Name: rs5051
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.

rs5051

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:230714126 (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=0.389875 (103196/264690, TOPMED)
T=0.446618 (62907/140852, ALFA)
C=0.417986 (58462/139866, GnomAD) (+ 19 more)
C=0.24978 (19657/78698, PAGE_STUDY)
C=0.18262 (5160/28256, 14KJPN)
C=0.18437 (3090/16760, 8.3KJPN)
C=0.2865 (1835/6404, 1000G_30x)
C=0.2895 (1450/5008, 1000G)
T=0.4770 (2137/4480, Estonian)
T=0.3957 (1525/3854, ALSPAC)
T=0.4126 (1530/3708, TWINSUK)
C=0.2003 (587/2930, KOREAN)
C=0.2659 (503/1892, HapMap)
C=0.1758 (322/1832, Korea1K)
T=0.398 (397/998, GoNL)
C=0.208 (163/784, PRJEB37584)
T=0.385 (231/600, NorthernSweden)
C=0.202 (96/476, SGDP_PRJ)
C=0.407 (88/216, Qatari)
C=0.351 (66/188, PharmGKB)
C=0.35 (16/46, Siberian)
T=0.30 (12/40, GENOME_DK)

Clinical Significance: Reported in ClinVar
Gene : Consequence: AGT : Intron Variant
Publications: 32 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: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele	Ref HMOZ	Alt HMOZ	HTRZ	HWEP
Total	Global	140852	C=0.553382	G=0.000000, T=0.446618	0.320776	0.214012	0.465212	32
European	Sub	123518	C=0.583542	G=0.000000, T=0.416458	0.345634	0.178549	0.475817	15
African	Sub	4346	C=0.1700	G=0.0000, T=0.8300	0.044179	0.704096	0.251726	14
African Others	Sub	134	C=0.082	G=0.000, T=0.918	0.0	0.835821	0.164179	0
African American	Sub	4212	C=0.1728	G=0.0000, T=0.8272	0.045584	0.699905	0.254511	14
Asian	Sub	554	C=0.161	G=0.000, T=0.839	0.028881	0.707581	0.263538	0
East Asian	Sub	446	C=0.157	G=0.000, T=0.843	0.03139	0.717489	0.251121	0
Other Asian	Sub	108	C=0.176	G=0.000, T=0.824	0.018519	0.666667	0.314815	0
Latin American 1	Sub	620	C=0.434	G=0.000, T=0.566	0.193548	0.325806	0.480645	0
Latin American 2	Sub	5758	C=0.3090	G=0.0000, T=0.6910	0.104203	0.48628	0.409517	3
South Asian	Sub	112	C=0.491	G=0.000, T=0.509	0.267857	0.285714	0.446429	0
Other	Sub	5944	C=0.4939	G=0.0000, T=0.5061	0.257739	0.269852	0.472409	5

