Name: rs7214723
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.

rs7214723

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr17:3872554 (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>C
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.438790 (133043/303204, ALFA)
C=0.362926 (96063/264690, TOPMED)
C=0.449155 (112747/251020, GnomAD_exome) (+ 24 more)
C=0.355110 (49714/139996, GnomAD)
C=0.439472 (53242/121150, ExAC)
C=0.34711 (27259/78532, PAGE_STUDY)
T=0.49830 (14081/28258, 14KJPN)
T=0.49356 (8272/16760, 8.3KJPN)
C=0.35307 (4592/13006, GO-ESP)
C=0.3933 (2519/6404, 1000G_30x)
C=0.3954 (1980/5008, 1000G)
C=0.3897 (1746/4480, Estonian)
C=0.4388 (1691/3854, ALSPAC)
C=0.4471 (1658/3708, TWINSUK)
C=0.3884 (1138/2930, KOREAN)
C=0.3392 (639/1884, HapMap)
C=0.4034 (739/1832, Korea1K)
C=0.432 (431/998, GoNL)
C=0.331 (262/792, PRJEB37584)
C=0.407 (249/612, Vietnamese)
C=0.477 (286/600, NorthernSweden)
C=0.491 (262/534, MGP)
T=0.283 (102/360, SGDP_PRJ)
C=0.424 (128/302, FINRISK)
C=0.458 (99/216, Qatari)
T=0.27 (12/44, Siberian)
C=0.35 (14/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: CAMKK1 : Missense Variant
Publications: 6 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	319596	T=0.565817	C=0.434183
European	Sub	269850	T=0.553441	C=0.446559
African	Sub	16094	T=0.83453	C=0.16547
African Others	Sub	570	T=0.909	C=0.091
African American	Sub	15524	T=0.83181	C=0.16819
Asian	Sub	3888	T=0.5594	C=0.4406
East Asian	Sub	3100	T=0.5961	C=0.4039
Other Asian	Sub	788	T=0.415	C=0.585
Latin American 1	Sub	1386	T=0.6212	C=0.3788
Latin American 2	Sub	6624	T=0.4446	C=0.5554
South Asian	Sub	364	T=0.385	C=0.615
Other	Sub	21390	T=0.55797	C=0.44203

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	303204	T=0.561210	C=0.438790
Allele Frequency Aggregator	European	Sub	259734	T=0.553177	C=0.446823
Allele Frequency Aggregator	Other	Sub	19942	T=0.55391	C=0.44609
Allele Frequency Aggregator	African	Sub	11266	T=0.82682	C=0.17318
Allele Frequency Aggregator	Latin American 2	Sub	6624	T=0.4446	C=0.5554
Allele Frequency Aggregator	Asian	Sub	3888	T=0.5594	C=0.4406
Allele Frequency Aggregator	Latin American 1	Sub	1386	T=0.6212	C=0.3788
Allele Frequency Aggregator	South Asian	Sub	364	T=0.385	C=0.615
TopMed	Global	Study-wide	264690	T=0.637074	C=0.362926
gnomAD - Exomes	Global	Study-wide	251020	T=0.550845	C=0.449155
gnomAD - Exomes	European	Sub	135104	T=0.567259	C=0.432741
gnomAD - Exomes	Asian	Sub	48982	T=0.48959	C=0.51041
gnomAD - Exomes	American	Sub	34506	T=0.43317	C=0.56683
gnomAD - Exomes	African	Sub	16242	T=0.84946	C=0.15054
gnomAD - Exomes	Ashkenazi Jewish	Sub	10056	T=0.55449	C=0.44551
gnomAD - Exomes	Other	Sub	6130	T=0.5437	C=0.4563
gnomAD - Genomes	Global	Study-wide	139996	T=0.644890	C=0.355110
gnomAD - Genomes	European	Sub	75800	T=0.57047	C=0.42953
gnomAD - Genomes	African	Sub	41972	T=0.83534	C=0.16466
gnomAD - Genomes	American	Sub	13638	T=0.50000	C=0.50000
gnomAD - Genomes	Ashkenazi Jewish	Sub	3316	T=0.5452	C=0.4548
