Name: rs594529
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.

rs594529

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:100352908 (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>A / T>C
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.016132 (4270/264690, TOPMED)
T=0.021941 (5456/248668, GnomAD_exome)
T=0.016994 (2384/140284, GnomAD) (+ 21 more)
T=0.021513 (2603/120994, ExAC)
T=0.01524 (471/30914, ALFA)
T=0.01136 (321/28256, 14KJPN)
T=0.01158 (194/16760, 8.3KJPN)
T=0.01553 (202/13006, GO-ESP)
T=0.0153 (98/6404, 1000G_30x)
T=0.0166 (83/5008, 1000G)
T=0.0181 (81/4480, Estonian)
T=0.0223 (86/3854, ALSPAC)
T=0.0200 (74/3708, TWINSUK)
T=0.0130 (38/2930, KOREAN)
T=0.0240 (44/1832, Korea1K)
T=0.0172 (19/1102, HapMap)
T=0.015 (9/608, Vietnamese)
T=0.028 (17/600, NorthernSweden)
T=0.018 (10/558, SGDP_PRJ)
T=0.296 (158/534, MGP)
T=0.023 (7/304, FINRISK)
T=0.014 (3/216, Qatari)
T=0.00 (0/56, Siberian)
T=0.00 (0/40, GENOME_DK)

Clinical Significance: Reported in ClinVar
Gene : Consequence: CDC14A : 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	30914	T=0.01524	C=0.98476
European	Sub	22078	T=0.01694	C=0.98306
African	Sub	4698	T=0.0051	C=0.9949
African Others	Sub	156	T=0.000	C=1.000
African American	Sub	4542	T=0.0053	C=0.9947
Asian	Sub	176	T=0.028	C=0.972
East Asian	Sub	120	T=0.033	C=0.967
Other Asian	Sub	56	T=0.02	C=0.98
Latin American 1	Sub	160	T=0.013	C=0.988
Latin American 2	Sub	664	T=0.041	C=0.959
South Asian	Sub	98	T=0.04	C=0.96
Other	Sub	3040	T=0.0115	C=0.9885

