Name: rs2239815
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.

rs2239815

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr22:28796682 (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: C=0.442283 (117068/264690, TOPMED)
C=0.319123 (52885/165720, ALFA)
T=0.46479 (36575/78692, PAGE_STUDY) (+ 20 more)
T=0.31846 (8999/28258, 14KJPN)
T=0.31653 (5305/16760, 8.3KJPN)
T=0.4611 (2953/6404, 1000G_30x)
T=0.4565 (2286/5008, 1000G)
C=0.3690 (1653/4480, Estonian)
C=0.2963 (1142/3854, ALSPAC)
C=0.3058 (1134/3708, TWINSUK)
T=0.4112 (778/1892, HapMap)
T=0.3745 (686/1832, Korea1K)
C=0.314 (313/998, GoNL)
T=0.397 (301/758, PRJEB37584)
C=0.284 (178/626, Chileans)
C=0.423 (254/600, NorthernSweden)
T=0.282 (122/432, SGDP_PRJ)
C=0.449 (97/216, Qatari)
T=0.255 (55/216, Vietnamese)
C=0.30 (14/46, Ancient Sardinia)
T=0.23 (10/44, Siberian)
C=0.30 (12/40, GENOME_DK)
T=0.4 (3/8, KOREAN)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: XBP1 : Intron Variant
Publications: 5 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	165720	T=0.680877	C=0.319123, G=0.000000
European	Sub	143208	T=0.699137	C=0.300863, G=0.000000
African	Sub	5714	T=0.3302	C=0.6698, G=0.0000
African Others	Sub	172	T=0.291	C=0.709, G=0.000
African American	Sub	5542	T=0.3315	C=0.6685, G=0.0000
Asian	Sub	652	T=0.347	C=0.653, G=0.000
East Asian	Sub	514	T=0.346	C=0.654, G=0.000
Other Asian	Sub	138	T=0.348	C=0.652, G=0.000
Latin American 1	Sub	818	T=0.595	C=0.405, G=0.000
Latin American 2	Sub	8158	T=0.6851	C=0.3149, G=0.0000
South Asian	Sub	140	T=0.621	C=0.379, G=0.000
Other	Sub	7030	T=0.6312	C=0.3688, G=0.0000

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=0.557717	C=0.442283
Allele Frequency Aggregator	Total	Global	165720	T=0.680877	C=0.319123, G=0.000000
Allele Frequency Aggregator	European	Sub	143208	T=0.699137	C=0.300863, G=0.000000
Allele Frequency Aggregator	Latin American 2	Sub	8158	T=0.6851	C=0.3149, G=0.0000
Allele Frequency Aggregator	Other	Sub	7030	T=0.6312	C=0.3688, G=0.0000
Allele Frequency Aggregator	African	Sub	5714	T=0.3302	C=0.6698, G=0.0000
Allele Frequency Aggregator	Latin American 1	Sub	818	T=0.595	C=0.405, G=0.000
Allele Frequency Aggregator	Asian	Sub	652	T=0.347	C=0.653, G=0.000
Allele Frequency Aggregator	South Asian	Sub	140	T=0.621	C=0.379, G=0.000
The PAGE Study	Global	Study-wide	78692	T=0.46479	C=0.53521
The PAGE Study	AfricanAmerican	Sub	32514	T=0.32349	C=0.67651
The PAGE Study	Mexican	Sub	10810	T=0.65772	C=0.34228
The PAGE Study	Asian	Sub	8314	T=0.3208	C=0.6792
The PAGE Study	PuertoRican	Sub	7916	T=0.6300	C=0.3700
The PAGE Study	NativeHawaiian	Sub	4534	T=0.5371	C=0.4629
The PAGE Study	Cuban	Sub	4230	T=0.6388	C=0.3612
The PAGE Study	Dominican	Sub	3828	T=0.5102	C=0.4898