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
TopMed	Global	Study-wide	264690	C=0.389875	T=0.610125
Allele Frequency Aggregator	Total	Global	140852	C=0.553382	G=0.000000, T=0.446618
Allele Frequency Aggregator	European	Sub	123518	C=0.583542	G=0.000000, T=0.416458
Allele Frequency Aggregator	Other	Sub	5944	C=0.4939	G=0.0000, T=0.5061
Allele Frequency Aggregator	Latin American 2	Sub	5758	C=0.3090	G=0.0000, T=0.6910
Allele Frequency Aggregator	African	Sub	4346	C=0.1700	G=0.0000, T=0.8300
Allele Frequency Aggregator	Latin American 1	Sub	620	C=0.434	G=0.000, T=0.566
Allele Frequency Aggregator	Asian	Sub	554	C=0.161	G=0.000, T=0.839
Allele Frequency Aggregator	South Asian	Sub	112	C=0.491	G=0.000, T=0.509
gnomAD - Genomes	Global	Study-wide	139866	C=0.417986	T=0.582014
gnomAD - Genomes	European	Sub	75706	C=0.57538	T=0.42462
gnomAD - Genomes	African	Sub	41938	C=0.16033	T=0.83967
gnomAD - Genomes	American	Sub	13628	C=0.36109	T=0.63891
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	C=0.5560	T=0.4440
gnomAD - Genomes	East Asian	Sub	3130	C=0.1655	T=0.8345
gnomAD - Genomes	Other	Sub	2144	C=0.4165	T=0.5835
The PAGE Study	Global	Study-wide	78698	C=0.24978	T=0.75022
The PAGE Study	AfricanAmerican	Sub	32512	C=0.16628	T=0.83372
The PAGE Study	Mexican	Sub	10810	C=0.29796	T=0.70204
The PAGE Study	Asian	Sub	8318	C=0.1881	T=0.8119
The PAGE Study	PuertoRican	Sub	7918	C=0.3570	T=0.6430
The PAGE Study	NativeHawaiian	Sub	4534	C=0.2331	T=0.7669
The PAGE Study	Cuban	Sub	4230	C=0.4790	T=0.5210
The PAGE Study	Dominican	Sub	3828	C=0.3328	T=0.6672
The PAGE Study	CentralAmerican	Sub	2450	C=0.3057	T=0.6943
The PAGE Study	SouthAmerican	Sub	1982	C=0.3340	T=0.6660
The PAGE Study	NativeAmerican	Sub	1260	C=0.4373	T=0.5627
The PAGE Study	SouthAsian	Sub	856	C=0.373	T=0.627
14KJPN	JAPANESE	Study-wide	28256	C=0.18262	T=0.81738
8.3KJPN	JAPANESE	Study-wide	16760	C=0.18437	T=0.81563
1000Genomes_30x	Global	Study-wide	6404	C=0.2865	T=0.7135
1000Genomes_30x	African	Sub	1786	C=0.0817	T=0.9183
1000Genomes_30x	Europe	Sub	1266	C=0.5885	T=0.4115
1000Genomes_30x	South Asian	Sub	1202	C=0.3644	T=0.6356
1000Genomes_30x	East Asian	Sub	1170	C=0.1462	T=0.8538
1000Genomes_30x	American	Sub	980	C=0.342	T=0.658
1000Genomes	Global	Study-wide	5008	C=0.2895	T=0.7105
1000Genomes	African	Sub	1322	C=0.0840	T=0.9160
1000Genomes	East Asian	Sub	1008	C=0.1488	T=0.8512
1000Genomes	Europe	Sub	1006	C=0.5875	T=0.4125
1000Genomes	South Asian	Sub	978	C=0.360	T=0.640
1000Genomes	American	Sub	694	C=0.354	T=0.646
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.5230	T=0.4770
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.6043	T=0.3957
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.5874	T=0.4126
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.2003	A=0.0000, G=0.0000, T=0.7997
HapMap	Global	Study-wide	1892	C=0.2659	T=0.7341
HapMap	American	Sub	770	C=0.384	T=0.616
HapMap	African	Sub	692	C=0.100	T=0.900
HapMap	Asian	Sub	254	C=0.157	T=0.843
HapMap	Europe	Sub	176	C=0.557	T=0.443
Korean Genome Project	KOREAN	Study-wide	1832	C=0.1758	T=0.8242
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.602	T=0.398
CNV burdens in cranial meningiomas	Global	Study-wide	784	C=0.208	T=0.792
CNV burdens in cranial meningiomas	CRM	Sub	784	C=0.208	T=0.792
Northern Sweden	ACPOP	Study-wide	600	C=0.615	T=0.385
SGDP_PRJ	Global	Study-wide	476	C=0.202	T=0.798
Qatari	Global	Study-wide	216	C=0.407	T=0.593
PharmGKB Aggregated	Global	Study-wide	188	C=0.351	T=0.649
PharmGKB Aggregated	PA151490457	Sub	94	C=0.35	T=0.65
PharmGKB Aggregated	PA151491066	Sub	94	C=0.35	T=0.65
Siberian	Global	Study-wide	46	C=0.35	T=0.65
The Danish reference pan genome	Danish	Study-wide	40	C=0.70	T=0.30