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=0.016132	C=0.983868
gnomAD - Exomes	Global	Study-wide	248668	T=0.021941	C=0.978059
gnomAD - Exomes	European	Sub	132944	T=0.021430	C=0.978570
gnomAD - Exomes	Asian	Sub	48984	T=0.02521	C=0.97479
gnomAD - Exomes	American	Sub	34422	T=0.03367	C=0.96633
gnomAD - Exomes	African	Sub	16190	T=0.00408	C=0.99592
gnomAD - Exomes	Ashkenazi Jewish	Sub	10038	T=0.00239	C=0.99761
gnomAD - Exomes	Other	Sub	6090	T=0.0202	C=0.9798
gnomAD - Genomes	Global	Study-wide	140284	T=0.016994	C=0.983006
gnomAD - Genomes	European	Sub	75948	T=0.02208	C=0.97792
gnomAD - Genomes	African	Sub	42058	T=0.00478	C=0.99522
gnomAD - Genomes	American	Sub	13668	T=0.03095	C=0.96905
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	T=0.0036	C=0.9964
gnomAD - Genomes	East Asian	Sub	3134	T=0.0137	C=0.9863
gnomAD - Genomes	Other	Sub	2152	T=0.0130	C=0.9870
ExAC	Global	Study-wide	120994	T=0.021513	C=0.978487
ExAC	Europe	Sub	73084	T=0.02073	C=0.97927
ExAC	Asian	Sub	25148	T=0.02597	C=0.97403
ExAC	American	Sub	11518	T=0.03221	C=0.96779
ExAC	African	Sub	10340	T=0.00416	C=0.99584
ExAC	Other	Sub	904	T=0.023	C=0.977
Allele Frequency Aggregator	Total	Global	30914	T=0.01524	C=0.98476
Allele Frequency Aggregator	European	Sub	22078	T=0.01694	C=0.98306
Allele Frequency Aggregator	African	Sub	4698	T=0.0051	C=0.9949
Allele Frequency Aggregator	Other	Sub	3040	T=0.0115	C=0.9885
Allele Frequency Aggregator	Latin American 2	Sub	664	T=0.041	C=0.959
Allele Frequency Aggregator	Asian	Sub	176	T=0.028	C=0.972
Allele Frequency Aggregator	Latin American 1	Sub	160	T=0.013	C=0.988
Allele Frequency Aggregator	South Asian	Sub	98	T=0.04	C=0.96
14KJPN	JAPANESE	Study-wide	28256	T=0.01136	C=0.98864
8.3KJPN	JAPANESE	Study-wide	16760	T=0.01158	C=0.98842
GO Exome Sequencing Project	Global	Study-wide	13006	T=0.01553	C=0.98447
GO Exome Sequencing Project	European American	Sub	8600	T=0.0214	C=0.9786
GO Exome Sequencing Project	African American	Sub	4406	T=0.0041	C=0.9959
1000Genomes_30x	Global	Study-wide	6404	T=0.0153	C=0.9847
1000Genomes_30x	African	Sub	1786	T=0.0000	C=1.0000
1000Genomes_30x	Europe	Sub	1266	T=0.0158	C=0.9842
1000Genomes_30x	South Asian	Sub	1202	T=0.0275	C=0.9725
1000Genomes_30x	East Asian	Sub	1170	T=0.0188	C=0.9812
1000Genomes_30x	American	Sub	980	T=0.023	C=0.977
1000Genomes	Global	Study-wide	5008	T=0.0166	C=0.9834
1000Genomes	African	Sub	1322	T=0.0000	C=1.0000
1000Genomes	East Asian	Sub	1008	T=0.0188	C=0.9812
1000Genomes	Europe	Sub	1006	T=0.0199	C=0.9801
1000Genomes	South Asian	Sub	978	T=0.025	C=0.975
1000Genomes	American	Sub	694	T=0.029	C=0.971
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.0181	C=0.9819
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.0223	C=0.9777
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.0200	C=0.9800
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.0130	A=0.0000, C=0.9870
Korean Genome Project	KOREAN	Study-wide	1832	T=0.0240	C=0.9760
HapMap	Global	Study-wide	1102	T=0.0172	C=0.9828
HapMap	American	Sub	672	T=0.019	C=0.981
HapMap	Asian	Sub	254	T=0.016	C=0.984
HapMap	Europe	Sub	176	T=0.011	C=0.989
A Vietnamese Genetic Variation Database	Global	Study-wide	608	T=0.015	C=0.985
Northern Sweden	ACPOP	Study-wide	600	T=0.028	C=0.972
SGDP_PRJ	Global	Study-wide	558	T=0.018	C=0.982
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	T=0.296	C=0.704
FINRISK	Finnish from FINRISK project	Study-wide	304	T=0.023	C=0.977
Qatari	Global	Study-wide	216	T=0.014	C=0.986
Siberian	Global	Study-wide	56	T=0.00	C=1.00
The Danish reference pan genome	Danish	Study-wide	40	T=0.00	C=1.00

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.100352908T>A
GRCh38.p14 chr 1	NC_000001.11:g.100352908T>C
GRCh37.p13 chr 1	NC_000001.10:g.100818464T>A
GRCh37.p13 chr 1	NC_000001.10:g.100818464T>C
CDC14A RefSeqGene (LRG_1418)	NG_051602.2:g.12908T>A
CDC14A RefSeqGene (LRG_1418)	NG_051602.2:g.12908T>C

Gene: CDC14A, cell division cycle 14A (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
CDC14A transcript variant 5	NM_001319211.2:c.-125-854… NM_001319211.2:c.-125-854T>A	N/A	Intron Variant
CDC14A transcript variant 1	NM_003672.4:c.-47=	N/A	5 Prime UTR Variant
CDC14A transcript variant 4	NM_001319210.2:c.-47=	N/A	5 Prime UTR Variant
CDC14A transcript variant 2	NM_033312.3:c.-47=	N/A	5 Prime UTR Variant
CDC14A transcript variant 3	NM_033313.3:c.-47=	N/A	5 Prime UTR Variant
CDC14A transcript variant 6	NM_001319212.2:c.-838=	N/A	5 Prime UTR 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: T= (allele ID: 497916 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000605267.1	not specified	Likely-Benign

Allele: C (allele ID: 1182541 )

