Name: rs2927
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.

rs2927

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr6:16757881 (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=0.302437 (80052/264690, TOPMED)
T=0.387152 (61362/158496, ALFA)
T=0.328415 (45917/139814, GnomAD) (+ 18 more)
T=0.08051 (2275/28258, 14KJPN)
T=0.08037 (1347/16760, 8.3KJPN)
T=0.2320 (1486/6404, 1000G_30x)
T=0.2336 (1170/5008, 1000G)
T=0.4511 (2021/4480, Estonian)
T=0.4107 (1583/3854, ALSPAC)
T=0.4239 (1572/3708, TWINSUK)
T=0.0631 (185/2930, KOREAN)
T=0.0677 (124/1832, Korea1K)
T=0.435 (434/998, GoNL)
T=0.445 (267/600, NorthernSweden)
T=0.144 (75/522, SGDP_PRJ)
T=0.242 (80/330, HapMap)
T=0.250 (54/216, Qatari)
T=0.095 (20/210, Vietnamese)
C=0.43 (24/56, Ancient Sardinia)
T=0.29 (15/52, Siberian)
T=0.38 (15/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: ATXN1 : 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	158496	T=0.387152	C=0.612848
European	Sub	138790	T=0.405144	C=0.594856
African	Sub	5534	T=0.1803	C=0.8197
African Others	Sub	208	T=0.135	C=0.865
African American	Sub	5326	T=0.1821	C=0.8179
Asian	Sub	666	T=0.081	C=0.919
East Asian	Sub	534	T=0.079	C=0.921
Other Asian	Sub	132	T=0.091	C=0.909
Latin American 1	Sub	738	T=0.286	C=0.714
Latin American 2	Sub	6278	T=0.2638	C=0.7362
South Asian	Sub	184	T=0.321	C=0.679
Other	Sub	6306	T=0.3416	C=0.6584

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=0.302437	C=0.697563
Allele Frequency Aggregator	Total	Global	158496	T=0.387152	C=0.612848
Allele Frequency Aggregator	European	Sub	138790	T=0.405144	C=0.594856
Allele Frequency Aggregator	Other	Sub	6306	T=0.3416	C=0.6584
Allele Frequency Aggregator	Latin American 2	Sub	6278	T=0.2638	C=0.7362
Allele Frequency Aggregator	African	Sub	5534	T=0.1803	C=0.8197
Allele Frequency Aggregator	Latin American 1	Sub	738	T=0.286	C=0.714
Allele Frequency Aggregator	Asian	Sub	666	T=0.081	C=0.919
Allele Frequency Aggregator	South Asian	Sub	184	T=0.321	C=0.679
gnomAD - Genomes	Global	Study-wide	139814	T=0.328415	C=0.671585
gnomAD - Genomes	European	Sub	75736	T=0.42597	C=0.57403
gnomAD - Genomes	African	Sub	41856	T=0.17560	C=0.82440
gnomAD - Genomes	American	Sub	13618	T=0.31620	C=0.68380
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	T=0.3318	C=0.6682
gnomAD - Genomes	East Asian	Sub	3130	T=0.0645	C=0.9355
gnomAD - Genomes	Other	Sub	2150	T=0.3233	C=0.6767
14KJPN	JAPANESE	Study-wide	28258	T=0.08051	C=0.91949
8.3KJPN	JAPANESE	Study-wide	16760	T=0.08037	C=0.91963
1000Genomes_30x	Global	Study-wide	6404	T=0.2320	C=0.7680
1000Genomes_30x	African	Sub	1786	T=0.1495	C=0.8505
