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dbSNP Short Genetic Variations

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.

rs4566614

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr4:162489647 (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=0.215675 (57087/264690, TOPMED)
C=0.220128 (30817/139996, GnomAD)
C=0.05064 (1431/28258, 14KJPN) (+ 15 more)
C=0.25056 (4456/17784, ALFA)
C=0.04940 (828/16760, 8.3KJPN)
C=0.1568 (1004/6404, 1000G_30x)
C=0.1587 (795/5008, 1000G)
C=0.2833 (1269/4480, Estonian)
C=0.2628 (1013/3854, ALSPAC)
C=0.2662 (987/3708, TWINSUK)
C=0.0625 (183/2930, KOREAN)
C=0.295 (294/998, GoNL)
C=0.328 (197/600, NorthernSweden)
C=0.157 (83/528, SGDP_PRJ)
C=0.282 (61/216, Qatari)
C=0.107 (23/214, Vietnamese)
C=0.16 (8/50, Siberian)
C=0.12 (5/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
None
Publications
0 citations
Genomic View
See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 17784 C=0.25056 G=0.00000, T=0.74944
European Sub 13694 C=0.27187 G=0.00000, T=0.72813
African Sub 2436 C=0.1404 G=0.0000, T=0.8596
African Others Sub 90 C=0.16 G=0.00, T=0.84
African American Sub 2346 C=0.1398 G=0.0000, T=0.8602
Asian Sub 112 C=0.080 G=0.000, T=0.920
East Asian Sub 86 C=0.06 G=0.00, T=0.94
Other Asian Sub 26 C=0.15 G=0.00, T=0.85
Latin American 1 Sub 146 C=0.205 G=0.000, T=0.795
Latin American 2 Sub 610 C=0.262 G=0.000, T=0.738
South Asian Sub 98 C=0.19 G=0.00, T=0.81
Other Sub 688 C=0.251 G=0.000, T=0.749


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=0.215675 T=0.784325
gnomAD - Genomes Global Study-wide 139996 C=0.220128 T=0.779872
gnomAD - Genomes European Sub 75838 C=0.26567 T=0.73433
gnomAD - Genomes African Sub 41940 C=0.14356 T=0.85644
gnomAD - Genomes American Sub 13626 C=0.23081 T=0.76919
gnomAD - Genomes Ashkenazi Jewish Sub 3316 C=0.2630 T=0.7370
gnomAD - Genomes East Asian Sub 3128 C=0.0515 T=0.9485
gnomAD - Genomes Other Sub 2148 C=0.2188 T=0.7812
14KJPN JAPANESE Study-wide 28258 C=0.05064 T=0.94936
Allele Frequency Aggregator Total Global 17784 C=0.25056 G=0.00000, T=0.74944
Allele Frequency Aggregator European Sub 13694 C=0.27187 G=0.00000, T=0.72813
Allele Frequency Aggregator African Sub 2436 C=0.1404 G=0.0000, T=0.8596
Allele Frequency Aggregator Other Sub 688 C=0.251 G=0.000, T=0.749
Allele Frequency Aggregator Latin American 2 Sub 610 C=0.262 G=0.000, T=0.738
Allele Frequency Aggregator Latin American 1 Sub 146 C=0.205 G=0.000, T=0.795
Allele Frequency Aggregator Asian Sub 112 C=0.080 G=0.000, T=0.920
Allele Frequency Aggregator South Asian Sub 98 C=0.19 G=0.00, T=0.81
8.3KJPN JAPANESE Study-wide 16760 C=0.04940 T=0.95060
1000Genomes_30x Global Study-wide 6404 C=0.1568 T=0.8432
1000Genomes_30x African Sub 1786 C=0.1025 T=0.8975
1000Genomes_30x Europe Sub 1266 C=0.2528 T=0.7472
1000Genomes_30x South Asian Sub 1202 C=0.1864 T=0.8136
1000Genomes_30x East Asian Sub 1170 C=0.0590 T=0.9410
1000Genomes_30x American Sub 980 C=0.212 T=0.788
1000Genomes Global Study-wide 5008 C=0.1587 T=0.8413
1000Genomes African Sub 1322 C=0.1021 T=0.8979
1000Genomes East Asian Sub 1008 C=0.0615 T=0.9385
1000Genomes Europe Sub 1006 C=0.2565 T=0.7435
1000Genomes South Asian Sub 978 C=0.197 T=0.803
1000Genomes American Sub 694 C=0.212 T=0.788
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.2833 T=0.7167
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.2628 T=0.7372
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.2662 T=0.7338
KOREAN population from KRGDB KOREAN Study-wide 2930 C=0.0625 A=0.0000, G=0.0000, T=0.9375
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.295 T=0.705
Northern Sweden ACPOP Study-wide 600 C=0.328 T=0.672
SGDP_PRJ Global Study-wide 528 C=0.157 T=0.843
Qatari Global Study-wide 216 C=0.282 T=0.718
A Vietnamese Genetic Variation Database Global Study-wide 214 C=0.107 T=0.893
Siberian Global Study-wide 50 C=0.16 T=0.84
The Danish reference pan genome Danish Study-wide 40 C=0.12 T=0.88
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 4 NC_000004.12:g.162489647C>A
GRCh38.p14 chr 4 NC_000004.12:g.162489647C>G
GRCh38.p14 chr 4 NC_000004.12:g.162489647C>T
GRCh37.p13 chr 4 NC_000004.11:g.163410799C>A
GRCh37.p13 chr 4 NC_000004.11:g.163410799C>G
GRCh37.p13 chr 4 NC_000004.11:g.163410799C>T
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.