ClinVar Accession	Disease Names	Clinical Significance
RCV001554859.2	Autosomal recessive nonsyndromic hearing loss 32	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=	A	C
GRCh38.p14 chr 1	NC_000001.11:g.100352908=	NC_000001.11:g.100352908T>A	NC_000001.11:g.100352908T>C
GRCh37.p13 chr 1	NC_000001.10:g.100818464=	NC_000001.10:g.100818464T>A	NC_000001.10:g.100818464T>C
CDC14A RefSeqGene (LRG_1418)	NG_051602.2:g.12908=	NG_051602.2:g.12908T>A	NG_051602.2:g.12908T>C
CDC14A transcript variant 1	NM_003672.4:c.-47=	NM_003672.4:c.-47T>A	NM_003672.4:c.-47T>C
CDC14A transcript variant 1	NM_003672.3:c.-47C>T	NM_003672.3:c.-47C>A	NM_003672.3:c.-47=
CDC14A transcript variant 3	NM_033313.3:c.-47=	NM_033313.3:c.-47T>A	NM_033313.3:c.-47T>C
CDC14A transcript variant 3	NM_033313.2:c.-47C>T	NM_033313.2:c.-47C>A	NM_033313.2:c.-47=
CDC14A transcript variant 2	NM_033312.3:c.-47=	NM_033312.3:c.-47T>A	NM_033312.3:c.-47T>C
CDC14A transcript variant 2	NM_033312.2:c.-47C>T	NM_033312.2:c.-47C>A	NM_033312.2:c.-47=
CDC14A transcript variant 4	NM_001319210.2:c.-47=	NM_001319210.2:c.-47T>A	NM_001319210.2:c.-47T>C
CDC14A transcript variant 4	NM_001319210.1:c.-47C>T	NM_001319210.1:c.-47C>A	NM_001319210.1:c.-47=
CDC14A transcript variant 6	NM_001319212.2:c.-838=	NM_001319212.2:c.-838T>A	NM_001319212.2:c.-838T>C
CDC14A transcript variant 6	NM_001319212.1:c.-838C>T	NM_001319212.1:c.-838C>A	NM_001319212.1:c.-838=
CDC14A transcript variant 5	NM_001319211.2:c.-125-854=	NM_001319211.2:c.-125-854T>A	NM_001319211.2:c.-125-854T>C
CDC14A transcript variant X1	XM_005271294.1:c.53-854=	XM_005271294.1:c.53-854T>A	XM_005271294.1:c.53-854T>C
CDC14A transcript variant X3	XM_005271296.1:c.53-854=	XM_005271296.1:c.53-854T>A	XM_005271296.1:c.53-854T>C
CDC14A transcript variant X4	XM_005271297.1:c.-125-854=	XM_005271297.1:c.-125-854T>A	XM_005271297.1:c.-125-854T>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#.

