Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs4316

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr17:63484948 (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>G / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.451898 (119613/264690, TOPMED)
T=0.494893 (110462/223204, GnomAD_exome)
T=0.447005 (62621/140090, GnomAD) (+ 23 more)
T=0.45523 (38478/84524, ALFA)
C=0.45647 (38148/83572, ExAC)
T=0.47667 (36902/77416, PAGE_STUDY)
C=0.34227 (9672/28258, 14KJPN)
C=0.34726 (5820/16760, 8.3KJPN)
T=0.42675 (5412/12682, GO-ESP)
C=0.4825 (3090/6404, 1000G_30x)
C=0.4808 (2408/5008, 1000G)
T=0.4951 (2218/4480, Estonian)
T=0.4556 (1756/3854, ALSPAC)
T=0.4701 (1743/3708, TWINSUK)
C=0.3781 (1107/2928, KOREAN)
T=0.474 (473/998, GoNL)
C=0.354 (279/788, PRJEB37584)
C=0.310 (190/612, Vietnamese)
T=0.475 (285/600, NorthernSweden)
T=0.082 (44/534, MGP)
C=0.252 (113/448, SGDP_PRJ)
T=0.494 (159/322, HapMap)
T=0.459 (133/290, FINRISK)
T=0.352 (76/216, Qatari)
C=0.22 (10/46, Siberian)
C=0.47 (19/40, GENOME_DK)
Clinical Significance
Reported in ClinVar
Gene : Consequence
ACE : Synonymous Variant
Publications
8 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 100866 C=0.546388 T=0.453612
European Sub 75606 C=0.54010 T=0.45990
African Sub 10592 C=0.60423 T=0.39577
African Others Sub 382 C=0.615 T=0.385
African American Sub 10210 C=0.60382 T=0.39618
Asian Sub 506 C=0.330 T=0.670
East Asian Sub 408 C=0.338 T=0.662
Other Asian Sub 98 C=0.30 T=0.70
Latin American 1 Sub 886 C=0.607 T=0.393
Latin American 2 Sub 928 C=0.466 T=0.534
South Asian Sub 178 C=0.466 T=0.534
Other Sub 12170 C=0.54700 T=0.45300


