Name: rs1046276
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.

rs1046276

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr16:30903305 (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 / T>G
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.380124 (100615/264690, TOPMED)
T=0.377548 (52782/139802, GnomAD)
T=0.353281 (48309/136744, ALFA) (+ 17 more)
T=0.09516 (2689/28258, 14KJPN)
T=0.09642 (1616/16760, 8.3KJPN)
T=0.4205 (2693/6404, 1000G_30x)
T=0.4113 (2060/5008, 1000G)
T=0.3801 (1703/4480, Estonian)
T=0.3537 (1363/3854, ALSPAC)
T=0.3568 (1323/3708, TWINSUK)
T=0.0799 (234/2930, KOREAN)
T=0.3651 (682/1868, HapMap)
T=0.356 (355/998, GoNL)
T=0.350 (210/600, NorthernSweden)
T=0.217 (97/446, SGDP_PRJ)
T=0.301 (65/216, Qatari)
T=0.133 (28/210, Vietnamese)
T=0.41 (36/88, Ancient Sardinia)
T=0.20 (10/50, Siberian)
T=0.28 (11/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: CTF1 : Non Coding Transcript Variant
Publications: 2 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	136744	T=0.353281	C=0.646719	0.127435	0.420874	0.451691	5
European	Sub	117810	T=0.343103	C=0.656897	0.119531	0.433325	0.447144	2
African	Sub	9472	T=0.4510	C=0.5490	0.201647	0.29962	0.498733	0
African Others	Sub	310	T=0.426	C=0.574	0.180645	0.329032	0.490323	0
African American	Sub	9162	T=0.4519	C=0.5481	0.202358	0.298625	0.499018	0
Asian	Sub	504	T=0.125	C=0.875	0.02381	0.77381	0.202381	1
East Asian	Sub	404	T=0.082	C=0.918	0.00495	0.841584	0.153465	0
Other Asian	Sub	100	T=0.30	C=0.70	0.1	0.5	0.4	0
Latin American 1	Sub	688	T=0.426	C=0.574	0.19186	0.340116	0.468023	0
Latin American 2	Sub	3034	T=0.4314	C=0.5686	0.176664	0.313777	0.509558	2
South Asian	Sub	174	T=0.672	C=0.328	0.471264	0.126437	0.402299	0
Other	Sub	5062	T=0.3623	C=0.6377	0.132754	0.408139	0.459107	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=0.380124	C=0.619876
gnomAD - Genomes	Global	Study-wide	139802	T=0.377548	C=0.622452
gnomAD - Genomes	European	Sub	75752	T=0.35059	C=0.64941
gnomAD - Genomes	African	Sub	41850	T=0.45066	C=0.54934
gnomAD - Genomes	American	Sub	13604	T=0.39224	C=0.60776
gnomAD - Genomes	Ashkenazi Jewish	Sub	3314	T=0.2951	C=0.7049
gnomAD - Genomes	East Asian	Sub	3132	T=0.0884	C=0.9116
gnomAD - Genomes	Other	Sub	2150	T=0.3595	C=0.6405
Allele Frequency Aggregator	Total	Global	136744	T=0.353281	C=0.646719
Allele Frequency Aggregator	European	Sub	117810	T=0.343103	C=0.656897
Allele Frequency Aggregator	African	Sub	9472	T=0.4510	C=0.5490
Allele Frequency Aggregator	Other	Sub	5062	T=0.3623	C=0.6377
Allele Frequency Aggregator	Latin American 2	Sub	3034	T=0.4314	C=0.5686
Allele Frequency Aggregator	Latin American 1	Sub	688	T=0.426	C=0.574
Allele Frequency Aggregator	Asian	Sub	504	T=0.125	C=0.875
Allele Frequency Aggregator	South Asian	Sub	174	T=0.672	C=0.328
14KJPN	JAPANESE	Study-wide	28258	T=0.09516	C=0.90484
8.3KJPN	JAPANESE	Study-wide	16760	T=0.09642	C=0.90358
1000Genomes_30x	Global	Study-wide	6404	T=0.4205	C=0.5795
1000Genomes_30x	African	Sub	1786	T=0.4703	C=0.5297
1000Genomes_30x	Europe	Sub	1266	T=0.3586	C=0.6414
1000Genomes_30x	South Asian	Sub	1202	T=0.7379	C=0.2621
1000Genomes_30x	East Asian	Sub	1170	T=0.0932	C=0.9068
1000Genomes_30x	American	Sub	980	T=0.411	C=0.589
1000Genomes	Global	Study-wide	5008	T=0.4113	C=0.5887
1000Genomes	African	Sub	1322	T=0.4592	C=0.5408
1000Genomes	East Asian	Sub	1008	T=0.0942	C=0.9058
1000Genomes	Europe	Sub	1006	T=0.3519	C=0.6481
1000Genomes	South Asian	Sub	978	T=0.737	C=0.263
1000Genomes	American	Sub	694	T=0.408	C=0.592
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.3801	C=0.6199
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.3537	C=0.6463
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.3568	C=0.6432
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.0799	A=0.0000, C=0.9201, G=0.0000
HapMap	Global	Study-wide	1868	T=0.3651	C=0.6349
HapMap	American	Sub	762	T=0.361	C=0.639
HapMap	African	Sub	676	T=0.485	C=0.515
HapMap	Asian	Sub	254	T=0.079	C=0.921
HapMap	Europe	Sub	176	T=0.335	C=0.665
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.356	C=0.644
Northern Sweden	ACPOP	Study-wide	600	T=0.350	C=0.650
SGDP_PRJ	Global	Study-wide	446	T=0.217	C=0.783
Qatari	Global	Study-wide	216	T=0.301	C=0.699
A Vietnamese Genetic Variation Database	Global	Study-wide	210	T=0.133	C=0.867
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	88	T=0.41	C=0.59
Siberian	Global	Study-wide	50	T=0.20	C=0.80
The Danish reference pan genome	Danish	Study-wide	40	T=0.28	C=0.72

