Name: rs3809973
Published: September 21, 2022
License: Open Access

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.

rs3809973

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr18:58537700 (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>G
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.471229 (127407/270372, ALFA)
G=0.483815 (128061/264690, TOPMED)
G=0.464829 (116382/250376, GnomAD_exome) (+ 28 more)
G=0.499129 (69877/139998, GnomAD)
G=0.468765 (56789/121146, ExAC)
G=0.43080 (33894/78676, PAGE_STUDY)
G=0.34270 (9684/28258, 14KJPN)
G=0.34153 (5724/16760, 8.3KJPN)
T=0.49469 (6434/13006, GO-ESP)
G=0.4071 (2607/6404, 1000G_30x)
G=0.4044 (2025/5008, 1000G)
T=0.4576 (2050/4480, Estonian)
T=0.4421 (1704/3854, ALSPAC)
T=0.4506 (1671/3708, TWINSUK)
G=0.2734 (799/2922, KOREAN)
G=0.3575 (745/2084, HGDP_Stanford)
G=0.3992 (752/1884, HapMap)
G=0.4749 (529/1114, Daghestan)
T=0.466 (465/998, GoNL)
G=0.215 (167/776, PRJEB37584)
G=0.406 (254/626, Chileans)
G=0.203 (124/611, Vietnamese)
T=0.450 (270/600, NorthernSweden)
T=0.440 (235/534, MGP)
T=0.461 (140/304, FINRISK)
T=0.373 (112/300, SGDP_PRJ)
G=0.356 (77/216, Qatari)
T=0.50 (38/76, Ancient Sardinia)
G=0.50 (38/76, Ancient Sardinia)
T=0.47 (19/40, GENOME_DK)
T=0.39 (14/36, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: ALPK2 : Missense Variant
Publications: 0 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	286822	T=0.472038	G=0.527962
European	Sub	233972	T=0.452306	G=0.547694
African	Sub	15914	T=0.55272	G=0.44728
African Others	Sub	536	T=0.567	G=0.433
African American	Sub	15378	T=0.55222	G=0.44778
Asian	Sub	3524	T=0.7860	G=0.2140
East Asian	Sub	2156	T=0.7885	G=0.2115
Other Asian	Sub	1368	T=0.7822	G=0.2178
Latin American 1	Sub	1232	T=0.5024	G=0.4976
Latin American 2	Sub	4774	T=0.5947	G=0.4053
South Asian	Sub	5022	T=0.6205	G=0.3795
Other	Sub	22384	T=0.51036	G=0.48964

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").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	270372	T=0.471229	G=0.528771
Allele Frequency Aggregator	European	Sub	223796	T=0.452247	G=0.547753
Allele Frequency Aggregator	Other	Sub	20944	T=0.51413	G=0.48587
Allele Frequency Aggregator	African	Sub	11080	T=0.54910	G=0.45090
Allele Frequency Aggregator	South Asian	Sub	5022	T=0.6205	G=0.3795
Allele Frequency Aggregator	Latin American 2	Sub	4774	T=0.5947	G=0.4053
Allele Frequency Aggregator	Asian	Sub	3524	T=0.7860	G=0.2140
Allele Frequency Aggregator	Latin American 1	Sub	1232	T=0.5024	G=0.4976
TopMed	Global	Study-wide	264690	T=0.516185	G=0.483815
gnomAD - Exomes	Global	Study-wide	250376	T=0.535171	G=0.464829
gnomAD - Exomes	European	Sub	134666	T=0.451755	G=0.548245
gnomAD - Exomes	Asian	Sub	48842	T=0.68578	G=0.31422
gnomAD - Exomes	American	Sub	34502	T=0.63611	G=0.36389
