Name: rs4309
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.

rs4309

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr17:63482562 (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>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.362862 (96046/264690, TOPMED)
T=0.416738 (105133/252276, ALFA)
T=0.457115 (114893/251344, GnomAD_exome) (+ 27 more)
T=0.358042 (50166/140112, GnomAD)
T=0.449158 (54464/121258, ExAC)
T=0.36087 (28396/78688, PAGE_STUDY)
C=0.40102 (11332/28258, 14KJPN)
C=0.40352 (6763/16760, 8.3KJPN)
T=0.33569 (4366/13006, GO-ESP)
T=0.4191 (2684/6404, 1000G_30x)
T=0.4235 (2121/5008, 1000G)
T=0.4489 (2011/4480, Estonian)
T=0.4235 (1632/3854, ALSPAC)
T=0.4361 (1617/3708, TWINSUK)
C=0.4024 (1179/2930, KOREAN)
T=0.4568 (952/2084, HGDP_Stanford)
T=0.3566 (674/1890, HapMap)
T=0.437 (436/998, GoNL)
C=0.398 (314/788, PRJEB37584)
C=0.350 (211/603, Vietnamese)
T=0.443 (266/600, NorthernSweden)
T=0.371 (198/534, MGP)
C=0.281 (109/388, SGDP_PRJ)
T=0.375 (114/304, FINRISK)
T=0.301 (65/216, Qatari)
T=0.22 (14/64, Ancient Sardinia)
T=0.17 (8/46, PharmGKB)
C=0.24 (11/46, Siberian)
C=0.50 (20/40, GENOME_DK)
T=0.50 (20/40, GENOME_DK)

Clinical Significance: Reported in ClinVar
Gene : Consequence: ACE : Synonymous Variant
Publications: 13 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	268610	C=0.587331	T=0.412669
European	Sub	224146	C=0.578592	T=0.421408
African	Sub	15622	C=0.83024	T=0.16976
African Others	Sub	540	C=0.878	T=0.122
African American	Sub	15082	C=0.82854	T=0.17146
Asian	Sub	836	C=0.356	T=0.644
East Asian	Sub	660	C=0.371	T=0.629
Other Asian	Sub	176	C=0.301	T=0.699
Latin American 1	Sub	1198	C=0.6736	T=0.3264
Latin American 2	Sub	6882	C=0.4243	T=0.5757
South Asian	Sub	5046	C=0.4770	T=0.5230
Other	Sub	14880	C=0.58280	T=0.41720

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	C=0.637138	T=0.362862
Allele Frequency Aggregator	Total	Global	252276	C=0.583262	T=0.416738
Allele Frequency Aggregator	European	Sub	214082	C=0.579133	T=0.420867
Allele Frequency Aggregator	Other	Sub	13448	C=0.58016	T=0.41984
Allele Frequency Aggregator	African	Sub	10784	C=0.82780	T=0.17220
Allele Frequency Aggregator	Latin American 2	Sub	6882	C=0.4243	T=0.5757
Allele Frequency Aggregator	South Asian	Sub	5046	C=0.4770	T=0.5230
Allele Frequency Aggregator	Latin American 1	Sub	1198	C=0.6736	T=0.3264
Allele Frequency Aggregator	Asian	Sub	836	C=0.356	T=0.644
gnomAD - Exomes	Global	Study-wide	251344	C=0.542885	T=0.457115
gnomAD - Exomes	European	Sub	135306	C=0.578481	T=0.421519
gnomAD - Exomes	Asian	Sub	49004	C=0.41907	T=0.58093
gnomAD - Exomes	American	Sub	34576	C=0.40210	T=0.59790
gnomAD - Exomes	African	Sub	16250	C=0.84757	T=0.15243
gnomAD - Exomes	Ashkenazi Jewish	Sub	10070	C=0.64796	T=0.35204
gnomAD - Exomes	Other	Sub	6138	C=0.5608	T=0.4392
gnomAD - Genomes	Global	Study-wide	140112	C=0.641958	T=0.358042
gnomAD - Genomes	European	Sub	75862	C=0.57540	T=0.42460
gnomAD - Genomes	African	Sub	41996	C=0.83017	T=0.16983
gnomAD - Genomes	American	Sub	13654	C=0.50293	T=0.49707