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.30903305T>A
GRCh38.p14 chr 16	NC_000016.10:g.30903305T>C
GRCh38.p14 chr 16	NC_000016.10:g.30903305T>G
GRCh37.p13 chr 16	NC_000016.9:g.30914626T>A
GRCh37.p13 chr 16	NC_000016.9:g.30914626T>C
GRCh37.p13 chr 16	NC_000016.9:g.30914626T>G
CTF1 RefSeqGene (LRG_408)	NG_009171.1:g.11699T>A
CTF1 RefSeqGene (LRG_408)	NG_009171.1:g.11699T>C
CTF1 RefSeqGene (LRG_408)	NG_009171.1:g.11699T>G

Gene: CTF1, cardiotrophin 1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
CTF1 transcript variant 2	NM_001142544.3:c.*766=	N/A	3 Prime UTR Variant
CTF1 transcript variant 1	NM_001330.5:c.*766=	N/A	3 Prime UTR Variant
CTF1 transcript variant 3	NR_165660.1:n.1510T>A	N/A	Non Coding Transcript Variant
CTF1 transcript variant 3	NR_165660.1:n.1510T>C	N/A	Non Coding Transcript Variant
CTF1 transcript variant 3	NR_165660.1:n.1510T>G	N/A	Non Coding Transcript Variant
CTF1 transcript variant X1	XM_011545759.3:c.*766=	N/A	3 Prime UTR Variant
CTF1 transcript variant X2	XM_011545760.3:c.*766=	N/A	3 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.

