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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.

rs4552569

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr5:83877774 (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>A / C>G / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.255181 (85621/335530, ALFA)
C=0.252907 (66942/264690, TOPMED)
C=0.246911 (34576/140034, GnomAD) (+ 21 more)
C=0.25403 (19981/78656, PAGE_STUDY)
C=0.25975 (7340/28258, 14KJPN)
C=0.26092 (4373/16760, 8.3KJPN)
C=0.2402 (1538/6404, 1000G_30x)
C=0.2384 (1194/5008, 1000G)
C=0.1944 (871/4480, Estonian)
C=0.2372 (914/3854, ALSPAC)
C=0.2395 (888/3708, TWINSUK)
C=0.2819 (826/2930, KOREAN)
C=0.2831 (590/2084, HGDP_Stanford)
C=0.2519 (476/1890, HapMap)
C=0.2915 (534/1832, Korea1K)
C=0.223 (223/998, GoNL)
C=0.339 (268/790, PRJEB37584)
C=0.185 (111/600, NorthernSweden)
C=0.212 (111/524, SGDP_PRJ)
C=0.310 (67/216, Qatari)
C=0.212 (45/212, Vietnamese)
C=0.14 (8/56, Siberian)
C=0.27 (12/44, Ancient Sardinia)
C=0.20 (8/40, GENOME_DK)
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 340660 C=0.255078 T=0.744922
European Sub 297168 C=0.254206 T=0.745794
African Sub 9776 C=0.2256 T=0.7744
African Others Sub 384 C=0.208 T=0.792
African American Sub 9392 C=0.2263 T=0.7737
Asian Sub 3980 C=0.2751 T=0.7249
East Asian Sub 3204 C=0.2981 T=0.7019
Other Asian Sub 776 C=0.180 T=0.820
Latin American 1 Sub 1280 C=0.2477 T=0.7523
Latin American 2 Sub 9336 C=0.3255 T=0.6745
South Asian Sub 5234 C=0.2054 T=0.7946
Other Sub 13886 C=0.26084 T=0.73916


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 335530 C=0.255181 T=0.744819
Allele Frequency Aggregator European Sub 293998 C=0.254253 T=0.745747
Allele Frequency Aggregator Other Sub 13068 C=0.26209 T=0.73791
Allele Frequency Aggregator Latin American 2 Sub 9336 C=0.3255 T=0.6745
Allele Frequency Aggregator African Sub 8634 C=0.2224 T=0.7776
Allele Frequency Aggregator South Asian Sub 5234 C=0.2054 T=0.7946
Allele Frequency Aggregator Asian Sub 3980 C=0.2751 T=0.7249
Allele Frequency Aggregator Latin American 1 Sub 1280 C=0.2477 T=0.7523
TopMed Global Study-wide 264690 C=0.252907 T=0.747093
gnomAD - Genomes Global Study-wide 140034 C=0.246911 T=0.753089
gnomAD - Genomes European Sub 75864 C=0.25423 T=0.74577
gnomAD - Genomes African Sub 41946 C=0.21630 T=0.78370
gnomAD - Genomes American Sub 13634 C=0.29162 T=0.70838
gnomAD - Genomes Ashkenazi Jewish Sub 3322 C=0.2315 T=0.7685
gnomAD - Genomes East Asian Sub 3116 C=0.2863 T=0.7137
gnomAD - Genomes Other Sub 2152 C=0.2691 T=0.7309
The PAGE Study Global Study-wide 78656 C=0.25403 T=0.74597
The PAGE Study AfricanAmerican Sub 32504 C=0.22056 T=0.77944
The PAGE Study Mexican Sub 10800 C=0.33713 T=0.66287
The PAGE Study Asian Sub 8312 C=0.2519 T=0.7481
The PAGE Study PuertoRican Sub 7916 C=0.2303 T=0.7697
The PAGE Study NativeHawaiian Sub 4528 C=0.2438 T=0.7562
The PAGE Study Cuban Sub 4230 C=0.2865 T=0.7135
The PAGE Study Dominican Sub 3828 C=0.2675 T=0.7325
The PAGE Study CentralAmerican Sub 2446 C=0.3193 T=0.6807
The PAGE Study SouthAmerican Sub 1982 C=0.3133 T=0.6867
