Name: rs1709544
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.

rs1709544

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr5:674806 (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>T
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.277049 (73332/264690, TOPMED)
C=0.364029 (54280/149109, ALFA)
C=0.294596 (41079/139442, GnomAD) (+ 18 more)
C=0.46103 (13026/28254, 14KJPN)
C=0.46180 (7738/16756, 8.3KJPN)
C=0.2541 (1627/6404, 1000G_30x)
C=0.2558 (1281/5008, 1000G)
C=0.3695 (1424/3854, ALSPAC)
C=0.3789 (1405/3708, TWINSUK)
C=0.3822 (1119/2928, KOREAN)
C=0.2967 (616/2076, HGDP_Stanford)
C=0.3883 (709/1826, Korea1K)
C=0.1941 (309/1592, HapMap)
C=0.409 (323/790, PRJEB37584)
C=0.408 (245/600, NorthernSweden)
C=0.219 (107/488, SGDP_PRJ)
C=0.287 (62/216, Qatari)
C=0.311 (66/212, Vietnamese)
C=0.43 (20/46, Ancient Sardinia)
C=0.32 (14/44, Siberian)
C=0.40 (16/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: TPPP : Intron Variant
CEP72 : 3 Prime UTR 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	149109	C=0.364029	T=0.635971
European	Sub	136083	C=0.376770	T=0.623230
African	Sub	4540	C=0.0813	T=0.9187
African Others	Sub	170	C=0.018	T=0.982
African American	Sub	4370	C=0.0838	T=0.9162
Asian	Sub	190	C=0.279	T=0.721
East Asian	Sub	150	C=0.327	T=0.673
Other Asian	Sub	40	C=0.10	T=0.90
Latin American 1	Sub	258	C=0.302	T=0.698
Latin American 2	Sub	1244	C=0.3079	T=0.6921
South Asian	Sub	4952	C=0.3195	T=0.6805
Other	Sub	1842	C=0.2948	T=0.7052

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	C=0.277049	T=0.722951
Allele Frequency Aggregator	Total	Global	149109	C=0.364029	T=0.635971
Allele Frequency Aggregator	European	Sub	136083	C=0.376770	T=0.623230
Allele Frequency Aggregator	South Asian	Sub	4952	C=0.3195	T=0.6805
Allele Frequency Aggregator	African	Sub	4540	C=0.0813	T=0.9187
Allele Frequency Aggregator	Other	Sub	1842	C=0.2948	T=0.7052
Allele Frequency Aggregator	Latin American 2	Sub	1244	C=0.3079	T=0.6921
Allele Frequency Aggregator	Latin American 1	Sub	258	C=0.302	T=0.698
Allele Frequency Aggregator	Asian	Sub	190	C=0.279	T=0.721
gnomAD - Genomes	Global	Study-wide	139442	C=0.294596	T=0.705404
gnomAD - Genomes	European	Sub	75704	C=0.39534	T=0.60466
gnomAD - Genomes	African	Sub	41546	C=0.08564	T=0.91436
gnomAD - Genomes	American	Sub	13614	C=0.34531	T=0.65469
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	C=0.3191	T=0.6809
gnomAD - Genomes	East Asian	Sub	3114	C=0.3844	T=0.6156
gnomAD - Genomes	Other	Sub	2142	C=0.2960	T=0.7040
14KJPN	JAPANESE	Study-wide	28254	C=0.46103	T=0.53897
8.3KJPN	JAPANESE	Study-wide	16756	C=0.46180	T=0.53820
1000Genomes_30x	Global	Study-wide	6404	C=0.2541	T=0.7459
1000Genomes_30x	African	Sub	1786	C=0.0319	T=0.9681