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	T=	A	C	G
GRCh38.p14 chr 16	NC_000016.10:g.30903305=	NC_000016.10:g.30903305T>A	NC_000016.10:g.30903305T>C	NC_000016.10:g.30903305T>G
GRCh37.p13 chr 16	NC_000016.9:g.30914626=	NC_000016.9:g.30914626T>A	NC_000016.9:g.30914626T>C	NC_000016.9:g.30914626T>G
CTF1 RefSeqGene (LRG_408)	NG_009171.1:g.11699=	NG_009171.1:g.11699T>A	NG_009171.1:g.11699T>C	NG_009171.1:g.11699T>G
CTF1 transcript variant 1	NM_001330.5:c.*766=	NM_001330.5:c.*766T>A	NM_001330.5:c.*766T>C	NM_001330.5:c.*766T>G
CTF1 transcript variant 1	NM_001330.4:c.*766=	NM_001330.4:c.*766T>A	NM_001330.4:c.*766T>C	NM_001330.4:c.*766T>G
CTF1 transcript variant 1	NM_001330.3:c.*766=	NM_001330.3:c.*766T>A	NM_001330.3:c.*766T>C	NM_001330.3:c.*766T>G
CTF1 transcript variant 2	NM_001142544.3:c.*766=	NM_001142544.3:c.*766T>A	NM_001142544.3:c.*766T>C	NM_001142544.3:c.*766T>G
CTF1 transcript variant 2	NM_001142544.2:c.*766=	NM_001142544.2:c.*766T>A	NM_001142544.2:c.*766T>C	NM_001142544.2:c.*766T>G
CTF1 transcript variant 2	NM_001142544.1:c.*766=	NM_001142544.1:c.*766T>A	NM_001142544.1:c.*766T>C	NM_001142544.1:c.*766T>G
CTF1 transcript variant 3	NR_165660.1:n.1510=	NR_165660.1:n.1510T>A	NR_165660.1:n.1510T>C	NR_165660.1:n.1510T>G
CTF1 transcript variant X1	XM_011545759.3:c.*766=	XM_011545759.3:c.*766T>A	XM_011545759.3:c.*766T>C	XM_011545759.3:c.*766T>G
CTF1 transcript variant X1	XM_011545759.2:c.*766=	XM_011545759.2:c.*766T>A	XM_011545759.2:c.*766T>C	XM_011545759.2:c.*766T>G
CTF1 transcript variant X1	XM_011545759.1:c.*766=	XM_011545759.1:c.*766T>A	XM_011545759.1:c.*766T>C	XM_011545759.1:c.*766T>G
CTF1 transcript variant X2	XM_011545760.3:c.*766=	XM_011545760.3:c.*766T>A	XM_011545760.3:c.*766T>C	XM_011545760.3:c.*766T>G
CTF1 transcript variant X2	XM_011545760.2:c.*766=	XM_011545760.2:c.*766T>A	XM_011545760.2:c.*766T>C	XM_011545760.2:c.*766T>G
CTF1 transcript variant X2	XM_011545760.1:c.*766=	XM_011545760.1:c.*766T>A	XM_011545760.1:c.*766T>C	XM_011545760.1:c.*766T>G

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#.