gnomAD - Exomes	African	Sub	16234	T=0.54589	G=0.45411
gnomAD - Exomes	Ashkenazi Jewish	Sub	10024	T=0.57642	G=0.42358
gnomAD - Exomes	Other	Sub	6108	T=0.5036	G=0.4964
gnomAD - Genomes	Global	Study-wide	139998	T=0.500871	G=0.499129
gnomAD - Genomes	European	Sub	75830	T=0.45098	G=0.54902
gnomAD - Genomes	African	Sub	41924	T=0.54942	G=0.45058
gnomAD - Genomes	American	Sub	13648	T=0.55026	G=0.44974
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	T=0.5797	G=0.4203
gnomAD - Genomes	East Asian	Sub	3124	T=0.7727	G=0.2273
gnomAD - Genomes	Other	Sub	2148	T=0.4832	G=0.5168
ExAC	Global	Study-wide	121146	T=0.531235	G=0.468765
ExAC	Europe	Sub	73200	T=0.46040	G=0.53960
ExAC	Asian	Sub	25090	T=0.67712	G=0.32288
ExAC	American	Sub	11554	T=0.65544	G=0.34456
ExAC	African	Sub	10394	T=0.54262	G=0.45738
ExAC	Other	Sub	908	T=0.500	G=0.500
The PAGE Study	Global	Study-wide	78676	T=0.56920	G=0.43080
The PAGE Study	AfricanAmerican	Sub	32512	T=0.54691	G=0.45309
The PAGE Study	Mexican	Sub	10798	T=0.62252	G=0.37748
The PAGE Study	Asian	Sub	8318	T=0.6717	G=0.3283
The PAGE Study	PuertoRican	Sub	7912	T=0.4762	G=0.5238
The PAGE Study	NativeHawaiian	Sub	4532	T=0.7034	G=0.2966
The PAGE Study	Cuban	Sub	4230	T=0.4730	G=0.5270
The PAGE Study	Dominican	Sub	3826	T=0.5029	G=0.4971
The PAGE Study	CentralAmerican	Sub	2450	T=0.5833	G=0.4167
The PAGE Study	SouthAmerican	Sub	1982	T=0.5792	G=0.4208
The PAGE Study	NativeAmerican	Sub	1260	T=0.5460	G=0.4540
The PAGE Study	SouthAsian	Sub	856	T=0.638	G=0.362
14KJPN	JAPANESE	Study-wide	28258	T=0.65730	G=0.34270
8.3KJPN	JAPANESE	Study-wide	16760	T=0.65847	G=0.34153
GO Exome Sequencing Project	Global	Study-wide	13006	T=0.49469	G=0.50531
GO Exome Sequencing Project	European American	Sub	8600	T=0.4665	G=0.5335
GO Exome Sequencing Project	African American	Sub	4406	T=0.5497	G=0.4503
1000Genomes_30x	Global	Study-wide	6404	T=0.5929	G=0.4071
1000Genomes_30x	African	Sub	1786	T=0.5649	G=0.4351
1000Genomes_30x	Europe	Sub	1266	T=0.4329	G=0.5671
1000Genomes_30x	South Asian	Sub	1202	T=0.6439	G=0.3561
1000Genomes_30x	East Asian	Sub	1170	T=0.7726	G=0.2274
1000Genomes_30x	American	Sub	980	T=0.573	G=0.427
1000Genomes	Global	Study-wide	5008	T=0.5956	G=0.4044
1000Genomes	African	Sub	1322	T=0.5681	G=0.4319
1000Genomes	East Asian	Sub	1008	T=0.7639	G=0.2361
1000Genomes	Europe	Sub	1006	T=0.4274	G=0.5726
1000Genomes	South Asian	Sub	978	T=0.650	G=0.350
1000Genomes	American	Sub	694	T=0.571	G=0.429
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.4576	G=0.5424
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.4421	G=0.5579
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.4506	G=0.5494
KOREAN population from KRGDB	KOREAN	Study-wide	2922	T=0.7266	G=0.2734
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	T=0.6425	G=0.3575
