, 2018 (152)
88 ILLUMINA ss3639408992 Oct 12, 2018 (152)
89 ILLUMINA ss3639736848 Oct 12, 2018 (152)
90 ILLUMINA ss3640916754 Oct 12, 2018 (152)
91 ILLUMINA ss3640916755 Oct 12, 2018 (152)
92 ILLUMINA ss3643735385 Oct 12, 2018 (152)
93 ILLUMINA ss3644989456 Oct 12, 2018 (152)
94 ILLUMINA ss3653471930 Oct 12, 2018 (152)
95 ILLUMINA ss3653471931 Oct 12, 2018 (152)
96 ILLUMINA ss3654223391 Oct 12, 2018 (152)
97 EGCUT_WGS ss3672360376 Jul 13, 2019 (153)
98 EVA_DECODE ss3723747890 Jul 13, 2019 (153)
99 ILLUMINA ss3726604728 Jul 13, 2019 (153)
100 ACPOP ss3736431810 Jul 13, 2019 (153)
101 ILLUMINA ss3744587566 Jul 13, 2019 (153)
102 ILLUMINA ss3745509390 Jul 13, 2019 (153)
103 ILLUMINA ss3745509391 Jul 13, 2019 (153)
104 EVA ss3769091291 Jul 13, 2019 (153)
105 PAGE_CC ss3771494859 Jul 13, 2019 (153)
106 ILLUMINA ss3773001438 Jul 13, 2019 (153)
107 ILLUMINA ss3773001439 Jul 13, 2019 (153)
108 KHV_HUMAN_GENOMES ss3812249577 Jul 13, 2019 (153)
109 EVA ss3831607953 Apr 26, 2020 (154)
110 EVA ss3839321389 Apr 26, 2020 (154)
111 EVA ss3844784215 Apr 26, 2020 (154)
112 HGDP ss3847945516 Apr 26, 2020 (154)
113 SGDP_PRJ ss3871825709 Apr 26, 2020 (154)
114 KRGDB ss3919488531 Apr 26, 2020 (154)
115 KOGIC ss3965560224 Apr 26, 2020 (154)
116 EVA ss3984618383 Apr 26, 2021 (155)
117 EVA ss3985414635 Apr 26, 2021 (155)
118 TOPMED ss4817752767 Apr 26, 2021 (155)
119 TOMMO_GENOMICS ss5192719239 Apr 26, 2021 (155)
120 1000G_HIGH_COVERAGE ss5280293140 Oct 16, 2022 (156)
121 EVA ss5315396197 Oct 16, 2022 (156)
122 EVA ss5386952824 Oct 16, 2022 (156)
123 HUGCELL_USP ss5476520137 Oct 16, 2022 (156)
124 EVA ss5509677391 Oct 16, 2022 (156)
125 1000G_HIGH_COVERAGE ss5572334379 Oct 16, 2022 (156)
126 SANFORD_IMAGENETICS ss5624717324 Oct 16, 2022 (156)
127 SANFORD_IMAGENETICS ss5647195242 Oct 16, 2022 (156)
128 TOMMO_GENOMICS ss5735946793 Oct 16, 2022 (156)
129 EVA ss5799781884 Oct 16, 2022 (156)
130 YY_MCH ss5810465679 Oct 16, 2022 (156)
131 EVA ss5829041009 Oct 16, 2022 (156)
132 EVA ss5847354654 Oct 16, 2022 (156)
133 EVA ss5856729837 Oct 16, 2022 (156)
134 EVA ss5916100843 Oct 16, 2022 (156)
135 EVA ss5976476606 Oct 16, 2022 (156)
136 EVA ss5979890436 Oct 16, 2022 (156)
137 1000Genomes NC_000009.11 - 27536397 Oct 12, 2018 (152)
138 1000Genomes_30x NC_000009.12 - 27536399 Oct 16, 2022 (156)
139 The Avon Longitudinal Study of Parents and Children NC_000009.11 - 27536397 Oct 12, 2018 (152)
140 Genetic variation in the Estonian population NC_000009.11 - 27536397 Oct 12, 2018 (152)
141 The Danish reference pan genome NC_000009.11 - 27536397 Apr 26, 2020 (154)
142 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 322300421 (NC_000009.12:27536398:C:G 3/140116)
Row 322300422 (NC_000009.12:27536398:C:T 30217/140064)

- Apr 26, 2021 (155)
143 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 322300421 (NC_000009.12:27536398:C:G 3/140116)
Row 322300422 (NC_000009.12:27536398:C:T 30217/140064)

- Apr 26, 2021 (155)
144 Genome of the Netherlands Release 5 NC_000009.11 - 27536397 Apr 26, 2020 (154)
145 HGDP-CEPH-db Supplement 1 NC_000009.10 - 27526397 Apr 26, 2020 (154)
146 HapMap NC_000009.12 - 27536399 Apr 26, 2020 (154)
147 KOREAN population from KRGDB NC_000009.11 - 27536397 Apr 26, 2020 (154)
148 Korean Genome Project NC_000009.12 - 27536399 Apr 26, 2020 (154)