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 1	NC_000001.11:g.230714126C>A
GRCh38.p14 chr 1	NC_000001.11:g.230714126C>G
GRCh38.p14 chr 1	NC_000001.11:g.230714126C>T
GRCh37.p13 chr 1	NC_000001.10:g.230849872C>A
GRCh37.p13 chr 1	NC_000001.10:g.230849872C>G
GRCh37.p13 chr 1	NC_000001.10:g.230849872C>T
AGT RefSeqGene	NG_008836.2:g.5465G>T
AGT RefSeqGene	NG_008836.2:g.5465G>C
AGT RefSeqGene	NG_008836.2:g.5465G>A

Gene: AGT, angiotensinogen (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
AGT transcript variant 2	NM_001382817.3:c.-30-3273… NM_001382817.3:c.-30-3273G>T	N/A	Intron Variant
AGT transcript variant 1	NM_001384479.1:c.	N/A	Genic Upstream Transcript 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.

Allele: T (allele ID: 281157 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000262949.5	Renal tubular dysgenesis	Benign
RCV000835696.3	not provided	Benign
RCV002221221.3	Hypertension, essential, susceptibility to	Risk-Factor
RCV002221222.3	Crohn disease, association with	Pathogenic

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 1	NC_000001.11:g.230714126=	NC_000001.11:g.230714126C>A	NC_000001.11:g.230714126C>G	NC_000001.11:g.230714126C>T
GRCh37.p13 chr 1	NC_000001.10:g.230849872=	NC_000001.10:g.230849872C>A	NC_000001.10:g.230849872C>G	NC_000001.10:g.230849872C>T
AGT RefSeqGene	NG_008836.2:g.5465=	NG_008836.2:g.5465G>T	NG_008836.2:g.5465G>C	NG_008836.2:g.5465G>A
AGT transcript	NM_000029.3:c.-44=	NM_000029.3:c.-44G>T	NM_000029.3:c.-44G>C	NM_000029.3:c.-44G>A
AGT transcript variant 2	NM_001382817.3:c.-30-3273=	NM_001382817.3:c.-30-3273G>T	NM_001382817.3:c.-30-3273G>C	NM_001382817.3:c.-30-3273G>A

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#.