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	T=0.760	G=0.240
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	T=0.616	G=0.384
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	T=0.580	G=0.420
HGDP-CEPH-db Supplement 1	Europe	Sub	320	T=0.475	G=0.525
HGDP-CEPH-db Supplement 1	Africa	Sub	242	T=0.686	G=0.314
HGDP-CEPH-db Supplement 1	America	Sub	216	T=0.782	G=0.218
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	T=0.51	G=0.49
HapMap	Global	Study-wide	1884	T=0.6008	G=0.3992
HapMap	American	Sub	768	T=0.581	G=0.419
HapMap	African	Sub	686	T=0.633	G=0.367
HapMap	Asian	Sub	254	T=0.705	G=0.295
HapMap	Europe	Sub	176	T=0.415	G=0.585
Genome-wide autozygosity in Daghestan	Global	Study-wide	1114	T=0.5251	G=0.4749
Genome-wide autozygosity in Daghestan	Daghestan	Sub	616	T=0.503	G=0.497
Genome-wide autozygosity in Daghestan	Near_East	Sub	136	T=0.522	G=0.478
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	T=0.574	G=0.426
Genome-wide autozygosity in Daghestan	Europe	Sub	108	T=0.444	G=0.556
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	T=0.73	G=0.27
Genome-wide autozygosity in Daghestan	Caucasus	Sub	34	T=0.41	G=0.59
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.466	G=0.534
CNV burdens in cranial meningiomas	Global	Study-wide	776	T=0.785	G=0.215
CNV burdens in cranial meningiomas	CRM	Sub	776	T=0.785	G=0.215
Chileans	Chilean	Study-wide	626	T=0.594	G=0.406
A Vietnamese Genetic Variation Database	Global	Study-wide	611	T=0.797	G=0.203
Northern Sweden	ACPOP	Study-wide	600	T=0.450	G=0.550
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	T=0.440	G=0.560
FINRISK	Finnish from FINRISK project	Study-wide	304	T=0.461	G=0.539
SGDP_PRJ	Global	Study-wide	300	T=0.373	G=0.627
Qatari	Global	Study-wide	216	T=0.644	G=0.356
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	76	T=0.50	G=0.50
The Danish reference pan genome	Danish	Study-wide	40	T=0.47	G=0.53
Siberian	Global	Study-wide	36	T=0.39	G=0.61

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 18	NC_000018.10:g.58537700T>G
GRCh37.p13 chr 18	NC_000018.9:g.56204932T>G

Gene: ALPK2, alpha kinase 2 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ALPK2 transcript	NM_052947.4:c.2487A>C	K [AAA] > N [AAC]	Coding Sequence Variant
alpha-protein kinase 2	NP_443179.3:p.Lys829Asn	K (Lys) > N (Asn)	Missense Variant

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

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=	G
GRCh38.p14 chr 18	NC_000018.10:g.58537700=	NC_000018.10:g.58537700T>G
GRCh37.p13 chr 18	NC_000018.9:g.56204932=	NC_000018.9:g.56204932T>G
ALPK2 transcript	NM_052947.4:c.2487=	NM_052947.4:c.2487A>C
ALPK2 transcript	NM_052947.3:c.2487=	NM_052947.3:c.2487A>C
alpha-protein kinase 2	NP_443179.3:p.Lys829=	NP_443179.3:p.Lys829Asn

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#.