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	C=0.6418	T=0.3582
gnomAD - Genomes	East Asian	Sub	3128	C=0.3513	T=0.6487
gnomAD - Genomes	Other	Sub	2150	C=0.6200	T=0.3800
ExAC	Global	Study-wide	121258	C=0.550842	T=0.449158
ExAC	Europe	Sub	73272	C=0.58094	T=0.41906
ExAC	Asian	Sub	25130	C=0.42081	T=0.57919
ExAC	American	Sub	11564	C=0.38239	T=0.61761
ExAC	African	Sub	10388	C=0.83914	T=0.16086
ExAC	Other	Sub	904	C=0.567	T=0.433
The PAGE Study	Global	Study-wide	78688	C=0.63913	T=0.36087
The PAGE Study	AfricanAmerican	Sub	32510	C=0.82722	T=0.17278
The PAGE Study	Mexican	Sub	10806	C=0.43226	T=0.56774
The PAGE Study	Asian	Sub	8318	C=0.4108	T=0.5892
The PAGE Study	PuertoRican	Sub	7914	C=0.6324	T=0.3676
The PAGE Study	NativeHawaiian	Sub	4534	C=0.4063	T=0.5937
The PAGE Study	Cuban	Sub	4230	C=0.6378	T=0.3622
The PAGE Study	Dominican	Sub	3828	C=0.7192	T=0.2808
The PAGE Study	CentralAmerican	Sub	2450	C=0.4498	T=0.5502
The PAGE Study	SouthAmerican	Sub	1982	C=0.4284	T=0.5716
The PAGE Study	NativeAmerican	Sub	1260	C=0.5310	T=0.4690
The PAGE Study	SouthAsian	Sub	856	C=0.459	T=0.541
14KJPN	JAPANESE	Study-wide	28258	C=0.40102	T=0.59898
8.3KJPN	JAPANESE	Study-wide	16760	C=0.40352	T=0.59648
GO Exome Sequencing Project	Global	Study-wide	13006	C=0.66431	T=0.33569
GO Exome Sequencing Project	European American	Sub	8600	C=0.5829	T=0.4171
GO Exome Sequencing Project	African American	Sub	4406	C=0.8232	T=0.1768
1000Genomes_30x	Global	Study-wide	6404	C=0.5809	T=0.4191
1000Genomes_30x	African	Sub	1786	C=0.8925	T=0.1075
1000Genomes_30x	Europe	Sub	1266	C=0.5987	T=0.4013
1000Genomes_30x	South Asian	Sub	1202	C=0.4326	T=0.5674
1000Genomes_30x	East Asian	Sub	1170	C=0.3573	T=0.6427
1000Genomes_30x	American	Sub	980	C=0.439	T=0.561
1000Genomes	Global	Study-wide	5008	C=0.5765	T=0.4235
1000Genomes	African	Sub	1322	C=0.8896	T=0.1104
1000Genomes	East Asian	Sub	1008	C=0.3532	T=0.6468
1000Genomes	Europe	Sub	1006	C=0.6123	T=0.3877
1000Genomes	South Asian	Sub	978	C=0.438	T=0.562
1000Genomes	American	Sub	694	C=0.448	T=0.552
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.5511	T=0.4489
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.5765	T=0.4235
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.5639	T=0.4361
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.4024	T=0.5976
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	C=0.5432	T=0.4568
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	C=0.353	T=0.647
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	C=0.486	T=0.514
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	C=0.746	T=0.254
HGDP-CEPH-db Supplement 1	Europe	Sub	320	C=0.641	T=0.359
HGDP-CEPH-db Supplement 1	Africa	Sub	242	C=0.897	T=0.103
HGDP-CEPH-db Supplement 1	America	Sub	216	C=0.111	T=0.889
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	C=0.81	T=0.19
HapMap	Global	Study-wide	1890	C=0.6434	T=0.3566
HapMap	American	Sub	770	C=0.521	T=0.479
HapMap	African	Sub	692	C=0.861	T=0.139
HapMap	Asian	Sub	252	C=0.401	T=0.599
HapMap	Europe	Sub	176	C=0.670	T=0.330
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.563	T=0.437
