Name: rs4654361
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.

rs4654361

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:28687004 (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: A>G / A>T
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.377434 (99903/264690, TOPMED)
G=0.415482 (101666/244694, ALFA)
G=0.373710 (52161/139576, GnomAD) (+ 19 more)
G=0.41000 (32264/78692, PAGE_STUDY)
A=0.20808 (5880/28258, 14KJPN)
A=0.20984 (3517/16760, 8.3KJPN)
G=0.4672 (2992/6404, 1000G_30x)
G=0.4812 (2410/5008, 1000G)
G=0.4353 (1950/4480, Estonian)
G=0.4165 (1605/3854, ALSPAC)
G=0.4013 (1488/3708, TWINSUK)
A=0.2249 (659/2930, KOREAN)
G=0.4260 (806/1892, HapMap)
G=0.422 (421/998, GoNL)
A=0.255 (195/764, PRJEB37584)
G=0.422 (253/600, NorthernSweden)
A=0.269 (114/424, SGDP_PRJ)
G=0.495 (107/216, Qatari)
A=0.278 (59/212, Vietnamese)
A=0.26 (11/42, Siberian)
A=0.50 (20/40, GENOME_DK)
G=0.50 (20/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: GMEB1 : Intron Variant
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	249730	A=0.585424	G=0.414576
European	Sub	220618	A=0.590786	G=0.409214
African	Sub	7966	A=0.7806	G=0.2194
African Others	Sub	316	A=0.829	G=0.171
African American	Sub	7650	A=0.7786	G=0.2214
Asian	Sub	3860	A=0.2236	G=0.7764
East Asian	Sub	3128	A=0.2270	G=0.7730
Other Asian	Sub	732	A=0.209	G=0.791
Latin American 1	Sub	1028	A=0.6654	G=0.3346
Latin American 2	Sub	6596	A=0.4262	G=0.5738
South Asian	Sub	366	A=0.421	G=0.579
Other	Sub	9296	A=0.5519	G=0.4481