130 SubSNP, 20 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	LEE	ss1517303	Oct 05, 2000 (86)
2	HGBASE	ss2423455	Nov 14, 2000 (89)
3	CGAP-GAI	ss4321653	Jan 04, 2002 (102)
4	LEE	ss4392597	May 29, 2002 (106)
5	LEE	ss4409752	May 29, 2002 (106)
6	YUSUKE	ss4981082	Aug 28, 2002 (108)
7	WI_SSAHASNP	ss12350439	Jul 11, 2003 (116)
8	BCM_SSAHASNP	ss14255564	Dec 05, 2003 (119)
9	CGAP-GAI	ss16228391	Feb 27, 2004 (120)
10	SSAHASNP	ss21308947	Apr 05, 2004 (121)
11	ABI	ss43876127	Mar 13, 2006 (126)
12	ILLUMINA	ss65740263	Oct 16, 2006 (127)
13	AFFY	ss66514710	Dec 02, 2006 (127)
14	ILLUMINA	ss74862915	Dec 07, 2007 (129)
15	AFFY	ss76337393	Dec 08, 2007 (130)
16	HGSV	ss78266683	Dec 07, 2007 (129)
17	KRIBB_YJKIM	ss81452817	Dec 15, 2007 (130)
18	HGSV	ss82527882	Dec 15, 2007 (130)
19	HGSV	ss83131626	Dec 15, 2007 (130)
20	CORNELL	ss86240700	Mar 23, 2008 (129)
21	BCMHGSC_JDW	ss90365258	Mar 24, 2008 (129)
22	HUMANGENOME_JCVI	ss96633778	Feb 04, 2009 (130)
23	BGI	ss103290613	Dec 01, 2009 (131)
24	1000GENOMES	ss109298039	Jan 23, 2009 (130)
25	1000GENOMES	ss115025642	Jan 25, 2009 (130)
26	ILLUMINA-UK	ss118235881	Feb 14, 2009 (130)
27	ENSEMBL	ss136658878	Dec 01, 2009 (131)
28	ENSEMBL	ss136760171	Dec 01, 2009 (131)
29	GMI	ss157247974	Dec 01, 2009 (131)
30	ILLUMINA	ss159896111	Dec 01, 2009 (131)
31	COMPLETE_GENOMICS	ss168116153	Jul 04, 2010 (132)
32	COMPLETE_GENOMICS	ss169570923	Jul 04, 2010 (132)
33	ILLUMINA	ss170111471	Jul 04, 2010 (132)
34	COMPLETE_GENOMICS	ss171171117	Jul 04, 2010 (132)
35	AFFY	ss173307285	Jul 04, 2010 (132)
36	BUSHMAN	ss201610397	Jul 04, 2010 (132)
37	BCM-HGSC-SUB	ss207687369	Jul 04, 2010 (132)
38	1000GENOMES	ss227214437	Jul 14, 2010 (132)
39	1000GENOMES	ss237004654	Jul 15, 2010 (132)
40	1000GENOMES	ss243348755	Jul 15, 2010 (132)
41	ILLUMINA	ss244269022	Jul 04, 2010 (132)
42	BL	ss255619678	May 09, 2011 (134)
43	GMI	ss282493458	May 04, 2012 (137)
44	GMI	ss287058754	Apr 25, 2013 (138)
45	PJP	ss291944625	May 09, 2011 (134)
46	ILLUMINA	ss479273249	May 04, 2012 (137)
47	ILLUMINA	ss479276167	May 04, 2012 (137)
48	ILLUMINA	ss479650287	Sep 08, 2015 (146)
49	ILLUMINA	ss484437216	May 04, 2012 (137)
50	ILLUMINA	ss535439886	Sep 08, 2015 (146)
51	TISHKOFF	ss564870041	Apr 25, 2013 (138)
52	SSMP	ss660624741	Apr 25, 2013 (138)
53	ILLUMINA	ss782665079	Sep 08, 2015 (146)
54	ILLUMINA	ss831915659	Sep 08, 2015 (146)
55	EVA-GONL	ss992431584	Aug 21, 2014 (142)
56	JMKIDD_LAB	ss1080588566	Aug 21, 2014 (142)
57	1000GENOMES	ss1355972647	Aug 21, 2014 (142)
58	DDI	ss1427823505	Apr 01, 2015 (144)
59	EVA_GENOME_DK	ss1577894497	Apr 01, 2015 (144)
60	EVA_UK10K_ALSPAC	ss1634302668	Apr 01, 2015 (144)
61	EVA_UK10K_TWINSUK	ss1677296701	Apr 01, 2015 (144)
62	EVA_DECODE	ss1696465933	Apr 01, 2015 (144)
63	EVA_SVP	ss1713535936	Apr 01, 2015 (144)
64	ILLUMINA	ss1752190176	Sep 08, 2015 (146)
65	HAMMER_LAB	ss1808488574	Sep 08, 2015 (146)
66	WEILL_CORNELL_DGM	ss1935856570	Feb 12, 2016 (147)
67	GENOMED	ss1968250833	Jul 19, 2016 (147)
68	JJLAB	ss2028715280	Sep 14, 2016 (149)
69	ILLUMINA	ss2094889847	Dec 20, 2016 (150)
70	ILLUMINA	ss2095065894	Dec 20, 2016 (150)
71	USC_VALOUEV	ss2157129318	Dec 20, 2016 (150)
72	HUMAN_LONGEVITY	ss2211727606	Dec 20, 2016 (150)
73	SYSTEMSBIOZJU	ss2628850261	Nov 08, 2017 (151)
74	ILLUMINA	ss2633311691	Nov 08, 2017 (151)
75	GRF	ss2701636964	Nov 08, 2017 (151)
76	AFFY	ss2985066208	Nov 08, 2017 (151)
77	SWEGEN	ss3014333175	Nov 08, 2017 (151)