CNV burdens in cranial meningiomas	Global	Study-wide	788	C=0.398	T=0.602
CNV burdens in cranial meningiomas	CRM	Sub	788	C=0.398	T=0.602
A Vietnamese Genetic Variation Database	Global	Study-wide	603	C=0.350	T=0.650
Northern Sweden	ACPOP	Study-wide	600	C=0.557	T=0.443
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	C=0.629	T=0.371
SGDP_PRJ	Global	Study-wide	388	C=0.281	T=0.719
FINRISK	Finnish from FINRISK project	Study-wide	304	C=0.625	T=0.375
Qatari	Global	Study-wide	216	C=0.699	T=0.301
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	64	C=0.78	T=0.22
PharmGKB Aggregated	Global	Study-wide	46	C=0.83	T=0.17
PharmGKB Aggregated	PA151793031	Sub	46	C=0.83	T=0.17
Siberian	Global	Study-wide	46	C=0.24	T=0.76
The Danish reference pan genome	Danish	Study-wide	40	C=0.50	T=0.50

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.63482562C>T
GRCh37.p13 chr 17	NC_000017.10:g.61559923C>T
ACE RefSeqGene	NG_011648.1:g.10490C>T

Gene: ACE, angiotensin I converting enzyme (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ACE transcript variant 3	NM_001178057.2:c.	N/A	Genic Upstream Transcript Variant
ACE transcript variant 6	NM_001382702.1:c.	N/A	Genic Upstream Transcript Variant
ACE transcript variant 2	NM_152830.3:c.	N/A	Genic Upstream Transcript Variant
ACE transcript variant 1	NM_000789.4:c.1215C>T	P [CCC] > P [CCT]	Coding Sequence Variant
angiotensin-converting enzyme isoform 1 precursor	NP_000780.1:p.Pro405=	P (Pro) > P (Pro)	Synonymous Variant
ACE transcript variant 4	NM_001382700.1:c.648C>T	P [CCC] > P [CCT]	Coding Sequence Variant
angiotensin-converting enzyme isoform 4	NP_001369629.1:p.Pro216=	P (Pro) > P (Pro)	Synonymous Variant
ACE transcript variant 5	NM_001382701.1:c.363C>T	P [CCC] > P [CCT]	Coding Sequence Variant
angiotensin-converting enzyme isoform 5	NP_001369630.1:p.Pro121=	P (Pro) > P (Pro)	Synonymous Variant
ACE transcript variant 7	NR_168483.1:n.	N/A	Genic Upstream Transcript Variant
ACE transcript variant X1	XM_006721737.4: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: 256305 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000247405.1	not specified	Benign
RCV000287918.5	Renal tubular dysgenesis	Benign
RCV001651138.5	not provided	Benign

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=	T
GRCh38.p14 chr 17	NC_000017.11:g.63482562=	NC_000017.11:g.63482562C>T
GRCh37.p13 chr 17	NC_000017.10:g.61559923=	NC_000017.10:g.61559923C>T
ACE RefSeqGene	NG_011648.1:g.10490=	NG_011648.1:g.10490C>T
ACE transcript variant 1	NM_000789.4:c.1215=	NM_000789.4:c.1215C>T
ACE transcript variant 1	NM_000789.3:c.1215=	NM_000789.3:c.1215C>T
ACE transcript variant 5	NM_001382701.1:c.363=	NM_001382701.1:c.363C>T
ACE transcript variant 4	NM_001382700.1:c.648=	NM_001382700.1:c.648C>T
angiotensin-converting enzyme isoform 1 precursor	NP_000780.1:p.Pro405=	NP_000780.1:p.Pro405=
angiotensin-converting enzyme isoform 5	NP_001369630.1:p.Pro121=	NP_001369630.1:p.Pro121=
angiotensin-converting enzyme isoform 4	NP_001369629.1:p.Pro216=	NP_001369629.1:p.Pro216=

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#.