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	A=0.622566	G=0.377434
Allele Frequency Aggregator	Total	Global	244694	A=0.584518	G=0.415482
Allele Frequency Aggregator	European	Sub	217524	A=0.590877	G=0.409123
Allele Frequency Aggregator	Other	Sub	8496	A=0.5481	G=0.4519
Allele Frequency Aggregator	African	Sub	6824	A=0.7809	G=0.2191
Allele Frequency Aggregator	Latin American 2	Sub	6596	A=0.4262	G=0.5738
Allele Frequency Aggregator	Asian	Sub	3860	A=0.2236	G=0.7764
Allele Frequency Aggregator	Latin American 1	Sub	1028	A=0.6654	G=0.3346
Allele Frequency Aggregator	South Asian	Sub	366	A=0.421	G=0.579
gnomAD - Genomes	Global	Study-wide	139576	A=0.626290	G=0.373710
gnomAD - Genomes	European	Sub	75676	A=0.58016	G=0.41984
gnomAD - Genomes	African	Sub	41848	A=0.78286	G=0.21714
gnomAD - Genomes	American	Sub	13500	A=0.50578	G=0.49422
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	A=0.5645	G=0.4355
gnomAD - Genomes	East Asian	Sub	3106	A=0.2482	G=0.7518
gnomAD - Genomes	Other	Sub	2126	A=0.6007	G=0.3993
The PAGE Study	Global	Study-wide	78692	A=0.59000	G=0.41000
The PAGE Study	AfricanAmerican	Sub	32508	A=0.77123	G=0.22877
The PAGE Study	Mexican	Sub	10810	A=0.42035	G=0.57965
The PAGE Study	Asian	Sub	8318	A=0.2150	G=0.7850
The PAGE Study	PuertoRican	Sub	7918	A=0.6672	G=0.3328
The PAGE Study	NativeHawaiian	Sub	4534	A=0.2483	G=0.7517
The PAGE Study	Cuban	Sub	4228	A=0.6504	G=0.3496
The PAGE Study	Dominican	Sub	3828	A=0.7181	G=0.2819
The PAGE Study	CentralAmerican	Sub	2450	A=0.4816	G=0.5184
The PAGE Study	SouthAmerican	Sub	1982	A=0.4864	G=0.5136
The PAGE Study	NativeAmerican	Sub	1260	A=0.5095	G=0.4905
The PAGE Study	SouthAsian	Sub	856	A=0.387	G=0.613
14KJPN	JAPANESE	Study-wide	28258	A=0.20808	G=0.79192
8.3KJPN	JAPANESE	Study-wide	16760	A=0.20984	G=0.79016
1000Genomes_30x	Global	Study-wide	6404	A=0.5328	G=0.4672
1000Genomes_30x	African	Sub	1786	A=0.8315	G=0.1685
1000Genomes_30x	Europe	Sub	1266	A=0.6058	G=0.3942
1000Genomes_30x	South Asian	Sub	1202	A=0.3686	G=0.6314
1000Genomes_30x	East Asian	Sub	1170	A=0.2325	G=0.7675
1000Genomes_30x	American	Sub	980	A=0.454	G=0.546
1000Genomes	Global	Study-wide	5008	A=0.5188	G=0.4812
1000Genomes	African	Sub	1322	A=0.8290	G=0.1710
1000Genomes	East Asian	Sub	1008	A=0.2252	G=0.7748
1000Genomes	Europe	Sub	1006	A=0.6083	G=0.3917
1000Genomes	South Asian	Sub	978	A=0.353	G=0.647
1000Genomes	American	Sub	694	A=0.458	G=0.542
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.5647	G=0.4353
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.5835	G=0.4165
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.5987	G=0.4013
KOREAN population from KRGDB	KOREAN	Study-wide	2930	A=0.2249	G=0.7751, T=0.0000
HapMap	Global	Study-wide	1892	A=0.5740	G=0.4260
HapMap	American	Sub	770	A=0.445	G=0.555
HapMap	African	Sub	692	A=0.821	G=0.179
HapMap	Asian	Sub	254	A=0.232	G=0.768
HapMap	Europe	Sub	176	A=0.659	G=0.341
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.578	G=0.422
CNV burdens in cranial meningiomas	Global	Study-wide	764	A=0.255	G=0.745
CNV burdens in cranial meningiomas	CRM	Sub	764	A=0.255	G=0.745
Northern Sweden	ACPOP	Study-wide	600	A=0.578	G=0.422
SGDP_PRJ	Global	Study-wide	424	A=0.269	G=0.731
Qatari	Global	Study-wide	216	A=0.505	G=0.495
A Vietnamese Genetic Variation Database	Global	Study-wide	212	A=0.278	G=0.722
Siberian	Global	Study-wide	42	A=0.26	G=0.74
The Danish reference pan genome	Danish	Study-wide	40	A=0.50	G=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 1	NC_000001.11:g.28687004A>G
GRCh38.p14 chr 1	NC_000001.11:g.28687004A>T
GRCh37.p13 chr 1	NC_000001.10:g.29013516A>G
GRCh37.p13 chr 1	NC_000001.10:g.29013516A>T
GMEB1 RefSeqGene	NG_028983.1:g.23277A>G
GMEB1 RefSeqGene	NG_028983.1:g.23277A>T

Gene: GMEB1, glucocorticoid modulatory element binding protein 1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
GMEB1 transcript variant 3	NM_001319674.2:c.129-3100… NM_001319674.2:c.129-3100A>G	N/A	Intron Variant
GMEB1 transcript variant 1	NM_006582.4:c.129-3070A>G	N/A	Intron Variant
GMEB1 transcript variant 2	NM_024482.3:c.129-3100A>G	N/A	Intron Variant
GMEB1 transcript variant X2	XM_011540518.3:c.129-3070… XM_011540518.3:c.129-3070A>G	N/A	Intron Variant
GMEB1 transcript variant X5	XM_011540519.3:c.129-3070… XM_011540519.3:c.129-3070A>G	N/A	Intron Variant
GMEB1 transcript variant X7	XM_011540521.4:c.129-3100… XM_011540521.4:c.129-3100A>G	N/A	Intron Variant
GMEB1 transcript variant X3	XM_017000087.2:c.129-3070… XM_017000087.2:c.129-3070A>G	N/A	Intron Variant
GMEB1 transcript variant X1	XM_047438136.1:c.129-3070… XM_047438136.1:c.129-3070A>G	N/A	Intron Variant
GMEB1 transcript variant X4	XM_047438187.1:c.129-3070… XM_047438187.1:c.129-3070A>G	N/A	Intron Variant
GMEB1 transcript variant X6	XM_047438233.1:c.129-3100… XM_047438233.1:c.129-3100A>G	N/A	Intron Variant
GMEB1 transcript variant X8	XM_047438283.1:c.129-3100… XM_047438283.1:c.129-3100A>G	N/A	Intron Variant
GMEB1 transcript variant X9	XM_047438316.1:c.129-3100… XM_047438316.1:c.129-3100A>G	N/A	Intron Variant
GMEB1 transcript variant X10	XM_011540522.4: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.