131 SubSNP, 22 Frequency, 4 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	ARAVINDA	ss6495	Sep 19, 2000 (52)
2	TSC-CSHL	ss1471227	Oct 04, 2000 (86)
3	SC_JCM	ss3498219	Sep 28, 2001 (100)
4	YUSUKE	ss4976051	Aug 28, 2002 (108)
5	WI_SSAHASNP	ss11397726	Jul 11, 2003 (116)
6	PARC	ss16338934	Feb 27, 2004 (120)
7	CSHL-HAPMAP	ss16418328	Feb 27, 2004 (120)
8	SSAHASNP	ss20566154	Apr 05, 2004 (121)
9	IMCJ-GDT	ss22886624	Apr 05, 2004 (121)
10	SEQUENOM	ss24806983	Sep 21, 2004 (123)
11	KYUGEN	ss28460766	Sep 20, 2004 (123)
12	ABI	ss43816751	Mar 13, 2006 (126)
13	STEJUSTINE-REGGEN	ss51853112	Mar 16, 2006 (126)
14	ILLUMINA	ss75124512	Dec 07, 2007 (129)
15	CGM_KYOTO	ss76867055	Dec 07, 2007 (129)
16	PHARMGKB_PARC	ss84151202	Dec 15, 2007 (130)
17	PHARMGKB_PARC	ss84151221	Dec 15, 2007 (130)
18	HGSV	ss84297747	Dec 15, 2007 (130)
19	HGSV	ss85127755	Dec 15, 2007 (130)
20	HGSV	ss86137296	Dec 15, 2007 (130)
21	RSG_UW	ss86211282	Mar 23, 2008 (129)
22	RSG_JCVI	ss86215611	Mar 23, 2008 (129)
23	BGI	ss102830773	Dec 01, 2009 (131)
24	1000GENOMES	ss109021237	Jan 23, 2009 (130)
25	1000GENOMES	ss111914271	Jan 25, 2009 (130)
26	ILLUMINA-UK	ss119241050	Feb 15, 2009 (130)
27	KRIBB_YJKIM	ss119337518	Dec 01, 2009 (131)
28	ILLUMINA	ss160737663	Dec 01, 2009 (131)
29	ENSEMBL	ss161227514	Dec 01, 2009 (131)
30	COMPLETE_GENOMICS	ss165369094	Jul 04, 2010 (132)
31	COMPLETE_GENOMICS	ss167558920	Jul 04, 2010 (132)
32	ILLUMINA	ss173908246	Jul 04, 2010 (132)
33	BUSHMAN	ss199729377	Jul 04, 2010 (132)
34	ILLUMINA	ss244302764	Jul 04, 2010 (132)
35	BL	ss253884131	May 09, 2011 (134)
36	GMI	ss276256145	May 04, 2012 (137)
37	PJP	ss290753216	May 09, 2011 (134)
38	1000GENOMES	ss454729631	Sep 17, 2011 (135)
39	PAGE_STUDY	ss469996493	May 04, 2012 (137)
40	ILLUMINA	ss481131082	May 04, 2012 (137)
41	ILLUMINA	ss481153107	May 04, 2012 (137)
42	ILLUMINA	ss482142643	Sep 08, 2015 (146)
43	ILLUMINA	ss485360564	May 04, 2012 (137)
44	ILLUMINA	ss537304992	Sep 08, 2015 (146)
45	TISHKOFF	ss555199776	Apr 25, 2013 (138)
46	SSMP	ss648772961	Apr 25, 2013 (138)
47	ILLUMINA	ss778707188	Sep 08, 2015 (146)
48	ILLUMINA	ss783125969	Sep 08, 2015 (146)
49	ILLUMINA	ss784082581	Sep 08, 2015 (146)
50	ILLUMINA	ss832384810	Sep 08, 2015 (146)
51	ILLUMINA	ss834166278	Sep 08, 2015 (146)
52	EVA-GONL	ss976246045	Aug 21, 2014 (142)
53	JMKIDD_LAB	ss1068678342	Aug 21, 2014 (142)
54	1000GENOMES	ss1295035070	Aug 21, 2014 (142)
55	DDI	ss1426140710	Apr 01, 2015 (144)
56	EVA_GENOME_DK	ss1574742379	Apr 01, 2015 (144)
57	EVA_DECODE	ss1585645968	Apr 01, 2015 (144)