173 SubSNP, 30 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	YUSUKE	ss4996376	Aug 28, 2002 (107)
2	WI_SSAHASNP	ss6834161	Feb 20, 2003 (111)
3	WI_SSAHASNP	ss14404715	Dec 05, 2003 (119)
4	PERLEGEN	ss23563015	Sep 20, 2004 (123)
5	ABI	ss44137470	Mar 13, 2006 (126)
6	CANCER-GENOME	ss48533656	Mar 13, 2006 (126)
7	ILLUMINA	ss65727976	Oct 13, 2006 (127)
8	AFFY	ss66274297	Nov 29, 2006 (127)
9	ILLUMINA	ss66649351	Nov 29, 2006 (127)
10	ILLUMINA	ss67305468	Nov 29, 2006 (127)
11	ILLUMINA	ss67710609	Nov 29, 2006 (127)
12	PERLEGEN	ss69216135	May 16, 2007 (127)
13	ILLUMINA	ss70784120	May 23, 2008 (130)
14	ILLUMINA	ss71360798	May 16, 2007 (127)
15	ILLUMINA	ss75517463	Dec 07, 2007 (129)
16	AFFY	ss76419026	Dec 07, 2007 (129)
17	ILLUMINA	ss79168930	Dec 14, 2007 (130)
18	KRIBB_YJKIM	ss84193677	Dec 14, 2007 (130)
19	CORNELL	ss86240782	Mar 23, 2008 (129)
20	BCMHGSC_JDW	ss90810922	Mar 24, 2008 (129)
21	HUMANGENOME_JCVI	ss96515702	Feb 02, 2009 (130)
22	1000GENOMES	ss110633854	Jan 25, 2009 (130)
23	1000GENOMES	ss114472553	Jan 25, 2009 (130)
24	ILLUMINA	ss122232837	Dec 01, 2009 (131)
25	ENSEMBL	ss136393271	Dec 01, 2009 (131)
26	ENSEMBL	ss137410310	Dec 01, 2009 (131)
27	ILLUMINA	ss154271770	Dec 01, 2009 (131)
28	ILLUMINA	ss159448500	Dec 01, 2009 (131)
29	SEATTLESEQ	ss159737390	Dec 01, 2009 (131)
30	ILLUMINA	ss160645625	Dec 01, 2009 (131)
31	COMPLETE_GENOMICS	ss168329128	Jul 04, 2010 (132)
32	COMPLETE_GENOMICS	ss169967724	Jul 04, 2010 (132)
33	ILLUMINA	ss171673004	Jul 04, 2010 (132)
34	COMPLETE_GENOMICS	ss171855232	Jul 04, 2010 (132)
35	AFFY	ss173522684	Jul 04, 2010 (132)
36	ILLUMINA	ss173649137	Jul 04, 2010 (132)
37	BCM-HGSC-SUB	ss208170540	Jul 04, 2010 (132)
38	1000GENOMES	ss227901152	Jul 14, 2010 (132)
39	1000GENOMES	ss237497156	Jul 15, 2010 (132)
40	1000GENOMES	ss243739702	Jul 15, 2010 (132)
41	GMI	ss283019050	May 04, 2012 (137)
42	GMI	ss287296137	Apr 25, 2013 (138)
43	PJP	ss292083426	May 09, 2011 (134)
44	NHLBI-ESP	ss342475580	May 09, 2011 (134)
45	ILLUMINA	ss480845468	May 04, 2012 (137)
46	ILLUMINA	ss480862714	May 04, 2012 (137)
47	ILLUMINA	ss481797268	Sep 08, 2015 (146)
48	ILLUMINA	ss485217624	May 04, 2012 (137)
49	1000GENOMES	ss491140846	May 04, 2012 (137)
50	EXOME_CHIP	ss491533873	May 04, 2012 (137)
51	CLINSEQ_SNP	ss491750911	May 04, 2012 (137)
52	ILLUMINA	ss535596941	Sep 08, 2015 (146)
53	ILLUMINA	ss537198463	Sep 08, 2015 (146)
54	TISHKOFF	ss565689338	Apr 25, 2013 (138)
55	SSMP	ss661524966	Apr 25, 2013 (138)
56	ILLUMINA	ss778525360	Sep 08, 2015 (146)
57	ILLUMINA	ss780736983	Sep 08, 2015 (146)
58	ILLUMINA	ss783054768	Sep 08, 2015 (146)
59	ILLUMINA	ss783413807	Sep 08, 2015 (146)