gnomAD - Genomes	East Asian	Sub	3118	T=0.6514	C=0.3486
gnomAD - Genomes	Other	Sub	2152	T=0.6138	C=0.3862
ExAC	Global	Study-wide	121150	T=0.560528	C=0.439472
ExAC	Europe	Sub	73190	T=0.57006	C=0.42994
ExAC	Asian	Sub	25132	T=0.47879	C=0.52121
ExAC	American	Sub	11530	T=0.42203	C=0.57797
ExAC	African	Sub	10394	T=0.84693	C=0.15307
ExAC	Other	Sub	904	T=0.534	C=0.466
The PAGE Study	Global	Study-wide	78532	T=0.65289	C=0.34711
The PAGE Study	AfricanAmerican	Sub	32444	T=0.82915	C=0.17085
The PAGE Study	Mexican	Sub	10794	T=0.44478	C=0.55522
The PAGE Study	Asian	Sub	8312	T=0.5427	C=0.4573
The PAGE Study	PuertoRican	Sub	7892	T=0.5786	C=0.4214
The PAGE Study	NativeHawaiian	Sub	4512	T=0.5142	C=0.4858
The PAGE Study	Cuban	Sub	4224	T=0.5902	C=0.4098
The PAGE Study	Dominican	Sub	3818	T=0.6915	C=0.3085
The PAGE Study	CentralAmerican	Sub	2448	T=0.4837	C=0.5163
The PAGE Study	SouthAmerican	Sub	1980	T=0.4354	C=0.5646
The PAGE Study	NativeAmerican	Sub	1256	T=0.5318	C=0.4682
The PAGE Study	SouthAsian	Sub	852	T=0.384	C=0.616
14KJPN	JAPANESE	Study-wide	28258	T=0.49830	C=0.50170
8.3KJPN	JAPANESE	Study-wide	16760	T=0.49356	C=0.50644
GO Exome Sequencing Project	Global	Study-wide	13006	T=0.64693	C=0.35307
GO Exome Sequencing Project	European American	Sub	8600	T=0.5540	C=0.4460
GO Exome Sequencing Project	African American	Sub	4406	T=0.8284	C=0.1716
1000Genomes_30x	Global	Study-wide	6404	T=0.6067	C=0.3933
1000Genomes_30x	African	Sub	1786	T=0.9026	C=0.0974
1000Genomes_30x	Europe	Sub	1266	T=0.5411	C=0.4589
1000Genomes_30x	South Asian	Sub	1202	T=0.3661	C=0.6339
1000Genomes_30x	East Asian	Sub	1170	T=0.6026	C=0.3974
1000Genomes_30x	American	Sub	980	T=0.452	C=0.548
1000Genomes	Global	Study-wide	5008	T=0.6046	C=0.3954
1000Genomes	African	Sub	1322	T=0.8956	C=0.1044
1000Genomes	East Asian	Sub	1008	T=0.5972	C=0.4028
1000Genomes	Europe	Sub	1006	T=0.5567	C=0.4433
1000Genomes	South Asian	Sub	978	T=0.372	C=0.628
1000Genomes	American	Sub	694	T=0.458	C=0.542
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.6103	C=0.3897
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.5612	C=0.4388
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.5529	C=0.4471
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.6116	C=0.3884
HapMap	Global	Study-wide	1884	T=0.6608	C=0.3392
HapMap	American	Sub	768	T=0.527	C=0.473
HapMap	African	Sub	692	T=0.892	C=0.108
HapMap	Asian	Sub	252	T=0.484	C=0.516
HapMap	Europe	Sub	172	T=0.587	C=0.413
Korean Genome Project	KOREAN	Study-wide	1832	T=0.5966	C=0.4034
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.568	C=0.432
CNV burdens in cranial meningiomas	Global	Study-wide	792	T=0.669	C=0.331
CNV burdens in cranial meningiomas	CRM	Sub	792	T=0.669	C=0.331
A Vietnamese Genetic Variation Database	Global	Study-wide	612	T=0.593	C=0.407
Northern Sweden	ACPOP	Study-wide	600	T=0.523	C=0.477
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	T=0.509	C=0.491
SGDP_PRJ	Global	Study-wide	360	T=0.283	C=0.717