The PAGE Study NativeAmerican Sub 1254 C=0.2799 T=0.7201
The PAGE Study SouthAsian Sub 856 C=0.188 T=0.812
14KJPN JAPANESE Study-wide 28258 C=0.25975 T=0.74025
8.3KJPN JAPANESE Study-wide 16760 C=0.26092 T=0.73908
1000Genomes_30x Global Study-wide 6404 C=0.2402 T=0.7598
1000Genomes_30x African Sub 1786 C=0.2178 T=0.7822
1000Genomes_30x Europe Sub 1266 C=0.2662 T=0.7338
1000Genomes_30x South Asian Sub 1202 C=0.1997 T=0.8003
1000Genomes_30x East Asian Sub 1170 C=0.2607 T=0.7393
1000Genomes_30x American Sub 980 C=0.272 T=0.728
1000Genomes Global Study-wide 5008 C=0.2384 T=0.7616
1000Genomes African Sub 1322 C=0.2194 T=0.7806
1000Genomes East Asian Sub 1008 C=0.2550 T=0.7450
1000Genomes Europe Sub 1006 C=0.2674 T=0.7326
1000Genomes South Asian Sub 978 C=0.191 T=0.809
1000Genomes American Sub 694 C=0.275 T=0.725
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.1944 T=0.8056
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.2372 T=0.7628
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.2395 T=0.7605
KOREAN population from KRGDB KOREAN Study-wide 2930 C=0.2819 A=0.0000, G=0.0000, T=0.7181
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 C=0.2831 T=0.7169
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 C=0.283 T=0.717
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 C=0.287 T=0.713
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 C=0.297 T=0.703
HGDP-CEPH-db Supplement 1 Europe Sub 320 C=0.228 T=0.772
HGDP-CEPH-db Supplement 1 Africa Sub 242 C=0.190 T=0.810
HGDP-CEPH-db Supplement 1 America Sub 216 C=0.366 T=0.634
HGDP-CEPH-db Supplement 1 Oceania Sub 72 C=0.50 T=0.50
HapMap Global Study-wide 1890 C=0.2519 T=0.7481
HapMap American Sub 770 C=0.242 T=0.758
HapMap African Sub 690 C=0.238 T=0.762
HapMap Asian Sub 254 C=0.307 T=0.693
HapMap Europe Sub 176 C=0.273 T=0.727
Korean Genome Project KOREAN Study-wide 1832 C=0.2915 T=0.7085
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.223 T=0.777
CNV burdens in cranial meningiomas Global Study-wide 790 C=0.339 T=0.661
CNV burdens in cranial meningiomas CRM Sub 790 C=0.339 T=0.661
Northern Sweden ACPOP Study-wide 600 C=0.185 T=0.815
SGDP_PRJ Global Study-wide 524 C=0.212 T=0.788
Qatari Global Study-wide 216 C=0.310 T=0.690
A Vietnamese Genetic Variation Database Global Study-wide 212 C=0.212 T=0.788
Siberian Global Study-wide 56 C=0.14 T=0.86
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 44 C=0.27 T=0.73
The Danish reference pan genome Danish Study-wide 40 C=0.20 T=0.80
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.83877774C>A
GRCh38.p14 chr 5 NC_000005.10:g.83877774C>G
GRCh38.p14 chr 5 NC_000005.10:g.83877774C>T
GRCh37.p13 chr 5 NC_000005.9:g.83173593C>A
GRCh37.p13 chr 5 NC_000005.9:g.83173593C>G
GRCh37.p13 chr 5 NC_000005.9:g.83173593C>T
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= A G T
GRCh38.p14 chr 5 NC_000005.10:g.83877774= NC_000005.10:g.83877774C>A NC_000005.10:g.83877774C>G NC_000005.10:g.83877774C>T
GRCh37.p13 chr 5 NC_000005.9:g.83173593= NC_000005.9:g.83173593C>A NC_000005.9:g.83173593C>G NC_000005.9:g.83173593C>T
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#.

