Name: rs52820871
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.

rs52820871

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr18:60371599 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
Alleles: T>G
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.006283 (1663/264690, TOPMED)
G=0.006923 (1740/251350, GnomAD_exome)
G=0.010292 (2048/198994, ALFA) (+ 15 more)
G=0.007740 (1085/140182, GnomAD)
G=0.006838 (830/121374, ExAC)
G=0.00390 (307/78696, PAGE_STUDY)
G=0.00884 (115/13006, GO-ESP)
G=0.0022 (14/6404, 1000G_30x)
G=0.0026 (13/5008, 1000G)
G=0.0056 (25/4480, Estonian)
G=0.0109 (42/3854, ALSPAC)
G=0.0148 (55/3708, TWINSUK)
G=0.0043 (14/3290, PRJNA289433)
G=0.012 (12/998, GoNL)
G=0.003 (2/600, NorthernSweden)
G=0.024 (13/534, MGP)
G=0.020 (6/304, FINRISK)
G=0.07 (3/40, GENOME_DK)

Clinical Significance: Reported in ClinVar
Gene : Consequence: MC4R : Missense Variant
Publications: 11 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	215400	T=0.989870	G=0.010130	0.979935	0.000195	0.01987	5
European	Sub	179674	T=0.988852	G=0.011148	0.977927	0.000223	0.021851	4
African	Sub	9524	T=0.9980	G=0.0020	0.99601	0.0	0.00399	0
African Others	Sub	352	T=1.000	G=0.000	1.0	0.0	0.0	N/A
African American	Sub	9172	T=0.9979	G=0.0021	0.995857	0.0	0.004143	0
Asian	Sub	6320	T=0.9998	G=0.0002	0.999684	0.0	0.000316	0
East Asian	Sub	4496	T=0.9998	G=0.0002	0.999555	0.0	0.000445	0
Other Asian	Sub	1824	T=1.0000	G=0.0000	1.0	0.0	0.0	N/A
Latin American 1	Sub	820	T=0.994	G=0.006	0.987805	0.0	0.012195	0
Latin American 2	Sub	1008	T=0.9960	G=0.0040	0.992063	0.0	0.007937	0
South Asian	Sub	296	T=0.997	G=0.003	0.993243	0.0	0.006757	0
Other	Sub	17758	T=0.99161	G=0.00839	0.983331	0.000113	0.016556	0