FINRISK	Finnish from FINRISK project	Study-wide	302	T=0.576	C=0.424
Qatari	Global	Study-wide	216	T=0.542	C=0.458
Siberian	Global	Study-wide	44	T=0.27	C=0.73
The Danish reference pan genome	Danish	Study-wide	40	T=0.65	C=0.35

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 17	NC_000017.11:g.3872554T>C
GRCh37.p13 chr 17	NC_000017.10:g.3775848T>C

Gene: CAMKK1, calcium/calmodulin dependent protein kinase kinase 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
CAMKK1 transcript variant 1	NM_032294.3:c.1124A>G	E [GAG] > G [GGG]	Coding Sequence Variant
calcium/calmodulin-dependent protein kinase kinase 1 isoform a	NP_115670.1:p.Glu375Gly	E (Glu) > G (Gly)	Missense Variant
CAMKK1 transcript variant 2	NM_172206.2:c.1205A>G	E [GAG] > G [GGG]	Coding Sequence Variant
calcium/calmodulin-dependent protein kinase kinase 1 isoform c	NP_757343.2:p.Glu402Gly	E (Glu) > G (Gly)	Missense Variant
CAMKK1 transcript variant 3	NM_172207.3:c.1238A>G	E [GAG] > G [GGG]	Coding Sequence Variant
calcium/calmodulin-dependent protein kinase kinase 1 isoform b	NP_757344.2:p.Glu413Gly	E (Glu) > G (Gly)	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=	C
GRCh38.p14 chr 17	NC_000017.11:g.3872554=	NC_000017.11:g.3872554T>C
GRCh37.p13 chr 17	NC_000017.10:g.3775848=	NC_000017.10:g.3775848T>C
CAMKK1 transcript variant 1	NM_032294.3:c.1124=	NM_032294.3:c.1124A>G
CAMKK1 transcript variant 1	NM_032294.2:c.1124=	NM_032294.2:c.1124A>G
CAMKK1 transcript variant 3	NM_172207.3:c.1238=	NM_172207.3:c.1238A>G
CAMKK1 transcript variant 3	NM_172207.2:c.1238=	NM_172207.2:c.1238A>G
CAMKK1 transcript variant 2	NM_172206.2:c.1205=	NM_172206.2:c.1205A>G
CAMKK1 transcript variant 2	NM_172206.1:c.1205=	NM_172206.1:c.1205A>G
calcium/calmodulin-dependent protein kinase kinase 1 isoform a	NP_115670.1:p.Glu375=	NP_115670.1:p.Glu375Gly
calcium/calmodulin-dependent protein kinase kinase 1 isoform b	NP_757344.2:p.Glu413=	NP_757344.2:p.Glu413Gly
calcium/calmodulin-dependent protein kinase kinase 1 isoform c	NP_757343.2:p.Glu402=	NP_757343.2:p.Glu402Gly
calcium/calmodulin-dependent protein kinase kinase 1 isoform a	NP_757343.1:p.Glu375=	NP_757343.1:p.Glu375Gly

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#.

155 SubSNP, 27 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	BCM_SSAHASNP	ss10860124	Jul 11, 2003 (116)
2	CSHL-HAPMAP	ss17588010	Feb 27, 2004 (120)
3	SSAHASNP	ss21375403	Apr 05, 2004 (121)
4	PERLEGEN	ss24583452	Sep 20, 2004 (123)
5	ABI	ss40798955	Mar 13, 2006 (126)
6	CANCER-GENOME	ss48533608	Mar 13, 2006 (126)
7	PERLEGEN	ss69189580	May 16, 2007 (127)
8	ILLUMINA	ss74896422	Dec 07, 2007 (129)
9	HGSV	ss81714291	Dec 15, 2007 (130)
10	BCMHGSC_JDW	ss90513536	Mar 24, 2008 (129)
11	HUMANGENOME_JCVI	ss96575524	Feb 05, 2009 (130)
12	BGI	ss103326769	Dec 01, 2009 (131)
13	1000GENOMES	ss109602073	Jan 24, 2009 (130)
14	1000GENOMES	ss113218272	Jan 25, 2009 (130)
15	ENSEMBL	ss132605685	Dec 01, 2009 (131)
16	ENSEMBL	ss136907125	Dec 01, 2009 (131)