152 SubSNP, 24 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_JCM ss6150643 Feb 20, 2003 (111)
2 WI_SSAHASNP ss14660842 Dec 05, 2003 (119)
3 SSAHASNP ss22309130 Apr 05, 2004 (121)
4 PERLEGEN ss24135976 Sep 20, 2004 (123)
5 ABI ss44671782 Mar 13, 2006 (126)
6 ILLUMINA ss66560777 Nov 30, 2006 (127)
7 ILLUMINA ss67345375 Nov 30, 2006 (127)
8 ILLUMINA ss67739012 Nov 30, 2006 (127)
9 ILLUMINA ss70809204 May 27, 2008 (130)
10 ILLUMINA ss71389179 May 17, 2007 (127)
11 ILLUMINA ss75794331 Dec 06, 2007 (129)
12 AFFY ss76466202 Dec 06, 2007 (129)
13 ILLUMINA ss79185296 Dec 16, 2007 (130)
14 HGSV ss80640391 Dec 16, 2007 (130)
15 KRIBB_YJKIM ss84289391 Dec 16, 2007 (130)
16 BCMHGSC_JDW ss93156442 Mar 24, 2008 (129)
17 HUMANGENOME_JCVI ss98629083 Feb 06, 2009 (130)
18 BGI ss104211806 Dec 01, 2009 (131)
19 1000GENOMES ss109177429 Jan 23, 2009 (130)
20 1000GENOMES ss112111684 Jan 25, 2009 (130)
21 ILLUMINA-UK ss116693241 Feb 14, 2009 (130)
22 ILLUMINA ss122329160 Dec 01, 2009 (131)
23 ENSEMBL ss142888057 Dec 01, 2009 (131)
24 ENSEMBL ss143251140 Dec 01, 2009 (131)
25 ILLUMINA ss154299926 Dec 01, 2009 (131)
26 GMI ss155671594 Dec 01, 2009 (131)
27 ILLUMINA ss159476770 Dec 01, 2009 (131)
28 ILLUMINA ss160687031 Dec 01, 2009 (131)
29 COMPLETE_GENOMICS ss162412586 Jul 04, 2010 (132)
30 COMPLETE_GENOMICS ss165380452 Jul 04, 2010 (132)
31 COMPLETE_GENOMICS ss166758034 Jul 04, 2010 (132)
32 ILLUMINA ss171821713 Jul 04, 2010 (132)
33 ILLUMINA ss173751700 Jul 04, 2010 (132)
34 BUSHMAN ss200473384 Jul 04, 2010 (132)
35 BCM-HGSC-SUB ss206715731 Jul 04, 2010 (132)
36 1000GENOMES ss221779242 Jul 14, 2010 (132)
37 1000GENOMES ss233017731 Jul 14, 2010 (132)
38 1000GENOMES ss240174540 Jul 15, 2010 (132)
39 BL ss253586435 May 09, 2011 (134)
40 GMI ss278361934 May 04, 2012 (137)
41 GMI ss285208902 Apr 25, 2013 (138)
42 PJP ss293392874 May 09, 2011 (134)
43 ILLUMINA ss480968486 May 04, 2012 (137)
44 ILLUMINA ss480988575 May 04, 2012 (137)
45 ILLUMINA ss481962234 Sep 08, 2015 (146)
46 ILLUMINA ss485279170 May 04, 2012 (137)
47 ILLUMINA ss537245130 Sep 08, 2015 (146)
48 TISHKOFF ss558511008 Apr 25, 2013 (138)
49 SSMP ss652385011 Apr 25, 2013 (138)
50 ILLUMINA ss778538680 Sep 08, 2015 (146)
51 ILLUMINA ss783085506 Sep 08, 2015 (146)
52 ILLUMINA ss784043044 Sep 08, 2015 (146)
53 ILLUMINA ss825515814 Apr 01, 2015 (144)
54 ILLUMINA ss832343902 Sep 08, 2015 (146)
55 ILLUMINA ss832988223 Jul 13, 2019 (153)
56 ILLUMINA ss833995283 Sep 08, 2015 (146)
57 EVA-GONL ss981762689 Aug 21, 2014 (142)
58 JMKIDD_LAB ss1072775515 Aug 21, 2014 (142)
59 1000GENOMES ss1315841220 Aug 21, 2014 (142)
60 DDI ss1430402368 Apr 01, 2015 (144)
61 EVA_GENOME_DK ss1581213418 Apr 01, 2015 (144)
62 EVA_DECODE ss1591280836 Apr 01, 2015 (144)
63 EVA_UK10K_ALSPAC ss1613282403 Apr 01, 2015 (144)
64 EVA_UK10K_TWINSUK ss1656276436 Apr 01, 2015 (144)
65 EVA_SVP ss1712778105 Apr 01, 2015 (144)
66 ILLUMINA ss1752587723 Sep 08, 2015 (146)