1000Genomes_30x	Europe	Sub	1266	C=0.3697	T=0.6303
1000Genomes_30x	South Asian	Sub	1202	C=0.3170	T=0.6830
1000Genomes_30x	East Asian	Sub	1170	C=0.3624	T=0.6376
1000Genomes_30x	American	Sub	980	C=0.303	T=0.697
1000Genomes	Global	Study-wide	5008	C=0.2558	T=0.7442
1000Genomes	African	Sub	1322	C=0.0340	T=0.9660
1000Genomes	East Asian	Sub	1008	C=0.3591	T=0.6409
1000Genomes	Europe	Sub	1006	C=0.3628	T=0.6372
1000Genomes	South Asian	Sub	978	C=0.307	T=0.693
1000Genomes	American	Sub	694	C=0.301	T=0.699
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.3695	T=0.6305
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.3789	T=0.6211
KOREAN population from KRGDB	KOREAN	Study-wide	2928	C=0.3822	A=0.0000, T=0.6178
HGDP-CEPH-db Supplement 1	Global	Study-wide	2076	C=0.2967	T=0.7033
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	468	C=0.374	T=0.626
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	C=0.295	T=0.705
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	348	C=0.287	T=0.713
HGDP-CEPH-db Supplement 1	Europe	Sub	320	C=0.366	T=0.634
HGDP-CEPH-db Supplement 1	Africa	Sub	240	C=0.017	T=0.983
HGDP-CEPH-db Supplement 1	America	Sub	214	C=0.313	T=0.687
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	C=0.43	T=0.57
Korean Genome Project	KOREAN	Study-wide	1826	C=0.3883	T=0.6117
HapMap	Global	Study-wide	1592	C=0.1941	T=0.8059
HapMap	African	Sub	692	C=0.040	T=0.960
HapMap	American	Sub	654	C=0.283	T=0.717
HapMap	Asian	Sub	246	C=0.390	T=0.610
CNV burdens in cranial meningiomas	Global	Study-wide	790	C=0.409	T=0.591
CNV burdens in cranial meningiomas	CRM	Sub	790	C=0.409	T=0.591
Northern Sweden	ACPOP	Study-wide	600	C=0.408	T=0.592
SGDP_PRJ	Global	Study-wide	488	C=0.219	T=0.781
Qatari	Global	Study-wide	216	C=0.287	T=0.713
A Vietnamese Genetic Variation Database	Global	Study-wide	212	C=0.311	T=0.689
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	46	C=0.43	T=0.57
Siberian	Global	Study-wide	44	C=0.32	T=0.68
The Danish reference pan genome	Danish	Study-wide	40	C=0.40	T=0.60

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 5	NC_000005.10:g.674806C>A
GRCh38.p14 chr 5	NC_000005.10:g.674806C>T
GRCh37.p13 chr 5	NC_000005.9:g.674921C>A
GRCh37.p13 chr 5	NC_000005.9:g.674921C>T

Gene: TPPP, tubulin polymerization promoting protein (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
TPPP transcript	NM_007030.3:c.311+2944G>T	N/A	Intron Variant
TPPP transcript variant X1	XM_017008993.2:c.512+2944… XM_017008993.2:c.512+2944G>T	N/A	Intron Variant
TPPP transcript variant X3	XM_024454346.1:c.311+2944… XM_024454346.1:c.311+2944G>T	N/A	Intron Variant
TPPP transcript variant X2	XM_047416674.1:c.311+2944… XM_047416674.1:c.311+2944G>T	N/A	Intron Variant