Not Reported in ClinVar

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	A=	G	T
GRCh38.p14 chr 1	NC_000001.11:g.28687004=	NC_000001.11:g.28687004A>G	NC_000001.11:g.28687004A>T
GRCh37.p13 chr 1	NC_000001.10:g.29013516=	NC_000001.10:g.29013516A>G	NC_000001.10:g.29013516A>T
GMEB1 RefSeqGene	NG_028983.1:g.23277=	NG_028983.1:g.23277A>G	NG_028983.1:g.23277A>T
GMEB1 transcript variant 3	NM_001319674.2:c.129-3100=	NM_001319674.2:c.129-3100A>G	NM_001319674.2:c.129-3100A>T
GMEB1 transcript variant 1	NM_006582.3:c.129-3070=	NM_006582.3:c.129-3070A>G	NM_006582.3:c.129-3070A>T
GMEB1 transcript variant 1	NM_006582.4:c.129-3070=	NM_006582.4:c.129-3070A>G	NM_006582.4:c.129-3070A>T
GMEB1 transcript variant 2	NM_024482.2:c.129-3100=	NM_024482.2:c.129-3100A>G	NM_024482.2:c.129-3100A>T
GMEB1 transcript variant 2	NM_024482.3:c.129-3100=	NM_024482.3:c.129-3100A>G	NM_024482.3:c.129-3100A>T
GMEB1 transcript variant X1	XM_005245724.1:c.129-3070=	XM_005245724.1:c.129-3070A>G	XM_005245724.1:c.129-3070A>T
GMEB1 transcript variant X2	XM_005245725.1:c.129-3100=	XM_005245725.1:c.129-3100A>G	XM_005245725.1:c.129-3100A>T
GMEB1 transcript variant X2	XM_011540518.3:c.129-3070=	XM_011540518.3:c.129-3070A>G	XM_011540518.3:c.129-3070A>T
GMEB1 transcript variant X5	XM_011540519.3:c.129-3070=	XM_011540519.3:c.129-3070A>G	XM_011540519.3:c.129-3070A>T
GMEB1 transcript variant X7	XM_011540521.4:c.129-3100=	XM_011540521.4:c.129-3100A>G	XM_011540521.4:c.129-3100A>T
GMEB1 transcript variant X3	XM_017000087.2:c.129-3070=	XM_017000087.2:c.129-3070A>G	XM_017000087.2:c.129-3070A>T
GMEB1 transcript variant X1	XM_047438136.1:c.129-3070=	XM_047438136.1:c.129-3070A>G	XM_047438136.1:c.129-3070A>T
GMEB1 transcript variant X4	XM_047438187.1:c.129-3070=	XM_047438187.1:c.129-3070A>G	XM_047438187.1:c.129-3070A>T
GMEB1 transcript variant X6	XM_047438233.1:c.129-3100=	XM_047438233.1:c.129-3100A>G	XM_047438233.1:c.129-3100A>T
GMEB1 transcript variant X8	XM_047438283.1:c.129-3100=	XM_047438283.1:c.129-3100A>G	XM_047438283.1:c.129-3100A>T
GMEB1 transcript variant X9	XM_047438316.1:c.129-3100=	XM_047438316.1:c.129-3100A>G	XM_047438316.1:c.129-3100A>T

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#.

