Name: rs4787483
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.

rs4787483

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr16:29874126 (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
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.215482 (57036/264690, TOPMED)
G=0.307227 (79551/258932, ALFA)
G=0.240130 (33634/140066, GnomAD) (+ 20 more)
G=0.12046 (9480/78696, PAGE_STUDY)
G=0.03433 (970/28258, 14KJPN)
G=0.03371 (565/16760, 8.3KJPN)
G=0.1416 (907/6404, 1000G_30x)
G=0.1426 (714/5008, 1000G)
G=0.3786 (1696/4480, Estonian)
G=0.3389 (1306/3854, ALSPAC)
G=0.3312 (1228/3708, TWINSUK)
G=0.0370 (108/2922, KOREAN)
G=0.1560 (325/2084, HGDP_Stanford)
G=0.1358 (257/1892, HapMap)
G=0.374 (373/998, GoNL)
G=0.033 (26/792, PRJEB37584)
G=0.308 (185/600, NorthernSweden)
G=0.116 (25/216, Qatari)
G=0.051 (11/216, Vietnamese)
A=0.437 (55/126, SGDP_PRJ)
G=0.38 (15/40, GENOME_DK)
G=0.28 (10/36, Ancient Sardinia)
A=0.36 (8/22, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: SEZ6L2 : Intron Variant
Publications: 1 citation
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	259148	A=0.692782	G=0.307218
European	Sub	224260	A=0.669330	G=0.330670
African	Sub	8764	A=0.8955	G=0.1045
African Others	Sub	318	A=0.943	G=0.057
African American	Sub	8446	A=0.8937	G=0.1063
Asian	Sub	6420	A=0.9553	G=0.0447
East Asian	Sub	4586	A=0.9549	G=0.0451
Other Asian	Sub	1834	A=0.9564	G=0.0436
Latin American 1	Sub	564	A=0.798	G=0.202
Latin American 2	Sub	1656	A=0.8460	G=0.1540
South Asian	Sub	5152	A=0.7844	G=0.2156
Other	Sub	12332	A=0.77489	G=0.22511