109 SubSNP, 24 Frequency, 2 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	SC_JCM	ss766372	Aug 11, 2000 (83)
2	KWOK	ss1075925	Oct 04, 2000 (86)
3	KWOK	ss1767467	Oct 18, 2000 (87)
4	BCM_SSAHASNP	ss9812257	Jul 11, 2003 (116)
5	SC_SNP	ss15393797	Feb 27, 2004 (120)
6	CSHL-HAPMAP	ss17348293	Feb 27, 2004 (120)
7	SSAHASNP	ss20572204	Apr 05, 2004 (121)
8	EGP_SNPS	ss35035690	May 24, 2005 (125)
9	ABI	ss43828493	Mar 13, 2006 (126)
10	PERLEGEN	ss46535932	Mar 13, 2006 (126)
11	ILLUMINA	ss75266022	Dec 06, 2007 (129)
12	HGSV	ss86008215	Dec 14, 2007 (130)
13	BCMHGSC_JDW	ss87659576	Mar 23, 2008 (129)
14	HUMANGENOME_JCVI	ss99232953	Feb 04, 2009 (130)
15	BGI	ss106589903	Feb 04, 2009 (130)
16	1000GENOMES	ss110899503	Jan 25, 2009 (130)
17	ILLUMINA-UK	ss118922544	Feb 14, 2009 (130)
18	KRIBB_YJKIM	ss119359462	Dec 01, 2009 (131)
19	ENSEMBL	ss138045946	Dec 01, 2009 (131)
20	GMI	ss155422315	Dec 01, 2009 (131)
21	COMPLETE_GENOMICS	ss164878787	Jul 04, 2010 (132)
22	COMPLETE_GENOMICS	ss166908677	Jul 04, 2010 (132)
23	ILLUMINA	ss173946213	Jul 04, 2010 (132)
24	BUSHMAN	ss198838379	Jul 04, 2010 (132)
25	BCM-HGSC-SUB	ss205402727	Jul 04, 2010 (132)
26	1000GENOMES	ss218551486	Jul 14, 2010 (132)
27	1000GENOMES	ss230658785	Jul 14, 2010 (132)
28	1000GENOMES	ss238325145	Jul 15, 2010 (132)
29	BL	ss253319445	May 09, 2011 (134)
30	GMI	ss275946972	May 04, 2012 (137)
31	PJP	ss290581467	May 09, 2011 (134)
32	1000GENOMES	ss489754272	May 04, 2012 (137)
33	CLINSEQ_SNP	ss491598919	May 04, 2012 (137)
34	TISHKOFF	ss554485496	Apr 25, 2013 (138)
35	SSMP	ss648257305	Apr 25, 2013 (138)
36	NHLBI-ESP	ss712327057	Apr 25, 2013 (138)
37	JMKIDD_LAB	ss974436314	Aug 21, 2014 (142)
38	EVA-GONL	ss975488810	Aug 21, 2014 (142)
39	JMKIDD_LAB	ss1067423677	Aug 21, 2014 (142)
40	JMKIDD_LAB	ss1068131296	Aug 21, 2014 (142)
41	1000GENOMES	ss1292127095	Aug 21, 2014 (142)
42	DDI	ss1425912563	Apr 01, 2015 (144)
43	EVA_GENOME_DK	ss1574274934	Apr 01, 2015 (144)
44	EVA_FINRISK	ss1584009575	Apr 01, 2015 (144)
45	EVA_DECODE	ss1584866815	Apr 01, 2015 (144)
46	EVA_UK10K_ALSPAC	ss1600827724	Apr 01, 2015 (144)
47	EVA_UK10K_TWINSUK	ss1643821757	Apr 01, 2015 (144)
48	EVA_EXAC	ss1685656447	Apr 01, 2015 (144)
49	EVA_MGP	ss1710913575	Apr 01, 2015 (144)
50	EVA_SVP	ss1712357563	Apr 01, 2015 (144)
51	HAMMER_LAB	ss1794814799	Sep 08, 2015 (146)
52	WEILL_CORNELL_DGM	ss1918687773	Feb 12, 2016 (147)
53	JJLAB	ss2019865779	Sep 14, 2016 (149)
54	USC_VALOUEV	ss2147884283	Dec 20, 2016 (150)
55	HUMAN_LONGEVITY	ss2165073383	Dec 20, 2016 (150)
56	SYSTEMSBIOZJU	ss2624443877	Nov 08, 2017 (151)
57	GRF	ss2697811481	Nov 08, 2017 (151)
58	GNOMAD	ss2731666834	Nov 08, 2017 (151)
59	GNOMAD	ss2746381251	Nov 08, 2017 (151)
60	GNOMAD	ss2758695257	Nov 08, 2017 (151)
61	SWEGEN	ss2987313890	Nov 08, 2017 (151)
62	BIOINF_KMB_FNS_UNIBA	ss3023696129	Nov 08, 2017 (151)
63	CSHL	ss3343597984	Nov 08, 2017 (151)
64	ILLUMINA	ss3637775785	Oct 11, 2018 (152)
65	ILLUMINA	ss3642785956	Oct 11, 2018 (152)
66	OMUKHERJEE_ADBS	ss3646233804	Oct 11, 2018 (152)
67	URBANLAB	ss3646732564	Oct 11, 2018 (152)
68	EGCUT_WGS	ss3655399569	Jul 12, 2019 (153)
69	EVA_DECODE	ss3687377327	Jul 12, 2019 (153)
70	ACPOP	ss3727318794	Jul 12, 2019 (153)
71	EVA	ss3746579823	Jul 12, 2019 (153)
72	PACBIO	ss3783497556	Jul 12, 2019 (153)
73	PACBIO	ss3789142264	Jul 12, 2019 (153)