17	GMI	ss157775652	Dec 01, 2009 (131)
18	SEATTLESEQ	ss159734141	Dec 01, 2009 (131)
19	ILLUMINA	ss160861182	Dec 01, 2009 (131)
20	COMPLETE_GENOMICS	ss168922785	Jul 04, 2010 (132)
21	ILLUMINA	ss174293744	Jul 04, 2010 (132)
22	BUSHMAN	ss202144137	Jul 04, 2010 (132)
23	BCM-HGSC-SUB	ss207941308	Jul 04, 2010 (132)
24	1000GENOMES	ss237162336	Jul 15, 2010 (132)
25	1000GENOMES	ss243476540	Jul 15, 2010 (132)
26	BL	ss255446854	May 09, 2011 (134)
27	GMI	ss282670674	May 04, 2012 (137)
28	PJP	ss291961414	May 09, 2011 (134)
29	NHLBI-ESP	ss342440217	May 09, 2011 (134)
30	ILLUMINA	ss481508867	May 04, 2012 (137)
31	ILLUMINA	ss481537456	May 04, 2012 (137)
32	ILLUMINA	ss482512931	Sep 08, 2015 (146)
33	ILLUMINA	ss485549480	May 04, 2012 (137)
34	1000GENOMES	ss491112735	May 04, 2012 (137)
35	EXOME_CHIP	ss491514946	May 04, 2012 (137)
36	CLINSEQ_SNP	ss491727046	May 04, 2012 (137)
37	ILLUMINA	ss537451443	Sep 08, 2015 (146)
38	TISHKOFF	ss565133129	Apr 25, 2013 (138)
39	SSMP	ss660919588	Apr 25, 2013 (138)
40	ILLUMINA	ss778597018	Sep 08, 2015 (146)
41	ILLUMINA	ss780723325	Sep 08, 2015 (146)
42	ILLUMINA	ss783220303	Sep 08, 2015 (146)
43	ILLUMINA	ss783399216	Sep 08, 2015 (146)
44	ILLUMINA	ss784174769	Sep 08, 2015 (146)
45	ILLUMINA	ss832480528	Sep 08, 2015 (146)
46	ILLUMINA	ss834054273	Sep 08, 2015 (146)
47	JMKIDD_LAB	ss974496888	Aug 21, 2014 (142)
48	EVA-GONL	ss992867408	Aug 21, 2014 (142)
49	JMKIDD_LAB	ss1067566316	Aug 21, 2014 (142)
50	JMKIDD_LAB	ss1080892611	Aug 21, 2014 (142)
51	1000GENOMES	ss1357695168	Aug 21, 2014 (142)
52	DDI	ss1427959985	Apr 01, 2015 (144)
53	EVA_GENOME_DK	ss1578065748	Apr 01, 2015 (144)
54	EVA_FINRISK	ss1584102965	Apr 01, 2015 (144)
55	EVA_UK10K_ALSPAC	ss1635179200	Apr 01, 2015 (144)
56	EVA_UK10K_TWINSUK	ss1678173233	Apr 01, 2015 (144)
57	EVA_EXAC	ss1692524440	Apr 01, 2015 (144)
58	EVA_DECODE	ss1696907548	Apr 01, 2015 (144)
59	EVA_MGP	ss1711443904	Apr 01, 2015 (144)
60	EVA_SVP	ss1713565909	Apr 01, 2015 (144)
61	ILLUMINA	ss1752224017	Sep 08, 2015 (146)
62	ILLUMINA	ss1752224018	Sep 08, 2015 (146)
63	HAMMER_LAB	ss1808678146	Sep 08, 2015 (146)
64	ILLUMINA	ss1917912846	Feb 12, 2016 (147)
65	WEILL_CORNELL_DGM	ss1936312949	Feb 12, 2016 (147)
66	ILLUMINA	ss1946425638	Feb 12, 2016 (147)
67	ILLUMINA	ss1959716161	Feb 12, 2016 (147)
68	GENOMED	ss1968340133	Jul 19, 2016 (147)
69	JJLAB	ss2028944747	Sep 14, 2016 (149)
70	USC_VALOUEV	ss2157389886	Dec 20, 2016 (150)
71	HUMAN_LONGEVITY	ss2215082553	Dec 20, 2016 (150)
72	SYSTEMSBIOZJU	ss2628963390	Nov 08, 2017 (151)
73	ILLUMINA	ss2633367848	Nov 08, 2017 (151)
74	GRF	ss2701931109	Nov 08, 2017 (151)
75	GNOMAD	ss2742327507	Nov 08, 2017 (151)
76	GNOMAD	ss2749654381	Nov 08, 2017 (151)
77	GNOMAD	ss2947100160	Nov 08, 2017 (151)
78	AFFY	ss2985082381	Nov 08, 2017 (151)
79	SWEGEN	ss3015105548	Nov 08, 2017 (151)
80	ILLUMINA	ss3021747107	Nov 08, 2017 (151)
81	BIOINF_KMB_FNS_UNIBA	ss3028290545	Nov 08, 2017 (151)
82	CSHL	ss3351626624	Nov 08, 2017 (151)
83	ILLUMINA	ss3627611176	Oct 12, 2018 (152)