159 SubSNP, 29 Frequency, 3 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	DEBNICK	ss4698	Sep 19, 2000 (36)
2	WIAF	ss19433	Sep 19, 2000 (96)
3	WICVAR	ss3176896	Aug 15, 2001 (100)
4	BCM_SSAHASNP	ss10850398	Jul 11, 2003 (116)
5	CSHL-HAPMAP	ss16744938	Feb 27, 2004 (120)
6	IMCJ-GDT	ss22886477	Apr 05, 2004 (121)
7	PARC	ss23142685	Sep 20, 2004 (126)
8	ABI	ss43987849	Mar 11, 2006 (126)
9	APPLERA_GI	ss48402192	Mar 11, 2006 (126)
10	ILLUMINA	ss65734671	Oct 16, 2006 (127)
11	ILLUMINA	ss66560345	Dec 01, 2006 (127)
12	ILLUMINA	ss67325747	Dec 01, 2006 (127)
13	ILLUMINA	ss67727813	Dec 01, 2006 (127)
14	ILLUMINA	ss70799354	May 26, 2008 (130)
15	ILLUMINA	ss71377964	May 17, 2007 (127)
16	ILLUMINA	ss75806582	Dec 07, 2007 (129)
17	ILLUMINA	ss79178998	Dec 16, 2007 (130)
18	KRIBB_YJKIM	ss83346396	Dec 16, 2007 (130)
19	PHARMGKB_PARC	ss84149178	Dec 16, 2007 (130)
20	BGI	ss103355550	Dec 01, 2009 (131)
21	1000GENOMES	ss109855855	Jan 24, 2009 (130)
22	ILLUMINA	ss122292311	Dec 01, 2009 (131)
23	ILLUMINA	ss154289320	Dec 01, 2009 (131)
24	GMI	ss154530207	Dec 01, 2009 (131)
25	ILLUMINA	ss159466279	Dec 01, 2009 (131)
26	SEATTLESEQ	ss159736062	Dec 01, 2009 (131)
27	ILLUMINA	ss160671632	Dec 01, 2009 (131)
28	COMPLETE_GENOMICS	ss171608646	Jul 04, 2010 (132)
29	ILLUMINA	ss171771610	Jul 04, 2010 (132)
30	ILLUMINA	ss173712892	Jul 04, 2010 (132)
31	BCM-HGSC-SUB	ss207925777	Jul 04, 2010 (132)
32	1000GENOMES	ss227611659	Jul 14, 2010 (132)
33	1000GENOMES	ss237290869	Jul 15, 2010 (132)
34	1000GENOMES	ss243576145	Jul 15, 2010 (132)
35	ILLUMINA	ss244299579	Jul 04, 2010 (132)
36	BL	ss255726587	May 09, 2011 (134)
37	GMI	ss282810971	May 04, 2012 (137)
38	PJP	ss291978329	May 09, 2011 (134)
39	NHLBI-ESP	ss342461098	May 09, 2011 (134)
40	ILLUMINA	ss480921294	May 04, 2012 (137)
41	ILLUMINA	ss480940521	May 04, 2012 (137)
42	ILLUMINA	ss481901129	Sep 08, 2015 (146)
43	ILLUMINA	ss485255632	May 04, 2012 (137)
44	1000GENOMES	ss491129078	May 04, 2012 (137)
45	CLINSEQ_SNP	ss491741114	May 04, 2012 (137)
46	ILLUMINA	ss537226336	Sep 08, 2015 (146)
47	TISHKOFF	ss565353330	Apr 25, 2013 (138)
48	SSMP	ss661164630	Apr 25, 2013 (138)
49	ILLUMINA	ss778905680	Sep 08, 2015 (146)
50	ILLUMINA	ss783073771	Sep 08, 2015 (146)
51	ILLUMINA	ss784031533	Sep 08, 2015 (146)
52	ILLUMINA	ss825509516	Apr 01, 2015 (144)
53	ILLUMINA	ss832331950	Sep 08, 2015 (146)
54	ILLUMINA	ss832977769	Jul 13, 2019 (153)
55	ILLUMINA	ss834366976	Sep 08, 2015 (146)
56	JMKIDD_LAB	ss974499795	Aug 21, 2014 (142)
57	EVA-GONL	ss993247518	Aug 21, 2014 (142)
58	JMKIDD_LAB	ss1067573760	Aug 21, 2014 (142)
59	JMKIDD_LAB	ss1081153479	Aug 21, 2014 (142)
60	1000GENOMES	ss1359206734	Aug 21, 2014 (142)
61	DDI	ss1428072206	Apr 01, 2015 (144)
62	EVA_GENOME_DK	ss1578209875	Apr 01, 2015 (144)
63	EVA_FINRISK	ss1584107792	Apr 01, 2015 (144)
64	EVA_UK10K_ALSPAC	ss1635930901	Apr 01, 2015 (144)
65	EVA_UK10K_TWINSUK	ss1678924934	Apr 01, 2015 (144)
66	EVA_EXAC	ss1692904728	Apr 01, 2015 (144)
