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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.

rs1041456

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr21:43786474 (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
T>A / T>C
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.404976 (107193/264690, TOPMED)
C=0.462204 (94787/205076, GENOGRAPHIC)
C=0.445096 (61174/137440, ALFA) (+ 16 more)
T=0.21629 (6112/28258, 14KJPN)
T=0.20949 (3511/16760, 8.3KJPN)
T=0.2981 (1909/6404, 1000G_30x)
T=0.3013 (1509/5008, 1000G)
C=0.4333 (1670/3854, ALSPAC)
C=0.4177 (1549/3708, TWINSUK)
T=0.2700 (791/2930, KOREAN)
T=0.3234 (674/2084, HGDP_Stanford)
T=0.3296 (623/1890, HapMap)
C=0.459 (458/998, GoNL)
C=0.458 (275/600, NorthernSweden)
T=0.189 (92/486, SGDP_PRJ)
T=0.389 (84/216, Qatari)
T=0.294 (63/214, Vietnamese)
C=0.33 (28/84, Ancient Sardinia)
T=0.26 (13/50, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
None
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 137440 T=0.554904 A=0.000000, C=0.445096
European Sub 123510 T=0.579743 A=0.000000, C=0.420257
African Sub 2782 T=0.2444 A=0.0000, C=0.7556
African Others Sub 90 T=0.18 A=0.00, C=0.82
African American Sub 2692 T=0.2467 A=0.0000, C=0.7533
Asian Sub 264 T=0.261 A=0.000, C=0.739
East Asian Sub 182 T=0.247 A=0.000, C=0.753
Other Asian Sub 82 T=0.29 A=0.00, C=0.71
Latin American 1 Sub 286 T=0.510 A=0.000, C=0.490
Latin American 2 Sub 2022 T=0.3615 A=0.0000, C=0.6385
South Asian Sub 4890 T=0.2922 A=0.0000, C=0.7078
Other Sub 3686 T=0.4360 A=0.0000, C=0.5640


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 T=0.404976 C=0.595024
Genographic Project Global Study-wide 205076 T=0.537796 A=0.000000, C=0.462204
Allele Frequency Aggregator Total Global 137440 T=0.554904 A=0.000000, C=0.445096
Allele Frequency Aggregator European Sub 123510 T=0.579743 A=0.000000, C=0.420257
Allele Frequency Aggregator South Asian Sub 4890 T=0.2922 A=0.0000, C=0.7078
Allele Frequency Aggregator Other Sub 3686 T=0.4360 A=0.0000, C=0.5640
Allele Frequency Aggregator African Sub 2782 T=0.2444 A=0.0000, C=0.7556
Allele Frequency Aggregator Latin American 2 Sub 2022 T=0.3615 A=0.0000, C=0.6385
Allele Frequency Aggregator Latin American 1 Sub 286 T=0.510 A=0.000, C=0.490
Allele Frequency Aggregator Asian Sub 264 T=0.261 A=0.000, C=0.739
14KJPN JAPANESE Study-wide 28258 T=0.21629 C=0.78371
8.3KJPN JAPANESE Study-wide 16760 T=0.20949 C=0.79051
1000Genomes_30x Global Study-wide 6404 T=0.2981 C=0.7019
1000Genomes_30x African Sub 1786 T=0.1708 C=0.8292
1000Genomes_30x Europe Sub 1266 T=0.5869 C=0.4131
1000Genomes_30x South Asian Sub 1202 T=0.2537 C=0.7463
1000Genomes_30x East Asian Sub 1170 T=0.2171 C=0.7829
1000Genomes_30x American Sub 980 T=0.308 C=0.692
1000Genomes Global Study-wide 5008 T=0.3013 C=0.6987
1000Genomes African Sub 1322 T=0.1899 C=0.8101
1000Genomes East Asian Sub 1008 T=0.2083 C=0.7917