Not Reported in ClinVar
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= A G T
GRCh38.p14 chr 4 NC_000004.12:g.162489647= NC_000004.12:g.162489647C>A NC_000004.12:g.162489647C>G NC_000004.12:g.162489647C>T
GRCh37.p13 chr 4 NC_000004.11:g.163410799= NC_000004.11:g.163410799C>A NC_000004.11:g.163410799C>G NC_000004.11:g.163410799C>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#.

72 SubSNP, 18 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_JCM ss6174753 Feb 20, 2003 (111)
2 BCM_SSAHASNP ss10141111 Jul 11, 2003 (126)
3 SC_JCM ss11235309 Jul 11, 2003 (126)
4 ABI ss42186257 Mar 11, 2006 (126)
5 HGSV ss78590520 Dec 06, 2007 (129)
6 HGSV ss81465129 Dec 14, 2007 (130)
7 BCMHGSC_JDW ss92861634 Mar 24, 2008 (129)
8 HUMANGENOME_JCVI ss99033324 Feb 04, 2009 (130)
9 BGI ss105880813 Feb 04, 2009 (130)
10 ENSEMBL ss135064229 Dec 01, 2009 (131)
11 ENSEMBL ss142469653 Dec 01, 2009 (131)
12 GMI ss154522682 Dec 01, 2009 (131)
13 COMPLETE_GENOMICS ss162734414 Jul 04, 2010 (132)
14 COMPLETE_GENOMICS ss164913779 Jul 04, 2010 (132)
15 COMPLETE_GENOMICS ss167373931 Jul 04, 2010 (132)
16 BUSHMAN ss199453318 Jul 04, 2010 (132)
17 BCM-HGSC-SUB ss206625468 Jul 04, 2010 (132)
18 GMI ss278023858 May 04, 2012 (137)
19 GMI ss285049409 Apr 25, 2013 (138)
20 PJP ss293241943 May 09, 2011 (134)
21 1000GENOMES ss332092904 May 09, 2011 (134)
22 TISHKOFF ss557997990 Apr 25, 2013 (138)
23 SSMP ss651821603 Apr 25, 2013 (138)
24 EVA-GONL ss980921345 Aug 21, 2014 (142)
25 JMKIDD_LAB ss1072140768 Aug 21, 2014 (142)
26 1000GENOMES ss1312729944 Aug 21, 2014 (142)
27 DDI ss1430127418 Apr 01, 2015 (144)
28 EVA_GENOME_DK ss1580872729 Apr 01, 2015 (144)
29 EVA_DECODE ss1590437675 Apr 01, 2015 (144)
30 EVA_UK10K_ALSPAC ss1611655728 Apr 01, 2015 (144)
31 EVA_UK10K_TWINSUK ss1654649761 Apr 01, 2015 (144)
32 HAMMER_LAB ss1802511816 Sep 08, 2015 (146)
33 WEILL_CORNELL_DGM ss1924161994 Feb 12, 2016 (147)
34 JJLAB ss2022669635 Sep 14, 2016 (149)
35 USC_VALOUEV ss2150801595 Dec 20, 2016 (150)
36 HUMAN_LONGEVITY ss2269030993 Dec 20, 2016 (150)
37 SYSTEMSBIOZJU ss2625829370 Nov 08, 2017 (151)
38 GRF ss2706303270 Nov 08, 2017 (151)
39 GNOMAD ss2817879725 Nov 08, 2017 (151)
40 SWEGEN ss2995925044 Nov 08, 2017 (151)
41 BIOINF_KMB_FNS_UNIBA ss3025113454 Nov 08, 2017 (151)
42 CSHL ss3346069788 Nov 08, 2017 (151)