67	EVA_DECODE	ss1697295052	Apr 01, 2015 (144)
68	EVA_MGP	ss1711468506	Apr 01, 2015 (144)
69	EVA_SVP	ss1713592003	Apr 01, 2015 (144)
70	ILLUMINA	ss1752234162	Sep 08, 2015 (146)
71	HAMMER_LAB	ss1808841453	Sep 08, 2015 (146)
72	WEILL_CORNELL_DGM	ss1936707359	Feb 12, 2016 (147)
73	ILLUMINA	ss1959760318	Feb 12, 2016 (147)
74	GENOMED	ss1968416593	Jul 19, 2016 (147)
75	JJLAB	ss2029126772	Sep 14, 2016 (149)
76	USC_VALOUEV	ss2157607666	Dec 20, 2016 (150)
77	HUMAN_LONGEVITY	ss2217954362	Dec 20, 2016 (150)
78	SYSTEMSBIOZJU	ss2629057764	Nov 08, 2017 (151)
79	ILLUMINA	ss2633412891	Nov 08, 2017 (151)
80	GRF	ss2702170308	Nov 08, 2017 (151)
81	ILLUMINA	ss2710854962	Nov 08, 2017 (151)
82	GNOMAD	ss2742915272	Nov 08, 2017 (151)
83	GNOMAD	ss2749834049	Nov 08, 2017 (151)
84	GNOMAD	ss2951511419	Nov 08, 2017 (151)
85	SWEGEN	ss3015764870	Nov 08, 2017 (151)
86	ILLUMINA	ss3021795169	Nov 08, 2017 (151)
87	EVA_SAMSUNG_MC	ss3023070842	Nov 08, 2017 (151)
88	BIOINF_KMB_FNS_UNIBA	ss3028385036	Nov 08, 2017 (151)
89	CSIRBIOHTS	ss3029638562	Nov 08, 2017 (151)
90	CSHL	ss3351801192	Nov 08, 2017 (151)
91	ILLUMINA	ss3625716383	Oct 12, 2018 (152)
92	ILLUMINA	ss3627701049	Oct 12, 2018 (152)
93	ILLUMINA	ss3631392954	Oct 12, 2018 (152)
94	ILLUMINA	ss3633145833	Oct 12, 2018 (152)
95	ILLUMINA	ss3633853634	Oct 12, 2018 (152)
96	ILLUMINA	ss3634682409	Oct 12, 2018 (152)
97	ILLUMINA	ss3635541292	Oct 12, 2018 (152)
98	ILLUMINA	ss3636371611	Oct 12, 2018 (152)
99	ILLUMINA	ss3637292856	Oct 12, 2018 (152)
100	ILLUMINA	ss3638169955	Oct 12, 2018 (152)
101	ILLUMINA	ss3639093270	Oct 12, 2018 (152)
102	ILLUMINA	ss3639553921	Oct 12, 2018 (152)
103	ILLUMINA	ss3640389719	Oct 12, 2018 (152)
104	ILLUMINA	ss3643147795	Oct 12, 2018 (152)
105	OMUKHERJEE_ADBS	ss3646514766	Oct 12, 2018 (152)
106	ILLUMINA	ss3652212683	Oct 12, 2018 (152)
107	EGCUT_WGS	ss3682636958	Jul 13, 2019 (153)
108	EVA_DECODE	ss3700743189	Jul 13, 2019 (153)
109	ILLUMINA	ss3725634926	Jul 13, 2019 (153)
110	ACPOP	ss3742142352	Jul 13, 2019 (153)
111	ILLUMINA	ss3744982671	Jul 13, 2019 (153)
112	EVA	ss3754829718	Jul 13, 2019 (153)
113	PAGE_CC	ss3771938283	Jul 13, 2019 (153)
114	ILLUMINA	ss3772480444	Jul 13, 2019 (153)
115	KHV_HUMAN_GENOMES	ss3820094414	Jul 13, 2019 (153)
116	EVA	ss3825139472	Apr 27, 2020 (154)
117	EVA	ss3825531637	Apr 27, 2020 (154)
118	EVA	ss3825546331	Apr 27, 2020 (154)
119	EVA	ss3825904387	Apr 27, 2020 (154)
120	EVA	ss3834934569	Apr 27, 2020 (154)
121	EVA	ss3841079494	Apr 27, 2020 (154)
122	EVA	ss3846576954	Apr 27, 2020 (154)
123	HGDP	ss3847567937	Apr 27, 2020 (154)
124	SGDP_PRJ	ss3886037916	Apr 27, 2020 (154)
125	KRGDB	ss3935784511	Apr 27, 2020 (154)
126	FSA-LAB	ss3984120673	Apr 26, 2021 (155)
127	EVA	ss3984725240	Apr 26, 2021 (155)
128	EVA	ss3985798351	Apr 26, 2021 (155)
129	EVA	ss3986075466	Apr 26, 2021 (155)
130	EVA	ss3986736456	Apr 26, 2021 (155)
131	EVA	ss4017774218	Apr 26, 2021 (155)
132	TOPMED	ss5040937078	Apr 26, 2021 (155)