1000Genomes Europe Sub 1006 T=0.5875 C=0.4125
1000Genomes South Asian Sub 978 T=0.252 C=0.748
1000Genomes American Sub 694 T=0.304 C=0.696
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.5667 C=0.4333
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.5823 C=0.4177
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.2700 A=0.0000, C=0.7300
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 T=0.3234 C=0.6766
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 T=0.230 C=0.770
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 T=0.418 C=0.582
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 T=0.440 C=0.560
HGDP-CEPH-db Supplement 1 Europe Sub 320 T=0.575 C=0.425
HGDP-CEPH-db Supplement 1 Africa Sub 242 T=0.161 C=0.839
HGDP-CEPH-db Supplement 1 America Sub 216 T=0.065 C=0.935
HGDP-CEPH-db Supplement 1 Oceania Sub 72 T=0.03 C=0.97
HapMap Global Study-wide 1890 T=0.3296 C=0.6704
HapMap American Sub 768 T=0.355 C=0.645
HapMap African Sub 692 T=0.277 C=0.723
HapMap Asian Sub 254 T=0.224 C=0.776
HapMap Europe Sub 176 T=0.574 C=0.426
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.541 C=0.459
Northern Sweden ACPOP Study-wide 600 T=0.542 C=0.458
SGDP_PRJ Global Study-wide 486 T=0.189 C=0.811
Qatari Global Study-wide 216 T=0.389 C=0.611
A Vietnamese Genetic Variation Database Global Study-wide 214 T=0.294 C=0.706
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 84 T=0.67 C=0.33
Siberian Global Study-wide 50 T=0.26 C=0.74
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 21 NC_000021.9:g.43786474T>A
GRCh38.p14 chr 21 NC_000021.9:g.43786474T>C
GRCh37.p13 chr 21 NC_000021.8:g.45206355T>A
GRCh37.p13 chr 21 NC_000021.8:g.45206355T>C
RRP1 RefSeqGene NG_046959.1:g.1940T>A
RRP1 RefSeqGene NG_046959.1:g.1940T>C
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 T= A C
GRCh38.p14 chr 21 NC_000021.9:g.43786474= NC_000021.9:g.43786474T>A NC_000021.9:g.43786474T>C
GRCh37.p13 chr 21 NC_000021.8:g.45206355= NC_000021.8:g.45206355T>A NC_000021.8:g.45206355T>C
RRP1 RefSeqGene NG_046959.1:g.1940= NG_046959.1:g.1940T>A NG_046959.1:g.1940T>C
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#.

115 SubSNP, 21 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss1508078 Oct 05, 2000 (86)
2 WUGSC_SSAHASNP ss14432621 Dec 05, 2003 (119)
3 ABI ss44269670 Mar 14, 2006 (126)
4 ILLUMINA ss66569757 Nov 29, 2006 (127)
5 ILLUMINA ss66882249 Nov 29, 2006 (127)
6 ILLUMINA ss66975016 Nov 29, 2006 (127)
7 ILLUMINA ss70365248 May 16, 2007 (127)
8 ILLUMINA ss70477958 May 25, 2008 (130)
9 ILLUMINA ss71001148 May 16, 2007 (127)
10 ILLUMINA ss74953532 Dec 07, 2007 (129)
11 HGSV ss83018920 Dec 15, 2007 (130)
12 HGSV ss83323339 Dec 15, 2007 (130)
13 KRIBB_YJKIM ss83671828 Dec 15, 2007 (130)
14 HGSV ss83748742 Dec 15, 2007 (130)
15 HGSV ss85419489 Dec 15, 2007 (130)
16 BCMHGSC_JDW ss91855306 Mar 24, 2008 (129)
17 HUMANGENOME_JCVI ss96173454 Feb 06, 2009 (130)