84	ILLUMINA	ss3627611177	Oct 12, 2018 (152)
85	ILLUMINA	ss3631350800	Oct 12, 2018 (152)
86	ILLUMINA	ss3633133241	Oct 12, 2018 (152)
87	ILLUMINA	ss3633840216	Oct 12, 2018 (152)
88	ILLUMINA	ss3634660749	Oct 12, 2018 (152)
89	ILLUMINA	ss3634660750	Oct 12, 2018 (152)
90	ILLUMINA	ss3635528209	Oct 12, 2018 (152)
91	ILLUMINA	ss3636351859	Oct 12, 2018 (152)
92	ILLUMINA	ss3637279709	Oct 12, 2018 (152)
93	ILLUMINA	ss3638145950	Oct 12, 2018 (152)
94	ILLUMINA	ss3640368068	Oct 12, 2018 (152)
95	ILLUMINA	ss3640368069	Oct 12, 2018 (152)
96	ILLUMINA	ss3643125596	Oct 12, 2018 (152)
97	ILLUMINA	ss3644678714	Oct 12, 2018 (152)
98	OMUKHERJEE_ADBS	ss3646501931	Oct 12, 2018 (152)
99	URBANLAB	ss3650591001	Oct 12, 2018 (152)
100	ILLUMINA	ss3652159707	Oct 12, 2018 (152)
101	ILLUMINA	ss3653854546	Oct 12, 2018 (152)
102	EGCUT_WGS	ss3682073199	Jul 13, 2019 (153)
103	EVA_DECODE	ss3699976321	Jul 13, 2019 (153)
104	ILLUMINA	ss3725595546	Jul 13, 2019 (153)
105	ACPOP	ss3741824491	Jul 13, 2019 (153)
106	ILLUMINA	ss3744437809	Jul 13, 2019 (153)
107	ILLUMINA	ss3744961102	Jul 13, 2019 (153)
108	ILLUMINA	ss3744961103	Jul 13, 2019 (153)
109	EVA	ss3754384706	Jul 13, 2019 (153)
110	PAGE_CC	ss3771906998	Jul 13, 2019 (153)
111	ILLUMINA	ss3772459187	Jul 13, 2019 (153)
112	ILLUMINA	ss3772459188	Jul 13, 2019 (153)
113	PACBIO	ss3788134047	Jul 13, 2019 (153)
114	PACBIO	ss3793104553	Jul 13, 2019 (153)
115	PACBIO	ss3797990140	Jul 13, 2019 (153)
116	KHV_HUMAN_GENOMES	ss3819654255	Jul 13, 2019 (153)
117	EVA	ss3825061985	Apr 27, 2020 (154)
118	EVA	ss3825889285	Apr 27, 2020 (154)
119	EVA	ss3834750320	Apr 27, 2020 (154)
120	EVA	ss3840983393	Apr 27, 2020 (154)
121	EVA	ss3846477555	Apr 27, 2020 (154)
122	SGDP_PRJ	ss3885224823	Apr 27, 2020 (154)
123	KRGDB	ss3934807039	Apr 27, 2020 (154)
124	KOGIC	ss3978286466	Apr 27, 2020 (154)
125	FSA-LAB	ss3984104526	Apr 27, 2021 (155)
126	EVA	ss3984718939	Apr 27, 2021 (155)
127	EVA	ss3986707268	Apr 27, 2021 (155)
128	EVA	ss4017753788	Apr 27, 2021 (155)
129	TOPMED	ss5027686724	Apr 27, 2021 (155)
130	TOMMO_GENOMICS	ss5221245971	Apr 27, 2021 (155)
131	EVA	ss5236938289	Apr 27, 2021 (155)
132	EVA	ss5237236860	Apr 27, 2021 (155)
133	EVA	ss5237667707	Oct 16, 2022 (156)
134	1000G_HIGH_COVERAGE	ss5302236579	Oct 16, 2022 (156)
135	EVA	ss5315868911	Oct 16, 2022 (156)
136	EVA	ss5426049898	Oct 16, 2022 (156)
137	HUGCELL_USP	ss5495432054	Oct 16, 2022 (156)
138	1000G_HIGH_COVERAGE	ss5605507158	Oct 16, 2022 (156)
139	EVA	ss5623969380	Oct 16, 2022 (156)
140	EVA	ss5624067354	Oct 16, 2022 (156)
141	SANFORD_IMAGENETICS	ss5659617185	Oct 16, 2022 (156)
142	TOMMO_GENOMICS	ss5776764489	Oct 16, 2022 (156)
143	EVA	ss5799457553	Oct 16, 2022 (156)
144	EVA	ss5799968731	Oct 16, 2022 (156)
145	EVA	ss5800204969	Oct 16, 2022 (156)
146	YY_MCH	ss5816288359	Oct 16, 2022 (156)
147	EVA	ss5833645892	Oct 16, 2022 (156)
148	EVA	ss5847785654	Oct 16, 2022 (156)
149	EVA	ss5848437520	Oct 16, 2022 (156)
150	EVA	ss5851715785	Oct 16, 2022 (156)
151	EVA	ss5913015780	Oct 16, 2022 (156)