133	TOMMO_GENOMICS	ss5223082653	Apr 26, 2021 (155)
134	EVA	ss5236945261	Apr 26, 2021 (155)
135	EVA	ss5237669551	Oct 16, 2022 (156)
136	1000G_HIGH_COVERAGE	ss5303628645	Oct 16, 2022 (156)
137	TRAN_CS_UWATERLOO	ss5314448865	Oct 16, 2022 (156)
138	EVA	ss5315895615	Oct 16, 2022 (156)
139	EVA	ss5428486443	Oct 16, 2022 (156)
140	HUGCELL_USP	ss5496622582	Oct 16, 2022 (156)
141	1000G_HIGH_COVERAGE	ss5607591673	Oct 16, 2022 (156)
142	EVA	ss5624074756	Oct 16, 2022 (156)
143	SANFORD_IMAGENETICS	ss5624400577	Oct 16, 2022 (156)
144	SANFORD_IMAGENETICS	ss5660375072	Oct 16, 2022 (156)
145	TOMMO_GENOMICS	ss5779500192	Oct 16, 2022 (156)
146	EVA	ss5799459504	Oct 16, 2022 (156)
147	EVA	ss5799979148	Oct 16, 2022 (156)
148	EVA	ss5800210510	Oct 16, 2022 (156)
149	YY_MCH	ss5816654697	Oct 16, 2022 (156)
150	EVA	ss5834171585	Oct 16, 2022 (156)
151	EVA	ss5847477033	Oct 16, 2022 (156)
152	EVA	ss5847803543	Oct 16, 2022 (156)
153	EVA	ss5848455160	Oct 16, 2022 (156)
154	EVA	ss5851859723	Oct 16, 2022 (156)
155	EVA	ss5914485447	Oct 16, 2022 (156)
156	EVA	ss5951770489	Oct 16, 2022 (156)
157	EVA	ss5979511726	Oct 16, 2022 (156)
158	EVA	ss5980976602	Oct 16, 2022 (156)
159	EVA	ss5981302913	Oct 16, 2022 (156)
160	1000Genomes	NC_000017.10 - 61559923	Oct 12, 2018 (152)
161	1000Genomes_30x	NC_000017.11 - 63482562	Oct 16, 2022 (156)
162	The Avon Longitudinal Study of Parents and Children	NC_000017.10 - 61559923	Oct 12, 2018 (152)
163	Genetic variation in the Estonian population	NC_000017.10 - 61559923	Oct 12, 2018 (152)
164	ExAC	NC_000017.10 - 61559923	Oct 12, 2018 (152)
165	FINRISK	NC_000017.10 - 61559923	Apr 27, 2020 (154)
166	The Danish reference pan genome	NC_000017.10 - 61559923	Apr 27, 2020 (154)
167	gnomAD - Genomes	NC_000017.11 - 63482562	Apr 26, 2021 (155)
168	gnomAD - Exomes	NC_000017.10 - 61559923	Jul 13, 2019 (153)
169	GO Exome Sequencing Project	NC_000017.10 - 61559923	Oct 12, 2018 (152)
170	Genome of the Netherlands Release 5	NC_000017.10 - 61559923	Apr 27, 2020 (154)
171	HGDP-CEPH-db Supplement 1	NC_000017.9 - 58913655	Apr 27, 2020 (154)
172	HapMap	NC_000017.11 - 63482562	Apr 27, 2020 (154)
173	KOREAN population from KRGDB	NC_000017.10 - 61559923	Apr 27, 2020 (154)
174	Medical Genome Project healthy controls from Spanish population	NC_000017.10 - 61559923	Apr 27, 2020 (154)
175	Northern Sweden	NC_000017.10 - 61559923	Jul 13, 2019 (153)
176	The PAGE Study	NC_000017.11 - 63482562	Jul 13, 2019 (153)
177	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000017.10 - 61559923	Apr 26, 2021 (155)
178	CNV burdens in cranial meningiomas	NC_000017.10 - 61559923	Apr 26, 2021 (155)
179	PharmGKB Aggregated	NC_000017.11 - 63482562	Apr 27, 2020 (154)
180	Qatari	NC_000017.10 - 61559923	Apr 27, 2020 (154)
181	SGDP_PRJ	NC_000017.10 - 61559923	Apr 27, 2020 (154)
182	Siberian	NC_000017.10 - 61559923	Apr 27, 2020 (154)
183	8.3KJPN	NC_000017.10 - 61559923	Apr 26, 2021 (155)
184	14KJPN	NC_000017.11 - 63482562	Oct 16, 2022 (156)