60	ILLUMINA	ss784013111	Sep 08, 2015 (146)
61	ILLUMINA	ss825499448	Jul 19, 2016 (147)
62	ILLUMINA	ss832312662	Sep 08, 2015 (146)
63	ILLUMINA	ss832960057	Jul 13, 2019 (153)
64	ILLUMINA	ss833981825	Sep 08, 2015 (146)
65	JMKIDD_LAB	ss974502216	Aug 21, 2014 (142)
66	EVA-GONL	ss993809313	Aug 21, 2014 (142)
67	JMKIDD_LAB	ss1067579507	Aug 21, 2014 (142)
68	JMKIDD_LAB	ss1081560290	Aug 21, 2014 (142)
69	1000GENOMES	ss1361334305	Aug 21, 2014 (142)
70	HAMMER_LAB	ss1397747971	Sep 08, 2015 (146)
71	DDI	ss1428242828	Apr 01, 2015 (144)
72	EVA_GENOME_DK	ss1578437095	Apr 01, 2015 (144)
73	EVA_FINRISK	ss1584111339	Apr 01, 2015 (144)
74	EVA_UK10K_ALSPAC	ss1637044691	Apr 01, 2015 (144)
75	EVA_UK10K_TWINSUK	ss1680038724	Apr 01, 2015 (144)
76	EVA_EXAC	ss1693164622	Apr 01, 2015 (144)
77	EVA_DECODE	ss1697871349	Apr 01, 2015 (144)
78	EVA_MGP	ss1711487538	Apr 01, 2015 (144)
79	EVA_SVP	ss1713632085	Apr 01, 2015 (144)
80	ILLUMINA	ss1752261404	Sep 08, 2015 (146)
81	ILLUMINA	ss1752261405	Sep 08, 2015 (146)
82	HAMMER_LAB	ss1809084945	Sep 08, 2015 (146)
83	ILLUMINA	ss1917927849	Feb 12, 2016 (147)
84	WEILL_CORNELL_DGM	ss1937277059	Feb 12, 2016 (147)
85	ILLUMINA	ss1946506620	Feb 12, 2016 (147)
86	ILLUMINA	ss1959809930	Feb 12, 2016 (147)
87	GENOMED	ss1968542490	Jul 19, 2016 (147)
88	JJLAB	ss2029409075	Sep 14, 2016 (149)
89	USC_VALOUEV	ss2157916218	Dec 20, 2016 (150)
90	HUMAN_LONGEVITY	ss2222217146	Dec 20, 2016 (150)
91	SYSTEMSBIOZJU	ss2629202305	Nov 08, 2017 (151)
92	ILLUMINA	ss2633482663	Nov 08, 2017 (151)
93	GRF	ss2702507570	Nov 08, 2017 (151)
94	GNOMAD	ss2743319410	Nov 08, 2017 (151)
95	GNOMAD	ss2749965428	Nov 08, 2017 (151)
96	GNOMAD	ss2957559869	Nov 08, 2017 (151)
97	AFFY	ss2985119822	Nov 08, 2017 (151)
98	SWEGEN	ss3016652199	Nov 08, 2017 (151)
99	ILLUMINA	ss3021849710	Nov 08, 2017 (151)
100	EVA_SAMSUNG_MC	ss3023071269	Nov 08, 2017 (151)
101	BIOINF_KMB_FNS_UNIBA	ss3028534108	Nov 08, 2017 (151)
102	CSHL	ss3352059595	Nov 08, 2017 (151)
103	ILLUMINA	ss3627826898	Oct 12, 2018 (152)
104	ILLUMINA	ss3627826899	Oct 12, 2018 (152)
105	ILLUMINA	ss3627826900	Oct 12, 2018 (152)
106	ILLUMINA	ss3631458821	Oct 12, 2018 (152)
107	ILLUMINA	ss3633165286	Oct 12, 2018 (152)
108	ILLUMINA	ss3633874172	Oct 12, 2018 (152)
109	ILLUMINA	ss3634709384	Oct 12, 2018 (152)
110	ILLUMINA	ss3634709385	Oct 12, 2018 (152)
111	ILLUMINA	ss3635561400	Oct 12, 2018 (152)
112	ILLUMINA	ss3636398917	Oct 12, 2018 (152)
113	ILLUMINA	ss3637313022	Oct 12, 2018 (152)
114	ILLUMINA	ss3638200453	Oct 12, 2018 (152)
115	ILLUMINA	ss3639108468	Oct 12, 2018 (152)
116	ILLUMINA	ss3639563214	Oct 12, 2018 (152)
117	ILLUMINA	ss3640416692	Oct 12, 2018 (152)
118	ILLUMINA	ss3640416693	Oct 12, 2018 (152)