111 SubSNP, 21 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	WI_SSAHASNP	ss6405710	Feb 20, 2003 (111)
2	CSHL-HAPMAP	ss17355935	Feb 27, 2004 (120)
3	SSAHASNP	ss20490779	Apr 05, 2004 (123)
4	PERLEGEN	ss24264164	Sep 20, 2004 (123)
5	ABI	ss41320574	Mar 14, 2006 (126)
6	ILLUMINA	ss65793424	Oct 15, 2006 (127)
7	ILLUMINA	ss74998594	Dec 06, 2007 (129)
8	HGSV	ss82887317	Dec 16, 2007 (130)
9	HUMANGENOME_JCVI	ss97927461	Feb 06, 2009 (130)
10	BGI	ss105135118	Dec 01, 2009 (131)
11	1000GENOMES	ss108083337	Jan 22, 2009 (130)
12	KRIBB_YJKIM	ss119482532	Dec 01, 2009 (131)
13	ENSEMBL	ss142608336	Dec 01, 2009 (131)
14	GMI	ss154805373	Dec 01, 2009 (131)
15	ILLUMINA	ss160694355	Dec 01, 2009 (131)
16	BCM-HGSC-SUB	ss205350233	Jul 04, 2010 (132)
17	1000GENOMES	ss218298637	Jul 14, 2010 (132)
18	1000GENOMES	ss230473022	Jul 14, 2010 (132)
19	1000GENOMES	ss238177880	Jul 15, 2010 (132)
20	GMI	ss275764320	May 04, 2012 (137)
21	GMI	ss284024445	Apr 25, 2013 (138)
22	PJP	ss290796018	May 09, 2011 (134)
23	ILLUMINA	ss480990559	May 04, 2012 (137)
24	ILLUMINA	ss481011094	May 04, 2012 (137)
25	ILLUMINA	ss481991540	Sep 08, 2015 (146)
26	ILLUMINA	ss485290161	May 04, 2012 (137)
27	ILLUMINA	ss537253534	Sep 08, 2015 (146)
28	TISHKOFF	ss553926931	Apr 25, 2013 (138)
29	SSMP	ss647660565	Apr 25, 2013 (138)
30	ILLUMINA	ss779043220	Aug 21, 2014 (142)
31	ILLUMINA	ss783090970	Sep 08, 2015 (146)
32	ILLUMINA	ss784048373	Aug 21, 2014 (142)
33	ILLUMINA	ss832349440	Sep 08, 2015 (146)
34	ILLUMINA	ss834506089	Aug 21, 2014 (142)
35	EVA-GONL	ss974981252	Aug 21, 2014 (142)
36	JMKIDD_LAB	ss1067757516	Aug 21, 2014 (142)
37	1000GENOMES	ss1290178016	Aug 21, 2014 (142)
38	DDI	ss1425756222	Apr 01, 2015 (144)
39	EVA_GENOME_DK	ss1573959742	Apr 01, 2015 (144)
40	EVA_DECODE	ss1584340862	Apr 01, 2015 (144)
41	EVA_UK10K_ALSPAC	ss1599799472	Apr 01, 2015 (144)
42	EVA_UK10K_TWINSUK	ss1642793505	Apr 01, 2015 (144)
43	EVA_SVP	ss1712320189	Apr 01, 2015 (144)
44	ILLUMINA	ss1751914212	Sep 08, 2015 (146)
45	HAMMER_LAB	ss1794108291	Sep 08, 2015 (146)
46	WEILL_CORNELL_DGM	ss1918192963	Feb 12, 2016 (147)
47	ILLUMINA	ss1945989533	Feb 12, 2016 (147)
48	ILLUMINA	ss1958256743	Feb 12, 2016 (147)
49	GENOMED	ss1966710691	Jul 19, 2016 (147)
50	JJLAB	ss2019607732	Sep 14, 2016 (149)
51	USC_VALOUEV	ss2147615560	Dec 20, 2016 (150)
52	HUMAN_LONGEVITY	ss2161019913	Dec 20, 2016 (150)
53	SYSTEMSBIOZJU	ss2624320120	Nov 08, 2017 (151)
54	ILLUMINA	ss2632494040	Nov 08, 2017 (151)
55	GRF	ss2697521094	Nov 08, 2017 (151)
56	ILLUMINA	ss2710668558	Nov 08, 2017 (151)
57	GNOMAD	ss2753096338	Nov 08, 2017 (151)
58	SWEGEN	ss2986526535	Nov 08, 2017 (151)
59	ILLUMINA	ss3021070483	Nov 08, 2017 (151)
60	BIOINF_KMB_FNS_UNIBA	ss3023568929	Nov 08, 2017 (151)
61	CSHL	ss3343381196	Nov 08, 2017 (151)
62	ILLUMINA	ss3625529115	Oct 11, 2018 (152)
63	ILLUMINA	ss3626056691	Oct 11, 2018 (152)
64	ILLUMINA	ss3630531330	Oct 11, 2018 (152)
65	ILLUMINA	ss3632885408	Oct 11, 2018 (152)
66	ILLUMINA	ss3633579590	Oct 11, 2018 (152)
67	ILLUMINA	ss3634314786	Oct 11, 2018 (152)
68	ILLUMINA	ss3635273595	Oct 11, 2018 (152)
69	ILLUMINA	ss3635990663	Oct 11, 2018 (152)
70	ILLUMINA	ss3637023983	Oct 11, 2018 (152)
71	ILLUMINA	ss3640022148	Oct 11, 2018 (152)