The PAGE Study	CentralAmerican	Sub	2450	T=0.6690	C=0.3310
The PAGE Study	SouthAmerican	Sub	1982	T=0.6715	C=0.3285
The PAGE Study	NativeAmerican	Sub	1258	T=0.6359	C=0.3641
The PAGE Study	SouthAsian	Sub	856	T=0.506	C=0.494
14KJPN	JAPANESE	Study-wide	28258	T=0.31846	C=0.68154
8.3KJPN	JAPANESE	Study-wide	16760	T=0.31653	C=0.68347
1000Genomes_30x	Global	Study-wide	6404	T=0.4611	C=0.5389
1000Genomes_30x	African	Sub	1786	T=0.2660	C=0.7340
1000Genomes_30x	Europe	Sub	1266	T=0.6991	C=0.3009
1000Genomes_30x	South Asian	Sub	1202	T=0.4384	C=0.5616
1000Genomes_30x	East Asian	Sub	1170	T=0.3564	C=0.6436
1000Genomes_30x	American	Sub	980	T=0.662	C=0.338
1000Genomes	Global	Study-wide	5008	T=0.4565	C=0.5435
1000Genomes	African	Sub	1322	T=0.2670	C=0.7330
1000Genomes	East Asian	Sub	1008	T=0.3472	C=0.6528
1000Genomes	Europe	Sub	1006	T=0.7028	C=0.2972
1000Genomes	South Asian	Sub	978	T=0.434	C=0.566
1000Genomes	American	Sub	694	T=0.651	C=0.349
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.6310	C=0.3690
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.7037	C=0.2963
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.6942	C=0.3058
HapMap	Global	Study-wide	1892	T=0.4112	C=0.5888
HapMap	American	Sub	770	T=0.518	C=0.482
HapMap	African	Sub	692	T=0.236	C=0.764
HapMap	Asian	Sub	254	T=0.374	C=0.626
HapMap	Europe	Sub	176	T=0.688	C=0.312
Korean Genome Project	KOREAN	Study-wide	1832	T=0.3745	C=0.6255
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.686	C=0.314
CNV burdens in cranial meningiomas	Global	Study-wide	758	T=0.397	C=0.603
CNV burdens in cranial meningiomas	CRM	Sub	758	T=0.397	C=0.603
Chileans	Chilean	Study-wide	626	T=0.716	C=0.284
Northern Sweden	ACPOP	Study-wide	600	T=0.577	C=0.423
SGDP_PRJ	Global	Study-wide	432	T=0.282	C=0.718
Qatari	Global	Study-wide	216	T=0.551	C=0.449
A Vietnamese Genetic Variation Database	Global	Study-wide	216	T=0.255	C=0.745
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	46	T=0.70	C=0.30
Siberian	Global	Study-wide	44	T=0.23	C=0.77
The Danish reference pan genome	Danish	Study-wide	40	T=0.70	C=0.30
KOREAN population from KRGDB	KOREAN	Study-wide	8	T=0.4	A=0.0, C=0.6, G=0.0

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 22	NC_000022.11:g.28796682T>A
GRCh38.p14 chr 22	NC_000022.11:g.28796682T>C
GRCh38.p14 chr 22	NC_000022.11:g.28796682T>G
GRCh37.p13 chr 22	NC_000022.10:g.29192670T>A
GRCh37.p13 chr 22	NC_000022.10:g.29192670T>C
GRCh37.p13 chr 22	NC_000022.10:g.29192670T>G
XBP1 RefSeqGene	NG_012266.1:g.8891A>T
XBP1 RefSeqGene	NG_012266.1:g.8891A>G
XBP1 RefSeqGene	NG_012266.1:g.8891A>C

Gene: XBP1, X-box binding protein 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
XBP1 transcript variant 2	NM_001079539.2:c.453+395A… NM_001079539.2:c.453+395A>T	N/A	Intron Variant