67 HAMMER_LAB ss1803772982 Sep 08, 2015 (146)
68 WEILL_CORNELL_DGM ss1925017338 Feb 12, 2016 (147)
69 ILLUMINA ss1946148711 Feb 12, 2016 (147)
70 ILLUMINA ss1958800748 Feb 12, 2016 (147)
71 GENOMED ss1970132366 Jul 19, 2016 (147)
72 JJLAB ss2023115244 Sep 14, 2016 (149)
73 ILLUMINA ss2094818726 Dec 20, 2016 (150)
74 ILLUMINA ss2095157944 Dec 20, 2016 (150)
75 USC_VALOUEV ss2151271687 Dec 20, 2016 (150)
76 HUMAN_LONGEVITY ss2275245644 Dec 20, 2016 (150)
77 SYSTEMSBIOZJU ss2626054744 Nov 08, 2017 (151)
78 ILLUMINA ss2634302328 Nov 08, 2017 (151)
79 GRF ss2706824261 Nov 08, 2017 (151)
80 ILLUMINA ss2711042603 Nov 08, 2017 (151)
81 GNOMAD ss2826793096 Nov 08, 2017 (151)
82 AFFY ss2985325962 Nov 08, 2017 (151)
83 AFFY ss2985958032 Nov 08, 2017 (151)
84 SWEGEN ss2997242972 Nov 08, 2017 (151)
85 ILLUMINA ss3022503978 Nov 08, 2017 (151)
86 BIOINF_KMB_FNS_UNIBA ss3025342825 Nov 08, 2017 (151)
87 CSHL ss3346473187 Nov 08, 2017 (151)
88 ILLUMINA ss3625876924 Oct 12, 2018 (152)
89 ILLUMINA ss3629274991 Oct 12, 2018 (152)
90 ILLUMINA ss3632228185 Oct 12, 2018 (152)
91 ILLUMINA ss3633380396 Oct 12, 2018 (152)
92 ILLUMINA ss3634101216 Oct 12, 2018 (152)
93 ILLUMINA ss3635010035 Oct 12, 2018 (152)
94 ILLUMINA ss3635783133 Oct 12, 2018 (152)
95 ILLUMINA ss3636722011 Oct 12, 2018 (152)
96 ILLUMINA ss3637535763 Oct 12, 2018 (152)
97 ILLUMINA ss3638564062 Oct 12, 2018 (152)
98 ILLUMINA ss3639284688 Oct 12, 2018 (152)
99 ILLUMINA ss3639665938 Oct 12, 2018 (152)
100 ILLUMINA ss3640717328 Oct 12, 2018 (152)
101 ILLUMINA ss3641181756 Oct 12, 2018 (152)
102 ILLUMINA ss3641478685 Oct 12, 2018 (152)
103 ILLUMINA ss3643509309 Oct 12, 2018 (152)
104 ILLUMINA ss3644881673 Oct 12, 2018 (152)
105 URBANLAB ss3648103890 Oct 12, 2018 (152)
106 ILLUMINA ss3653000970 Oct 12, 2018 (152)
107 ILLUMINA ss3654099838 Oct 12, 2018 (152)
108 EGCUT_WGS ss3665123272 Jul 13, 2019 (153)
109 EVA_DECODE ss3715046138 Jul 13, 2019 (153)
110 ILLUMINA ss3726246881 Jul 13, 2019 (153)
111 ACPOP ss3732518975 Jul 13, 2019 (153)
112 ILLUMINA ss3744255553 Jul 13, 2019 (153)
113 ILLUMINA ss3744537366 Jul 13, 2019 (153)
114 ILLUMINA ss3745310237 Jul 13, 2019 (153)
115 EVA ss3763654919 Jul 13, 2019 (153)
116 PAGE_CC ss3771213509 Jul 13, 2019 (153)
117 ILLUMINA ss3772804361 Jul 13, 2019 (153)
118 PACBIO ss3785162305 Jul 13, 2019 (153)
119 PACBIO ss3790560422 Jul 13, 2019 (153)
120 PACBIO ss3795437022 Jul 13, 2019 (153)
121 KHV_HUMAN_GENOMES ss3806821965 Jul 13, 2019 (153)
122 EVA ss3829337599 Apr 26, 2020 (154)
123 EVA ss3838142464 Apr 26, 2020 (154)
124 EVA ss3843583656 Apr 26, 2020 (154)
125 HGDP ss3847796841 Apr 26, 2020 (154)
126 SGDP_PRJ ss3862256941 Apr 26, 2020 (154)
127 KRGDB ss3908838962 Apr 26, 2020 (154)
128 KOGIC ss3957035891 Apr 26, 2020 (154)
129 EVA ss3984549902 Apr 26, 2021 (155)
130 EVA ss3985152318 Apr 26, 2021 (155)
131 EVA ss4017216284 Apr 26, 2021 (155)
132 TOPMED ss4666488587 Apr 26, 2021 (155)