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=0.784518	G=0.215482
Allele Frequency Aggregator	Total	Global	258932	A=0.692773	G=0.307227
Allele Frequency Aggregator	European	Sub	224080	A=0.669319	G=0.330681
Allele Frequency Aggregator	Other	Sub	12310	A=0.77474	G=0.22526
Allele Frequency Aggregator	African	Sub	8750	A=0.8958	G=0.1042
Allele Frequency Aggregator	Asian	Sub	6420	A=0.9553	G=0.0447
Allele Frequency Aggregator	South Asian	Sub	5152	A=0.7844	G=0.2156
Allele Frequency Aggregator	Latin American 2	Sub	1656	A=0.8460	G=0.1540
Allele Frequency Aggregator	Latin American 1	Sub	564	A=0.798	G=0.202
gnomAD - Genomes	Global	Study-wide	140066	A=0.759870	G=0.240130
gnomAD - Genomes	European	Sub	75834	A=0.66487	G=0.33513
gnomAD - Genomes	African	Sub	41996	A=0.89516	G=0.10484
gnomAD - Genomes	American	Sub	13636	A=0.82290	G=0.17710
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	A=0.7554	G=0.2446
gnomAD - Genomes	East Asian	Sub	3124	A=0.9584	G=0.0416
gnomAD - Genomes	Other	Sub	2152	A=0.7867	G=0.2133
The PAGE Study	Global	Study-wide	78696	A=0.87954	G=0.12046
The PAGE Study	AfricanAmerican	Sub	32512	A=0.89475	G=0.10525
The PAGE Study	Mexican	Sub	10810	A=0.86633	G=0.13367
The PAGE Study	Asian	Sub	8318	A=0.9673	G=0.0327
The PAGE Study	PuertoRican	Sub	7918	A=0.8246	G=0.1754
The PAGE Study	NativeHawaiian	Sub	4534	A=0.9069	G=0.0931
The PAGE Study	Cuban	Sub	4230	A=0.7910	G=0.2090
The PAGE Study	Dominican	Sub	3826	A=0.8351	G=0.1649
The PAGE Study	CentralAmerican	Sub	2450	A=0.8694	G=0.1306
The PAGE Study	SouthAmerican	Sub	1982	A=0.8703	G=0.1297
The PAGE Study	NativeAmerican	Sub	1260	A=0.7698	G=0.2302
The PAGE Study	SouthAsian	Sub	856	A=0.827	G=0.173
14KJPN	JAPANESE	Study-wide	28258	A=0.96567	G=0.03433
8.3KJPN	JAPANESE	Study-wide	16760	A=0.96629	G=0.03371
1000Genomes_30x	Global	Study-wide	6404	A=0.8584	G=0.1416
1000Genomes_30x	African	Sub	1786	A=0.9295	G=0.0705
1000Genomes_30x	Europe	Sub	1266	A=0.6864	G=0.3136
1000Genomes_30x	South Asian	Sub	1202	A=0.8436	G=0.1564
1000Genomes_30x	East Asian	Sub	1170	A=0.9556	G=0.0444
1000Genomes_30x	American	Sub	980	A=0.853	G=0.147
1000Genomes	Global	Study-wide	5008	A=0.8574	G=0.1426
1000Genomes	African	Sub	1322	A=0.9259	G=0.0741
1000Genomes	East Asian	Sub	1008	A=0.9554	G=0.0446
1000Genomes	Europe	Sub	1006	A=0.6859	G=0.3141
1000Genomes	South Asian	Sub	978	A=0.846	G=0.154
1000Genomes	American	Sub	694	A=0.850	G=0.150
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.6214	G=0.3786
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.6611	G=0.3389
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.6688	G=0.3312
KOREAN population from KRGDB	KOREAN	Study-wide	2922	A=0.9630	G=0.0370
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	A=0.8440	G=0.1560
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	A=0.960	G=0.040
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	A=0.749	G=0.251
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	A=0.831	G=0.169
HGDP-CEPH-db Supplement 1	Europe	Sub	320	A=0.681	G=0.319
HGDP-CEPH-db Supplement 1	Africa	Sub	242	A=0.839	G=0.161
HGDP-CEPH-db Supplement 1	America	Sub	216	A=0.991	G=0.009
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	A=1.00	G=0.00
HapMap	Global	Study-wide	1892	A=0.8642	G=0.1358
HapMap	American	Sub	770	A=0.822	G=0.178
HapMap	African	Sub	692	A=0.915	G=0.085
HapMap	Asian	Sub	254	A=0.957	G=0.043
HapMap	Europe	Sub	176	A=0.716	G=0.284
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.626	G=0.374
CNV burdens in cranial meningiomas	Global	Study-wide	792	A=0.967	G=0.033
CNV burdens in cranial meningiomas	CRM	Sub	792	A=0.967	G=0.033
Northern Sweden	ACPOP	Study-wide	600	A=0.692	G=0.308
Qatari	Global	Study-wide	216	A=0.884	G=0.116
A Vietnamese Genetic Variation Database	Global	Study-wide	216	A=0.949	G=0.051
SGDP_PRJ	Global	Study-wide	126	A=0.437	G=0.563
The Danish reference pan genome	Danish	Study-wide	40	A=0.62	G=0.38
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	36	A=0.72	G=0.28
Siberian	Global	Study-wide	22	A=0.36	G=0.64

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 16	NC_000016.10:g.29874126A>G
GRCh37.p13 chr 16	NC_000016.9:g.29885447A>G
SEZ6L2 RefSeqGene	NG_029737.2:g.30139T>C