Help

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

Download
Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 C=0.548102 T=0.451898
gnomAD - Exomes Global Study-wide 223204 C=0.505107 T=0.494893
gnomAD - Exomes European Sub 119784 C=0.544497 T=0.455503
gnomAD - Exomes Asian Sub 43866 C=0.38877 T=0.61123
gnomAD - Exomes American Sub 31280 C=0.42685 T=0.57315
gnomAD - Exomes African Sub 13112 C=0.61928 T=0.38072
gnomAD - Exomes Ashkenazi Jewish Sub 9588 C=0.6286 T=0.3714
gnomAD - Exomes Other Sub 5574 C=0.5323 T=0.4677
gnomAD - Genomes Global Study-wide 140090 C=0.552995 T=0.447005
gnomAD - Genomes European Sub 75892 C=0.53896 T=0.46104
gnomAD - Genomes African Sub 41958 C=0.61068 T=0.38932
gnomAD - Genomes American Sub 13648 C=0.48483 T=0.51517
gnomAD - Genomes Ashkenazi Jewish Sub 3322 C=0.6234 T=0.3766
gnomAD - Genomes East Asian Sub 3120 C=0.3349 T=0.6651
gnomAD - Genomes Other Sub 2150 C=0.5628 T=0.4372
Allele Frequency Aggregator Total Global 84524 C=0.54477 T=0.45523
Allele Frequency Aggregator European Sub 65528 C=0.54104 T=0.45896
Allele Frequency Aggregator Other Sub 10740 C=0.54916 T=0.45084
Allele Frequency Aggregator African Sub 5758 C=0.6035 T=0.3965
Allele Frequency Aggregator Latin American 2 Sub 928 C=0.466 T=0.534
Allele Frequency Aggregator Latin American 1 Sub 886 C=0.607 T=0.393
Allele Frequency Aggregator Asian Sub 506 C=0.330 T=0.670
Allele Frequency Aggregator South Asian Sub 178 C=0.466 T=0.534
ExAC Global Study-wide 83572 C=0.45647 T=0.54353
ExAC Europe Sub 50222 C=0.49044 T=0.50956
ExAC Asian Sub 19200 C=0.36911 T=0.63089
ExAC American Sub 7120 C=0.3574 T=0.6426
ExAC African Sub 6406 C=0.5582 T=0.4418
ExAC Other Sub 624 C=0.495 T=0.505
The PAGE Study Global Study-wide 77416 C=0.52333 T=0.47667
The PAGE Study AfricanAmerican Sub 31928 C=0.61047 T=0.38953
The PAGE Study Mexican Sub 10652 C=0.44273 T=0.55727
The PAGE Study Asian Sub 8184 C=0.3602 T=0.6398
The PAGE Study PuertoRican Sub 7818 C=0.5751 T=0.4249
The PAGE Study NativeHawaiian Sub 4444 C=0.2835 T=0.7165
The PAGE Study Cuban Sub 4176 C=0.5929 T=0.4071
The PAGE Study Dominican Sub 3786 C=0.6083 T=0.3917
The PAGE Study CentralAmerican Sub 2418 C=0.4309 T=0.5691
The PAGE Study SouthAmerican Sub 1944 C=0.4146 T=0.5854
The PAGE Study NativeAmerican Sub 1234 C=0.5146 T=0.4854
The PAGE Study SouthAsian Sub 832 C=0.410 T=0.590
14KJPN JAPANESE Study-wide 28258 C=0.34227 T=0.65773
8.3KJPN JAPANESE Study-wide 16760 C=0.34726 T=0.65274
GO Exome Sequencing Project Global Study-wide 12682 C=0.57325 T=0.42675
GO Exome Sequencing Project European American Sub 8440 C=0.5517 T=0.4483
GO Exome Sequencing Project African American Sub 4242 C=0.6162 T=0.3838
1000Genomes_30x Global Study-wide 6404 C=0.4825 T=0.5175
1000Genomes_30x African Sub 1786 C=0.6260 T=0.3740
1000Genomes_30x Europe Sub 1266 C=0.5624 T=0.4376
1000Genomes_30x South Asian Sub 1202 C=0.3752 T=0.6248
1000Genomes_30x East Asian Sub 1170 C=0.3325 T=0.6675
1000Genomes_30x American Sub 980 C=0.429 T=0.571
1000Genomes Global Study-wide 5008 C=0.4808 T=0.5192
1000Genomes African Sub 1322 C=0.6248 T=0.3752
1000Genomes East Asian Sub 1008 C=0.3254 T=0.6746
1000Genomes Europe Sub 1006 C=0.5755 T=0.4245
1000Genomes South Asian Sub 978 C=0.379 T=0.621
1000Genomes American Sub 694 C=0.438 T=0.562
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.5049 T=0.4951
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.5444 T=0.4556
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.5299 T=0.4701
KOREAN population from KRGDB KOREAN Study-wide 2928 C=0.3781 G=0.0000, T=0.6219
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.526 T=0.474
CNV burdens in cranial meningiomas Global Study-wide 788 C=0.354 T=0.646
CNV burdens in cranial meningiomas CRM Sub 788 C=0.354 T=0.646
A Vietnamese Genetic Variation Database Global Study-wide 612 C=0.310 T=0.690
Northern Sweden ACPOP Study-wide 600 C=0.525 T=0.475
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 C=0.918 T=0.082
SGDP_PRJ Global Study-wide 448 C=0.252 T=0.748
HapMap Global Study-wide 322 C=0.506 T=0.494
HapMap African Sub 118 C=0.568 T=0.432
HapMap American Sub 116 C=0.491 T=0.509
HapMap Asian Sub 88 C=0.44 T=0.56
FINRISK Finnish from FINRISK project Study-wide 290 C=0.541 T=0.459
Qatari Global Study-wide 216 C=0.648 T=0.352
Siberian Global Study-wide 46 C=0.22 T=0.78
The Danish reference pan genome Danish Study-wide 40 C=0.47 T=0.53
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p14 chr 17 NC_000017.11:g.63484948C>G
GRCh38.p14 chr 17 NC_000017.11:g.63484948C>T
GRCh37.p13 chr 17 NC_000017.10:g.61562309C>G
GRCh37.p13 chr 17 NC_000017.10:g.61562309C>T
ACE RefSeqGene NG_011648.1:g.12876C>G
ACE RefSeqGene NG_011648.1:g.12876C>T
Gene: ACE, angiotensin I converting enzyme (plus strand)
Molecule type Change Amino acid[Codon] SO Term
ACE transcript variant 1 NM_000789.4:c.1922-288C>G N/A Intron Variant
ACE transcript variant 4 NM_001382700.1:c.1355-288…