74	PACBIO	ss3794015111	Jul 12, 2019 (153)
75	KHV_HUMAN_GENOMES	ss3799580654	Jul 12, 2019 (153)
76	EVA	ss3823634839	Apr 25, 2020 (154)
77	EVA	ss3825570323	Apr 25, 2020 (154)
78	EVA	ss3826329408	Apr 25, 2020 (154)
79	EVA	ss3836554709	Apr 25, 2020 (154)
80	EVA	ss3841962733	Apr 25, 2020 (154)
81	SGDP_PRJ	ss3849487758	Apr 25, 2020 (154)
82	KRGDB	ss3894567018	Apr 25, 2020 (154)
83	KOGIC	ss3945100790	Apr 25, 2020 (154)
84	FSA-LAB	ss3983938624	Apr 25, 2021 (155)
85	FSA-LAB	ss3983938625	Apr 25, 2021 (155)
86	EVA	ss3986011543	Apr 25, 2021 (155)
87	EVA	ss3986128930	Apr 25, 2021 (155)
88	EVA	ss4016927985	Apr 25, 2021 (155)
89	TOPMED	ss4460878091	Apr 25, 2021 (155)
90	TOMMO_GENOMICS	ss5145336123	Apr 25, 2021 (155)
91	EVA	ss5237162833	Apr 25, 2021 (155)
92	1000G_HIGH_COVERAGE	ss5243338726	Oct 12, 2022 (156)
93	EVA	ss5320704273	Oct 12, 2022 (156)
94	HUGCELL_USP	ss5444289948	Oct 12, 2022 (156)
95	1000G_HIGH_COVERAGE	ss5516189884	Oct 12, 2022 (156)
96	EVA	ss5623915433	Oct 12, 2022 (156)
97	EVA	ss5623994955	Oct 12, 2022 (156)
98	SANFORD_IMAGENETICS	ss5626141575	Oct 12, 2022 (156)
99	TOMMO_GENOMICS	ss5670502341	Oct 12, 2022 (156)
100	EVA	ss5800083523	Oct 12, 2022 (156)
101	YY_MCH	ss5800863971	Oct 12, 2022 (156)
102	EVA	ss5832379058	Oct 12, 2022 (156)
103	EVA	ss5848266339	Oct 12, 2022 (156)
104	EVA	ss5849035568	Oct 12, 2022 (156)
105	EVA	ss5909493335	Oct 12, 2022 (156)
106	EVA	ss5936510894	Oct 12, 2022 (156)
107	EVA	ss5938003275	Oct 12, 2022 (156)
108	EVA	ss5979974122	Oct 12, 2022 (156)
109	EVA	ss5981195343	Oct 12, 2022 (156)
110	1000Genomes	NC_000001.10 - 100818464	Oct 11, 2018 (152)
111	1000Genomes_30x	NC_000001.11 - 100352908	Oct 12, 2022 (156)
112	The Avon Longitudinal Study of Parents and Children	NC_000001.10 - 100818464	Oct 11, 2018 (152)
113	Genetic variation in the Estonian population	NC_000001.10 - 100818464	Oct 11, 2018 (152)
114	ExAC	NC_000001.10 - 100818464	Oct 11, 2018 (152)
115	FINRISK	NC_000001.10 - 100818464	Apr 25, 2020 (154)
116	The Danish reference pan genome	NC_000001.10 - 100818464	Apr 25, 2020 (154)
117	gnomAD - Genomes	NC_000001.11 - 100352908	Apr 25, 2021 (155)
118	gnomAD - Exomes	NC_000001.10 - 100818464	Jul 12, 2019 (153)
119	GO Exome Sequencing Project	NC_000001.10 - 100818464	Oct 11, 2018 (152)
120	HapMap	NC_000001.11 - 100352908	Apr 25, 2020 (154)
121	KOREAN population from KRGDB	NC_000001.10 - 100818464	Apr 25, 2020 (154)
122	Korean Genome Project	NC_000001.11 - 100352908	Apr 25, 2020 (154)
123	Medical Genome Project healthy controls from Spanish population	NC_000001.10 - 100818464	Apr 25, 2020 (154)
124	Northern Sweden	NC_000001.10 - 100818464	Jul 12, 2019 (153)
125	Qatari	NC_000001.10 - 100818464	Apr 25, 2020 (154)
126	SGDP_PRJ	NC_000001.10 - 100818464	Apr 25, 2020 (154)
127	Siberian	NC_000001.10 - 100818464	Apr 25, 2020 (154)
128	8.3KJPN	NC_000001.10 - 100818464	Apr 25, 2021 (155)
129	14KJPN	NC_000001.11 - 100352908	Oct 12, 2022 (156)
130	TopMed	NC_000001.11 - 100352908	Apr 25, 2021 (155)
131	UK 10K study - Twins	NC_000001.10 - 100818464	Oct 11, 2018 (152)
132	A Vietnamese Genetic Variation Database	NC_000001.10 - 100818464	Jul 12, 2019 (153)
133	ALFA	NC_000001.11 - 100352908	Apr 25, 2021 (155)
134	ClinVar	RCV000605267.1	Oct 11, 2018 (152)
135	ClinVar	RCV001554859.2	Oct 12, 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).