152	EVA	ss5936565760	Oct 16, 2022 (156)
153	EVA	ss5951025692	Oct 16, 2022 (156)
154	EVA	ss5980947037	Oct 16, 2022 (156)
155	EVA	ss5981298285	Oct 16, 2022 (156)
156	1000Genomes	NC_000017.10 - 3775848	Oct 12, 2018 (152)
157	1000Genomes_30x	NC_000017.11 - 3872554	Oct 16, 2022 (156)
158	The Avon Longitudinal Study of Parents and Children	NC_000017.10 - 3775848	Oct 12, 2018 (152)
159	Genetic variation in the Estonian population	NC_000017.10 - 3775848	Oct 12, 2018 (152)
160	ExAC	NC_000017.10 - 3775848	Oct 12, 2018 (152)
161	FINRISK	NC_000017.10 - 3775848	Apr 27, 2020 (154)
162	The Danish reference pan genome	NC_000017.10 - 3775848	Apr 27, 2020 (154)
163	gnomAD - Genomes	NC_000017.11 - 3872554	Apr 27, 2021 (155)
164	gnomAD - Exomes	NC_000017.10 - 3775848	Jul 13, 2019 (153)
165	GO Exome Sequencing Project	NC_000017.10 - 3775848	Oct 12, 2018 (152)
166	Genome of the Netherlands Release 5	NC_000017.10 - 3775848	Apr 27, 2020 (154)
167	HapMap	NC_000017.11 - 3872554	Apr 27, 2020 (154)
168	KOREAN population from KRGDB	NC_000017.10 - 3775848	Apr 27, 2020 (154)
169	Korean Genome Project	NC_000017.11 - 3872554	Apr 27, 2020 (154)
170	Medical Genome Project healthy controls from Spanish population	NC_000017.10 - 3775848	Apr 27, 2020 (154)
171	Northern Sweden	NC_000017.10 - 3775848	Jul 13, 2019 (153)
172	The PAGE Study	NC_000017.11 - 3872554	Jul 13, 2019 (153)
173	CNV burdens in cranial meningiomas	NC_000017.10 - 3775848	Apr 27, 2021 (155)
174	Qatari	NC_000017.10 - 3775848	Apr 27, 2020 (154)
175	SGDP_PRJ	NC_000017.10 - 3775848	Apr 27, 2020 (154)
176	Siberian	NC_000017.10 - 3775848	Apr 27, 2020 (154)
177	8.3KJPN	NC_000017.10 - 3775848	Apr 27, 2021 (155)
178	14KJPN	NC_000017.11 - 3872554	Oct 16, 2022 (156)
179	TopMed	NC_000017.11 - 3872554	Apr 27, 2021 (155)
180	UK 10K study - Twins	NC_000017.10 - 3775848	Oct 12, 2018 (152)
181	A Vietnamese Genetic Variation Database	NC_000017.10 - 3775848	Jul 13, 2019 (153)
182	ALFA	NC_000017.11 - 3872554	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)
rs17709051	Oct 08, 2004 (123)
rs59070130	May 25, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss81714291, ss90513536, ss109602073, ss113218272, ss168922785, ss202144137, ss207941308, ss255446854, ss282670674, ss291961414, ss481508867, ss491727046, ss1696907548, ss1713565909, ss3643125596	NC_000017.9:3722596:T:C	NC_000017.11:3872553:T:C	(self)
70901233, 39322597, 27811447, 2947759, 99426, 4271746, 11622153, 1519116, 17531152, 41984433, 559664, 15109356, 268479, 18354871, 37241803, 9906240, 79215278, 39322597, 