185	TopMed	NC_000017.11 - 63482562	Apr 26, 2021 (155)
186	UK 10K study - Twins	NC_000017.10 - 61559923	Oct 12, 2018 (152)
187	A Vietnamese Genetic Variation Database	NC_000017.10 - 61559923	Jul 13, 2019 (153)
188	ALFA	NC_000017.11 - 63482562	Apr 26, 2021 (155)
189	ClinVar	RCV000247405.1	Oct 12, 2018 (152)
190	ClinVar	RCV000287918.5	Oct 16, 2022 (156)
191	ClinVar	RCV001651138.5	Oct 16, 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)
rs17024	Jun 15, 2001 (96)
rs2229838	Sep 28, 2001 (100)
rs17236757	Mar 11, 2006 (126)
rs61170120	May 26, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
245829, ss109855855, ss171608646, ss207925777, ss255726587, ss282810971, ss291978329, ss480921294, ss491741114, ss825509516, ss1697295052, ss1713592003, ss3639093270, ss3639553921, ss3643147795, ss3847567937	NC_000017.9:58913654:C:T	NC_000017.11:63482561:C:T	(self)
72469814, 40157757, 28375206, 3357555, 104253, 4410070, 12220522, 1596532, 17893404, 42961905, 584266, 15427217, 1024278, 274788, 18749281, 38054896, 10124020, 81051960, 40157757, 8878320, ss227611659, ss237290869, ss243576145, ss342461098, ss480940521, ss481901129, ss485255632, ss491129078, ss537226336, ss565353330, ss661164630, ss778905680, ss783073771, ss784031533, ss832331950, ss832977769, ss834366976, ss974499795, ss993247518, ss1067573760, ss1081153479, ss1359206734, ss1428072206, ss1578209875, ss1584107792, ss1635930901, ss1678924934, ss1692904728, ss1711468506, ss1752234162, ss1808841453, ss1936707359, ss1959760318, ss1968416593, ss2029126772, ss2157607666, ss2629057764, ss2633412891, ss2702170308, ss2710854962, ss2742915272, ss2749834049, ss2951511419, ss3015764870, ss3021795169, ss3023070842, ss3029638562, ss3351801192, ss3625716383, ss3627701049, ss3631392954, ss3633145833, ss3633853634, ss3634682409, ss3635541292, ss3636371611, ss3637292856, ss3638169955, ss3640389719, ss3646514766, ss3652212683, ss3682636958, ss3742142352, ss3744982671, ss3754829718, ss3772480444, ss3825139472, ss3825531637, ss3825546331, ss3825904387, ss3834934569, ss3841079494, ss3886037916, ss3935784511, ss3984120673, ss3984725240, ss3985798351, ss3986075466, ss3986736456, ss4017774218, ss5223082653, ss5315895615, ss5428486443, ss5624074756, ss5624400577, ss5660375072, ss5799459504, ss5799979148, ss5800210510, ss5834171585, ss5847477033, ss5847803543, ss5848455160, ss5951770489, ss5979511726, ss5980976602, ss5981302913	NC_000017.10:61559922:C:T	NC_000017.11:63482561:C:T	(self)
RCV000247405.1, RCV000287918.5, RCV001651138.5, 95117608, 511419654, 1511702, 1159752, 5110, 113337296, 256482740, 13298978267, ss2217954362, ss3028385036, ss3700743189, ss3725634926, ss3771938283, ss3820094414, ss3846576954, ss5040937078, ss5236945261, ss5237669551, ss5303628645, ss5314448865, ss5496622582, ss5607591673, ss5779500192, ss5816654697, ss5851859723, ss5914485447	NC_000017.11:63482561:C:T	NC_000017.11:63482561:C:T	(self)