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	T=0.993717	G=0.006283
gnomAD - Exomes	Global	Study-wide	251350	T=0.993077	G=0.006923
gnomAD - Exomes	European	Sub	135298	T=0.989165	G=0.010835
gnomAD - Exomes	Asian	Sub	49000	T=0.99882	G=0.00118
gnomAD - Exomes	American	Sub	34586	T=0.99598	G=0.00402
gnomAD - Exomes	African	Sub	16256	T=0.99809	G=0.00191
gnomAD - Exomes	Ashkenazi Jewish	Sub	10074	T=0.99881	G=0.00119
gnomAD - Exomes	Other	Sub	6136	T=0.9945	G=0.0055
Allele Frequency Aggregator	Total	Global	198994	T=0.989708	G=0.010292
Allele Frequency Aggregator	European	Sub	169538	T=0.988846	G=0.011154
Allele Frequency Aggregator	Other	Sub	16326	T=0.99155	G=0.00845
Allele Frequency Aggregator	Asian	Sub	6320	T=0.9998	G=0.0002
Allele Frequency Aggregator	African	Sub	4686	T=0.9983	G=0.0017
Allele Frequency Aggregator	Latin American 2	Sub	1008	T=0.9960	G=0.0040
Allele Frequency Aggregator	Latin American 1	Sub	820	T=0.994	G=0.006
Allele Frequency Aggregator	South Asian	Sub	296	T=0.997	G=0.003
gnomAD - Genomes	Global	Study-wide	140182	T=0.992260	G=0.007740
gnomAD - Genomes	European	Sub	75912	T=0.98867	G=0.01133
gnomAD - Genomes	African	Sub	42014	T=0.99757	G=0.00243
gnomAD - Genomes	American	Sub	13654	T=0.99231	G=0.00769
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	T=0.9988	G=0.0012
gnomAD - Genomes	East Asian	Sub	3130	T=1.0000	G=0.0000
gnomAD - Genomes	Other	Sub	2152	T=0.9935	G=0.0065
ExAC	Global	Study-wide	121374	T=0.993162	G=0.006838
ExAC	Europe	Sub	73328	T=0.98995	G=0.01005
ExAC	Asian	Sub	25160	T=0.99869	G=0.00131
ExAC	American	Sub	11574	T=0.99680	G=0.00320
ExAC	African	Sub	10406	T=0.99808	G=0.00192
ExAC	Other	Sub	906	T=0.997	G=0.003
The PAGE Study	Global	Study-wide	78696	T=0.99610	G=0.00390
The PAGE Study	AfricanAmerican	Sub	32514	T=0.99732	G=0.00268
The PAGE Study	Mexican	Sub	10808	T=0.99574	G=0.00426
The PAGE Study	Asian	Sub	8318	T=0.9996	G=0.0004
The PAGE Study	PuertoRican	Sub	7918	T=0.9920	G=0.0080
The PAGE Study	NativeHawaiian	Sub	4534	T=0.9974	G=0.0026
The PAGE Study	Cuban	Sub	4230	T=0.9929	G=0.0071
The PAGE Study	Dominican	Sub	3828	T=0.9940	G=0.0060
The PAGE Study	CentralAmerican	Sub	2450	T=0.9947	G=0.0053
The PAGE Study	SouthAmerican	Sub	1980	T=0.9939	G=0.0061
The PAGE Study	NativeAmerican	Sub	1260	T=0.9881	G=0.0119
The PAGE Study	SouthAsian	Sub	856	T=0.996	G=0.004
GO Exome Sequencing Project	Global	Study-wide	13006	T=0.99116	G=0.00884
GO Exome Sequencing Project	European American	Sub	8600	T=0.9884	G=0.0116
GO Exome Sequencing Project	African American	Sub	4406	T=0.9966	G=0.0034
1000Genomes_30x	Global	Study-wide	6404	T=0.9978	G=0.0022
1000Genomes_30x	African	Sub	1786	T=1.0000	G=0.0000
1000Genomes_30x	Europe	Sub	1266	T=0.9921	G=0.0079
1000Genomes_30x	South Asian	Sub	1202	T=0.9992	G=0.0008
1000Genomes_30x	East Asian	Sub	1170	T=1.0000	G=0.0000
1000Genomes_30x	American	Sub	980	T=0.997	G=0.003
1000Genomes	Global	Study-wide	5008	T=0.9974	G=0.0026
1000Genomes	African	Sub	1322	T=1.0000	G=0.0000
1000Genomes	East Asian	Sub	1008	T=1.0000	G=0.0000
1000Genomes	Europe	Sub	1006	T=0.9911	G=0.0089
1000Genomes	South Asian	Sub	978	T=0.999	G=0.001
1000Genomes	American	Sub	694	T=0.996	G=0.004
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.9944	G=0.0056
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.9891	G=0.0109
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.9852	G=0.0148
MxGDAR/Encodat-PGx	Global	Study-wide	3290	T=0.9957	G=0.0043
MxGDAR/Encodat-PGx	MxGDAR	Sub	3290	T=0.9957	G=0.0043
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.988	G=0.012
Northern Sweden	ACPOP	Study-wide	600	T=0.997	G=0.003
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	T=0.976	G=0.024
FINRISK	Finnish from FINRISK project	Study-wide	304	T=0.980	G=0.020
The Danish reference pan genome	Danish	Study-wide	40	T=0.93	G=0.07

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 18	NC_000018.10:g.60371599T>G
GRCh37.p13 chr 18	NC_000018.9:g.58038832T>G
MC4R RefSeqGene (LRG_1346)	NG_016441.1:g.6170A>C