18 BGI ss106216058 Feb 06, 2009 (130)
19 1000GENOMES ss112515180 Jan 25, 2009 (130)
20 ILLUMINA-UK ss117544612 Feb 14, 2009 (130)
21 ILLUMINA ss121303214 Dec 01, 2009 (131)
22 ENSEMBL ss138325114 Dec 01, 2009 (131)
23 ENSEMBL ss139373410 Dec 01, 2009 (131)
24 ILLUMINA ss152721037 Dec 01, 2009 (131)
25 GMI ss156960430 Dec 01, 2009 (131)
26 ILLUMINA ss159122621 Dec 01, 2009 (131)
27 COMPLETE_GENOMICS ss168137256 Jul 04, 2010 (132)
28 ILLUMINA ss169377295 Jul 04, 2010 (132)
29 COMPLETE_GENOMICS ss169652999 Jul 04, 2010 (132)
30 ILLUMINA ss170043663 Jul 04, 2010 (132)
31 BUSHMAN ss204033497 Jul 04, 2010 (132)
32 1000GENOMES ss212094453 Jul 14, 2010 (132)
33 GMI ss283560228 May 04, 2012 (137)
34 GMI ss287540166 Apr 25, 2013 (138)
35 PJP ss292720368 May 09, 2011 (134)
36 ILLUMINA ss479260339 May 04, 2012 (137)
37 ILLUMINA ss479263266 May 04, 2012 (137)
38 ILLUMINA ss484430879 May 04, 2012 (137)
39 ILLUMINA ss536602830 Sep 08, 2015 (146)
40 TISHKOFF ss566529525 Apr 25, 2013 (138)
41 SSMP ss662441133 Apr 25, 2013 (138)
42 ILLUMINA ss778686967 Sep 08, 2015 (146)
43 ILLUMINA ss782661892 Sep 08, 2015 (146)
44 ILLUMINA ss783630857 Sep 08, 2015 (146)
45 ILLUMINA ss825334979 Apr 01, 2015 (144)
46 ILLUMINA ss831912412 Sep 08, 2015 (146)
47 ILLUMINA ss832635342 Jul 13, 2019 (153)
48 ILLUMINA ss834145637 Sep 08, 2015 (146)
49 EVA-GONL ss995170039 Aug 21, 2014 (142)
50 JMKIDD_LAB ss1082538047 Aug 21, 2014 (142)
51 1000GENOMES ss1366477645 Aug 21, 2014 (142)
52 DDI ss1429200251 Apr 01, 2015 (144)
53 EVA_UK10K_ALSPAC ss1639663847 Apr 01, 2015 (144)
54 EVA_UK10K_TWINSUK ss1682657880 Apr 01, 2015 (144)
55 EVA_SVP ss1713727744 Apr 01, 2015 (144)
56 ILLUMINA ss1752410861 Sep 08, 2015 (146)
57 HAMMER_LAB ss1809711361 Sep 08, 2015 (146)
58 WEILL_CORNELL_DGM ss1938721267 Feb 12, 2016 (147)
59 JJLAB ss2030135205 Sep 14, 2016 (149)
60 USC_VALOUEV ss2158741083 Dec 20, 2016 (150)
61 HUMAN_LONGEVITY ss2246140513 Dec 20, 2016 (150)
62 SYSTEMSBIOZJU ss2629566584 Nov 08, 2017 (151)
63 ILLUMINA ss2633856397 Nov 08, 2017 (151)
64 GRF ss2704471683 Nov 08, 2017 (151)
65 GNOMAD ss2972315276 Nov 08, 2017 (151)
66 SWEGEN ss3018971004 Nov 08, 2017 (151)
67 ILLUMINA ss3022164760 Nov 08, 2017 (151)
68 BIOINF_KMB_FNS_UNIBA ss3028906870 Nov 08, 2017 (151)
69 CSHL ss3352743464 Nov 08, 2017 (151)
70 ILLUMINA ss3628494033 Oct 12, 2018 (152)
71 ILLUMINA ss3631809476 Oct 12, 2018 (152)
72 ILLUMINA ss3633267289 Oct 12, 2018 (152)
73 ILLUMINA ss3633982407 Oct 12, 2018 (152)
74 ILLUMINA ss3634857762 Oct 12, 2018 (152)
75 ILLUMINA ss3635667094 Oct 12, 2018 (152)
76 ILLUMINA ss3637419270 Oct 12, 2018 (152)
77 ILLUMINA ss3638371296 Oct 12, 2018 (152)
78 ILLUMINA ss3639189720 Oct 12, 2018 (152)
79 ILLUMINA ss3639610762 Oct 12, 2018 (152)
80 ILLUMINA ss3640565062 Oct 12, 2018 (152)
81 ILLUMINA ss3643331977 Oct 12, 2018 (152)
82 URBANLAB ss3651126869 Oct 12, 2018 (152)