NM_001382700.1:c.1355-288C>G

 		N/A Intron Variant
ACE transcript variant 5 NM_001382701.1:c.1070-288…

NM_001382701.1:c.1070-288C>G

 		N/A Intron Variant
ACE transcript variant 6 NM_001382702.1:c.-171= N/A 5 Prime UTR Variant
ACE transcript variant 2 NM_152830.3:c.81C>G P [CCC] > P [CCG] Coding Sequence Variant
angiotensin-converting enzyme isoform 2 precursor NP_690043.1:p.Pro27= P (Pro) > P (Pro) Synonymous Variant
ACE transcript variant 2 NM_152830.3:c.81C>T P [CCC] > P [CCT] Coding Sequence Variant
angiotensin-converting enzyme isoform 2 precursor NP_690043.1:p.Pro27= P (Pro) > P (Pro) Synonymous Variant
ACE transcript variant 3 NM_001178057.2:c.81C>G P [CCC] > P [CCG] Coding Sequence Variant
angiotensin-converting enzyme isoform 3 precursor NP_001171528.1:p.Pro27= P (Pro) > P (Pro) Synonymous Variant
ACE transcript variant 3 NM_001178057.2:c.81C>T P [CCC] > P [CCT] Coding Sequence Variant
angiotensin-converting enzyme isoform 3 precursor NP_001171528.1:p.Pro27= P (Pro) > P (Pro) Synonymous Variant
ACE transcript variant 7 NR_168483.1:n.103C>G N/A Non Coding Transcript Variant
ACE transcript variant 7 NR_168483.1:n.103C>T N/A Non Coding Transcript Variant
ACE transcript variant X1 XM_006721737.4:c.-171= N/A 5 Prime UTR Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Allele: T (allele ID: 1178996 )
ClinVar Accession Disease Names Clinical Significance
RCV001548830.2 Renal tubular dysgenesis Benign
RCV001694086.1 not provided Benign
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement C= G T
GRCh38.p14 chr 17 NC_000017.11:g.63484948= NC_000017.11:g.63484948C>G NC_000017.11:g.63484948C>T
GRCh37.p13 chr 17 NC_000017.10:g.61562309= NC_000017.10:g.61562309C>G NC_000017.10:g.61562309C>T
ACE RefSeqGene NG_011648.1:g.12876= NG_011648.1:g.12876C>G NG_011648.1:g.12876C>T
ACE transcript variant 2 NM_152830.3:c.81= NM_152830.3:c.81C>G NM_152830.3:c.81C>T
ACE transcript variant 2 NM_152830.2:c.81= NM_152830.2:c.81C>G NM_152830.2:c.81C>T
ACE transcript variant 3 NM_001178057.2:c.81= NM_001178057.2:c.81C>G NM_001178057.2:c.81C>T
ACE transcript variant 3 NM_001178057.1:c.81= NM_001178057.1:c.81C>G NM_001178057.1:c.81C>T
ACE transcript variant 7 NR_168483.1:n.103= NR_168483.1:n.103C>G NR_168483.1:n.103C>T
ACE transcript variant 6 NM_001382702.1:c.-171= NM_001382702.1:c.-171C>G NM_001382702.1:c.-171C>T
ACE transcript variant X1 XM_006721737.4:c.-171= XM_006721737.4:c.-171C>G XM_006721737.4:c.-171C>T
ACE transcript variant X1 XM_006721737.3:c.238= XM_006721737.3:c.238C>G XM_006721737.3:c.238C>T
ACE transcript variant X2 XM_006721737.2:c.238= XM_006721737.2:c.238C>G XM_006721737.2:c.238C>T
ACE transcript variant X2 XM_006721737.1:c.-171= XM_006721737.1:c.-171C>G XM_006721737.1:c.-171C>T
ACE transcript variant 3 NM_152831.1:c.81= NM_152831.1:c.81C>G NM_152831.1:c.81C>T
angiotensin-converting enzyme isoform 2 precursor NP_690043.1:p.Pro27= NP_690043.1:p.Pro27= NP_690043.1:p.Pro27=
angiotensin-converting enzyme isoform 3 precursor NP_001171528.1:p.Pro27= NP_001171528.1:p.Pro27= NP_001171528.1:p.Pro27=
ACE transcript variant 1 NM_000789.3:c.1922-288= NM_000789.3:c.1922-288C>G NM_000789.3:c.1922-288C>T
ACE transcript variant 1 NM_000789.4:c.1922-288= NM_000789.4:c.1922-288C>G NM_000789.4:c.1922-288C>T
ACE transcript variant 4 NM_001382700.1:c.1355-288= NM_001382700.1:c.1355-288C>G NM_001382700.1:c.1355-288C>T
ACE transcript variant 5 NM_001382701.1:c.1070-288= NM_001382701.1:c.1070-288C>G NM_001382701.1:c.1070-288C>T
ACE transcript variant X1 XM_005257110.1:c.1373-288= XM_005257110.1:c.1373-288C>G XM_005257110.1:c.1373-288C>T
Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