XBP1 transcript variant 3	NM_001393999.1:c.303+395A… NM_001393999.1:c.303+395A>T	N/A	Intron Variant
XBP1 transcript variant 4	NM_001394000.1:c.303+395A… NM_001394000.1:c.303+395A>T	N/A	Intron Variant
XBP1 transcript variant 1	NM_005080.4:c.453+395A>T	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 22	NC_000022.11:g.28796682=	NC_000022.11:g.28796682T>A	NC_000022.11:g.28796682T>C	NC_000022.11:g.28796682T>G
GRCh37.p13 chr 22	NC_000022.10:g.29192670=	NC_000022.10:g.29192670T>A	NC_000022.10:g.29192670T>C	NC_000022.10:g.29192670T>G
XBP1 RefSeqGene	NG_012266.1:g.8891=	NG_012266.1:g.8891A>T	NG_012266.1:g.8891A>G	NG_012266.1:g.8891A>C
XBP1 transcript variant 2	NM_001079539.1:c.453+395=	NM_001079539.1:c.453+395A>T	NM_001079539.1:c.453+395A>G	NM_001079539.1:c.453+395A>C
XBP1 transcript variant 2	NM_001079539.2:c.453+395=	NM_001079539.2:c.453+395A>T	NM_001079539.2:c.453+395A>G	NM_001079539.2:c.453+395A>C
XBP1 transcript variant 3	NM_001393999.1:c.303+395=	NM_001393999.1:c.303+395A>T	NM_001393999.1:c.303+395A>G	NM_001393999.1:c.303+395A>C
XBP1 transcript variant 4	NM_001394000.1:c.303+395=	NM_001394000.1:c.303+395A>T	NM_001394000.1:c.303+395A>G	NM_001394000.1:c.303+395A>C
XBP1 transcript variant 1	NM_005080.3:c.453+395=	NM_005080.3:c.453+395A>T	NM_005080.3:c.453+395A>G	NM_005080.3:c.453+395A>C
XBP1 transcript variant 1	NM_005080.4:c.453+395=	NM_005080.4:c.453+395A>T	NM_005080.4:c.453+395A>G	NM_005080.4:c.453+395A>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#.

123 SubSNP, 25 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	YUSUKE	ss3195205	Aug 15, 2001 (98)
2	BGI	ss5588000	Dec 12, 2002 (110)
3	SC_SNP	ss8017179	Apr 21, 2003 (114)
4	SC_SNP	ss13390552	Dec 05, 2003 (119)
5	ABI	ss44325108	Mar 13, 2006 (126)
6	SNP500CANCER	ss48297727	Mar 13, 2006 (126)
7	ILLUMINA	ss75184203	Dec 06, 2007 (129)
8	AFFY	ss76517193	Dec 06, 2007 (129)
9	HUMANGENOME_JCVI	ss96120452	Feb 05, 2009 (130)
10	BGI	ss106223226	Feb 05, 2009 (130)
11	1000GENOMES	ss114123169	Jan 25, 2009 (130)
12	ILLUMINA-UK	ss117385465	Feb 14, 2009 (130)
13	KRIBB_YJKIM	ss119423414	Dec 01, 2009 (131)
14	ENSEMBL	ss143171542	Dec 01, 2009 (131)
15	ILLUMINA	ss160519717	Dec 01, 2009 (131)
16	COMPLETE_GENOMICS	ss167819594	Jul 04, 2010 (132)
17	COMPLETE_GENOMICS	ss169072701	Jul 04, 2010 (132)
18	COMPLETE_GENOMICS	ss171906350	Jul 04, 2010 (132)
19	ILLUMINA	ss173204834	Jul 04, 2010 (132)
20	BUSHMAN	ss204071218	Jul 04, 2010 (132)
21	BCM-HGSC-SUB	ss208821046	Jul 04, 2010 (132)
22	1000GENOMES	ss210975332	Jul 14, 2010 (132)
23	1000GENOMES	ss228652118	Jul 14, 2010 (132)
24	1000GENOMES	ss238047837	Jul 15, 2010 (132)
25	1000GENOMES	ss244171854	Jul 15, 2010 (132)
26	GMI	ss283615743	May 04, 2012 (137)
27	GMI	ss287560212	Apr 25, 2013 (138)
28	PJP	ss292749840	May 09, 2011 (134)