119	ILLUMINA	ss3644707560	Oct 12, 2018 (152)
120	OMUKHERJEE_ADBS	ss3646524114	Oct 12, 2018 (152)
121	URBANLAB	ss3650806722	Oct 12, 2018 (152)
122	ILLUMINA	ss3652272148	Oct 12, 2018 (152)
123	ILLUMINA	ss3653891946	Oct 12, 2018 (152)
124	EGCUT_WGS	ss3683498832	Jul 13, 2019 (153)
125	EVA_DECODE	ss3701812723	Jul 13, 2019 (153)
126	ILLUMINA	ss3725682605	Jul 13, 2019 (153)
127	ACPOP	ss3742611373	Jul 13, 2019 (153)
128	ILLUMINA	ss3744454735	Jul 13, 2019 (153)
129	ILLUMINA	ss3745009516	Jul 13, 2019 (153)
130	EVA	ss3755487498	Jul 13, 2019 (153)
131	PAGE_CC	ss3771976364	Jul 13, 2019 (153)
132	ILLUMINA	ss3772506977	Jul 13, 2019 (153)
133	KHV_HUMAN_GENOMES	ss3820742760	Jul 13, 2019 (153)
134	EVA	ss3825195743	Apr 27, 2020 (154)
135	EVA	ss3825532055	Apr 27, 2020 (154)
136	EVA	ss3825546675	Apr 27, 2020 (154)
137	EVA	ss3825916777	Apr 27, 2020 (154)
138	EVA	ss3835209086	Apr 27, 2020 (154)
139	EVA	ss3841222790	Apr 27, 2020 (154)
140	EVA	ss3846725322	Apr 27, 2020 (154)
141	HGDP	ss3847586149	Apr 27, 2020 (154)
142	SGDP_PRJ	ss3887178104	Apr 27, 2020 (154)
143	KRGDB	ss3937068134	Apr 27, 2020 (154)
144	FSA-LAB	ss3984133858	Apr 27, 2021 (155)
145	EVA	ss3984734059	Apr 27, 2021 (155)
146	EVA	ss3985831195	Apr 27, 2021 (155)
147	EVA	ss3986759925	Apr 27, 2021 (155)
148	EVA	ss4017802213	Apr 27, 2021 (155)
149	TOPMED	ss5059444164	Apr 27, 2021 (155)
150	TOMMO_GENOMICS	ss5225518384	Apr 27, 2021 (155)
151	EVA	ss5236951030	Apr 27, 2021 (155)
152	EVA	ss5237243229	Apr 27, 2021 (155)
153	1000G_HIGH_COVERAGE	ss5305561060	Oct 16, 2022 (156)
154	EVA	ss5315939078	Oct 16, 2022 (156)
155	EVA	ss5431918460	Oct 16, 2022 (156)
156	HUGCELL_USP	ss5498302832	Oct 16, 2022 (156)
157	EVA	ss5511968155	Oct 16, 2022 (156)
158	1000G_HIGH_COVERAGE	ss5610542015	Oct 16, 2022 (156)
159	EVA	ss5624080895	Oct 16, 2022 (156)
160	SANFORD_IMAGENETICS	ss5661447311	Oct 16, 2022 (156)
161	TOMMO_GENOMICS	ss5783410049	Oct 16, 2022 (156)
162	EVA	ss5799461143	Oct 16, 2022 (156)
163	EVA	ss5799995777	Oct 16, 2022 (156)
164	EVA	ss5800215368	Oct 16, 2022 (156)
165	YY_MCH	ss5817165757	Oct 16, 2022 (156)
166	EVA	ss5827651708	Oct 16, 2022 (156)
167	EVA	ss5847823999	Oct 16, 2022 (156)
168	EVA	ss5848469678	Oct 16, 2022 (156)
169	EVA	ss5852085850	Oct 16, 2022 (156)
170	EVA	ss5874396976	Oct 16, 2022 (156)
171	EVA	ss5952872674	Oct 16, 2022 (156)
172	EVA	ss5981011551	Oct 16, 2022 (156)
173	EVA	ss5981306627	Oct 16, 2022 (156)
174	1000Genomes	NC_000018.9 - 56204932	Oct 12, 2018 (152)
175	1000Genomes_30x	NC_000018.10 - 58537700	Oct 16, 2022 (156)
176	The Avon Longitudinal Study of Parents and Children	NC_000018.9 - 56204932	Oct 12, 2018 (152)