133 TOMMO_GENOMICS ss5172611702 Apr 26, 2021 (155)
134 1000G_HIGH_COVERAGE ss5264637713 Oct 13, 2022 (156)
135 EVA ss5315065154 Oct 13, 2022 (156)
136 EVA ss5358768163 Oct 13, 2022 (156)
137 HUGCELL_USP ss5462742467 Oct 13, 2022 (156)
138 EVA ss5508087054 Oct 13, 2022 (156)
139 1000G_HIGH_COVERAGE ss5548626020 Oct 13, 2022 (156)
140 SANFORD_IMAGENETICS ss5624593851 Oct 13, 2022 (156)
141 SANFORD_IMAGENETICS ss5638183998 Oct 13, 2022 (156)
142 TOMMO_GENOMICS ss5709254945 Oct 13, 2022 (156)
143 EVA ss5799653989 Oct 13, 2022 (156)
144 YY_MCH ss5806482952 Oct 13, 2022 (156)
145 EVA ss5835182704 Oct 13, 2022 (156)
146 EVA ss5847269395 Oct 13, 2022 (156)
147 EVA ss5848055371 Oct 13, 2022 (156)
148 EVA ss5854890076 Oct 13, 2022 (156)
149 EVA ss5894934725 Oct 13, 2022 (156)
150 EVA ss5966619760 Oct 13, 2022 (156)
151 EVA ss5979745261 Oct 13, 2022 (156)
152 EVA ss5980303670 Oct 13, 2022 (156)
153 1000Genomes NC_000005.9 - 83173593 Oct 12, 2018 (152)
154 1000Genomes_30x NC_000005.10 - 83877774 Oct 13, 2022 (156)
155 The Avon Longitudinal Study of Parents and Children NC_000005.9 - 83173593 Oct 12, 2018 (152)
156 Genetic variation in the Estonian population NC_000005.9 - 83173593 Oct 12, 2018 (152)
157 The Danish reference pan genome NC_000005.9 - 83173593 Apr 26, 2020 (154)
158 gnomAD - Genomes NC_000005.10 - 83877774 Apr 26, 2021 (155)
159 Genome of the Netherlands Release 5 NC_000005.9 - 83173593 Apr 26, 2020 (154)
160 HGDP-CEPH-db Supplement 1 NC_000005.8 - 83209349 Apr 26, 2020 (154)
161 HapMap NC_000005.10 - 83877774 Apr 26, 2020 (154)
162 KOREAN population from KRGDB NC_000005.9 - 83173593 Apr 26, 2020 (154)
163 Korean Genome Project NC_000005.10 - 83877774 Apr 26, 2020 (154)
164 Northern Sweden NC_000005.9 - 83173593 Jul 13, 2019 (153)
165 The PAGE Study NC_000005.10 - 83877774 Jul 13, 2019 (153)
166 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000005.9 - 83173593 Apr 26, 2021 (155)
167 CNV burdens in cranial meningiomas NC_000005.9 - 83173593 Apr 26, 2021 (155)
168 Qatari NC_000005.9 - 83173593 Apr 26, 2020 (154)
169 SGDP_PRJ NC_000005.9 - 83173593 Apr 26, 2020 (154)
170 Siberian NC_000005.9 - 83173593 Apr 26, 2020 (154)
171 8.3KJPN NC_000005.9 - 83173593 Apr 26, 2021 (155)
172 14KJPN NC_000005.10 - 83877774 Oct 13, 2022 (156)
173 TopMed NC_000005.10 - 83877774 Apr 26, 2021 (155)
174 UK 10K study - Twins NC_000005.9 - 83173593 Oct 12, 2018 (152)
175 A Vietnamese Genetic Variation Database NC_000005.9 - 83173593 Jul 13, 2019 (153)
176 ALFA NC_000005.10 - 83877774 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)
rs61566952 May 27, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
16016356, ss3908838962 NC_000005.9:83173592:C:A NC_000005.10:83877773:C:A (self)
16016356, ss3908838962 NC_000005.9:83173592:C:G NC_000005.10:83877773:C:G (self)