29	ILLUMINA	ss480478914	May 04, 2012 (137)
30	ILLUMINA	ss480493270	May 04, 2012 (137)
31	ILLUMINA	ss481293206	Sep 08, 2015 (146)
32	ILLUMINA	ss485036951	May 04, 2012 (137)
33	ILLUMINA	ss537059901	Sep 08, 2015 (146)
34	TISHKOFF	ss566602694	Apr 25, 2013 (138)
35	SSMP	ss662533811	Apr 25, 2013 (138)
36	ILLUMINA	ss778860359	Aug 21, 2014 (142)
37	ILLUMINA	ss782964715	Aug 21, 2014 (142)
38	ILLUMINA	ss783926606	Aug 21, 2014 (142)
39	ILLUMINA	ss832220976	Apr 01, 2015 (144)
40	ILLUMINA	ss834321135	Aug 21, 2014 (142)
41	EVA-GONL	ss995293208	Aug 21, 2014 (142)
42	JMKIDD_LAB	ss1082617465	Aug 21, 2014 (142)
43	1000GENOMES	ss1366950031	Aug 21, 2014 (142)
44	DDI	ss1429240972	Apr 01, 2015 (144)
45	EVA_GENOME_DK	ss1579730312	Apr 01, 2015 (144)
46	EVA_UK10K_ALSPAC	ss1639879880	Apr 01, 2015 (144)
47	EVA_UK10K_TWINSUK	ss1682873913	Apr 01, 2015 (144)
48	EVA_DECODE	ss1699362262	Apr 01, 2015 (144)
49	EVA_SVP	ss1713736764	Apr 01, 2015 (144)
50	ILLUMINA	ss1752417634	Sep 08, 2015 (146)
51	HAMMER_LAB	ss1809764445	Sep 08, 2015 (146)
52	WEILL_CORNELL_DGM	ss1938859478	Feb 12, 2016 (147)
53	ILLUMINA	ss1959973482	Feb 12, 2016 (147)
54	GENOMED	ss1969261401	Jul 19, 2016 (147)
55	JJLAB	ss2030201766	Sep 14, 2016 (149)
56	USC_VALOUEV	ss2158817090	Dec 20, 2016 (150)
57	HUMAN_LONGEVITY	ss2246893612	Dec 20, 2016 (150)
58	SYSTEMSBIOZJU	ss2629599198	Nov 08, 2017 (151)
59	ILLUMINA	ss2633871009	Nov 08, 2017 (151)
60	ILLUMINA	ss2635111591	Nov 08, 2017 (151)
61	GRF	ss2704567809	Nov 08, 2017 (151)
62	ILLUMINA	ss2710955253	Nov 08, 2017 (151)
63	GNOMAD	ss2973771383	Nov 08, 2017 (151)
64	AFFY	ss2985852954	Nov 08, 2017 (151)
65	SWEGEN	ss3019213478	Nov 08, 2017 (151)
66	ILLUMINA	ss3022179985	Nov 08, 2017 (151)
67	BIOINF_KMB_FNS_UNIBA	ss3028938439	Nov 08, 2017 (151)
68	CSHL	ss3352811590	Nov 08, 2017 (151)
69	ILLUMINA	ss3628520964	Oct 12, 2018 (152)
70	ILLUMINA	ss3631822727	Oct 12, 2018 (152)
71	ILLUMINA	ss3633271305	Oct 12, 2018 (152)
72	ILLUMINA	ss3633986945	Oct 12, 2018 (152)
73	ILLUMINA	ss3634864650	Oct 12, 2018 (152)
74	ILLUMINA	ss3635671427	Oct 12, 2018 (152)
75	ILLUMINA	ss3636560610	Oct 12, 2018 (152)
76	ILLUMINA	ss3637423660	Oct 12, 2018 (152)
77	ILLUMINA	ss3638379142	Oct 12, 2018 (152)
78	ILLUMINA	ss3640571953	Oct 12, 2018 (152)
79	ILLUMINA	ss3643339159	Oct 12, 2018 (152)
80	URBANLAB	ss3651168091	Oct 12, 2018 (152)
81	ILLUMINA	ss3652642041	Oct 12, 2018 (152)
82	EGCUT_WGS	ss3685710413	Jul 13, 2019 (153)
83	EVA_DECODE	ss3708088308	Jul 13, 2019 (153)
84	ILLUMINA	ss3725963313	Jul 13, 2019 (153)
85	ACPOP	ss3743884332	Jul 13, 2019 (153)
86	ILLUMINA	ss3745164506	Jul 13, 2019 (153)
87	EVA	ss3759314934	Jul 13, 2019 (153)
88	PAGE_CC	ss3772087112	Jul 13, 2019 (153)
89	ILLUMINA	ss3772660444	Jul 13, 2019 (153)
90	PACBIO	ss3788813211	Jul 13, 2019 (153)