ss10850398	NT_010783.13:16851854:C:T	NC_000017.11:63482561:C:T	(self)
ss16744938	NT_010783.14:20211933:C:T	NC_000017.11:63482561:C:T	(self)
ss4698, ss19433, ss3176896, ss22886477, ss23142685, ss43987849, ss48402192, ss65734671, ss66560345, ss67325747, ss67727813, ss70799354, ss71377964, ss75806582, ss79178998, ss83346396, ss84149178, ss103355550, ss122292311, ss154289320, ss154530207, ss159466279, ss159736062, ss160671632, ss171771610, ss173712892, ss244299579	NT_010783.15:26834074:C:T	NC_000017.11:63482561:C:T	(self)

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

13 citations for rs4309

PMID	Title	Author	Year	Journal
17092869	Haplotype structure of five SNPs within the ACE gene in the Tunisian population.	Rebaï M et al.	2006	Annals of human biology
18698231	Polymorphisms affecting gene transcription and mRNA processing in pharmacogenetic candidate genes: detection through allelic expression imbalance in human target tissues.	Johnson AD et al.	2008	Pharmacogenetics and genomics
19132786	Angiotensin-converting enzyme gene does not contribute to genetic susceptibility to systemic sclerosis in European Caucasians.	Wipff J et al.	2009	The Journal of rheumatology
20215856	Genetic association of angiogenesis- and hypoxia-related gene polymorphisms with osteonecrosis of the femoral head.	Hong JM et al.	2010	Experimental & molecular medicine
20230274	Polymorphisms in the ACE and ADRB2 genes and risks of aging-associated phenotypes: the case of myocardial infarction.	Kulminski AM et al.	2010	Rejuvenation research
20854388	Investigation of ACE, ACE2 and AGTR1 genes for association with nephropathy in Type 1 diabetes mellitus.	Currie D et al.	2010	Diabetic medicine
24586218	Pleiotropic effect of common variants at ABO Glycosyltranferase locus in 9q32 on plasma levels of pancreatic lipase and angiotensin converting enzyme.		2014	PloS one
25741868	Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.	Richards S et al.	2015	Genetics in medicine
26403748	[Association between angiotensin-converting enzyme gene polymorphism and Alzheimer's disease].	Deng J et al.	2015	Nan fang yi ke da xue xue bao = Journal of Southern Medical University
26436397	Correlation between single nucleotide polymorphisms in hypoxia-related genes and susceptibility to acute high-altitude pulmonary edema.	Wu AL et al.	2015	Genetics and molecular research
27425626	EDN1 Gene Variant is Associated with Neonatal Persistent Pulmonary Hypertension.	Mei M et al.	2016	Scientific reports
30254660	MS4A2-rs573790 Is Associated With Aspirin-Exacerbated Respiratory Disease: Replicative Study Using a Candidate Gene Strategy.	Pavón-Romero GF et al.	2018	Frontiers in genetics
34818351	Angiotensin-converting enzyme polymorphisms AND Alzheimer's disease susceptibility: An updated meta-analysis.	Xin XY et al.	2021	PloS one

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.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs4309