149 Northern Sweden NC_000009.11 - 27536397 Jul 13, 2019 (153)
150 The PAGE Study NC_000009.12 - 27536399 Jul 13, 2019 (153)
151 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000009.11 - 27536397 Apr 26, 2021 (155)
152 CNV burdens in cranial meningiomas NC_000009.11 - 27536397 Apr 26, 2021 (155)
153 Qatari NC_000009.11 - 27536397 Apr 26, 2020 (154)
154 SGDP_PRJ NC_000009.11 - 27536397 Apr 26, 2020 (154)
155 Siberian NC_000009.11 - 27536397 Apr 26, 2020 (154)
156 8.3KJPN NC_000009.11 - 27536397 Apr 26, 2021 (155)
157 14KJPN NC_000009.12 - 27536399 Oct 16, 2022 (156)
158 TopMed NC_000009.12 - 27536399 Apr 26, 2021 (155)
159 UK 10K study - Twins NC_000009.11 - 27536397 Oct 12, 2018 (152)
160 A Vietnamese Genetic Variation Database NC_000009.11 - 27536397 Jul 13, 2019 (153)
161 ALFA NC_000009.12 - 27536399 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)
rs60823002 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
13940363376 NC_000009.12:27536398:C:G NC_000009.12:27536398:C:G (self)
ss3639408992, ss3639736848 NC_000009.9:27526396:C:T NC_000009.12:27536398:C:T (self)
623408, ss115716353, ss210748039, ss280166813, ss285995265, ss480670814, ss825478416, ss1596097772, ss1713102273, ss2635194563, ss3643735385, ss3847945516 NC_000009.10:27526396:C:T NC_000009.12:27536398:C:T (self)
45730574, 25436150, 18098624, 9212198, 11347058, 26665925, 9716675, 640562, 167828, 11788438, 23842689, 6326692, 50688546, 25436150, 5650778, ss224199344, ss234781133, ss241563036, ss480686312, ss481540029, ss485130315, ss491421497, ss537129336, ss561331535, ss655767569, ss778507112, ss780683886, ss783011468, ss783357305, ss783971706, ss832268830, ss832923997, ss833514827, ss833963315, ss986462654, ss1076231359, ss1333485444, ss1431795262, ss1583047261, ss1622554339, ss1665548372, ss1752773725, ss1752773726, ss1917835422, ss1929746508, ss1946256135, ss1959176048, ss1966657435, ss2025584738, ss2094835299, ss2095220741, ss2153810338, ss2634855640, ss2634855641, ss2634855642, ss2709616683, ss2877057365, ss2985459254, ss2986105324, ss3004608969, ss3022920561, ss3348589769, ss3630245490, ss3630245491, ss3632748606, ss3633530752, ss3634258873, ss3635209464, ss3635209465, ss3635936968, ss3636955932, ss3637690258, ss3638808227, ss3640916754, ss3640916755, ss3644989456, ss3653471930, ss3653471931, ss3654223391, ss3672360376, ss3736431810, ss3744587566, ss3745509390, ss3745509391, ss3769091291, ss3773001438, ss3773001439, ss3831607953, ss3839321389, ss3871825709, ss3919488531, ss3984618383, ss3985414635, ss5192719239, ss5315396197, ss5386952824, ss5509677391, ss5624717324, ss5647195242, ss5799781884, ss5829041009, ss5847354654, ss5976476606, ss5979890436 NC_000009.11:27536396:C:T NC_000009.12:27536398:C:T (self)
59860314, 3811070, 21938225, 716328, 69783897, 655130328, 13940363376, ss2310599815, ss3026581030, ss3723747890, ss3726604728, ss3771494859, ss3812249577, ss3844784215, ss3965560224, ss4817752767, ss5280293140, ss5476520137, ss5572334379, ss5735946793, ss5810465679, ss5856729837, ss5916100843 NC_000009.12:27536398:C:T NC_000009.12:27536398:C:T (self)
ss12925684 NT_008413.15:27526397:C:T NC_000009.12:27536398:C:T (self)
ss15698838 NT_008413.16:27526396:C:T NC_000009.12:27536398:C:T (self)