43 URBANLAB ss3647903063 Oct 12, 2018 (152)
44 EGCUT_WGS ss3663839096 Jul 13, 2019 (153)
45 EVA_DECODE ss3713506824 Jul 13, 2019 (153)
46 ACPOP ss3731807996 Jul 13, 2019 (153)
47 EVA ss3762689672 Jul 13, 2019 (153)
48 PACBIO ss3784927191 Jul 13, 2019 (153)
49 PACBIO ss3790354013 Jul 13, 2019 (153)
50 PACBIO ss3795229630 Jul 13, 2019 (153)
51 KHV_HUMAN_GENOMES ss3805849638 Jul 13, 2019 (153)
52 EVA ss3828926288 Apr 26, 2020 (154)
53 EVA ss3837914550 Apr 26, 2020 (154)
54 EVA ss3843355478 Apr 26, 2020 (154)
55 SGDP_PRJ ss3860535787 Apr 26, 2020 (154)
56 KRGDB ss3906897571 Apr 26, 2020 (154)
57 TOPMED ss4639993993 Apr 26, 2021 (155)
58 TOMMO_GENOMICS ss5169038067 Apr 26, 2021 (155)
59 1000G_HIGH_COVERAGE ss5261822177 Oct 13, 2022 (156)
60 EVA ss5353760735 Oct 13, 2022 (156)
61 HUGCELL_USP ss5460293504 Oct 13, 2022 (156)
62 1000G_HIGH_COVERAGE ss5544351528 Oct 13, 2022 (156)
63 SANFORD_IMAGENETICS ss5624573000 Oct 13, 2022 (156)
64 SANFORD_IMAGENETICS ss5636561486 Oct 13, 2022 (156)
65 TOMMO_GENOMICS ss5704314984 Oct 13, 2022 (156)
66 YY_MCH ss5805737100 Oct 13, 2022 (156)
67 EVA ss5845029723 Oct 13, 2022 (156)
68 EVA ss5854541244 Oct 13, 2022 (156)
69 EVA ss5866417885 Oct 13, 2022 (156)
70 EVA ss5964970478 Oct 13, 2022 (156)
71 EVA ss5979720941 Oct 13, 2022 (156)
72 EVA ss5980260307 Oct 13, 2022 (156)
73 1000Genomes NC_000004.11 - 163410799 Oct 12, 2018 (152)
74 1000Genomes_30x NC_000004.12 - 162489647 Oct 13, 2022 (156)
75 The Avon Longitudinal Study of Parents and Children NC_000004.11 - 163410799 Oct 12, 2018 (152)
76 Genetic variation in the Estonian population NC_000004.11 - 163410799 Oct 12, 2018 (152)
77 The Danish reference pan genome NC_000004.11 - 163410799 Apr 26, 2020 (154)
78 gnomAD - Genomes NC_000004.12 - 162489647 Apr 26, 2021 (155)
79 Genome of the Netherlands Release 5 NC_000004.11 - 163410799 Apr 26, 2020 (154)
80 KOREAN population from KRGDB NC_000004.11 - 163410799 Apr 26, 2020 (154)
81 Northern Sweden NC_000004.11 - 163410799 Jul 13, 2019 (153)
82 Qatari NC_000004.11 - 163410799 Apr 26, 2020 (154)
83 SGDP_PRJ NC_000004.11 - 163410799 Apr 26, 2020 (154)
84 Siberian NC_000004.11 - 163410799 Apr 26, 2020 (154)
85 8.3KJPN NC_000004.11 - 163410799 Apr 26, 2021 (155)
86 14KJPN NC_000004.12 - 162489647 Oct 13, 2022 (156)