122 SubSNP, 26 Frequency, 2 ClinVar submissions
No Submitter Submission ID Date (Build)
1 DEBNICK ss4705 Sep 19, 2000 (36)
2 ARAVINDA ss6406 Sep 19, 2000 (52)
3 YUSUKE ss2990973 Jun 15, 2001 (96)
4 WI_SSAHASNP ss6876800 Feb 20, 2003 (111)
5 CSHL-HAPMAP ss19371758 Feb 27, 2004 (120)
6 MGC_GENOME_DIFF ss28507904 Sep 24, 2004 (126)
7 ABI ss44017444 Mar 10, 2006 (126)
8 HGSV ss78101319 Dec 07, 2007 (129)
9 KRIBB_YJKIM ss80728652 Dec 16, 2007 (130)
10 BCMHGSC_JDW ss90633997 Mar 24, 2008 (129)
11 BGI ss103355552 Dec 01, 2009 (131)
12 1000GENOMES ss109855867 Jan 24, 2009 (130)
13 1000GENOMES ss113710566 Jan 25, 2009 (130)
14 ILLUMINA-UK ss118097349 Feb 14, 2009 (130)
15 ENSEMBL ss137142113 Dec 01, 2009 (131)
16 GMI ss154530247 Dec 01, 2009 (131)
17 ILLUMINA ss160672079 Dec 01, 2009 (131)
18 ENSEMBL ss161836202 Dec 01, 2009 (131)
19 COMPLETE_GENOMICS ss169972662 Jul 04, 2010 (132)
20 COMPLETE_GENOMICS ss171608668 Jul 04, 2010 (132)
21 BUSHMAN ss202677854 Jul 04, 2010 (132)
22 BCM-HGSC-SUB ss208006551 Jul 04, 2010 (132)
23 1000GENOMES ss227611667 Jul 14, 2010 (132)
24 1000GENOMES ss237290874 Jul 15, 2010 (132)
25 1000GENOMES ss243576148 Jul 15, 2010 (132)
26 BL ss255726597 May 09, 2011 (134)
27 GMI ss282810976 May 04, 2012 (137)
28 PJP ss291978332 May 09, 2011 (134)
29 ILLUMINA ss481902914 Sep 08, 2015 (146)
30 ILLUMINA ss483137724 May 04, 2012 (137)
31 ILLUMINA ss483651739 May 04, 2012 (137)
32 1000GENOMES ss491129089 May 04, 2012 (137)
33 EXOME_CHIP ss491526057 May 04, 2012 (137)
34 CLINSEQ_SNP ss491741127 May 04, 2012 (137)
35 ILLUMINA ss535360177 Sep 08, 2015 (146)
36 TISHKOFF ss565353339 Apr 25, 2013 (138)
37 SSMP ss661164641 Apr 25, 2013 (138)
38 NHLBI-ESP ss713402590 Apr 25, 2013 (138)
39 ILLUMINA ss779498666 Sep 08, 2015 (146)
40 ILLUMINA ss782012215 Sep 08, 2015 (146)
41 ILLUMINA ss834968876 Sep 08, 2015 (146)
42 JMKIDD_LAB ss974499796 Aug 21, 2014 (142)
43 EVA-GONL ss993247535 Aug 21, 2014 (142)
44 JMKIDD_LAB ss1067573769 Aug 21, 2014 (142)
45 JMKIDD_LAB ss1081153486 Aug 21, 2014 (142)
46 1000GENOMES ss1359206839 Aug 21, 2014 (142)
47 DDI ss1428072208 Apr 01, 2015 (144)
48 EVA_GENOME_DK ss1578209879 Apr 01, 2015 (144)
49 EVA_FINRISK ss1584107793 Apr 01, 2015 (144)
50 EVA_UK10K_ALSPAC ss1635930943 Apr 01, 2015 (144)
51 EVA_UK10K_TWINSUK ss1678924976 Apr 01, 2015 (144)
52 EVA_EXAC ss1692905039 Apr 01, 2015 (144)
53 EVA_DECODE ss1697295064 Apr 01, 2015 (144)
54 EVA_MGP ss1711468523 Apr 01, 2015 (144)
55 HAMMER_LAB ss1808841462 Sep 08, 2015 (146)
56 WEILL_CORNELL_DGM ss1936707377 Feb 12, 2016 (147)
57 ILLUMINA ss1959760344 Feb 12, 2016 (147)
58 GENOMED ss1968416595 Jul 19, 2016 (147)
59 JJLAB ss2029126777 Sep 14, 2016 (149)
60 USC_VALOUEV ss2157607682 Dec 20, 2016 (150)
61 HUMAN_LONGEVITY ss2217954546 Dec 20, 2016 (150)
62 SYSTEMSBIOZJU ss2629057766 Nov 08, 2017 (151)