Gene: MC4R, melanocortin 4 receptor (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
MC4R transcript	NM_005912.3:c.751A>C	I [ATT] > L [CTT]	Coding Sequence Variant
melanocortin receptor 4	NP_005903.2:p.Ile251Leu	I (Ile) > L (Leu)	Missense Variant

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

Allele: G (allele ID: 215036 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000202590.8	Obesity	Likely-Benign
RCV000419291.8	not provided	Benign-Likely-Benign
RCV000445524.5	Monogenic diabetes	Benign
RCV000501342.7	not specified	Likely-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	T=	G
GRCh38.p14 chr 18	NC_000018.10:g.60371599=	NC_000018.10:g.60371599T>G
GRCh37.p13 chr 18	NC_000018.9:g.58038832=	NC_000018.9:g.58038832T>G
MC4R RefSeqGene (LRG_1346)	NG_016441.1:g.6170=	NG_016441.1:g.6170A>C
MC4R transcript	NM_005912.3:c.751=	NM_005912.3:c.751A>C
MC4R transcript	NM_005912.2:c.751=	NM_005912.2:c.751A>C
melanocortin receptor 4	NP_005903.2:p.Ile251=	NP_005903.2:p.Ile251Leu

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#.

68 SubSNP, 18 Frequency, 4 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	AFFY	ss74817933	Aug 16, 2007 (128)
2	ILLUMINA	ss161062445	Dec 01, 2009 (131)
3	1000GENOMES	ss237502990	Jul 15, 2010 (132)
4	NHLBI-ESP	ss342475815	May 09, 2011 (134)
5	ILLUMINA	ss410826712	Sep 17, 2011 (135)
6	ILLUMINA	ss479444584	Sep 08, 2015 (146)
7	1000GENOMES	ss491141021	May 04, 2012 (137)
8	EXOME_CHIP	ss491533998	May 04, 2012 (137)
9	CLINSEQ_SNP	ss491751065	May 04, 2012 (137)
10	ILLUMINA	ss536234989	Sep 08, 2015 (146)
11	ILLUMINA	ss780737056	Sep 08, 2015 (146)
12	ILLUMINA	ss783413883	Sep 08, 2015 (146)
13	EVA-GONL	ss993824733	Aug 21, 2014 (142)
14	1000GENOMES	ss1361389711	Aug 21, 2014 (142)
15	EVA_GENOME_DK	ss1578443285	Apr 01, 2015 (144)
16	EVA_FINRISK	ss1584111391	Apr 01, 2015 (144)
17	EVA_UK10K_ALSPAC	ss1637075330	Apr 01, 2015 (144)
18	EVA_UK10K_TWINSUK	ss1680069363	Apr 01, 2015 (144)
19	EVA_EXAC	ss1693168114	Apr 01, 2015 (144)
20	EVA_DECODE	ss1697886694	Apr 01, 2015 (144)
21	EVA_MGP	ss1711487866	Apr 01, 2015 (144)
22	ILLUMINA	ss1752262220	Sep 08, 2015 (146)
23	ILLUMINA	ss1917927937	Feb 12, 2016 (147)
24	ILLUMINA	ss1946507580	Feb 12, 2016 (147)
25	ILLUMINA	ss1959811357	Feb 12, 2016 (147)
26	HUMAN_LONGEVITY	ss2222329216	Dec 20, 2016 (150)
27	GNOMAD	ss2743324921	Nov 08, 2017 (151)
28	GNOMAD	ss2749967143	Nov 08, 2017 (151)
29	GNOMAD	ss2957712332	Nov 08, 2017 (151)
30	AFFY	ss2985120232	Nov 08, 2017 (151)
31	SWEGEN	ss3016675219	Nov 08, 2017 (151)
32	ILLUMINA	ss3021851182	Nov 08, 2017 (151)
33	ILLUMINA	ss3627830451	Oct 12, 2018 (152)
34	ILLUMINA	ss3627830452	Oct 12, 2018 (152)
35	ILLUMINA	ss3634710107	Oct 12, 2018 (152)
36	ILLUMINA	ss3636400215	Oct 12, 2018 (152)
37	ILLUMINA	ss3640417415	Oct 12, 2018 (152)
38	ILLUMINA	ss3644707919	Oct 12, 2018 (152)
39	ILLUMINA	ss3652273708	Oct 12, 2018 (152)
40	ILLUMINA	ss3653892391	Oct 12, 2018 (152)
41	EGCUT_WGS	ss3683522864	Jul 13, 2019 (153)
42	EVA_DECODE	ss3701841214	Jul 13, 2019 (153)
43	ILLUMINA	ss3725683934	Jul 13, 2019 (153)
44	ACPOP	ss3742624186	Jul 13, 2019 (153)
45	ILLUMINA	ss3744454830	Jul 13, 2019 (153)
46	ILLUMINA	ss3745010237	Jul 13, 2019 (153)
47	PAGE_CC	ss3771977469	Jul 13, 2019 (153)
48	ILLUMINA	ss3772507691	Jul 13, 2019 (153)
49	EVA	ss3825196495	Apr 27, 2020 (154)
50	EVA	ss3825916977	Apr 27, 2020 (154)
51	EVA	ss3835216656	Apr 27, 2020 (154)
52	NORTHRUP_AU	ss3983909394	Apr 26, 2021 (155)
53	FSA-LAB	ss3984134034	Apr 26, 2021 (155)
54	EVA	ss3984450377	Apr 26, 2021 (155)