177	Chileans	NC_000018.9 - 56204932	Apr 27, 2020 (154)
178	Genome-wide autozygosity in Daghestan	NC_000018.8 - 54355912	Apr 27, 2020 (154)
179	Genetic variation in the Estonian population	NC_000018.9 - 56204932	Oct 12, 2018 (152)
180	ExAC	NC_000018.9 - 56204932	Oct 12, 2018 (152)
181	FINRISK	NC_000018.9 - 56204932	Apr 27, 2020 (154)
182	The Danish reference pan genome	NC_000018.9 - 56204932	Apr 27, 2020 (154)
183	gnomAD - Genomes	NC_000018.10 - 58537700	Apr 27, 2021 (155)
184	gnomAD - Exomes	NC_000018.9 - 56204932	Jul 13, 2019 (153)
185	GO Exome Sequencing Project	NC_000018.9 - 56204932	Oct 12, 2018 (152)
186	Genome of the Netherlands Release 5	NC_000018.9 - 56204932	Apr 27, 2020 (154)
187	HGDP-CEPH-db Supplement 1	NC_000018.8 - 54355912	Apr 27, 2020 (154)
188	HapMap	NC_000018.10 - 58537700	Apr 27, 2020 (154)
189	KOREAN population from KRGDB	NC_000018.9 - 56204932	Apr 27, 2020 (154)
190	Medical Genome Project healthy controls from Spanish population	NC_000018.9 - 56204932	Apr 27, 2020 (154)
191	Northern Sweden	NC_000018.9 - 56204932	Jul 13, 2019 (153)
192	The PAGE Study	NC_000018.10 - 58537700	Jul 13, 2019 (153)
193	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000018.9 - 56204932	Apr 27, 2021 (155)
194	CNV burdens in cranial meningiomas	NC_000018.9 - 56204932	Apr 27, 2021 (155)
195	Qatari	NC_000018.9 - 56204932	Apr 27, 2020 (154)
196	SGDP_PRJ	NC_000018.9 - 56204932	Apr 27, 2020 (154)
197	Siberian	NC_000018.9 - 56204932	Apr 27, 2020 (154)
198	8.3KJPN	NC_000018.9 - 56204932	Apr 27, 2021 (155)
199	14KJPN	NC_000018.10 - 58537700	Oct 16, 2022 (156)
200	TopMed	NC_000018.10 - 58537700	Apr 27, 2021 (155)
201	UK 10K study - Twins	NC_000018.9 - 56204932	Oct 12, 2018 (152)
202	A Vietnamese Genetic Variation Database	NC_000018.9 - 56204932	Jul 13, 2019 (153)
203	ALFA	NC_000018.10 - 58537700	Apr 27, 2021 (155)

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)
rs56693680	May 23, 2008 (130)
rs116845051	Aug 16, 2010 (132)
rs386586893	Aug 21, 2014 (142)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
217639, 264041, ss90810922, ss110633854, ss114472553, ss168329128, ss169967724, ss171855232, ss208170540, ss283019050, ss287296137, ss292083426, ss480845468, ss491750911, ss825499448, ss1397747971, ss1697871349, ss1713632085, ss3639108468, ss3639563214, ss3847586149	NC_000018.8:54355911:T:G	NC_000018.10:58537699:T:G	(self)