83 ILLUMINA ss3652625711 Oct 12, 2018 (152)
84 EVA_DECODE ss3707826935 Jul 13, 2019 (153)
85 ILLUMINA ss3725952394 Jul 13, 2019 (153)
86 ACPOP ss3743776158 Jul 13, 2019 (153)
87 ILLUMINA ss3745157608 Jul 13, 2019 (153)
88 ILLUMINA ss3772653634 Jul 13, 2019 (153)
89 PACBIO ss3788777915 Jul 13, 2019 (153)
90 PACBIO ss3793650503 Jul 13, 2019 (153)
91 PACBIO ss3798536819 Jul 13, 2019 (153)
92 KHV_HUMAN_GENOMES ss3822333923 Jul 13, 2019 (153)
93 EVA ss3835901445 Apr 27, 2020 (154)
94 EVA ss3841578510 Apr 27, 2020 (154)
95 EVA ss3847091596 Apr 27, 2020 (154)
96 HGDP ss3847683160 Apr 27, 2020 (154)
97 SGDP_PRJ ss3890109398 Apr 27, 2020 (154)
98 KRGDB ss3940457110 Apr 27, 2020 (154)
99 EVA ss3985907515 Apr 27, 2021 (155)
100 TOPMED ss5103114503 Apr 27, 2021 (155)
101 TOMMO_GENOMICS ss5231745004 Apr 27, 2021 (155)
102 1000G_HIGH_COVERAGE ss5310378107 Oct 13, 2022 (156)
103 GENOGRAPHIC ss5314583907 Oct 13, 2022 (156)
104 EVA ss5316042930 Oct 13, 2022 (156)
105 HUGCELL_USP ss5502409750 Oct 13, 2022 (156)
106 EVA ss5512336756 Oct 13, 2022 (156)
107 1000G_HIGH_COVERAGE ss5617593212 Oct 13, 2022 (156)
108 SANFORD_IMAGENETICS ss5664111509 Oct 13, 2022 (156)
109 TOMMO_GENOMICS ss5792310623 Oct 13, 2022 (156)
110 YY_MCH ss5818484665 Oct 13, 2022 (156)
111 EVA ss5839109913 Oct 13, 2022 (156)
112 EVA ss5853326050 Oct 13, 2022 (156)
113 EVA ss5892540872 Oct 13, 2022 (156)
114 EVA ss5959011210 Oct 13, 2022 (156)
115 EVA ss5981118816 Oct 13, 2022 (156)
116 1000Genomes NC_000021.8 - 45206355 Oct 12, 2018 (152)
117 1000Genomes_30x NC_000021.9 - 43786474 Oct 13, 2022 (156)
118 The Avon Longitudinal Study of Parents and Children NC_000021.8 - 45206355 Oct 12, 2018 (152)
119 Genographic Project NC_000021.9 - 43786474 Oct 13, 2022 (156)
120 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 564431488 (NC_000021.9:43786473:T:A 7/139912)
Row 564431489 (NC_000021.9:43786473:T:C 79653/139860)

- Apr 27, 2021 (155)
121 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 564431488 (NC_000021.9:43786473:T:A 7/139912)
Row 564431489 (NC_000021.9:43786473:T:C 79653/139860)

- Apr 27, 2021 (155)
122 Genome of the Netherlands Release 5 NC_000021.8 - 45206355 Apr 27, 2020 (154)
123 HGDP-CEPH-db Supplement 1 NC_000021.7 - 44030783 Apr 27, 2020 (154)
124 HapMap NC_000021.9 - 43786474 Apr 27, 2020 (154)
125 KOREAN population from KRGDB NC_000021.8 - 45206355 Apr 27, 2020 (154)
126 Northern Sweden NC_000021.8 - 45206355 Jul 13, 2019 (153)
127 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000021.8 - 45206355 Apr 27, 2021 (155)
128 Qatari NC_000021.8 - 45206355 Apr 27, 2020 (154)
129 SGDP_PRJ NC_000021.8 - 45206355 Apr 27, 2020 (154)
130 Siberian NC_000021.8 - 45206355 Apr 27, 2020 (154)
131 8.3KJPN NC_000021.8 - 45206355 Apr 27, 2021 (155)
132 14KJPN NC_000021.9 - 43786474 Oct 13, 2022 (156)
133 TopMed NC_000021.9 - 43786474 Apr 27, 2021 (155)
134 UK 10K study - Twins NC_000021.8 - 45206355 Oct 12, 2018 (152)