ss3986902, ss66614796, ss67274737, ss67675997, ss70753232, ss71326044, ss75442971, ss79147898, ss84089445, ss104608684, ss122110297, ss154235891, ss159412326, ss160581472, ss171392653, ss173471886 NT_008413.18:27526396:C:T NC_000009.12:27536398: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.

17 citations for rs2814707
PMID Title Author Year Journal
18615156 Genome-wide association scan identifies candidate polymorphisms associated with differential response to anti-TNF treatment in rheumatoid arthritis. Liu C et al. 2008 Molecular medicine (Cambridge, Mass.)
19734901 Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis. van Es MA et al. 2009 Nature genetics
20423481 Lack of replication of genetic predictors for the rheumatoid arthritis response to anti-TNF treatments: a prospective case-only study. Suarez-Gestal M et al. 2010 Arthritis research & therapy
20706608 The role of genetic variation near interferon-kappa in systemic lupus erythematosus. Harley IT et al. 2010 Journal of biomedicine & biotechnology
20801717 Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study. Shatunov A et al. 2010 The Lancet. Neurology
20801718 Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study. Laaksovirta H et al. 2010 The Lancet. Neurology
21222600 FTD and ALS: a tale of two diseases. Ferrari R et al. 2011 Current Alzheimer research
21295378 Replication analysis of SNPs on 9p21.2 and 19p13.3 with amyotrophic lateral sclerosis in East Asians. Iida A et al. 2011 Neurobiology of aging
22125427 An overview of DNA repair in amyotrophic lateral sclerosis. Coppedè F et al. 2011 TheScientificWorldJournal
22459598 Screening for C9ORF72 repeat expansion in FTLD. Ferrari R et al. 2012 Neurobiology of aging
22509407 Mapping of gene expression reveals CYP27A1 as a susceptibility gene for sporadic ALS. Diekstra FP et al. 2012 PloS one
23587638 Residual association at C9orf72 suggests an alternative amyotrophic lateral sclerosis-causing hexanucleotide repeat. Jones AR et al. 2013 Neurobiology of aging
24269022 Identification of C9orf72 repeat expansions in patients with amyotrophic lateral sclerosis and frontotemporal dementia in mainland China. Jiao B et al. 2014 Neurobiology of aging
24373676 Genetic and neuroanatomic associations in sporadic frontotemporal lobar degeneration. McMillan CT et al. 2014 Neurobiology of aging
24493373 Association analysis of four candidate genetic variants with sporadic amyotrophic lateral sclerosis in a Chinese population. Chen X et al. 2014 Neurological sciences
25933217 Correction: A Systems Genetics Approach Identifies CXCL14, ITGAX, and LPCAT2 as Novel Aggressive Prostate Cancer Susceptibility Genes. 2015 PLoS genetics
32123936 Genome-wide association study of genetic variations associated with treatment failure after intravesical bacillus Calmette-Guérin therapy for non-muscle invasive bladder cancer. Shiota M et al. 2020 Cancer immunology, immunotherapy
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The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

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Genomic regions, transcripts, and products
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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.
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