58	EVA_UK10K_ALSPAC	ss1602344839	Apr 01, 2015 (144)
59	EVA_UK10K_TWINSUK	ss1645338872	Apr 01, 2015 (144)
60	EVA_SVP	ss1712412884	Apr 01, 2015 (144)
61	ILLUMINA	ss1751904349	Sep 08, 2015 (146)
62	HAMMER_LAB	ss1795862201	Sep 08, 2015 (146)
63	WEILL_CORNELL_DGM	ss1919467715	Feb 12, 2016 (147)
64	ILLUMINA	ss1958366186	Feb 12, 2016 (147)
65	GENOMED	ss1966996830	Jul 19, 2016 (147)
66	JJLAB	ss2020259095	Sep 14, 2016 (149)
67	USC_VALOUEV	ss2148294839	Dec 20, 2016 (150)
68	HUMAN_LONGEVITY	ss2170880770	Dec 20, 2016 (150)
69	SYSTEMSBIOZJU	ss2624641497	Nov 08, 2017 (151)
70	ILLUMINA	ss2632641563	Nov 08, 2017 (151)
71	GRF	ss2698294675	Nov 08, 2017 (151)
72	GNOMAD	ss2767311933	Nov 08, 2017 (151)
73	SWEGEN	ss2988609611	Nov 08, 2017 (151)
74	ILLUMINA	ss3021190176	Nov 08, 2017 (151)
75	BIOINF_KMB_FNS_UNIBA	ss3023890159	Nov 08, 2017 (151)
76	CSHL	ss3343956740	Nov 08, 2017 (151)
77	ILLUMINA	ss3626330671	Oct 11, 2018 (152)
78	ILLUMINA	ss3630670741	Oct 11, 2018 (152)
79	ILLUMINA	ss3633625262	Oct 11, 2018 (152)
80	ILLUMINA	ss3634378006	Oct 11, 2018 (152)
81	ILLUMINA	ss3635318275	Oct 11, 2018 (152)
82	ILLUMINA	ss3636056992	Oct 11, 2018 (152)
83	ILLUMINA	ss3637068831	Oct 11, 2018 (152)
84	ILLUMINA	ss3637819747	Oct 11, 2018 (152)
85	ILLUMINA	ss3640085359	Oct 11, 2018 (152)
86	ILLUMINA	ss3642825690	Oct 11, 2018 (152)
87	OMUKHERJEE_ADBS	ss3646255200	Oct 11, 2018 (152)
88	URBANLAB	ss3646907495	Oct 11, 2018 (152)
89	ILLUMINA	ss3651535830	Oct 11, 2018 (152)
90	EGCUT_WGS	ss3656568039	Jul 12, 2019 (153)
91	EVA_DECODE	ss3688819274	Jul 12, 2019 (153)
92	ILLUMINA	ss3725114485	Jul 12, 2019 (153)
93	ACPOP	ss3727946144	Jul 12, 2019 (153)
94	ILLUMINA	ss3744678853	Jul 12, 2019 (153)
95	EVA	ss3747457687	Jul 12, 2019 (153)
96	PAGE_CC	ss3770878840	Jul 12, 2019 (153)
97	ILLUMINA	ss3772179726	Jul 12, 2019 (153)
98	PACBIO	ss3783713147	Jul 12, 2019 (153)
99	PACBIO	ss3789321132	Jul 12, 2019 (153)
100	PACBIO	ss3794193546	Jul 12, 2019 (153)
101	KHV_HUMAN_GENOMES	ss3800459379	Jul 12, 2019 (153)
102	EVA	ss3826693735	Apr 25, 2020 (154)
103	EVA	ss3836748607	Apr 25, 2020 (154)
104	EVA	ss3842161018	Apr 25, 2020 (154)
105	SGDP_PRJ	ss3851098776	Apr 25, 2020 (154)
106	KRGDB	ss3896445077	Apr 25, 2020 (154)
107	KOGIC	ss3946693309	Apr 25, 2020 (154)
108	FSA-LAB	ss3983966666	Apr 25, 2021 (155)
109	FSA-LAB	ss3983966667	Apr 25, 2021 (155)
110	EVA	ss3984473618	Apr 25, 2021 (155)
111	EVA	ss3986015958	Apr 25, 2021 (155)
112	TOPMED	ss4486958774	Apr 25, 2021 (155)
113	TOMMO_GENOMICS	ss5148875931	Apr 25, 2021 (155)