78	BIOINF_KMB_FNS_UNIBA	ss3028180541	Nov 08, 2017 (151)
79	CSHL	ss3351408117	Nov 08, 2017 (151)
80	ILLUMINA	ss3627510740	Oct 12, 2018 (152)
81	ILLUMINA	ss3633119115	Oct 12, 2018 (152)
82	ILLUMINA	ss3633825082	Oct 12, 2018 (152)
83	ILLUMINA	ss3634639745	Oct 12, 2018 (152)
84	ILLUMINA	ss3635513427	Oct 12, 2018 (152)
85	ILLUMINA	ss3636329948	Oct 12, 2018 (152)
86	ILLUMINA	ss3637264852	Oct 12, 2018 (152)
87	ILLUMINA	ss3638122089	Oct 12, 2018 (152)
88	ILLUMINA	ss3640347064	Oct 12, 2018 (152)
89	ILLUMINA	ss3641070918	Oct 12, 2018 (152)
90	ILLUMINA	ss3641366405	Oct 12, 2018 (152)
91	ILLUMINA	ss3643103425	Oct 12, 2018 (152)
92	OMUKHERJEE_ADBS	ss3646491210	Oct 12, 2018 (152)
93	URBANLAB	ss3650498401	Oct 12, 2018 (152)
94	ILLUMINA	ss3652107180	Oct 12, 2018 (152)
95	EGCUT_WGS	ss3681406761	Jul 13, 2019 (153)
96	EVA_DECODE	ss3699135980	Jul 13, 2019 (153)
97	ACPOP	ss3741464944	Jul 13, 2019 (153)
98	ILLUMINA	ss3744940174	Jul 13, 2019 (153)
99	EVA	ss3753862290	Jul 13, 2019 (153)
100	ILLUMINA	ss3772438484	Jul 13, 2019 (153)
101	PACBIO	ss3788021991	Jul 13, 2019 (153)
102	PACBIO	ss3793008452	Jul 13, 2019 (153)
103	PACBIO	ss3797893344	Jul 13, 2019 (153)
104	KHV_HUMAN_GENOMES	ss3819155629	Jul 13, 2019 (153)
105	EVA	ss3825877840	Apr 27, 2020 (154)
106	EVA	ss3834546445	Apr 27, 2020 (154)
107	EVA	ss3840880775	Apr 27, 2020 (154)
108	EVA	ss3846371791	Apr 27, 2020 (154)
109	SGDP_PRJ	ss3884285678	Apr 27, 2020 (154)
110	KRGDB	ss3933642771	Apr 27, 2020 (154)
111	FSA-LAB	ss3984092123	Apr 27, 2021 (155)
112	EVA	ss3985754095	Apr 27, 2021 (155)
113	EVA	ss3986070478	Apr 27, 2021 (155)
114	EVA	ss4017733415	Apr 27, 2021 (155)
115	GNOMAD	ss4299510030	Apr 27, 2021 (155)
116	TOPMED	ss5012816824	Apr 27, 2021 (155)
117	TOMMO_GENOMICS	ss5219190738	Apr 27, 2021 (155)
118	1000G_HIGH_COVERAGE	ss5300685501	Oct 16, 2022 (156)
119	EVA	ss5315834720	Oct 16, 2022 (156)
120	EVA	ss5423268615	Oct 16, 2022 (156)
121	HUGCELL_USP	ss5494111153	Oct 16, 2022 (156)
122	1000G_HIGH_COVERAGE	ss5603172745	Oct 16, 2022 (156)
123	SANFORD_IMAGENETICS	ss5658767557	Oct 16, 2022 (156)
124	TOMMO_GENOMICS	ss5773898582	Oct 16, 2022 (156)
125	EVA	ss5799956523	Oct 16, 2022 (156)
126	YY_MCH	ss5815893889	Oct 16, 2022 (156)
127	EVA	ss5846312612	Oct 16, 2022 (156)
128	EVA	ss5851549133	Oct 16, 2022 (156)
129	EVA	ss5898844840	Oct 16, 2022 (156)
130	EVA	ss5950181860	Oct 16, 2022 (156)
131	1000Genomes	NC_000016.9 - 30914626	Oct 12, 2018 (152)
132	1000Genomes_30x	NC_000016.10 - 30903305	Oct 16, 2022 (156)
133	The Avon Longitudinal Study of Parents and Children	NC_000016.9 - 30914626	Oct 12, 2018 (152)
134	Genetic variation in the Estonian population	NC_000016.9 - 30914626	Oct 12, 2018 (152)
135	The Danish reference pan genome	NC_000016.9 - 30914626	Apr 27, 2020 (154)
136	gnomAD - Genomes	NC_000016.10 - 30903305	Apr 27, 2021 (155)
137	Genome of the Netherlands Release 5	NC_000016.9 - 30914626	Apr 27, 2020 (154)
138	HapMap	NC_000016.10 - 30903305	Apr 27, 2020 (154)
139	KOREAN population from KRGDB	NC_000016.9 - 30914626	Apr 27, 2020 (154)
140	Northern Sweden	NC_000016.9 - 30914626	Jul 13, 2019 (153)
141	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000016.9 - 30914626	Apr 27, 2021 (155)
142	Qatari	NC_000016.9 - 30914626	Apr 27, 2020 (154)
143	SGDP_PRJ	NC_000016.9 - 30914626	Apr 27, 2020 (154)
144	Siberian	NC_000016.9 - 30914626	Apr 27, 2020 (154)
145	8.3KJPN	NC_000016.9 - 30914626	Apr 27, 2021 (155)