55	EVA	ss3986760206	Apr 26, 2021 (155)
56	TOPMED	ss5059911130	Apr 26, 2021 (155)
57	EVA	ss5237670872	Oct 16, 2022 (156)
58	1000G_HIGH_COVERAGE	ss5305609681	Oct 16, 2022 (156)
59	EVA	ss5432006064	Oct 16, 2022 (156)
60	HUGCELL_USP	ss5498347686	Oct 16, 2022 (156)
61	1000G_HIGH_COVERAGE	ss5610613350	Oct 16, 2022 (156)
62	SANFORD_IMAGENETICS	ss5661475187	Oct 16, 2022 (156)
63	EVA	ss5827671302	Oct 16, 2022 (156)
64	EVA	ss5847824513	Oct 16, 2022 (156)
65	EVA	ss5848469857	Oct 16, 2022 (156)
66	EVA	ss5874453515	Oct 16, 2022 (156)
67	EVA	ss5936570609	Oct 16, 2022 (156)
68	EVA	ss5952902360	Oct 16, 2022 (156)
69	1000Genomes	NC_000018.9 - 58038832	Oct 12, 2018 (152)
70	1000Genomes_30x	NC_000018.10 - 60371599	Oct 16, 2022 (156)
71	The Avon Longitudinal Study of Parents and Children	NC_000018.9 - 58038832	Oct 12, 2018 (152)
72	Genetic variation in the Estonian population	NC_000018.9 - 58038832	Oct 12, 2018 (152)
73	ExAC	NC_000018.9 - 58038832	Oct 12, 2018 (152)
74	FINRISK	NC_000018.9 - 58038832	Apr 27, 2020 (154)
75	The Danish reference pan genome	NC_000018.9 - 58038832	Apr 27, 2020 (154)
76	gnomAD - Genomes	NC_000018.10 - 60371599	Apr 26, 2021 (155)
77	gnomAD - Exomes	NC_000018.9 - 58038832	Jul 13, 2019 (153)
78	GO Exome Sequencing Project	NC_000018.9 - 58038832	Oct 12, 2018 (152)
79	Genome of the Netherlands Release 5	NC_000018.9 - 58038832	Apr 27, 2020 (154)
80	Medical Genome Project healthy controls from Spanish population	NC_000018.9 - 58038832	Apr 27, 2020 (154)
81	Northern Sweden	NC_000018.9 - 58038832	Jul 13, 2019 (153)
82	The PAGE Study	NC_000018.10 - 60371599	Jul 13, 2019 (153)
83	MxGDAR/Encodat-PGx	NC_000018.9 - 58038832	Apr 26, 2021 (155)
84	TopMed	NC_000018.10 - 60371599	Apr 26, 2021 (155)
85	UK 10K study - Twins	NC_000018.9 - 58038832	Oct 12, 2018 (152)
86	ALFA	NC_000018.10 - 60371599	Apr 26, 2021 (155)
87	ClinVar	RCV000202590.8	Oct 16, 2022 (156)
88	ClinVar	RCV000419291.8	Oct 16, 2022 (156)
89	ClinVar	RCV000445524.5	Oct 16, 2022 (156)
90	ClinVar	RCV000501342.7	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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss491751065, ss1697886694	NC_000018.8:56189811:T:G	NC_000018.10:60371598:T:G	(self)
74731804, 41418530, 29261112, 3641320, 107852, 4633748, 12638337, 1653508, 18450374, 603626, 15909051, 3378, 41418530, ss237502990, ss342475815, ss479444584, ss491141021, ss491533998, ss536234989, ss780737056, ss783413883, ss993824733, ss1361389711, ss1578443285, ss1584111391, ss1637075330, ss1680069363, ss1693168114, ss1711487866, ss1752262220, ss1917927937, ss1946507580, ss1959811357, ss2743324921, ss2749967143, ss2957712332, ss2985120232, ss3016675219, ss3021851182, ss3627830451, ss3627830452, ss3634710107, ss3636400215, ss3640417415, ss3644707919, ss3652273708, ss3653892391, ss3683522864, ss3742624186, ss3744454830, ss3745010237, ss3772507691, ss3825196495, ss3825916977, ss3835216656, ss3983909394, ss3984134034, ss3984450377, ss3986760206, ss5432006064, ss5661475187, ss5827671302, ss5847824513, ss5848469857, ss5936570609, ss5952902360	NC_000018.9:58038831:T:G	NC_000018.10:60371598:T:G	(self)
RCV000202590.8, RCV000419291.8, RCV000445524.5, RCV000501342.7, 98139285, 527164266, 1198938, 275456793, 8964996204, ss2222329216, ss3701841214, ss3725683934, ss3771977469, ss5059911130, ss5237670872, ss5305609681, ss5498347686, ss5610613350, ss5874453515	NC_000018.10:60371598:T:G	NC_000018.10:60371598:T:G	(self)
ss74817933, ss161062445, ss410826712	NT_025028.14:5829695:T:G	NC_000018.10:60371598:T:G	(self)