1000Genomes_30x	Europe	Sub	1266	T=0.4013	C=0.5987
1000Genomes_30x	South Asian	Sub	1202	T=0.2887	C=0.7113
1000Genomes_30x	East Asian	Sub	1170	T=0.0803	C=0.9197
1000Genomes_30x	American	Sub	980	T=0.276	C=0.724
1000Genomes	Global	Study-wide	5008	T=0.2336	C=0.7664
1000Genomes	African	Sub	1322	T=0.1520	C=0.8480
1000Genomes	East Asian	Sub	1008	T=0.0804	C=0.9196
1000Genomes	Europe	Sub	1006	T=0.4115	C=0.5885
1000Genomes	South Asian	Sub	978	T=0.288	C=0.712
1000Genomes	American	Sub	694	T=0.277	C=0.723
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.4511	C=0.5489
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.4107	C=0.5893
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.4239	C=0.5761
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.0631	A=0.0000, C=0.9369, G=0.0000
Korean Genome Project	KOREAN	Study-wide	1832	T=0.0677	C=0.9323
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.435	C=0.565
Northern Sweden	ACPOP	Study-wide	600	T=0.445	C=0.555
SGDP_PRJ	Global	Study-wide	522	T=0.144	C=0.856
HapMap	Global	Study-wide	330	T=0.242	C=0.758
HapMap	African	Sub	120	T=0.192	C=0.808
HapMap	American	Sub	120	T=0.392	C=0.608
HapMap	Asian	Sub	90	T=0.11	C=0.89
Qatari	Global	Study-wide	216	T=0.250	C=0.750
A Vietnamese Genetic Variation Database	Global	Study-wide	210	T=0.095	C=0.905
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	56	T=0.57	C=0.43
Siberian	Global	Study-wide	52	T=0.29	C=0.71
The Danish reference pan genome	Danish	Study-wide	40	T=0.38	C=0.62

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 6	NC_000006.12:g.16757881T>A
GRCh38.p14 chr 6	NC_000006.12:g.16757881T>C
GRCh38.p14 chr 6	NC_000006.12:g.16757881T>G
GRCh37.p13 chr 6	NC_000006.11:g.16758112T>A
GRCh37.p13 chr 6	NC_000006.11:g.16758112T>C
GRCh37.p13 chr 6	NC_000006.11:g.16758112T>G
ATXN1 RefSeqGene (LRG_863)	NG_011571.1:g.8610A>T
ATXN1 RefSeqGene (LRG_863)	NG_011571.1:g.8610A>G
ATXN1 RefSeqGene (LRG_863)	NG_011571.1:g.8610A>C

Gene: ATXN1, ataxin 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ATXN1 transcript variant 1	NM_000332.4:c.-779+3417A>T	N/A	Intron Variant
ATXN1 transcript variant 2	NM_001128164.2:c.-730+341… NM_001128164.2:c.-730+3417A>T	N/A	Intron Variant
ATXN1 transcript variant 1	NM_001357857.2:c.-808+341… NM_001357857.2:c.-808+3417A>T	N/A	Intron Variant
ATXN1 transcript variant 3	NR_152111.3:n.	N/A	Intron Variant
ATXN1 transcript variant 4	NR_152112.3:n.	N/A	Intron Variant
ATXN1 transcript variant 5	NR_152113.3:n.	N/A	Intron Variant
ATXN1 transcript variant 6	NR_152114.3:n.	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	T=	A	C	G