114	1000G_HIGH_COVERAGE	ss5246131873	Oct 12, 2022 (156)
115	EVA	ss5314689860	Oct 12, 2022 (156)
116	EVA	ss5325404631	Oct 12, 2022 (156)
117	HUGCELL_USP	ss5446534236	Oct 12, 2022 (156)
118	EVA	ss5506224016	Oct 12, 2022 (156)
119	1000G_HIGH_COVERAGE	ss5520399143	Oct 12, 2022 (156)
120	SANFORD_IMAGENETICS	ss5624232554	Oct 12, 2022 (156)
121	SANFORD_IMAGENETICS	ss5627637451	Oct 12, 2022 (156)
122	TOMMO_GENOMICS	ss5676765073	Oct 12, 2022 (156)
123	EVA	ss5799514638	Oct 12, 2022 (156)
124	YY_MCH	ss5801725155	Oct 12, 2022 (156)
125	EVA	ss5833398197	Oct 12, 2022 (156)
126	EVA	ss5847176313	Oct 12, 2022 (156)
127	EVA	ss5847577836	Oct 12, 2022 (156)
128	EVA	ss5849328483	Oct 12, 2022 (156)
129	EVA	ss5912361211	Oct 12, 2022 (156)
130	EVA	ss5939485197	Oct 12, 2022 (156)
131	EVA	ss5979308180	Oct 12, 2022 (156)
132	1000Genomes	NC_000001.10 - 230849872	Oct 11, 2018 (152)
133	1000Genomes_30x	NC_000001.11 - 230714126	Oct 12, 2022 (156)
134	The Avon Longitudinal Study of Parents and Children	NC_000001.10 - 230849872	Oct 11, 2018 (152)
135	Genetic variation in the Estonian population	NC_000001.10 - 230849872	Oct 11, 2018 (152)
136	The Danish reference pan genome	NC_000001.10 - 230849872	Apr 25, 2020 (154)
137	gnomAD - Genomes	NC_000001.11 - 230714126	Apr 25, 2021 (155)
138	Genome of the Netherlands Release 5	NC_000001.10 - 230849872	Apr 25, 2020 (154)
139	HapMap	NC_000001.11 - 230714126	Apr 25, 2020 (154)
140	KOREAN population from KRGDB	NC_000001.10 - 230849872	Apr 25, 2020 (154)
141	Korean Genome Project	NC_000001.11 - 230714126	Apr 25, 2020 (154)
142	Northern Sweden	NC_000001.10 - 230849872	Jul 12, 2019 (153)
143	The PAGE Study	NC_000001.11 - 230714126	Jul 12, 2019 (153)
144	CNV burdens in cranial meningiomas	NC_000001.10 - 230849872	Apr 25, 2021 (155)
145	PharmGKB Aggregated	NC_000001.11 - 230714126	Apr 25, 2020 (154)
146	Qatari	NC_000001.10 - 230849872	Apr 25, 2020 (154)
147	SGDP_PRJ	NC_000001.10 - 230849872	Apr 25, 2020 (154)
148	Siberian	NC_000001.10 - 230849872	Apr 25, 2020 (154)
149	8.3KJPN	NC_000001.10 - 230849872	Apr 25, 2021 (155)
150	14KJPN	NC_000001.11 - 230714126	Oct 12, 2022 (156)
151	TopMed	NC_000001.11 - 230714126	Apr 25, 2021 (155)
152	UK 10K study - Twins	NC_000001.10 - 230849872	Oct 11, 2018 (152)
153	ALFA	NC_000001.11 - 230714126	Apr 25, 2021 (155)
154	ClinVar	RCV000262949.5	Oct 12, 2022 (156)
155	ClinVar	RCV000835696.3	Oct 12, 2022 (156)
156	ClinVar	RCV002221221.3	Oct 12, 2022 (156)
157	ClinVar	RCV002221222.3	Oct 12, 2022 (156)