74674354, 41384677, 197058, 29237080, 3637530, 107800, 4627728, 12632586, 1652757, 18435333, 44245528, 603298, 15896238, 1057122, 283611, 19318981, 39195084, 10432572, 83487691, 41384677, 9143159, ss227901152, ss237497156, ss243739702, ss342475580, ss480862714, ss481797268, ss485217624, ss491140846, ss491533873, ss535596941, ss537198463, ss565689338, ss661524966, ss778525360, ss780736983, ss783054768, ss783413807, ss784013111, ss832312662, ss832960057, ss833981825, ss974502216, ss993809313, ss1067579507, ss1081560290, ss1361334305, ss1428242828, ss1578437095, ss1584111339, ss1637044691, ss1680038724, ss1693164622, ss1711487538, ss1752261404, ss1752261405, ss1809084945, ss1917927849, ss1937277059, ss1946506620, ss1959809930, ss1968542490, ss2029409075, ss2157916218, ss2629202305, ss2633482663, ss2702507570, ss2743319410, ss2749965428, ss2957559869, ss2985119822, ss3016652199, ss3021849710, ss3023071269, ss3352059595, ss3627826898, ss3627826899, ss3627826900, ss3631458821, ss3633165286, ss3633874172, ss3634709384, ss3634709385, ss3635561400, ss3636398917, ss3637313022, ss3638200453, ss3640416692, ss3640416693, ss3644707560, ss3646524114, ss3652272148, ss3653891946, ss3683498832, ss3742611373, ss3744454735, ss3745009516, ss3755487498, ss3772506977, ss3825195743, ss3825532055, ss3825546675, ss3825916777, ss3835209086, ss3841222790, ss3887178104, ss3937068134, ss3984133858, ss3984734059, ss3985831195, ss3986759925, ss4017802213, ss5225518384, ss5315939078, ss5431918460, ss5511968155, ss5624080895, ss5661447311, ss5799461143, ss5799995777, ss5800215368, ss5827651708, ss5847823999, ss5848469678, ss5952872674, ss5981011551, ss5981306627	NC_000018.9:56204931:T:G	NC_000018.10:58537699:T:G	(self)
98067950, 526775238, 1618314, 1197833, 117247153, 274989827, 5593634640, ss2222217146, ss3028534108, ss3650806722, ss3701812723, ss3725682605, ss3771976364, ss3820742760, ss3846725322, ss5059444164, ss5236951030, ss5237243229, ss5305561060, ss5498302832, ss5610542015, ss5783410049, ss5817165757, ss5852085850, ss5874396976	NC_000018.10:58537699:T:G	NC_000018.10:58537699:T:G	(self)
ss14404715	NT_025028.13:3995777:T:G	NC_000018.10:58537699:T:G	(self)
ss4996376, ss6834161, ss23563015, ss44137470, ss48533656, ss65727976, ss66274297, ss66649351, ss67305468, ss67710609, ss69216135, ss70784120, ss71360798, ss75517463, ss76419026, ss79168930, ss84193677, ss86240782, ss96515702, ss122232837, ss136393271, ss137410310, ss154271770, ss159448500, ss159737390, ss160645625, ss171673004, ss173522684, ss173649137	NT_025028.14:3995795:T:G	NC_000018.10:58537699:T:G	(self)

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

No publications for rs3809973

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
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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.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs3809973