Gene: SEZ6L2, seizure related 6 homolog like 2 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SEZ6L2 transcript variant 3	NM_001114099.3:c.1895-397… NM_001114099.3:c.1895-397T>C	N/A	Intron Variant
SEZ6L2 transcript variant 4	NM_001114100.3:c.1763-397… NM_001114100.3:c.1763-397T>C	N/A	Intron Variant
SEZ6L2 transcript variant 5	NM_001243332.2:c.2105-397… NM_001243332.2:c.2105-397T>C	N/A	Intron Variant
SEZ6L2 transcript variant 6	NM_001243333.2:c.1973-397… NM_001243333.2:c.1973-397T>C	N/A	Intron Variant
SEZ6L2 transcript variant 7	NM_001388363.1:c.1763-397… NM_001388363.1:c.1763-397T>C	N/A	Intron Variant
SEZ6L2 transcript variant 8	NM_001388364.1:c.2105-397… NM_001388364.1:c.2105-397T>C	N/A	Intron Variant
SEZ6L2 transcript variant 9	NM_001388365.1:c.1904-397… NM_001388365.1:c.1904-397T>C	N/A	Intron Variant
SEZ6L2 transcript variant 1	NM_012410.4:c.1895-397T>C	N/A	Intron Variant
SEZ6L2 transcript variant 2	NM_201575.4:c.2105-397T>C	N/A	Intron 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
GRCh38.p14 chr 16	NC_000016.10:g.29874126=	NC_000016.10:g.29874126A>G
GRCh37.p13 chr 16	NC_000016.9:g.29885447=	NC_000016.9:g.29885447A>G
SEZ6L2 RefSeqGene	NG_029737.2:g.30139=	NG_029737.2:g.30139T>C
SEZ6L2 transcript variant 3	NM_001114099.2:c.1895-397=	NM_001114099.2:c.1895-397T>C
SEZ6L2 transcript variant 3	NM_001114099.3:c.1895-397=	NM_001114099.3:c.1895-397T>C
SEZ6L2 transcript variant 4	NM_001114100.2:c.1763-397=	NM_001114100.2:c.1763-397T>C
SEZ6L2 transcript variant 4	NM_001114100.3:c.1763-397=	NM_001114100.3:c.1763-397T>C
SEZ6L2 transcript variant 5	NM_001243332.1:c.2105-397=	NM_001243332.1:c.2105-397T>C
SEZ6L2 transcript variant 5	NM_001243332.2:c.2105-397=	NM_001243332.2:c.2105-397T>C
SEZ6L2 transcript variant 6	NM_001243333.1:c.1973-397=	NM_001243333.1:c.1973-397T>C
SEZ6L2 transcript variant 6	NM_001243333.2:c.1973-397=	NM_001243333.2:c.1973-397T>C
SEZ6L2 transcript variant 7	NM_001388363.1:c.1763-397=	NM_001388363.1:c.1763-397T>C
SEZ6L2 transcript variant 8	NM_001388364.1:c.2105-397=	NM_001388364.1:c.2105-397T>C
SEZ6L2 transcript variant 9	NM_001388365.1:c.1904-397=	NM_001388365.1:c.1904-397T>C
SEZ6L2 transcript variant 1	NM_012410.3:c.1895-397=	NM_012410.3:c.1895-397T>C
SEZ6L2 transcript variant 1	NM_012410.4:c.1895-397=	NM_012410.4:c.1895-397T>C
SEZ6L2 transcript variant 2	NM_201575.3:c.2105-397=	NM_201575.3:c.2105-397T>C
SEZ6L2 transcript variant 2	NM_201575.4:c.2105-397=	NM_201575.4:c.2105-397T>C
SEZ6L2 transcript variant X1	XM_005255252.1:c.2105-397=	XM_005255252.1:c.2105-397T>C

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#.