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)
rs3789681	Oct 08, 2002 (108)
rs16852405	Oct 07, 2004 (123)
rs36218427	Oct 25, 2006 (127)
rs60366145	May 25, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
3622471, ss3896445077	NC_000001.10:230849871:C:A	NC_000001.11:230714125:C:A	(self)
ss24806983	NT_167186.1:24367650:C:A	NC_000001.11:230714125:C:A	(self)
3622471, ss3896445077	NC_000001.10:230849871:C:G	NC_000001.11:230714125:C:G	(self)
1778314727	NC_000001.11:230714125:C:G	NC_000001.11:230714125:C:G	(self)
ss24806983	NT_167186.1:24367650:C:G	NC_000001.11:230714125:C:G	(self)
ss84297747, ss85127755, ss86137296	NC_000001.8:227156606:C:T	NC_000001.11:230714125:C:T	(self)
ss109021237, ss111914271, ss119241050, ss165369094, ss167558920, ss199729377, ss253884131, ss276256145, ss290753216, ss481131082, ss1585645968, ss1712412884, ss3642825690	NC_000001.9:228916494:C:T	NC_000001.11:230714125:C:T	(self)
5903556, 3264201, 2306287, 1925495, 1426420, 3622471, 1231009, 22939, 1509645, 3115756, 811193, 6845238, 3264201, ss454729631, ss481153107, ss482142643, ss485360564, ss537304992, ss555199776, ss648772961, ss778707188, ss783125969, ss784082581, ss832384810, ss834166278, ss976246045, ss1068678342, ss1295035070, ss1426140710, ss1574742379, ss1602344839, ss1645338872, ss1751904349, ss1795862201, ss1919467715, ss1958366186, ss1966996830, ss2020259095, ss2148294839, ss2624641497, ss2632641563, ss2698294675, ss2767311933, ss2988609611, ss3021190176, ss3343956740, ss3626330671, ss3630670741, ss3633625262, ss3634378006, ss3635318275, ss3636056992, ss3637068831, ss3637819747, ss3640085359, ss3646255200, ss3651535830, ss3656568039, ss3727946144, ss3744678853, ss3747457687, ss3772179726, ss3783713147, ss3789321132, ss3794193546, ss3826693735, ss3836748607, ss3851098776, ss3896445077, ss3983966666, ss3983966667, ss3984473618, ss3986015958, ss5148875931, ss5314689860, ss5325404631, ss5506224016, ss5624232554, ss5627637451, ss5799514638, ss5833398197, ss5847176313, ss5847577836, ss5939485197, ss5979308180	NC_000001.10:230849871:C:T	NC_000001.11:230714125:C:T	(self)
RCV000262949.5, RCV000835696.3, RCV002221221.3, RCV002221222.3, 7925078, 42362197, 288094, 3071310, 100309, 931, 10602177, 50565109, 1778314727, ss2170880770, ss3023890159, ss3646907495, ss3688819274, ss3725114485, ss3770878840, ss3800459379, ss3842161018, ss3946693309, ss4486958774, ss5246131873, ss5446534236, ss5520399143, ss5676765073, ss5801725155, ss5849328483, ss5912361211	NC_000001.11:230714125:C:T	NC_000001.11:230714125:C:T	(self)
ss11397726	NT_021973.15:780860:C:T	NC_000001.11:230714125:C:T	(self)
ss16418328, ss20566154	NT_021973.16:780860:C:T	NC_000001.11:230714125:C:T	(self)
ss6495, ss1471227, ss3498219, ss4976051, ss16338934, ss22886624, ss28460766, ss43816751, ss51853112, ss75124512, ss76867055, ss84151202, ss84151221, ss86211282, ss86215611, ss102830773, ss119337518, ss160737663, ss161227514, ss173908246, ss244302764, ss469996493	NT_167186.1:24367650:C:T	NC_000001.11:230714125:C:T	(self)