GRCh38.p14 chr 6	NC_000006.12:g.16757881=	NC_000006.12:g.16757881T>A	NC_000006.12:g.16757881T>C	NC_000006.12:g.16757881T>G
GRCh37.p13 chr 6	NC_000006.11:g.16758112=	NC_000006.11:g.16758112T>A	NC_000006.11:g.16758112T>C	NC_000006.11:g.16758112T>G
ATXN1 RefSeqGene (LRG_863)	NG_011571.1:g.8610=	NG_011571.1:g.8610A>T	NG_011571.1:g.8610A>G	NG_011571.1:g.8610A>C
ATXN1 transcript variant 1	NM_000332.3:c.-779+3417=	NM_000332.3:c.-779+3417A>T	NM_000332.3:c.-779+3417A>G	NM_000332.3:c.-779+3417A>C
ATXN1 transcript variant 1	NM_000332.4:c.-779+3417=	NM_000332.4:c.-779+3417A>T	NM_000332.4:c.-779+3417A>G	NM_000332.4:c.-779+3417A>C
ATXN1 transcript variant 2	NM_001128164.1:c.-730+3417=	NM_001128164.1:c.-730+3417A>T	NM_001128164.1:c.-730+3417A>G	NM_001128164.1:c.-730+3417A>C
ATXN1 transcript variant 2	NM_001128164.2:c.-730+3417=	NM_001128164.2:c.-730+3417A>T	NM_001128164.2:c.-730+3417A>G	NM_001128164.2:c.-730+3417A>C
ATXN1 transcript variant 1	NM_001357857.2:c.-808+3417=	NM_001357857.2:c.-808+3417A>T	NM_001357857.2:c.-808+3417A>G	NM_001357857.2:c.-808+3417A>C
ATXN1 transcript variant X1	XM_005249287.1:c.-615+3417=	XM_005249287.1:c.-615+3417A>T	XM_005249287.1:c.-615+3417A>G	XM_005249287.1:c.-615+3417A>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#.

117 SubSNP, 21 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	WIAF	ss2958	Sep 19, 2000 (36)
2	SC_JCM	ss808856	Aug 11, 2000 (83)
3	KWOK	ss992444	Oct 04, 2000 (86)
4	KWOK	ss1866255	Oct 18, 2000 (87)
5	KWOK	ss1866711	Oct 18, 2000 (87)
6	KWOK	ss1942618	Oct 18, 2000 (87)
7	YUSUKE	ss4935959	Aug 28, 2002 (108)
8	BGI	ss5591117	Dec 12, 2002 (110)
9	BCM_SSAHASNP	ss10269241	Jul 11, 2003 (116)
10	WI_SSAHASNP	ss14319818	Dec 05, 2003 (119)
11	CSHL-HAPMAP	ss17891956	Feb 27, 2004 (120)
12	SSAHASNP	ss22367517	Apr 05, 2004 (121)
13	PERLEGEN	ss24378954	Sep 20, 2004 (123)
14	ABI	ss44699919	Mar 15, 2006 (126)
15	PERLEGEN	ss68966700	May 18, 2007 (127)
16	AFFY	ss74823043	Aug 16, 2007 (128)
17	HGSV	ss84280530	Dec 15, 2007 (130)
18	BCMHGSC_JDW	ss93404152	Mar 24, 2008 (129)
19	HUMANGENOME_JCVI	ss98369446	Feb 05, 2009 (130)
20	BGI	ss104281641	Dec 01, 2009 (131)
21	1000GENOMES	ss109786977	Jan 24, 2009 (130)
22	1000GENOMES	ss113959753	Jan 25, 2009 (130)
23	ILLUMINA-UK	ss116326733	Feb 14, 2009 (130)
24	ENSEMBL	ss143378361	Dec 01, 2009 (131)
25	ENSEMBL	ss143760439	Dec 01, 2009 (131)
26	GMI	ss156582012	Dec 01, 2009 (131)
27	ILLUMINA	ss160599612	Dec 01, 2009 (131)
28	COMPLETE_GENOMICS	ss162071711	Jul 04, 2010 (132)
29	COMPLETE_GENOMICS	ss163195369	Jul 04, 2010 (132)
30	COMPLETE_GENOMICS	ss166215514	Jul 04, 2010 (132)
31	BUSHMAN	ss201470147	Jul 04, 2010 (132)
32	BCM-HGSC-SUB	ss207538906	Jul 04, 2010 (132)