Gene: CEP72, centrosomal protein 72 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
CEP72 transcript variant 1	NM_018140.4:c.	N/A	Genic Downstream Transcript Variant
CEP72 transcript variant 2	NR_164122.1:n.	N/A	Genic Downstream Transcript Variant
CEP72 transcript variant X1	XM_047417363.1:c.*12443=	N/A	3 Prime UTR Variant
CEP72 transcript variant X2	XM_047417364.1:c.*10179=	N/A	3 Prime UTR Variant
CEP72 transcript variant X3	XM_047417365.1:c.*10020=	N/A	3 Prime UTR Variant
CEP72 transcript variant X5	XM_011514063.2:c.*9891=	N/A	3 Prime UTR Variant
CEP72 transcript variant X6	XM_005248322.4:c.*12443=	N/A	3 Prime UTR Variant
CEP72 transcript variant X7	XM_011514064.3:c.*12443=	N/A	3 Prime UTR Variant
CEP72 transcript variant X8	XM_047417367.1:c.*12443=	N/A	3 Prime UTR Variant
CEP72 transcript variant X9	XM_047417368.1:c.*12443=	N/A	3 Prime UTR Variant
CEP72 transcript variant X4	XM_047417366.1:c.	N/A	Genic Downstream 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	C=	A	T
GRCh38.p14 chr 5	NC_000005.10:g.674806=	NC_000005.10:g.674806C>A	NC_000005.10:g.674806C>T
GRCh37.p13 chr 5	NC_000005.9:g.674921=	NC_000005.9:g.674921C>A	NC_000005.9:g.674921C>T
CEP72 transcript variant X6	XM_005248322.4:c.*12443=	XM_005248322.4:c.*12443C>A	XM_005248322.4:c.*12443C>T
CEP72 transcript variant X7	XM_011514064.3:c.*12443=	XM_011514064.3:c.*12443C>A	XM_011514064.3:c.*12443C>T
CEP72 transcript variant X5	XM_011514063.2:c.*9891=	XM_011514063.2:c.*9891C>A	XM_011514063.2:c.*9891C>T
CEP72 transcript variant X1	XM_047417363.1:c.*12443=	XM_047417363.1:c.*12443C>A	XM_047417363.1:c.*12443C>T
CEP72 transcript variant X8	XM_047417367.1:c.*12443=	XM_047417367.1:c.*12443C>A	XM_047417367.1:c.*12443C>T
CEP72 transcript variant X9	XM_047417368.1:c.*12443=	XM_047417368.1:c.*12443C>A	XM_047417368.1:c.*12443C>T
CEP72 transcript variant X2	XM_047417364.1:c.*10179=	XM_047417364.1:c.*10179C>A	XM_047417364.1:c.*10179C>T
CEP72 transcript variant X3	XM_047417365.1:c.*10020=	XM_047417365.1:c.*10020C>A	XM_047417365.1:c.*10020C>T
TPPP transcript	NM_007030.2:c.311+2944=	NM_007030.2:c.311+2944G>T	NM_007030.2:c.311+2944G>A
TPPP transcript	NM_007030.3:c.311+2944=	NM_007030.3:c.311+2944G>T	NM_007030.3:c.311+2944G>A
TPPP transcript variant X1	XM_005248237.1:c.587+2944=	XM_005248237.1:c.587+2944G>T	XM_005248237.1:c.587+2944G>A
TPPP transcript variant X1	XM_017008993.2:c.512+2944=	XM_017008993.2:c.512+2944G>T	XM_017008993.2:c.512+2944G>A
TPPP transcript variant X3	XM_024454346.1:c.311+2944=	XM_024454346.1:c.311+2944G>T	XM_024454346.1:c.311+2944G>A
TPPP transcript variant X2	XM_047416674.1:c.311+2944=	XM_047416674.1:c.311+2944G>T	XM_047416674.1:c.311+2944G>A

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#.