91	PACBIO	ss3793681514	Jul 13, 2019 (153)
92	PACBIO	ss3798567948	Jul 13, 2019 (153)
93	KHV_HUMAN_GENOMES	ss3822480155	Jul 13, 2019 (153)
94	EVA	ss3835962450	Apr 27, 2020 (154)
95	EVA	ss3841609644	Apr 27, 2020 (154)
96	EVA	ss3847124437	Apr 27, 2020 (154)
97	SGDP_PRJ	ss3890430264	Apr 27, 2020 (154)
98	KRGDB	ss3940822811	Apr 27, 2020 (154)
99	KOGIC	ss3983528683	Apr 27, 2020 (154)
100	EVA	ss3984759485	Apr 26, 2021 (155)
101	EVA	ss3985914329	Apr 26, 2021 (155)
102	EVA	ss4017877624	Apr 26, 2021 (155)
103	TOPMED	ss5107324573	Apr 26, 2021 (155)
104	TOMMO_GENOMICS	ss5232374599	Apr 26, 2021 (155)
105	1000G_HIGH_COVERAGE	ss5310909292	Oct 16, 2022 (156)
106	EVA	ss5316052429	Oct 16, 2022 (156)
107	EVA	ss5440956449	Oct 16, 2022 (156)
108	HUGCELL_USP	ss5502768512	Oct 16, 2022 (156)
109	EVA	ss5512362839	Oct 16, 2022 (156)
110	1000G_HIGH_COVERAGE	ss5618378194	Oct 16, 2022 (156)
111	SANFORD_IMAGENETICS	ss5624501676	Oct 16, 2022 (156)
112	SANFORD_IMAGENETICS	ss5664388302	Oct 16, 2022 (156)
113	TOMMO_GENOMICS	ss5793415128	Oct 16, 2022 (156)
114	EVA	ss5800039595	Oct 16, 2022 (156)
115	YY_MCH	ss5818664546	Oct 16, 2022 (156)
116	EVA	ss5821995993	Oct 16, 2022 (156)
117	EVA	ss5847517385	Oct 16, 2022 (156)
118	EVA	ss5847942065	Oct 16, 2022 (156)
119	EVA	ss5853373443	Oct 16, 2022 (156)
120	EVA	ss5881605000	Oct 16, 2022 (156)
121	EVA	ss5959239266	Oct 16, 2022 (156)
122	EVA	ss5979635635	Oct 16, 2022 (156)
123	EVA	ss5981130739	Oct 16, 2022 (156)
124	1000Genomes	NC_000022.10 - 29192670	Oct 12, 2018 (152)
125	1000Genomes_30x	NC_000022.11 - 28796682	Oct 16, 2022 (156)
126	The Avon Longitudinal Study of Parents and Children	NC_000022.10 - 29192670	Oct 12, 2018 (152)
127	Chileans	NC_000022.10 - 29192670	Apr 27, 2020 (154)
128	Genetic variation in the Estonian population	NC_000022.10 - 29192670	Oct 12, 2018 (152)
129	The Danish reference pan genome	NC_000022.10 - 29192670	Apr 27, 2020 (154)
130	gnomAD - Genomes Submission ignored due to conflicting rows: Row 568414087 (NC_000022.11:28796681:T:C 61110/139856) Row 568414088 (NC_000022.11:28796681:T:G 2/139906)	-	Apr 26, 2021 (155)
131	gnomAD - Genomes Submission ignored due to conflicting rows: Row 568414087 (NC_000022.11:28796681:T:C 61110/139856) Row 568414088 (NC_000022.11:28796681:T:G 2/139906)	-	Apr 26, 2021 (155)
132	Genome of the Netherlands Release 5	NC_000022.10 - 29192670	Apr 27, 2020 (154)
133	HapMap	NC_000022.11 - 28796682	Apr 27, 2020 (154)
134	KOREAN population from KRGDB	NC_000022.10 - 29192670	Apr 27, 2020 (154)
135	Korean Genome Project	NC_000022.11 - 28796682	Apr 27, 2020 (154)
136	Northern Sweden	NC_000022.10 - 29192670	Jul 13, 2019 (153)
137	The PAGE Study	NC_000022.11 - 28796682	Jul 13, 2019 (153)