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

32 citations for rs5051

PMID	Title	Author	Year	Journal
9120024	A nucleotide substitution in the promoter of human angiotensinogen is associated with essential hypertension and affects basal transcription in vitro.	Inoue I et al.	1997	The Journal of clinical investigation
12743009	Angiotensinogen single nucleotide polymorphisms, elevated blood pressure, and risk of cardiovascular disease.	Sethi AA et al.	2003	Hypertension (Dallas, Tex.
16286570	A population association study of angiotensinogen polymorphisms and haplotypes with left ventricular phenotypes.	Rasmussen-Torvik LJ et al.	2005	Hypertension (Dallas, Tex.
18076107	Confronting complexity in late-onset Alzheimer disease: application of two-stage analysis approach addressing heterogeneity and epistasis.	Thornton-Wells TA et al.	2008	Genetic epidemiology
19105203	An association analysis of Alzheimer disease candidate genes detects an ancestral risk haplotype clade in ACE and putative multilocus association between ACE, A2M, and LRRTM3.	Edwards TL et al.	2009	American journal of medical genetics. Part B, Neuropsychiatric genetics
19770777	Genotype-phenotype analysis of angiotensinogen polymorphisms and essential hypertension: the importance of haplotypes.	Watkins WS et al.	2010	Journal of hypertension
20047954	Variants in blood pressure genes and the risk of renal cell carcinoma.	Andreotti G et al.	2010	Carcinogenesis
20577119	Pharmacogenetic association of hypertension candidate genes with fasting glucose in the GenHAT Study.	Irvin MR et al.	2010	Journal of hypertension
20591971	Gene-environment interaction for hypertension among African American women across generations.	Taylor JY et al.	2010	Biological research for nursing
20808897	Disease-associated mutations that alter the RNA structural ensemble.	Halvorsen M et al.	2010	PLoS genetics
20952631	Association of single-nucleotide polymorphisms from 17 candidate genes with baseline symptom-limited exercise test duration and decrease in duration over 20 years: the Coronary Artery Risk Development in Young Adults (CARDIA) fitness study.	Sarzynski MA et al.	2010	Circulation. Cardiovascular genetics
21056700	Lack of replication in polymorphisms reported to be associated with atrial fibrillation.	Sinner MF et al.	2011	Heart rhythm
21306748	The association of the angiotensinogen gene with insulin sensitivity in humans: a tagging single nucleotide polymorphism and haplotype approach.	Underwood PC et al.	2011	Metabolism
21859746	Genetic and BMI risks for predicting blood pressure in three generations of West African Dogon women.	Taylor JY et al.	2013	Biological research for nursing
22388798	Gene panels to help identify subgroups at high and low risk of coronary heart disease among those randomized to antihypertensive treatment: the GenHAT study.	Lynch AI et al.	2012	Pharmacogenetics and genomics
23036011	Shared ancestral susceptibility to colorectal cancer and other nutrition related diseases.	Huhn S et al.	2012	BMC medical genetics
23497168	Omega-3 fatty acids, polymorphisms and lipid related cardiovascular disease risk factors in the Inuit population.	Rudkowska I et al.	2013	Nutrition & metabolism
23716723	The relationship between angiotensinogen gene polymorphisms and essential hypertension in a Northern Han Chinese population.	Li H et al.	2014	Angiology
24722536	Relationship of renin-angiotensin-aldosterone system polymorphisms and phenotypes to mortality in Chinese coronary atherosclerosis patients.	Jia EZ et al.	2014	Scientific reports
25361584	Subgroups at high risk for ischaemic heart disease:identification and validation in 67 000 individuals from the general population.	Frikke-Schmidt R et al.	2015	International journal of epidemiology
25723521	Polymorphisms of renin-angiotensin-aldosterone system gene in chinese han patients with nonfamilial atrial fibrillation.	Zhao LQ et al.	2015	PloS one
26102248	The C4280A (rs5705) gene polymorphism of the renin (REN) gene is associated with risk of developing coronary artery disease, but not with restenosis after coronary stenting.	Fragoso JM et al.	2015	Experimental and molecular pathology
26142106	Epistatic interaction between common AGT G(-6)A (rs5051) and AGTR1 A1166C (rs5186) variants contributes to variation in kidney size at birth.	Kaczmarczyk M et al.	2015	Gene
26791477	The effects of genes implicated in cardiovascular disease on blood pressure response to treatment among treatment-naive hypertensive African Americans in the GenHAT study.	Do AN et al.	2016	Journal of human hypertension
27240348	Association of Genetic Polymorphisms of Renin-Angiotensin-Aldosterone System-Related Genes with Arterio-Venous Fistula Malfunction in Hemodialysis Patients.	Chen YW et al.	2016	International journal of molecular sciences
27342049	AGTR1 rs3772622 gene polymorphism increase the risk of nonalcoholic fatty liver disease patients suffer coronary artery disease in Northern Chinese Han population.	Liu Y et al.	2016	Lipids in health and disease
28881807	Associations of high altitude polycythemia with polymorphisms in EPHA2 and AGT in Chinese Han and Tibetan populations.	Liu L et al.	2017	Oncotarget
29627490	Genetically determined enlargement of carotid body evaluated using computed angiotomography.	Jaźwiec P et al.	2018	Respiratory physiology & neurobiology
30478747	Development and application of low-cost T-ARMS-PCR assay for AGT and CYP11B1 gene polymorphisms.	Hussain M et al.	2019	Molecular biology reports
31484268	[Association between both maternal and fetal angiotensinogen gene single nucleotide polymorphism and preeclampsia/eclampsia].	Yu SJ et al.	2019	Zhonghua liu xing bing xue za zhi = Zhonghua liuxingbingxue zazhi
34933429	[AGT rs5051 gene polymorphism increases the risk of coronary heart disease in patients with non-alcoholic fatty liver disease in the Han Chinese population].	Dong MZ et al.	2021	Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology
35886041	The Genetic Variants in the Renin-Angiotensin System and the Risk of Heart Failure in Polish Patients.	Gorący I et al.	2022	Genes

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:

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Genomic regions, transcripts, and products
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs5051