33	1000GENOMES	ss222232761	Jul 14, 2010 (132)
34	1000GENOMES	ss233340406	Jul 14, 2010 (132)
35	1000GENOMES	ss240421979	Jul 15, 2010 (132)
36	BL	ss254071462	May 09, 2011 (134)
37	GMI	ss278668661	May 04, 2012 (137)
38	GMI	ss285347111	Apr 25, 2013 (138)
39	PJP	ss293797315	May 09, 2011 (134)
40	ILLUMINA	ss480719457	May 04, 2012 (137)
41	ILLUMINA	ss480735150	May 04, 2012 (137)
42	ILLUMINA	ss481612968	Sep 08, 2015 (146)
43	ILLUMINA	ss485154451	May 04, 2012 (137)
44	ILLUMINA	ss537149635	Sep 08, 2015 (146)
45	TISHKOFF	ss559033787	Apr 25, 2013 (138)
46	SSMP	ss652942227	Apr 25, 2013 (138)
47	ILLUMINA	ss778884760	Sep 08, 2015 (146)
48	ILLUMINA	ss783023499	Sep 08, 2015 (146)
49	ILLUMINA	ss783983375	Sep 08, 2015 (146)
50	ILLUMINA	ss832281043	Sep 08, 2015 (146)
51	ILLUMINA	ss834345803	Sep 08, 2015 (146)
52	EVA-GONL	ss982627866	Aug 21, 2014 (142)
53	JMKIDD_LAB	ss1073413561	Aug 21, 2014 (142)
54	1000GENOMES	ss1319132747	Aug 21, 2014 (142)
55	DDI	ss1430650744	Apr 01, 2015 (144)
56	EVA_GENOME_DK	ss1581549489	Apr 01, 2015 (144)
57	EVA_DECODE	ss1592177897	Apr 01, 2015 (144)
58	EVA_UK10K_ALSPAC	ss1615039137	Apr 01, 2015 (144)
59	EVA_UK10K_TWINSUK	ss1658033170	Apr 01, 2015 (144)
60	ILLUMINA	ss1752616112	Sep 08, 2015 (146)
61	HAMMER_LAB	ss1804299951	Sep 08, 2015 (146)
62	WEILL_CORNELL_DGM	ss1925883820	Feb 12, 2016 (147)
63	GENOMED	ss1970321299	Jul 19, 2016 (147)
64	JJLAB	ss2023560679	Sep 14, 2016 (149)
65	USC_VALOUEV	ss2151724192	Dec 20, 2016 (150)
66	HUMAN_LONGEVITY	ss2282114213	Dec 20, 2016 (150)
67	SYSTEMSBIOZJU	ss2626268303	Nov 08, 2017 (151)
68	ILLUMINA	ss2634405971	Nov 08, 2017 (151)
69	GRF	ss2707312286	Nov 08, 2017 (151)
70	ILLUMINA	ss2711061086	Nov 08, 2017 (151)
71	GNOMAD	ss2836238869	Nov 08, 2017 (151)
72	SWEGEN	ss2998582083	Nov 08, 2017 (151)
73	BIOINF_KMB_FNS_UNIBA	ss3025565727	Nov 08, 2017 (151)
74	CSHL	ss3346855667	Nov 08, 2017 (151)
75	ILLUMINA	ss3629454075	Oct 12, 2018 (152)
76	ILLUMINA	ss3632325920	Oct 12, 2018 (152)
77	ILLUMINA	ss3633407861	Oct 12, 2018 (152)
78	ILLUMINA	ss3634129917	Oct 12, 2018 (152)
79	ILLUMINA	ss3635046345	Oct 12, 2018 (152)
80	ILLUMINA	ss3635811211	Oct 12, 2018 (152)
81	ILLUMINA	ss3636761495	Oct 12, 2018 (152)
82	ILLUMINA	ss3637563929	Oct 12, 2018 (152)
83	ILLUMINA	ss3640753641	Oct 12, 2018 (152)
84	URBANLAB	ss3648278212	Oct 12, 2018 (152)
85	EGCUT_WGS	ss3666512043	Jul 13, 2019 (153)
86	EVA_DECODE	ss3716666995	Jul 13, 2019 (153)
87	ACPOP	ss3733241043	Jul 13, 2019 (153)
88	ILLUMINA	ss3745346429	Jul 13, 2019 (153)
89	EVA	ss3764664038	Jul 13, 2019 (153)
90	ILLUMINA	ss3772840228	Jul 13, 2019 (153)
91	PACBIO	ss3785384739	Jul 13, 2019 (153)
92	PACBIO	ss3790748488	Jul 13, 2019 (153)