135 A Vietnamese Genetic Variation Database NC_000021.8 - 45206355 Jul 13, 2019 (153)
136 ALFA NC_000021.9 - 43786474 Apr 27, 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)
rs60376588 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
47634504, ss2972315276, ss3940457110 NC_000021.8:45206354:T:A NC_000021.9:43786473:T:A (self)
3822, 3677964879, ss5314583907 NC_000021.9:43786473:T:A NC_000021.9:43786473:T:A (self)
361052, ss83018920, ss83323339, ss83748742, ss85419489, ss91855306, ss112515180, ss117544612, ss168137256, ss169652999, ss204033497, ss212094453, ss283560228, ss287540166, ss292720368, ss479260339, ss825334979, ss1713727744, ss3639189720, ss3639610762, ss3643331977, ss3847683160 NC_000021.7:44030782:T:C NC_000021.9:43786473:T:C (self)
80004741, 44282109, 19726106, 47634504, 17061023, 1133442, 20763189, 42126378, 11257437, 89714311, 44282109, 9770391, ss479263266, ss484430879, ss536602830, ss566529525, ss662441133, ss778686967, ss782661892, ss783630857, ss831912412, ss832635342, ss834145637, ss995170039, ss1082538047, ss1366477645, ss1429200251, ss1639663847, ss1682657880, ss1752410861, ss1809711361, ss1938721267, ss2030135205, ss2158741083, ss2629566584, ss2633856397, ss2704471683, ss2972315276, ss3018971004, ss3022164760, ss3352743464, ss3628494033, ss3631809476, ss3633267289, ss3633982407, ss3634857762, ss3635667094, ss3637419270, ss3638371296, ss3640565062, ss3652625711, ss3743776158, ss3745157608, ss3772653634, ss3788777915, ss3793650503, ss3798536819, ss3835901445, ss3841578510, ss3890109398, ss3940457110, ss3985907515, ss5231745004, ss5316042930, ss5512336756, ss5664111509, ss5839109913, ss5959011210, ss5981118816 NC_000021.8:45206354:T:C NC_000021.9:43786473:T:C (self)
105119147, 3822, 2219325, 126147727, 378223449, 3677964879, ss2246140513, ss3028906870, ss3651126869, ss3707826935, ss3725952394, ss3822333923, ss3847091596, ss5103114503, ss5310378107, ss5314583907, ss5502409750, ss5617593212, ss5792310623, ss5818484665, ss5853326050, ss5892540872 NC_000021.9:43786473:T:C NC_000021.9:43786473:T:C (self)
ss14432621 NT_011515.10:519092:T:C NC_000021.9:43786473:T:C (self)
ss1508078, ss44269670, ss66569757, ss66882249, ss66975016, ss70365248, ss70477958, ss71001148, ss74953532, ss83671828, ss96173454, ss106216058, ss121303214, ss138325114, ss139373410, ss152721037, ss156960430, ss159122621, ss169377295, ss170043663 NT_011515.12:2200795:T:C NC_000021.9:43786473:T:C (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 rs1041456
PMID Title Author Year Journal
21197116 Genome-wide association analyses of genetic, phenotypic, and environmental risks in the age-related eye disease study. Ryu E et al. 2010 Molecular vision
27532455 Common Genetic Polymorphisms Influence Blood Biomarker Measurements in COPD. Sun W et al. 2016 PLoS genetics
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