124 SubSNP, 23 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	WI_SSAHASNP	ss6606442	Feb 20, 2003 (111)
2	PERLEGEN	ss24455709	Sep 20, 2004 (123)
3	ILLUMINA	ss66561401	Nov 30, 2006 (127)
4	ILLUMINA	ss67376567	Nov 30, 2006 (127)
5	ILLUMINA	ss67756695	Nov 30, 2006 (127)
6	PERLEGEN	ss69343021	May 17, 2007 (127)
7	ILLUMINA	ss70824929	May 25, 2008 (130)
8	ILLUMINA	ss71406932	May 17, 2007 (127)
9	ILLUMINA	ss75548685	Dec 06, 2007 (129)
10	ILLUMINA	ss79195300	Dec 15, 2007 (130)
11	KRIBB_YJKIM	ss84352890	Dec 15, 2007 (130)
12	HUMANGENOME_JCVI	ss96678545	Feb 05, 2009 (130)
13	1000GENOMES	ss109296055	Jan 23, 2009 (130)
14	ILLUMINA	ss122387954	Dec 01, 2009 (131)
15	ENSEMBL	ss136761342	Dec 01, 2009 (131)
16	ILLUMINA	ss154317300	Dec 01, 2009 (131)
17	ILLUMINA	ss159493981	Dec 01, 2009 (131)
18	COMPLETE_GENOMICS	ss168109431	Jul 04, 2010 (132)
19	ILLUMINA	ss171917294	Jul 04, 2010 (132)
20	ILLUMINA	ss173813117	Jul 04, 2010 (132)
21	BUSHMAN	ss201606477	Jul 04, 2010 (132)
22	1000GENOMES	ss227213006	Jul 14, 2010 (132)
23	1000GENOMES	ss237003682	Jul 15, 2010 (132)
24	ILLUMINA	ss244301298	Jul 04, 2010 (132)
25	BL	ss255616821	May 09, 2011 (134)
26	PJP	ss291944067	May 09, 2011 (134)
27	ILLUMINA	ss483499969	May 04, 2012 (137)
28	ILLUMINA	ss483886086	May 04, 2012 (137)
29	EXOME_CHIP	ss491506895	May 04, 2012 (137)
30	ILLUMINA	ss536080978	Sep 08, 2015 (146)
31	TISHKOFF	ss564867626	Apr 25, 2013 (138)
32	SSMP	ss660621992	Apr 25, 2013 (138)
33	ILLUMINA	ss780445304	Aug 21, 2014 (142)
34	ILLUMINA	ss780685351	Aug 21, 2014 (142)
35	ILLUMINA	ss782386662	Aug 21, 2014 (142)
36	ILLUMINA	ss783358837	Aug 21, 2014 (142)
37	ILLUMINA	ss825525818	Apr 01, 2015 (144)
38	ILLUMINA	ss833005366	Aug 21, 2014 (142)
39	ILLUMINA	ss833596195	Aug 21, 2014 (142)
40	ILLUMINA	ss835935087	Aug 21, 2014 (142)
41	EVA-GONL	ss992426806	Aug 21, 2014 (142)
42	JMKIDD_LAB	ss1080586250	Aug 21, 2014 (142)
43	1000GENOMES	ss1355950117	Aug 21, 2014 (142)
44	DDI	ss1427822467	Apr 01, 2015 (144)
45	EVA_GENOME_DK	ss1577893123	Apr 01, 2015 (144)
46	EVA_UK10K_ALSPAC	ss1634292478	Apr 01, 2015 (144)
47	EVA_UK10K_TWINSUK	ss1677286511	Apr 01, 2015 (144)
48	EVA_DECODE	ss1696460868	Apr 01, 2015 (144)
49	EVA_SVP	ss1713535664	Apr 01, 2015 (144)
50	ILLUMINA	ss1752189611	Sep 08, 2015 (146)
51	HAMMER_LAB	ss1808486979	Sep 08, 2015 (146)
52	ILLUMINA	ss1917906482	Feb 12, 2016 (147)
53	WEILL_CORNELL_DGM	ss1935852001	Feb 12, 2016 (147)
54	ILLUMINA	ss1946413186	Feb 12, 2016 (147)
55	ILLUMINA	ss1959672434	Feb 12, 2016 (147)
56	AMU	ss1966652545	Feb 12, 2016 (147)
57	JJLAB	ss2028713189	Sep 14, 2016 (149)
58	USC_VALOUEV	ss2157126630	Dec 20, 2016 (150)
59	HUMAN_LONGEVITY	ss2211678810	Dec 20, 2016 (150)
60	SYSTEMSBIOZJU	ss2628849522	Nov 08, 2017 (151)
61	ILLUMINA	ss2633311208	Nov 08, 2017 (151)
62	ILLUMINA	ss2633311209	Nov 08, 2017 (151)
63	GRF	ss2701634246	Nov 08, 2017 (151)
64	ILLUMINA	ss2710831076	Nov 08, 2017 (151)
65	GNOMAD	ss2942024456	Nov 08, 2017 (151)
66	AFFY	ss2985065420	Nov 08, 2017 (151)
67	AFFY	ss2985703043	Nov 08, 2017 (151)
68	SWEGEN	ss3014322830	Nov 08, 2017 (151)
69	ILLUMINA	ss3021698759	Nov 08, 2017 (151)
70	BIOINF_KMB_FNS_UNIBA	ss3028179796	Nov 08, 2017 (151)
71	CSHL	ss3351406318	Nov 08, 2017 (151)
72	ILLUMINA	ss3627509444	Oct 12, 2018 (152)