110 SubSNP, 21 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_JCM	ss2545091	Nov 09, 2000 (89)
2	WI_SSAHASNP	ss14636088	Dec 05, 2003 (119)
3	SSAHASNP	ss22322096	Apr 05, 2004 (121)
4	ILLUMINA	ss66706180	Nov 30, 2006 (127)
5	ILLUMINA	ss67176159	Nov 30, 2006 (127)
6	ILLUMINA	ss67534692	Nov 30, 2006 (127)
7	ILLUMINA	ss70450494	May 17, 2007 (127)
8	ILLUMINA	ss70654185	May 24, 2008 (130)
9	ILLUMINA	ss71213125	May 17, 2007 (127)
10	ILLUMINA	ss75649132	Dec 06, 2007 (129)
11	HGSV	ss80906085	Dec 15, 2007 (130)
12	KRIBB_YJKIM	ss83864159	Dec 15, 2007 (130)
13	HUMANGENOME_JCVI	ss98688519	Feb 05, 2009 (130)
14	BGI	ss105899709	Feb 05, 2009 (130)
15	1000GENOMES	ss108729506	Jan 23, 2009 (130)
16	1000GENOMES	ss111285099	Jan 25, 2009 (130)
17	ILLUMINA-UK	ss116425711	Feb 14, 2009 (130)
18	ILLUMINA	ss121785860	Dec 01, 2009 (131)
19	ENSEMBL	ss139925118	Dec 01, 2009 (131)
20	ILLUMINA	ss153623585	Dec 01, 2009 (131)
21	GMI	ss154904249	Dec 01, 2009 (131)
22	ILLUMINA	ss159307768	Dec 01, 2009 (131)
23	COMPLETE_GENOMICS	ss161943251	Jul 04, 2010 (132)
24	COMPLETE_GENOMICS	ss165988624	Jul 04, 2010 (132)
25	ILLUMINA	ss170747926	Jul 04, 2010 (132)
26	ILLUMINA	ss172742447	Jul 04, 2010 (132)
27	BUSHMAN	ss199759599	Jul 04, 2010 (132)
28	BCM-HGSC-SUB	ss207169485	Jul 04, 2010 (132)
29	1000GENOMES	ss221463727	Jul 14, 2010 (132)
30	1000GENOMES	ss232790023	Jul 14, 2010 (132)
31	1000GENOMES	ss239995245	Jul 15, 2010 (132)
32	BL	ss253143243	May 09, 2011 (134)
33	GMI	ss278130987	May 04, 2012 (137)
34	PJP	ss293339328	May 09, 2011 (134)
35	ILLUMINA	ss410911738	Sep 17, 2011 (135)
36	ILLUMINA	ss480178221	May 04, 2012 (137)
37	ILLUMINA	ss480187948	May 04, 2012 (137)
38	ILLUMINA	ss484887147	May 04, 2012 (137)
39	TISHKOFF	ss558142694	Apr 25, 2013 (138)
40	SSMP	ss651985115	Apr 25, 2013 (138)
41	ILLUMINA	ss782889925	Sep 08, 2015 (146)
42	ILLUMINA	ss825419227	Apr 01, 2015 (144)
43	ILLUMINA	ss832144437	Sep 08, 2015 (146)
44	ILLUMINA	ss832819835	Jul 13, 2019 (153)
45	EVA-GONL	ss981157818	Aug 21, 2014 (142)
46	JMKIDD_LAB	ss1072322332	Aug 21, 2014 (142)
47	1000GENOMES	ss1313577460	Aug 21, 2014 (142)
48	DDI	ss1430214175	Apr 01, 2015 (144)
49	EVA_GENOME_DK	ss1580973997	Apr 01, 2015 (144)
50	EVA_UK10K_ALSPAC	ss1612099915	Apr 01, 2015 (144)
51	EVA_UK10K_TWINSUK	ss1655093948	Apr 01, 2015 (144)
52	EVA_SVP	ss1712736650	Apr 01, 2015 (144)
53	ILLUMINA	ss1752582222	Sep 08, 2015 (146)
54	HAMMER_LAB	ss1802907504	Sep 08, 2015 (146)
55	WEILL_CORNELL_DGM	ss1924412445	Feb 12, 2016 (147)
56	JJLAB	ss2022800438	Sep 14, 2016 (149)
57	ILLUMINA	ss2094937621	Dec 20, 2016 (150)
58	ILLUMINA	ss2095152733	Dec 20, 2016 (150)
59	USC_VALOUEV	ss2150949619	Dec 20, 2016 (150)
60	HUMAN_LONGEVITY	ss2270723924	Dec 20, 2016 (150)
61	ILLUMINA	ss2634233332	Nov 08, 2017 (151)
62	ILLUMINA	ss2635140251	Nov 08, 2017 (151)
63	GRF	ss2706469404	Nov 08, 2017 (151)
64	BIOINF_KMB_FNS_UNIBA	ss3025183190	Nov 08, 2017 (151)