72	ILLUMINA	ss3642758608	Oct 11, 2018 (152)
73	ILLUMINA	ss3644485407	Oct 11, 2018 (152)
74	URBANLAB	ss3646629739	Oct 11, 2018 (152)
75	ILLUMINA	ss3651395972	Oct 11, 2018 (152)
76	EGCUT_WGS	ss3654589717	Jul 12, 2019 (153)
77	EVA_DECODE	ss3686418885	Jul 12, 2019 (153)
78	ILLUMINA	ss3725009299	Jul 12, 2019 (153)
79	ACPOP	ss3726897638	Jul 12, 2019 (153)
80	ILLUMINA	ss3744043786	Jul 12, 2019 (153)
81	ILLUMINA	ss3744615736	Jul 12, 2019 (153)
82	EVA	ss3745981928	Jul 12, 2019 (153)
83	PAGE_CC	ss3770796088	Jul 12, 2019 (153)
84	ILLUMINA	ss3772117275	Jul 12, 2019 (153)
85	PACBIO	ss3783363419	Jul 12, 2019 (153)
86	PACBIO	ss3789030528	Jul 12, 2019 (153)
87	PACBIO	ss3793903086	Jul 12, 2019 (153)
88	KHV_HUMAN_GENOMES	ss3799001331	Jul 12, 2019 (153)
89	EVA	ss3826088052	Apr 25, 2020 (154)
90	EVA	ss3836431515	Apr 25, 2020 (154)
91	EVA	ss3841836487	Apr 25, 2020 (154)
92	SGDP_PRJ	ss3848483391	Apr 25, 2020 (154)
93	KRGDB	ss3893418431	Apr 25, 2020 (154)
94	EVA	ss3984454345	Apr 25, 2021 (155)
95	EVA	ss4016900269	Apr 25, 2021 (155)
96	TOPMED	ss4443407672	Apr 25, 2021 (155)
97	TOMMO_GENOMICS	ss5143109476	Apr 25, 2021 (155)
98	1000G_HIGH_COVERAGE	ss5241640471	Oct 13, 2022 (156)
99	EVA	ss5314602893	Oct 13, 2022 (156)
100	EVA	ss5317572224	Oct 13, 2022 (156)
101	HUGCELL_USP	ss5442774077	Oct 13, 2022 (156)
102	EVA	ss5505797749	Oct 13, 2022 (156)
103	1000G_HIGH_COVERAGE	ss5513609383	Oct 13, 2022 (156)
104	SANFORD_IMAGENETICS	ss5625181604	Oct 13, 2022 (156)
105	TOMMO_GENOMICS	ss5667611531	Oct 13, 2022 (156)
106	EVA	ss5799478952	Oct 13, 2022 (156)
107	YY_MCH	ss5800441826	Oct 13, 2022 (156)
108	EVA	ss5831718903	Oct 13, 2022 (156)
109	EVA	ss5848835368	Oct 13, 2022 (156)
110	EVA	ss5907539754	Oct 13, 2022 (156)
111	EVA	ss5936997822	Oct 13, 2022 (156)
112	1000Genomes	NC_000001.10 - 29013516	Oct 11, 2018 (152)
113	1000Genomes_30x	NC_000001.11 - 28687004	Oct 13, 2022 (156)
114	The Avon Longitudinal Study of Parents and Children	NC_000001.10 - 29013516	Oct 11, 2018 (152)
115	Genetic variation in the Estonian population	NC_000001.10 - 29013516	Oct 11, 2018 (152)
116	The Danish reference pan genome	NC_000001.10 - 29013516	Apr 25, 2020 (154)
117	gnomAD - Genomes	NC_000001.11 - 28687004	Apr 25, 2021 (155)
118	Genome of the Netherlands Release 5	NC_000001.10 - 29013516	Apr 25, 2020 (154)
119	HapMap	NC_000001.11 - 28687004	Apr 25, 2020 (154)
120	KOREAN population from KRGDB	NC_000001.10 - 29013516	Apr 25, 2020 (154)
121	Northern Sweden	NC_000001.10 - 29013516	Jul 12, 2019 (153)
122	The PAGE Study	NC_000001.11 - 28687004	Jul 12, 2019 (153)
123	CNV burdens in cranial meningiomas	NC_000001.10 - 29013516	Apr 25, 2021 (155)
124	Qatari	NC_000001.10 - 29013516	Apr 25, 2020 (154)
125	SGDP_PRJ	NC_000001.10 - 29013516	Apr 25, 2020 (154)
126	Siberian	NC_000001.10 - 29013516	Apr 25, 2020 (154)
127	8.3KJPN	NC_000001.10 - 29013516	Apr 25, 2021 (155)
128	14KJPN	NC_000001.11 - 28687004	Oct 13, 2022 (156)
129	TopMed	NC_000001.11 - 28687004	Apr 25, 2021 (155)
130	UK 10K study - Twins	NC_000001.10 - 29013516	Oct 11, 2018 (152)
131	A Vietnamese Genetic Variation Database	NC_000001.10 - 29013516	Jul 12, 2019 (153)
132	ALFA	NC_000001.11 - 28687004	Apr 25, 2021 (155)