93	PACBIO	ss3795625801	Jul 13, 2019 (153)
94	KHV_HUMAN_GENOMES	ss3807826111	Jul 13, 2019 (153)
95	EVA	ss3829754872	Apr 26, 2020 (154)
96	EVA	ss3838353136	Apr 26, 2020 (154)
97	EVA	ss3843793608	Apr 26, 2020 (154)
98	SGDP_PRJ	ss3864002570	Apr 26, 2020 (154)
99	KRGDB	ss3910754443	Apr 26, 2020 (154)
100	KOGIC	ss3958581671	Apr 26, 2020 (154)
101	EVA	ss3985202878	Apr 26, 2021 (155)
102	EVA	ss4017257507	Apr 26, 2021 (155)
103	TOPMED	ss4694989878	Apr 26, 2021 (155)
104	TOMMO_GENOMICS	ss5176341338	Apr 26, 2021 (155)
105	1000G_HIGH_COVERAGE	ss5267544885	Oct 13, 2022 (156)
106	EVA	ss5315125701	Oct 13, 2022 (156)
107	EVA	ss5364067433	Oct 13, 2022 (156)
108	HUGCELL_USP	ss5465324090	Oct 13, 2022 (156)
109	1000G_HIGH_COVERAGE	ss5553034401	Oct 13, 2022 (156)
110	SANFORD_IMAGENETICS	ss5639850391	Oct 13, 2022 (156)
111	TOMMO_GENOMICS	ss5714058659	Oct 13, 2022 (156)
112	EVA	ss5799677573	Oct 13, 2022 (156)
113	YY_MCH	ss5807186737	Oct 13, 2022 (156)
114	EVA	ss5841850721	Oct 13, 2022 (156)
115	EVA	ss5855222155	Oct 13, 2022 (156)
116	EVA	ss5882820380	Oct 13, 2022 (156)
117	EVA	ss5968351832	Oct 13, 2022 (156)
118	1000Genomes	NC_000006.11 - 16758112	Oct 12, 2018 (152)
119	1000Genomes_30x	NC_000006.12 - 16757881	Oct 13, 2022 (156)
120	The Avon Longitudinal Study of Parents and Children	NC_000006.11 - 16758112	Oct 12, 2018 (152)
121	Genetic variation in the Estonian population	NC_000006.11 - 16758112	Oct 12, 2018 (152)
122	The Danish reference pan genome	NC_000006.11 - 16758112	Apr 26, 2020 (154)
123	gnomAD - Genomes	NC_000006.12 - 16757881	Apr 26, 2021 (155)
124	Genome of the Netherlands Release 5	NC_000006.11 - 16758112	Apr 26, 2020 (154)
125	HapMap	NC_000006.12 - 16757881	Apr 26, 2020 (154)
126	KOREAN population from KRGDB	NC_000006.11 - 16758112	Apr 26, 2020 (154)
127	Korean Genome Project	NC_000006.12 - 16757881	Apr 26, 2020 (154)
128	Northern Sweden	NC_000006.11 - 16758112	Jul 13, 2019 (153)
129	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000006.11 - 16758112	Apr 26, 2021 (155)
130	Qatari	NC_000006.11 - 16758112	Apr 26, 2020 (154)
131	SGDP_PRJ	NC_000006.11 - 16758112	Apr 26, 2020 (154)
132	Siberian	NC_000006.11 - 16758112	Apr 26, 2020 (154)
133	8.3KJPN	NC_000006.11 - 16758112	Apr 26, 2021 (155)
134	14KJPN	NC_000006.12 - 16757881	Oct 13, 2022 (156)
135	TopMed	NC_000006.12 - 16757881	Apr 26, 2021 (155)
136	UK 10K study - Twins	NC_000006.11 - 16758112	Oct 12, 2018 (152)
137	A Vietnamese Genetic Variation Database	NC_000006.11 - 16758112	Jul 13, 2019 (153)
138	ALFA	NC_000006.12 - 16757881	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)
rs3749933	Oct 08, 2002 (108)