73	ILLUMINA	ss3627509445	Oct 12, 2018 (152)
74	ILLUMINA	ss3631298085	Oct 12, 2018 (152)
75	ILLUMINA	ss3634639257	Oct 12, 2018 (152)
76	ILLUMINA	ss3638121620	Oct 12, 2018 (152)
77	ILLUMINA	ss3639072783	Oct 12, 2018 (152)
78	ILLUMINA	ss3639542470	Oct 12, 2018 (152)
79	ILLUMINA	ss3640346576	Oct 12, 2018 (152)
80	ILLUMINA	ss3641070719	Oct 12, 2018 (152)
81	ILLUMINA	ss3641366219	Oct 12, 2018 (152)
82	ILLUMINA	ss3641951851	Oct 12, 2018 (152)
83	ILLUMINA	ss3643102996	Oct 12, 2018 (152)
84	ILLUMINA	ss3644666258	Oct 12, 2018 (152)
85	URBANLAB	ss3650497391	Oct 12, 2018 (152)
86	ILLUMINA	ss3652105900	Oct 12, 2018 (152)
87	ILLUMINA	ss3653838008	Oct 12, 2018 (152)
88	EGCUT_WGS	ss3681397927	Jul 13, 2019 (153)
89	EVA_DECODE	ss3699124667	Jul 13, 2019 (153)
90	ILLUMINA	ss3725556515	Jul 13, 2019 (153)
91	ACPOP	ss3741460901	Jul 13, 2019 (153)
92	ILLUMINA	ss3744430784	Jul 13, 2019 (153)
93	ILLUMINA	ss3744939686	Jul 13, 2019 (153)
94	EVA	ss3753855979	Jul 13, 2019 (153)
95	PAGE_CC	ss3771875491	Jul 13, 2019 (153)
96	ILLUMINA	ss3772438011	Jul 13, 2019 (153)
97	PACBIO	ss3788020582	Jul 13, 2019 (153)
98	PACBIO	ss3793007476	Jul 13, 2019 (153)
99	PACBIO	ss3797892380	Jul 13, 2019 (153)
100	KHV_HUMAN_GENOMES	ss3819150629	Jul 13, 2019 (153)
101	EVA	ss3834544519	Apr 27, 2020 (154)
102	HGDP	ss3847543734	Apr 27, 2020 (154)
103	SGDP_PRJ	ss3884274358	Apr 27, 2020 (154)
104	KRGDB	ss3933623726	Apr 27, 2020 (154)
105	EVA	ss3984712048	Apr 27, 2021 (155)
106	EVA	ss3985753923	Apr 27, 2021 (155)
107	EVA	ss4017733088	Apr 27, 2021 (155)
108	TOPMED	ss5012586293	Apr 27, 2021 (155)
109	TOMMO_GENOMICS	ss5219155598	Apr 27, 2021 (155)
110	EVA	ss5237562885	Apr 27, 2021 (155)
111	1000G_HIGH_COVERAGE	ss5300663858	Oct 17, 2022 (156)
112	EVA	ss5315834482	Oct 17, 2022 (156)
113	EVA	ss5423229973	Oct 17, 2022 (156)
114	HUGCELL_USP	ss5494093498	Oct 17, 2022 (156)
115	1000G_HIGH_COVERAGE	ss5603139701	Oct 17, 2022 (156)
116	SANFORD_IMAGENETICS	ss5658757247	Oct 17, 2022 (156)
117	TOMMO_GENOMICS	ss5773850100	Oct 17, 2022 (156)
118	YY_MCH	ss5815889354	Oct 17, 2022 (156)
119	EVA	ss5846305420	Oct 17, 2022 (156)
120	EVA	ss5847768801	Oct 17, 2022 (156)
121	EVA	ss5851547831	Oct 17, 2022 (156)
122	EVA	ss5898823055	Oct 17, 2022 (156)
123	EVA	ss5950172347	Oct 17, 2022 (156)
124	EVA	ss5979483229	Oct 17, 2022 (156)
125	1000Genomes	NC_000016.9 - 29885447	Oct 12, 2018 (152)
126	1000Genomes_30x	NC_000016.10 - 29874126	Oct 17, 2022 (156)
127	The Avon Longitudinal Study of Parents and Children	NC_000016.9 - 29885447	Oct 12, 2018 (152)
128	Genetic variation in the Estonian population	NC_000016.9 - 29885447	Oct 12, 2018 (152)
129	The Danish reference pan genome	NC_000016.9 - 29885447	Apr 27, 2020 (154)
130	gnomAD - Genomes	NC_000016.10 - 29874126	Apr 27, 2021 (155)
131	Genome of the Netherlands Release 5	NC_000016.9 - 29885447	Apr 27, 2020 (154)
132	HGDP-CEPH-db Supplement 1	NC_000016.8 - 29792948	Apr 27, 2020 (154)
133	HapMap	NC_000016.10 - 29874126	Apr 27, 2020 (154)
134	KOREAN population from KRGDB	NC_000016.9 - 29885447	Apr 27, 2020 (154)
135	Northern Sweden	NC_000016.9 - 29885447	Jul 13, 2019 (153)
136	The PAGE Study	NC_000016.10 - 29874126	Jul 13, 2019 (153)
137	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000016.9 - 29885447	Apr 27, 2021 (155)