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)
rs12735486	Sep 24, 2004 (123)
rs17519141	Oct 07, 2004 (123)
rs61563038	May 27, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss82887317	NC_000001.8:28834131:A:G	NC_000001.11:28687003:A:G	(self)
ss108083337, ss160694355, ss205350233, ss275764320, ss284024445, ss290796018, ss480990559, ss1584340862, ss1712320189, ss3642758608	NC_000001.9:28886102:A:G	NC_000001.11:28687003:A:G	(self)
871294, 464450, 327965, 1437743, 199253, 595825, 182503, 3647, 234893, 500371, 131914, 1078783, 464450, 95579, ss218298637, ss230473022, ss238177880, ss481011094, ss481991540, ss485290161, ss537253534, ss553926931, ss647660565, ss779043220, ss783090970, ss784048373, ss832349440, ss834506089, ss974981252, ss1067757516, ss1290178016, ss1425756222, ss1573959742, ss1599799472, ss1642793505, ss1751914212, ss1794108291, ss1918192963, ss1945989533, ss1958256743, ss1966710691, ss2019607732, ss2147615560, ss2624320120, ss2632494040, ss2697521094, ss2710668558, ss2753096338, ss2986526535, ss3021070483, ss3343381196, ss3625529115, ss3626056691, ss3630531330, ss3632885408, ss3633579590, ss3634314786, ss3635273595, ss3635990663, ss3637023983, ss3640022148, ss3644485407, ss3651395972, ss3654589717, ss3726897638, ss3744043786, ss3744615736, ss3745981928, ss3772117275, ss3783363419, ss3789030528, ss3793903086, ss3826088052, ss3836431515, ss3848483391, ss3893418431, ss3984454345, ss4016900269, ss5143109476, ss5314602893, ss5317572224, ss5505797749, ss5625181604, ss5799478952, ss5831718903, ss5936997822	NC_000001.10:29013515:A:G	NC_000001.11:28687003:A:G	(self)
1135318, 6143874, 35571, 17557, 1448635, 7014007, 11312559851, ss2161019913, ss3023568929, ss3646629739, ss3686418885, ss3725009299, ss3770796088, ss3799001331, ss3841836487, ss4443407672, ss5241640471, ss5442774077, ss5513609383, ss5667611531, ss5800441826, ss5848835368, ss5907539754	NC_000001.11:28687003:A:G	NC_000001.11:28687003:A:G	(self)
ss17355935, ss20490779	NT_004538.15:202821:A:G	NC_000001.11:28687003:A:G	(self)
ss6405710, ss24264164, ss41320574, ss65793424, ss74998594, ss97927461, ss105135118, ss119482532, ss142608336, ss154805373	NT_004610.19:15693603:A:G	NC_000001.11:28687003:A:G	(self)
595825, ss3893418431	NC_000001.10:29013515:A:T	NC_000001.11:28687003:A:T	(self)

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

No publications for rs4654361

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

rs4654361