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

11 citations for rs52820871

PMID	Title	Author	Year	Journal
10199800	Several mutations in the melanocortin-4 receptor gene including a nonsense and a frameshift mutation associated with dominantly inherited obesity in humans.	Hinney A et al.	1999	The Journal of clinical endocrinology and metabolism
12646666	Binge eating as a major phenotype of melanocortin 4 receptor gene mutations.	Branson R et al.	2003	The New England journal of medicine
15037865	Binge-eating episodes are not characteristic of carriers of melanocortin-4 receptor gene mutations.	Hebebrand J et al.	2004	Molecular psychiatry
20127379	From monogenic to polygenic obesity: recent advances.	Hinney A et al.	2010	European child & adolescent psychiatry
23049848	Association between common polymorphism near the MC4R gene and obesity risk: a systematic review and meta-analysis.	Xi B et al.	2012	PloS one
24820477	Genetic association study of adiposity and melanocortin-4 receptor (MC4R) common variants: replication and functional characterization of non-coding regions.	Evans DS et al.	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
26474449	Practical Experience of the Application of a Weighted Burden Test to Whole Exome Sequence Data for Obesity and Schizophrenia.	Curtis D et al.	2016	Annals of human genetics
26788538	Allelic variants of the Melanocortin 4 receptor (MC4R) gene in a South African study group.	Logan M et al.	2016	Molecular genetics & genomic medicine
32921795	Obesity treatment effect in Danish children and adolescents carrying Melanocortin-4 Receptor mutations.	Trier C et al.	2021	International journal of obesity (2005)
33362866	Identification of a Rare and Potential Pathogenic MC4R Variant in a Brazilian Patient With Adulthood-Onset Severe Obesity.	Salum KCR et al.	2020	Frontiers in genetics

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

rs52820871