146	14KJPN	NC_000016.10 - 30903305	Oct 16, 2022 (156)
147	TopMed	NC_000016.10 - 30903305	Apr 27, 2021 (155)
148	UK 10K study - Twins	NC_000016.9 - 30914626	Oct 12, 2018 (152)
149	A Vietnamese Genetic Variation Database	NC_000016.9 - 30914626	Jul 13, 2019 (153)
150	ALFA	NC_000016.10 - 30903305	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)
rs3169529	Jul 03, 2002 (106)
rs3794708	Oct 09, 2002 (108)
rs56527805	May 24, 2008 (130)
rs58202894	May 24, 2008 (130)
rs59115019	Feb 26, 2009 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
40820165, ss3933642771	NC_000016.9:30914625:T:A	NC_000016.10:30903304:T:A	(self)
ss78266683, ss82527882, ss83131626, ss90365258, ss109298039, ss115025642, ss118235881, ss168116153, ss169570923, ss171171117, ss201610397, ss207687369, ss255619678, ss282493458, ss287058754, ss291944625, ss479273249, ss1696465933, ss1713535936, ss2094889847, ss3643103425	NC_000016.8:30822126:T:C	NC_000016.10:30903304:T:C	(self)
69127462, 38367878, 27145009, 4107740, 17114060, 40820165, 14749809, 980022, 17898492, 36302658, 9645672, 77160045, 38367878, 8518355, ss227214437, ss237004654, ss243348755, ss479276167, ss479650287, ss484437216, ss535439886, ss564870041, ss660624741, ss782665079, ss831915659, ss992431584, ss1080588566, ss1355972647, ss1427823505, ss1577894497, ss1634302668, ss1677296701, ss1752190176, ss1808488574, ss1935856570, ss1968250833, ss2028715280, ss2095065894, ss2157129318, ss2628850261, ss2633311691, ss2701636964, ss2985066208, ss3014333175, ss3351408117, ss3627510740, ss3633119115, ss3633825082, ss3634639745, ss3635513427, ss3636329948, ss3637264852, ss3638122089, ss3640347064, ss3641070918, ss3641366405, ss3646491210, ss3652107180, ss3681406761, ss3741464944, ss3744940174, ss3753862290, ss3772438484, ss3788021991, ss3793008452, ss3797893344, ss3825877840, ss3834546445, ss3840880775, ss3884285678, ss3933642771, ss3984092123, ss3985754095, ss3986070478, ss4017733415, ss5219190738, ss5315834720, ss5423268615, ss5658767557, ss5799956523, ss5846312612, ss5950181860	NC_000016.9:30914625:T:C	NC_000016.10:30903304:T:C	(self)
90698680, 487280959, 1373828, 107735686, 228362485, 5554908472, ss2211727606, ss3028180541, ss3650498401, ss3699135980, ss3819155629, ss3846371791, ss4299510030, ss5012816824, ss5300685501, ss5494111153, ss5603172745, ss5773898582, ss5815893889, ss5851549133, ss5898844840	NC_000016.10:30903304:T:C	NC_000016.10:30903304:T:C	(self)
ss1517303, ss2423455, ss4321653, ss4392597, ss4409752, ss4981082, ss16228391, ss43876127, ss65740263, ss66514710, ss74862915, ss76337393, ss81452817, ss86240700, ss96633778, ss103290613, ss136658878, ss136760171, ss157247974, ss159896111, ss170111471, ss173307285, ss244269022	NT_010393.16:30854625:T:C	NC_000016.10:30903304:T:C	(self)
ss12350439, ss14255564, ss21308947	NT_024812.10:2314292:T:C	NC_000016.10:30903304:T:C	(self)
40820165, ss3933642771	NC_000016.9:30914625:T:G	NC_000016.10:30903304:T:G	(self)

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

2 citations for rs1046276

PMID	Title	Author	Year	Journal
25025664	Common genetic variation in the human CTF1 locus, encoding cardiotrophin-1, determines insulin sensitivity.	Lutz SZ et al.	2014	PloS one
33096746	Genetic Landscape of Common Epilepsies: Advancing towards Precision in Treatment.	Thakran S et al.	2020	International journal of molecular sciences

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

rs1046276