65	CSHL	ss3346196294	Nov 08, 2017 (151)
66	ILLUMINA	ss3634082180	Oct 12, 2018 (152)
67	ILLUMINA	ss3634987114	Oct 12, 2018 (152)
68	ILLUMINA	ss3635764488	Oct 12, 2018 (152)
69	ILLUMINA	ss3637517081	Oct 12, 2018 (152)
70	ILLUMINA	ss3638533525	Oct 12, 2018 (152)
71	ILLUMINA	ss3639269248	Oct 12, 2018 (152)
72	ILLUMINA	ss3639657293	Oct 12, 2018 (152)
73	ILLUMINA	ss3640694407	Oct 12, 2018 (152)
74	ILLUMINA	ss3643481076	Oct 12, 2018 (152)
75	URBANLAB	ss3647963715	Oct 12, 2018 (152)
76	ILLUMINA	ss3652949888	Oct 12, 2018 (152)
77	EVA_DECODE	ss3713940677	Jul 13, 2019 (153)
78	ACPOP	ss3732011191	Jul 13, 2019 (153)
79	ILLUMINA	ss3745287289	Jul 13, 2019 (153)
80	EVA	ss3762958484	Jul 13, 2019 (153)
81	ILLUMINA	ss3772781675	Jul 13, 2019 (153)
82	PACBIO	ss3784997283	Jul 13, 2019 (153)
83	PACBIO	ss3790417512	Jul 13, 2019 (153)
84	PACBIO	ss3795293949	Jul 13, 2019 (153)
85	KHV_HUMAN_GENOMES	ss3806128064	Jul 13, 2019 (153)
86	EVA	ss3829049202	Apr 26, 2020 (154)
87	EVA	ss3837983820	Apr 26, 2020 (154)
88	EVA	ss3843426266	Apr 26, 2020 (154)
89	HGDP	ss3847778281	Apr 26, 2020 (154)
90	SGDP_PRJ	ss3861022946	Apr 26, 2020 (154)
91	KRGDB	ss3907457394	Apr 26, 2020 (154)
92	KOGIC	ss3955945059	Apr 26, 2020 (154)
93	EVA	ss3984541447	Apr 26, 2021 (155)
94	EVA	ss3985119371	Apr 26, 2021 (155)
95	EVA	ss4017188451	Apr 26, 2021 (155)
96	GNOMAD	ss4097977731	Apr 26, 2021 (155)
97	TOPMED	ss4646977765	Apr 26, 2021 (155)
98	TOMMO_GENOMICS	ss5170009466	Apr 26, 2021 (155)
99	1000G_HIGH_COVERAGE	ss5262583573	Oct 13, 2022 (156)
100	EVA	ss5355118075	Oct 13, 2022 (156)
101	HUGCELL_USP	ss5460965157	Oct 13, 2022 (156)
102	EVA	ss5507889493	Oct 13, 2022 (156)
103	1000G_HIGH_COVERAGE	ss5545493762	Oct 13, 2022 (156)
104	SANFORD_IMAGENETICS	ss5637011048	Oct 13, 2022 (156)
105	TOMMO_GENOMICS	ss5705576278	Oct 13, 2022 (156)
106	YY_MCH	ss5805944631	Oct 13, 2022 (156)
107	EVA	ss5834398559	Oct 13, 2022 (156)
108	EVA	ss5854642824	Oct 13, 2022 (156)
109	EVA	ss5892660734	Oct 13, 2022 (156)
110	EVA	ss5965421886	Oct 13, 2022 (156)
111	1000Genomes	NC_000005.9 - 674921	Oct 12, 2018 (152)
112	1000Genomes_30x	NC_000005.10 - 674806	Oct 13, 2022 (156)
113	The Avon Longitudinal Study of Parents and Children	NC_000005.9 - 674921	Oct 12, 2018 (152)
114	The Danish reference pan genome	NC_000005.9 - 674921	Apr 26, 2020 (154)
115	gnomAD - Genomes	NC_000005.10 - 674806	Apr 26, 2021 (155)
116	HGDP-CEPH-db Supplement 1	NC_000005.8 - 727921	Apr 26, 2020 (154)
117	HapMap	NC_000005.10 - 674806	Apr 26, 2020 (154)
118	KOREAN population from KRGDB	NC_000005.9 - 674921	Apr 26, 2020 (154)
119	Korean Genome Project	NC_000005.10 - 674806	Apr 26, 2020 (154)
120	Northern Sweden	NC_000005.9 - 674921	Jul 13, 2019 (153)
121	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000005.9 - 674921	Apr 26, 2021 (155)
122	CNV burdens in cranial meningiomas	NC_000005.9 - 674921	Apr 26, 2021 (155)
123	Qatari	NC_000005.9 - 674921	Apr 26, 2020 (154)