474733, ss80640391, ss93156442, ss109177429, ss112111684, ss116693241, ss162412586, ss165380452, ss166758034, ss200473384, ss206715731, ss253586435, ss278361934, ss285208902, ss293392874, ss480968486, ss825515814, ss1591280836, ss1712778105, ss3639284688, ss3639665938, ss3643509309, ss3847796841 NC_000005.8:83209348:C:T NC_000005.10:83877773:C:T (self)
27469257, 15274041, 10861520, 7378357, 6790429, 16016356, 5803840, 378245, 99271, 7059268, 14273921, 3788041, 30581009, 15274041, 3390257, ss221779242, ss233017731, ss240174540, ss480988575, ss481962234, ss485279170, ss537245130, ss558511008, ss652385011, ss778538680, ss783085506, ss784043044, ss832343902, ss832988223, ss833995283, ss981762689, ss1072775515, ss1315841220, ss1430402368, ss1581213418, ss1613282403, ss1656276436, ss1752587723, ss1803772982, ss1925017338, ss1946148711, ss1958800748, ss1970132366, ss2023115244, ss2094818726, ss2095157944, ss2151271687, ss2626054744, ss2634302328, ss2706824261, ss2711042603, ss2826793096, ss2985325962, ss2985958032, ss2997242972, ss3022503978, ss3346473187, ss3625876924, ss3629274991, ss3632228185, ss3633380396, ss3634101216, ss3635010035, ss3635783133, ss3636722011, ss3637535763, ss3638564062, ss3640717328, ss3641181756, ss3641478685, ss3644881673, ss3653000970, ss3654099838, ss3665123272, ss3732518975, ss3744255553, ss3744537366, ss3745310237, ss3763654919, ss3772804361, ss3785162305, ss3790560422, ss3795437022, ss3829337599, ss3838142464, ss3862256941, ss3908838962, ss3984549902, ss3985152318, ss4017216284, ss5172611702, ss5315065154, ss5358768163, ss5508087054, ss5624593851, ss5638183998, ss5799653989, ss5835182704, ss5847269395, ss5848055371, ss5966619760, ss5979745261, ss5980303670 NC_000005.9:83173592:C:T NC_000005.10:83877773:C:T (self)
36151955, 194184660, 2903373, 13413892, 434978, 43092049, 503866144, 254214872, ss2275245644, ss3025342825, ss3648103890, ss3715046138, ss3726246881, ss3771213509, ss3806821965, ss3843583656, ss3957035891, ss4666488587, ss5264637713, ss5462742467, ss5548626020, ss5709254945, ss5806482952, ss5854890076, ss5894934725 NC_000005.10:83877773:C:T NC_000005.10:83877773:C:T (self)
ss14660842, ss22309130 NT_006713.13:12565724:C:T NC_000005.10:83877773:C:T (self)
ss6150643, ss24135976, ss44671782, ss66560777, ss67345375, ss67739012, ss70809204, ss71389179, ss75794331, ss76466202, ss79185296, ss84289391, ss98629083, ss104211806, ss122329160, ss142888057, ss143251140, ss154299926, ss155671594, ss159476770, ss160687031, ss171821713, ss173751700 NT_006713.15:33767951:C:T NC_000005.10:83877773: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 rs4552569
PMID Title Author Year Journal
22138694 A genome-wide association study in Han Chinese identifies new susceptibility loci for ankylosing spondylitis. Lin Z et al. 2011 Nature genetics
27047576 Association Study of Single Nucleotide Polymorphisms Rs4552569/Rs17095830 with Ankylosing Spondylitis in A Chinese Population. Wang Q et al. 2016 The open rheumatology journal
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