87 TopMed NC_000004.12 - 162489647 Apr 26, 2021 (155)
88 UK 10K study - Twins NC_000004.11 - 163410799 Oct 12, 2018 (152)
89 A Vietnamese Genetic Variation Database NC_000004.11 - 163410799 Jul 13, 2019 (153)
90 ALFA NC_000004.12 - 162489647 Apr 26, 2021 (155)
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)
rs6536657 Mar 11, 2006 (126)
rs57313020 May 23, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
14074965, ss3906897571 NC_000004.11:163410798:C:A NC_000004.12:162489646:C:A (self)
14074965, ss3906897571 NC_000004.11:163410798:C:G NC_000004.12:162489646:C:G (self)
5790825033 NC_000004.12:162489646:C:G NC_000004.12:162489646:C:G (self)
ss78590520, ss81465129 NC_000004.9:163768403:C:T NC_000004.12:162489646:C:T (self)
ss92861634, ss162734414, ss164913779, ss167373931, ss199453318, ss206625468, ss278023858, ss285049409, ss293241943, ss1590437675 NC_000004.10:163630248:C:T NC_000004.12:162489646:C:T (self)
24239894, 13483407, 9577344, 7037668, 5973165, 14074965, 5092861, 6203924, 12552767, 3317949, 27007374, 13483407, 2977133, ss332092904, ss557997990, ss651821603, ss980921345, ss1072140768, ss1312729944, ss1430127418, ss1580872729, ss1611655728, ss1654649761, ss1802511816, ss1924161994, ss2022669635, ss2150801595, ss2625829370, ss2706303270, ss2817879725, ss2995925044, ss3346069788, ss3663839096, ss3731807996, ss3762689672, ss3784927191, ss3790354013, ss3795229630, ss3828926288, ss3837914550, ss3860535787, ss3906897571, ss5169038067, ss5353760735, ss5624573000, ss5636561486, ss5845029723, ss5964970478, ss5979720941, ss5980260307 NC_000004.11:163410798:C:T NC_000004.12:162489646:C:T (self)
31877463, 171672995, 38152088, 477371549, 5790825033, ss2269030993, ss3025113454, ss3647903063, ss3713506824, ss3805849638, ss3843355478, ss4639993993, ss5261822177, ss5460293504, ss5544351528, ss5704314984, ss5805737100, ss5854541244, ss5866417885 NC_000004.12:162489646:C:T NC_000004.12:162489646:C:T (self)
ss6174753, ss42186257, ss99033324, ss105880813, ss135064229, ss142469653, ss154522682 NT_016354.19:87958519:C:T NC_000004.12:162489646:C:T (self)
ss10141111, ss11235309 NT_016606.15:24930463:C:T NC_000004.12:162489646: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.

No publications for rs4566614

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