124	SGDP_PRJ	NC_000005.9 - 674921	Apr 26, 2020 (154)
125	Siberian	NC_000005.9 - 674921	Apr 26, 2020 (154)
126	8.3KJPN	NC_000005.9 - 674921	Apr 26, 2021 (155)
127	14KJPN	NC_000005.10 - 674806	Oct 13, 2022 (156)
128	TopMed	NC_000005.10 - 674806	Apr 26, 2021 (155)
129	UK 10K study - Twins	NC_000005.9 - 674921	Oct 12, 2018 (152)
130	A Vietnamese Genetic Variation Database	NC_000005.9 - 674921	Jul 13, 2019 (153)
131	ALFA	NC_000005.10 - 674806	Apr 26, 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)
rs58769315	May 24, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
14634788, ss3907457394	NC_000005.9:674920:C:A	NC_000005.10:674805:C:A	(self)
456173, ss80906085, ss108729506, ss111285099, ss116425711, ss161943251, ss165988624, ss199759599, ss207169485, ss253143243, ss278130987, ss293339328, ss480178221, ss825419227, ss1712736650, ss2094937621, ss2635140251, ss3639269248, ss3639657293, ss3643481076, ss3847778281	NC_000005.8:727920:C:T	NC_000005.10:674805:C:T	(self)
25120854, 13974214, 7138936, 14634788, 5296056, 345298, 90811, 6454375, 13039926, 3465973, 27978773, 13974214, 3098223, ss221463727, ss232790023, ss239995245, ss480187948, ss484887147, ss558142694, ss651985115, ss782889925, ss832144437, ss832819835, ss981157818, ss1072322332, ss1313577460, ss1430214175, ss1580973997, ss1612099915, ss1655093948, ss1752582222, ss1802907504, ss1924412445, ss2022800438, ss2095152733, ss2150949619, ss2634233332, ss2706469404, ss3346196294, ss3634082180, ss3634987114, ss3635764488, ss3637517081, ss3638533525, ss3640694407, ss3652949888, ss3732011191, ss3745287289, ss3762958484, ss3772781675, ss3784997283, ss3790417512, ss3795293949, ss3829049202, ss3837983820, ss3861022946, ss3907457394, ss3984541447, ss3985119371, ss4017188451, ss5170009466, ss5355118075, ss5507889493, ss5637011048, ss5834398559, ss5965421886	NC_000005.9:674920:C:T	NC_000005.10:674805:C:T	(self)
33019697, 177665425, 2789420, 12323060, 39413382, 484355322, 8285180481, ss2270723924, ss3025183190, ss3647963715, ss3713940677, ss3806128064, ss3843426266, ss3955945059, ss4097977731, ss4646977765, ss5262583573, ss5460965157, ss5545493762, ss5705576278, ss5805944631, ss5854642824, ss5892660734	NC_000005.10:674805:C:T	NC_000005.10:674805:C:T	(self)
ss2545091, ss66706180, ss67176159, ss67534692, ss70450494, ss70654185, ss71213125, ss75649132, ss83864159, ss98688519, ss105899709, ss121785860, ss139925118, ss153623585, ss154904249, ss159307768, ss170747926, ss172742447, ss410911738	NT_006576.16:664920:C:T	NC_000005.10:674805:C:T	(self)
ss14636088, ss22322096	NT_023089.13:657658:C:T	NC_000005.10:674805:C: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 rs1709544

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:

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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).
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs1709544