63 ILLUMINA ss2633412895 Nov 08, 2017 (151)
64 GRF ss2702170315 Nov 08, 2017 (151)
65 GNOMAD ss2742915720 Nov 08, 2017 (151)
66 GNOMAD ss2749834186 Nov 08, 2017 (151)
67 GNOMAD ss2951511639 Nov 08, 2017 (151)
68 SWEGEN ss3015764904 Nov 08, 2017 (151)
69 ILLUMINA ss3021795191 Nov 08, 2017 (151)
70 EVA_SAMSUNG_MC ss3023070843 Nov 08, 2017 (151)
71 BIOINF_KMB_FNS_UNIBA ss3028385038 Nov 08, 2017 (151)
72 CSIRBIOHTS ss3029638572 Nov 08, 2017 (151)
73 CSHL ss3351801197 Nov 08, 2017 (151)
74 ILLUMINA ss3627701070 Oct 12, 2018 (152)
75 ILLUMINA ss3631392958 Oct 12, 2018 (152)
76 ILLUMINA ss3636371617 Oct 12, 2018 (152)
77 OMUKHERJEE_ADBS ss3646514771 Oct 12, 2018 (152)
78 ILLUMINA ss3652212706 Oct 12, 2018 (152)
79 EGCUT_WGS ss3682636991 Jul 13, 2019 (153)
80 EVA_DECODE ss3700743213 Jul 13, 2019 (153)
81 ACPOP ss3742142362 Jul 13, 2019 (153)
82 EVA ss3754829748 Jul 13, 2019 (153)
83 PAGE_CC ss3771938303 Jul 13, 2019 (153)
84 KHV_HUMAN_GENOMES ss3820094439 Jul 13, 2019 (153)
85 EVA ss3825139544 Apr 27, 2020 (154)
86 EVA ss3825531638 Apr 27, 2020 (154)
87 EVA ss3825546332 Apr 27, 2020 (154)
88 EVA ss3825904394 Apr 27, 2020 (154)
89 EVA ss3834934579 Apr 27, 2020 (154)
90 EVA ss3841079497 Apr 27, 2020 (154)
91 EVA ss3846576957 Apr 27, 2020 (154)
92 SGDP_PRJ ss3886037950 Apr 27, 2020 (154)
93 KRGDB ss3935784556 Apr 27, 2020 (154)
94 FSA-LAB ss3984120683 Apr 26, 2021 (155)
95 EVA ss3984725242 Apr 26, 2021 (155)
96 EVA ss3986075467 Apr 26, 2021 (155)
97 EVA ss3986736483 Apr 26, 2021 (155)
98 TOPMED ss5040937813 Apr 26, 2021 (155)
99 TOMMO_GENOMICS ss5223082760 Apr 26, 2021 (155)
100 EVA ss5236945268 Apr 26, 2021 (155)
101 EVA ss5237669554 Oct 16, 2022 (156)
102 1000G_HIGH_COVERAGE ss5303628711 Oct 16, 2022 (156)
103 TRAN_CS_UWATERLOO ss5314448875 Oct 16, 2022 (156)
104 EVA ss5315895617 Oct 16, 2022 (156)
105 EVA ss5428486610 Oct 16, 2022 (156)
106 HUGCELL_USP ss5496622643 Oct 16, 2022 (156)
107 EVA ss5511805244 Oct 16, 2022 (156)
108 1000G_HIGH_COVERAGE ss5607591781 Oct 16, 2022 (156)
109 EVA ss5624074761 Oct 16, 2022 (156)
110 SANFORD_IMAGENETICS ss5660375115 Oct 16, 2022 (156)
111 TOMMO_GENOMICS ss5779500336 Oct 16, 2022 (156)
112 EVA ss5799459508 Oct 16, 2022 (156)
113 EVA ss5800210515 Oct 16, 2022 (156)
114 YY_MCH ss5816654712 Oct 16, 2022 (156)
115 EVA ss5834171605 Oct 16, 2022 (156)
116 EVA ss5848455172 Oct 16, 2022 (156)
117 EVA ss5851859725 Oct 16, 2022 (156)
118 EVA ss5914485547 Oct 16, 2022 (156)
119 EVA ss5936568545 Oct 16, 2022 (156)
120 EVA ss5951770538 Oct 16, 2022 (156)
121 EVA ss5980976604 Oct 16, 2022 (156)
122 EVA ss5981302915 Oct 16, 2022 (156)
123 1000Genomes NC_000017.10 - 61562309 Oct 12, 2018 (152)
124 1000Genomes_30x NC_000017.11 - 63484948 Oct 16, 2022 (156)
125 The Avon Longitudinal Study of Parents and Children NC_000017.10 - 61562309 Oct 12, 2018 (152)