Associated ID	History Updated (Build)
rs57453326	May 23, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
1744412, ss3894567018	NC_000001.10:100818463:T:A	NC_000001.11:100352907:T:A	(self)
ss86008215	NC_000001.8:100530484:T:C	NC_000001.11:100352907:T:C	(self)
ss87659576, ss110899503, ss118922544, ss164878787, ss166908677, ss198838379, ss205402727, ss253319445, ss275946972, ss290581467, ss491598919, ss1584866815, ss1712357563, ss3642785956	NC_000001.9:100591051:T:C	NC_000001.11:100352907:T:C	(self)
2891523, 1595888, 1137817, 4863072, 6036, 1630916, 688943, 93470, 1744412, 30327, 603659, 729703, 1504738, 400637, 3305430, 1595888, 343615, ss218551486, ss230658785, ss238325145, ss489754272, ss554485496, ss648257305, ss712327057, ss974436314, ss975488810, ss1067423677, ss1068131296, ss1292127095, ss1425912563, ss1574274934, ss1584009575, ss1600827724, ss1643821757, ss1685656447, ss1710913575, ss1794814799, ss1918687773, ss2019865779, ss2147884283, ss2624443877, ss2697811481, ss2731666834, ss2746381251, ss2758695257, ss2987313890, ss3343597984, ss3637775785, ss3646233804, ss3655399569, ss3727318794, ss3746579823, ss3783497556, ss3789142264, ss3794015111, ss3823634839, ss3825570323, ss3826329408, ss3836554709, ss3849487758, ss3894567018, ss3983938624, ss3983938625, ss3986011543, ss3986128930, ss4016927985, ss5145336123, ss5320704273, ss5623915433, ss5623994955, ss5626141575, ss5800083523, ss5832379058, ss5848266339, ss5936510894, ss5938003275, ss5979974122, ss5981195343	NC_000001.10:100818463:T:C	NC_000001.11:100352907:T:C	(self)
RCV001554859.2, 3715819, 20444763, 137690, 1478791, 4339445, 24484426, 211007204, ss2165073383, ss3023696129, ss3646732564, ss3687377327, ss3799580654, ss3841962733, ss3945100790, ss4460878091, ss5237162833, ss5243338726, ss5444289948, ss5516189884, ss5670502341, ss5800863971, ss5849035568, ss5909493335	NC_000001.11:100352907:T:C	NC_000001.11:100352907:T:C	(self)
ss9812257	NT_028050.12:1692134:T:C	NC_000001.11:100352907:T:C	(self)
ss15393797, ss17348293, ss20572204	NT_028050.13:9007407:T:C	NC_000001.11:100352907:T:C	(self)
ss766372, ss1075925, ss1767467, ss35035690, ss43828493, ss46535932, ss75266022, ss99232953, ss106589903, ss119359462, ss138045946, ss155422315, ss173946213	NT_032977.9:70790381:T:C	NC_000001.11:100352907:T:C	(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 rs594529

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
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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.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs594529