8711956, ss237162336, ss243476540, ss342440217, ss481537456, ss482512931, ss485549480, ss491112735, ss491514946, ss537451443, ss565133129, ss660919588, ss778597018, ss780723325, ss783220303, ss783399216, ss784174769, ss832480528, ss834054273, ss974496888, ss992867408, ss1067566316, ss1080892611, ss1357695168, ss1427959985, ss1578065748, ss1584102965, ss1635179200, ss1678173233, ss1692524440, ss1711443904, ss1752224017, ss1752224018, ss1808678146, ss1917912846, ss1936312949, ss1946425638, ss1959716161, ss1968340133, ss2028944747, ss2157389886, ss2628963390, ss2633367848, ss2701931109, ss2742327507, ss2749654381, ss2947100160, ss2985082381, ss3015105548, ss3021747107, ss3351626624, ss3627611176, ss3627611177, ss3631350800, ss3633133241, ss3633840216, ss3634660749, ss3634660750, ss3635528209, ss3636351859, ss3637279709, ss3638145950, ss3640368068, ss3640368069, ss3644678714, ss3646501931, ss3652159707, ss3653854546, ss3682073199, ss3741824491, ss3744437809, ss3744961102, ss3744961103, ss3754384706, ss3772459187, ss3772459188, ss3788134047, ss3793104553, ss3797990140, ss3825061985, ss3825889285, ss3834750320, ss3840983393, ss3885224823, ss3934807039, ss3984104526, ss3984718939, ss3986707268, ss4017753788, ss5221245971, ss5315868911, ss5426049898, ss5623969380, ss5624067354, ss5659617185, ss5799457553, ss5799968731, ss5800204969, ss5833645892, ss5847785654, ss5848437520, ss5936565760, ss5951025692, ss5980947037, ss5981298285	NC_000017.10:3775847:T:C	NC_000017.11:3872553:T:C	(self)
93033093, 499971398, 1448188, 34664467, 1128467, 110601593, 243232386, 10310722313, ss2215082553, ss3028290545, ss3650591001, ss3699976321, ss3725595546, ss3771906998, ss3819654255, ss3846477555, ss3978286466, ss5027686724, ss5236938289, ss5237236860, ss5237667707, ss5302236579, ss5495432054, ss5605507158, ss5776764489, ss5816288359, ss5851715785, ss5913015780	NC_000017.11:3872553:T:C	NC_000017.11:3872553:T:C	(self)
ss10860124	NT_010718.13:2622737:T:C	NC_000017.11:3872553:T:C	(self)
ss17588010, ss21375403	NT_010718.14:2622877:T:C	NC_000017.11:3872553:T:C	(self)
ss24583452, ss40798955, ss48533608, ss69189580, ss74896422, ss96575524, ss103326769, ss132605685, ss136907125, ss157775652, ss159734141, ss160861182, ss174293744	NT_010718.16:3379221:T:C	NC_000017.11:3872553:T:C	(self)

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

6 citations for rs7214723

PMID	Title	Author	Year	Journal
16741161	Variants in the GH-IGF axis confer susceptibility to lung cancer.	Rudd MF et al.	2006	Genome research
20106900	International Lung Cancer Consortium: coordinated association study of 10 potential lung cancer susceptibility variants.	Truong T et al.	2010	Carcinogenesis
23737288	Polymorphism rs7214723 in CAMKK1 and lung cancer risk in Chinese population.	Zhang YH et al.	2013	Tumour biology
28739589	Association of calcium/calmodulin-dependent protein kinase kinase1 rs7214723 polymorphism with lung cancer risk in a Chinese population.	Chen D et al.	2017	Bioscience reports
34868969	Associations Between CAMKK1 Polymorphism rs7214723 and the Prognosis of Patients With Lung Cancer.	Zhang H et al.	2021	Frontiers in oncology
35499292	Prediction of lung cancer risk in Chinese population with genetic-environment factor using extreme gradient boosting.	Li Y et al.	2022	Cancer medicine

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

rs7214723