126 Genetic variation in the Estonian population NC_000017.10 - 61562309 Oct 12, 2018 (152)
127 ExAC NC_000017.10 - 61562309 Oct 12, 2018 (152)
128 FINRISK NC_000017.10 - 61562309 Apr 27, 2020 (154)
129 The Danish reference pan genome NC_000017.10 - 61562309 Apr 27, 2020 (154)
130 gnomAD - Genomes NC_000017.11 - 63484948 Apr 26, 2021 (155)
131 gnomAD - Exomes NC_000017.10 - 61562309 Jul 13, 2019 (153)
132 GO Exome Sequencing Project NC_000017.10 - 61562309 Oct 12, 2018 (152)
133 Genome of the Netherlands Release 5 NC_000017.10 - 61562309 Apr 27, 2020 (154)
134 HapMap NC_000017.11 - 63484948 Apr 27, 2020 (154)
135 KOREAN population from KRGDB NC_000017.10 - 61562309 Apr 27, 2020 (154)
136 Medical Genome Project healthy controls from Spanish population NC_000017.10 - 61562309 Apr 27, 2020 (154)
137 Northern Sweden NC_000017.10 - 61562309 Jul 13, 2019 (153)
138 The PAGE Study NC_000017.11 - 63484948 Jul 13, 2019 (153)
139 CNV burdens in cranial meningiomas NC_000017.10 - 61562309 Apr 26, 2021 (155)
140 Qatari NC_000017.10 - 61562309 Apr 27, 2020 (154)
141 SGDP_PRJ NC_000017.10 - 61562309 Apr 27, 2020 (154)
142 Siberian NC_000017.10 - 61562309 Apr 27, 2020 (154)
143 8.3KJPN NC_000017.10 - 61562309 Apr 26, 2021 (155)
144 14KJPN NC_000017.11 - 63484948 Oct 16, 2022 (156)
145 TopMed NC_000017.11 - 63484948 Apr 26, 2021 (155)
146 UK 10K study - Twins NC_000017.10 - 61562309 Oct 12, 2018 (152)
147 A Vietnamese Genetic Variation Database NC_000017.10 - 61562309 Jul 13, 2019 (153)
148 ALFA NC_000017.11 - 63484948 Apr 26, 2021 (155)
149 ClinVar RCV001548830.2 Oct 16, 2022 (156)
150 ClinVar RCV001694086.1 Oct 16, 2022 (156)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID History Updated (Build)
rs17853602 Mar 10, 2006 (126)
rs61333954 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
42961950, ss3935784556 NC_000017.10:61562308:C:G NC_000017.11:63484947:C:G (self)
ss78101319, ss90633997, ss109855867, ss113710566, ss118097349, ss169972662, ss171608668, ss202677854, ss208006551, ss255726597, ss282810976, ss291978332, ss483651739, ss491741127, ss1697295064 NC_000017.9:58916040:C:T NC_000017.11:63484947:C:T (self)
72469922, 40157800, 28375239, 3357888, 104254, 4410074, 12220972, 1596604, 17893418, 42961950, 584283, 15427227, 274790, 18749299, 38054930, 10124036, 81052067, 40157800, 8878327, ss227611667, ss237290874, ss243576148, ss481902914, ss483137724, ss491129089, ss491526057, ss535360177, ss565353339, ss661164641, ss713402590, ss779498666, ss782012215, ss834968876, ss974499796, ss993247535, ss1067573769, ss1081153486, ss1359206839, ss1428072208, ss1578209879, ss1584107793, ss1635930943, ss1678924976, ss1692905039, ss1711468523, ss1808841462, ss1936707377, ss1959760344, ss1968416595, ss2029126777, ss2157607682