rs17616278	Oct 08, 2004 (123)
rs52826066	Sep 21, 2007 (128)
rs59545170	May 25, 2008 (130)
rs386577334	Aug 21, 2014 (142)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
17931837, ss3910754443	NC_000006.11:16758111:T:A	NC_000006.12:16757880:T:A	(self)
ss84280530	NC_000006.9:16866090:T:C	NC_000006.12:16757880:T:C	(self)
ss93404152, ss109786977, ss113959753, ss116326733, ss162071711, ss163195369, ss166215514, ss201470147, ss207538906, ss254071462, ss278668661, ss285347111, ss293797315, ss480719457, ss1592177897	NC_000006.10:16866090:T:C	NC_000006.12:16757880:T:C	(self)
30882279, 17201369, 12250291, 7714428, 7631680, 17931837, 6525908, 428805, 7925750, 16019550, 4240546, 34310645, 17201369, 3808460, ss222232761, ss233340406, ss240421979, ss480735150, ss481612968, ss485154451, ss537149635, ss559033787, ss652942227, ss778884760, ss783023499, ss783983375, ss832281043, ss834345803, ss982627866, ss1073413561, ss1319132747, ss1430650744, ss1581549489, ss1615039137, ss1658033170, ss1752616112, ss1804299951, ss1925883820, ss1970321299, ss2023560679, ss2151724192, ss2626268303, ss2634405971, ss2707312286, ss2711061086, ss2836238869, ss2998582083, ss3346855667, ss3629454075, ss3632325920, ss3633407861, ss3634129917, ss3635046345, ss3635811211, ss3636761495, ss3637563929, ss3640753641, ss3666512043, ss3733241043, ss3745346429, ss3764664038, ss3772840228, ss3785384739, ss3790748488, ss3795625801, ss3829754872, ss3838353136, ss3864002570, ss3910754443, ss3985202878, ss4017257507, ss5176341338, ss5315125701, ss5364067433, ss5639850391, ss5799677573, ss5841850721, ss5968351832	NC_000006.11:16758111:T:C	NC_000006.12:16757880:T:C	(self)
40560336, 218237195, 3070909, 14959672, 47895763, 532367436, 3312199257, ss2282114213, ss3025565727, ss3648278212, ss3716666995, ss3807826111, ss3843793608, ss3958581671, ss4694989878, ss5267544885, ss5465324090, ss5553034401, ss5714058659, ss5807186737, ss5855222155, ss5882820380	NC_000006.12:16757880:T:C	NC_000006.12:16757880:T:C	(self)
ss10269241, ss14319818, ss17891956, ss22367517	NT_007592.13:7616362:T:C	NC_000006.12:16757880:T:C	(self)
ss2958, ss808856, ss992444, ss1866255, ss1866711, ss1942618, ss4935959, ss5591117, ss24378954, ss44699919, ss68966700, ss74823043, ss98369446, ss104281641, ss143378361, ss143760439, ss156582012, ss160599612	NT_007592.15:16698111:T:C	NC_000006.12:16757880:T:C	(self)
17931837, ss3910754443	NC_000006.11:16758111:T:G	NC_000006.12:16757880:T:G	(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 rs2927

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.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs2927