138	CNV burdens in cranial meningiomas	NC_000016.9 - 29885447	Apr 27, 2021 (155)
139	Qatari	NC_000016.9 - 29885447	Apr 27, 2020 (154)
140	SGDP_PRJ	NC_000016.9 - 29885447	Apr 27, 2020 (154)
141	Siberian	NC_000016.9 - 29885447	Apr 27, 2020 (154)
142	8.3KJPN	NC_000016.9 - 29885447	Apr 27, 2021 (155)
143	14KJPN	NC_000016.10 - 29874126	Oct 17, 2022 (156)
144	TopMed	NC_000016.10 - 29874126	Apr 27, 2021 (155)
145	UK 10K study - Twins	NC_000016.9 - 29885447	Oct 12, 2018 (152)
146	A Vietnamese Genetic Variation Database	NC_000016.9 - 29885447	Jul 13, 2019 (153)
147	ALFA	NC_000016.10 - 29874126	Apr 27, 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)
rs17530833	Oct 08, 2004 (123)
rs59892233	May 25, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
221626, ss109296055, ss168109431, ss201606477, ss244301298, ss255616821, ss291944067, ss483499969, ss825525818, ss1696460868, ss1713535664, ss3639072783, ss3639542470, ss3643102996, ss3847543734	NC_000016.8:29792947:A:G	NC_000016.10:29874125:A:G	(self)
69104139, 38356487, 27136175, 4106419, 17109822, 40801120, 14745766, 979850, 261583, 17893923, 36291338, 9642984, 77124905, 38356487, 8516713, ss227213006, ss237003682, ss483886086, ss491506895, ss536080978, ss564867626, ss660621992, ss780445304, ss780685351, ss782386662, ss783358837, ss833005366, ss833596195, ss835935087, ss992426806, ss1080586250, ss1355950117, ss1427822467, ss1577893123, ss1634292478, ss1677286511, ss1752189611, ss1808486979, ss1917906482, ss1935852001, ss1946413186, ss1959672434, ss1966652545, ss2028713189, ss2157126630, ss2628849522, ss2633311208, ss2633311209, ss2701634246, ss2710831076, ss2942024456, ss2985065420, ss2985703043, ss3014322830, ss3021698759, ss3351406318, ss3627509444, ss3627509445, ss3631298085, ss3634639257, ss3638121620, ss3640346576, ss3641070719, ss3641366219, ss3641951851, ss3644666258, ss3652105900, ss3653838008, ss3681397927, ss3741460901, ss3744430784, ss3744939686, ss3753855979, ss3772438011, ss3788020582, ss3793007476, ss3797892380, ss3834544519, ss3884274358, ss3933623726, ss3984712048, ss3985753923, ss4017733088, ss5219155598, ss5237562885, ss5315834482, ss5423229973, ss5658757247, ss5846305420, ss5847768801, ss5950172347, ss5979483229	NC_000016.9:29885446:A:G	NC_000016.10:29874125:A:G	(self)
90665636, 487077941, 1373280, 1096960, 107687204, 228131954, 2118729181, ss2211678810, ss3028179796, ss3650497391, ss3699124667, ss3725556515, ss3771875491, ss3819150629, ss5012586293, ss5300663858, ss5494093498, ss5603139701, ss5773850100, ss5815889354, ss5851547831, ss5898823055	NC_000016.10:29874125:A:G	NC_000016.10:29874125:A:G	(self)
ss6606442, ss24455709, ss66561401, ss67376567, ss67756695, ss69343021, ss70824929, ss71406932, ss75548685, ss79195300, ss84352890, ss96678545, ss122387954, ss136761342, ss154317300, ss159493981, ss171917294, ss173813117	NT_010393.16:29825446:A:G	NC_000016.10:29874125:A:G	(self)

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

1 citation for rs4787483

PMID	Title	Author	Year	Journal
19260139	Genome-wide association study of anthropometric traits in Korcula Island, Croatia.	Polasek O et al.	2009	Croatian medical journal

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

rs4787483