, ss2629057766, ss2633412895, ss2702170315, ss2742915720, ss2749834186, ss2951511639, ss3015764904, ss3021795191, ss3023070843, ss3029638572, ss3351801197, ss3627701070, ss3631392958, ss3636371617, ss3646514771, ss3652212706, ss3682636991, ss3742142362, ss3754829748, ss3825139544, ss3825531638, ss3825546332, ss3825904394, ss3834934579, ss3841079497, ss3886037950, ss3935784556, ss3984120683, ss3984725242, ss3986075467, ss3986736483, ss5223082760, ss5315895617, ss5428486610, ss5511805244, ss5624074761, ss5660375115, ss5799459508, ss5800210515, ss5834171605, ss5848455172, ss5936568545, ss5951770538, ss5980976604, ss5981302915 NC_000017.10:61562308:C:T NC_000017.11:63484947:C:T (self)
RCV001548830.2, RCV001694086.1, 95117716, 511420222, 1511707, 1159772, 113337440, 256483475, 12552389791, ss2217954546, ss3028385038, ss3700743213, ss3771938303, ss3820094439, ss3846576957, ss5040937813, ss5236945268, ss5237669554, ss5303628711, ss5314448875, ss5496622643, ss5607591781, ss5779500336, ss5816654712, ss5851859725, ss5914485547 NC_000017.11:63484947:C:T NC_000017.11:63484947:C:T (self)
ss19371758 NT_010783.14:20214319:C:T NC_000017.11:63484947:C:T (self)
ss4705, ss6406, ss2990973, ss6876800, ss28507904, ss44017444, ss80728652, ss103355552, ss137142113, ss154530247, ss160672079, ss161836202 NT_010783.15:26836460:C:T NC_000017.11:63484947:C:T (self)
Help

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

8 citations for rs4316
PMID Title Author Year Journal
12733698 An alternative fast and convenient genotyping method for the screening of angiotensin converting enzyme gene polymorphisms. Tanaka C et al. 2003 Hypertension research
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
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
24658007 Variation in genes that regulate blood pressure are associated with glomerular filtration rate in Chinese. Montasser ME et al. 2014 PloS one
27425626 EDN1 Gene Variant is Associated with Neonatal Persistent Pulmonary Hypertension. Mei M et al. 2016 Scientific reports
31198195 Association Between Polymorphisms in the Angiotensin-Converting Enzyme Gene and Non-Obstructive Azoospermia in the Chinese Han Population from Northeast China. Wang R et al. 2019 Medical science monitor
33815092 Genetic Variability in Molecular Pathways Implicated in Alzheimer's Disease: A Comprehensive Review. Vogrinc D et al. 2021 Frontiers in aging neuroscience
35836993 Novel Functional eQTL-SNPs Associated With Susceptibility to Mycoplasma pneumoniae Pneumonia in Children. Dong Y et al. 2022 Frontiers in public health
Help

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

Genome context:
Select flank length:

Genomic regions, transcripts, and products
Top▲ Help

NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post761+d5e8e07