138	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000022.10 - 29192670	Apr 26, 2021 (155)
139	CNV burdens in cranial meningiomas	NC_000022.10 - 29192670	Apr 26, 2021 (155)
140	Qatari	NC_000022.10 - 29192670	Apr 27, 2020 (154)
141	SGDP_PRJ	NC_000022.10 - 29192670	Apr 27, 2020 (154)
142	Siberian	NC_000022.10 - 29192670	Apr 27, 2020 (154)
143	8.3KJPN	NC_000022.10 - 29192670	Apr 26, 2021 (155)
144	14KJPN	NC_000022.11 - 28796682	Oct 16, 2022 (156)
145	TopMed	NC_000022.11 - 28796682	Apr 26, 2021 (155)
146	UK 10K study - Twins	NC_000022.10 - 29192670	Oct 12, 2018 (152)
147	A Vietnamese Genetic Variation Database	NC_000022.10 - 29192670	Jul 13, 2019 (153)
148	ALFA	NC_000022.11 - 28796682	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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
48000205, ss3940822811	NC_000022.10:29192669:T:A	NC_000022.11:28796681:T:A	(self)
ss76517193, ss114123169, ss117385465, ss160519717, ss167819594, ss169072701, ss171906350, ss204071218, ss208821046, ss210975332, ss283615743, ss287560212, ss292749840, ss480478914, ss1699362262, ss1713736764, ss2635111591, ss3643339159	NC_000022.9:27522669:T:C	NC_000022.11:28796681:T:C	(self)
80493989, 44521906, 269791, 31448661, 5895251, 19839986, 48000205, 17169197, 1140256, 309069, 20901400, 42447244, 11333444, 90343906, 44521906, 9824068, ss228652118, ss238047837, ss244171854, ss480493270, ss481293206, ss485036951, ss537059901, ss566602694, ss662533811, ss778860359, ss782964715, ss783926606, ss832220976, ss834321135, ss995293208, ss1082617465, ss1366950031, ss1429240972, ss1579730312, ss1639879880, ss1682873913, ss1752417634, ss1809764445, ss1938859478, ss1959973482, ss1969261401, ss2030201766, ss2158817090, ss2629599198, ss2633871009, ss2704567809, ss2710955253, ss2973771383, ss2985852954, ss3019213478, ss3022179985, ss3352811590, ss3628520964, ss3631822727, ss3633271305, ss3633986945, ss3634864650, ss3635671427, ss3636560610, ss3637423660, ss3638379142, ss3640571953, ss3652642041, ss3685710413, ss3743884332, ss3745164506, ss3759314934, ss3772660444, ss3788813211, ss3793681514, ss3798567948, ss3835962450, ss3841609644, ss3890430264, ss3940822811, ss3984759485, ss3985914329, ss4017877624, ss5232374599, ss5316052429, ss5440956449, ss5512362839, ss5624501676, ss5664388302, ss5800039595, ss5821995993, ss5847517385, ss5847942065, ss5959239266, ss5979635635, ss5981130739	NC_000022.10:29192669:T:C	NC_000022.11:28796681:T:C	(self)
105904129, 2242395, 39906684, 1308581, 127252232, 382433520, 12770253526, ss2246893612, ss3028938439, ss3651168091, ss3708088308, ss3725963313, ss3772087112, ss3822480155, ss3847124437, ss3983528683, ss5107324573, ss5310909292, ss5502768512, ss5618378194, ss5793415128, ss5818664546, ss5853373443, ss5881605000	NC_000022.11:28796681:T:C	NC_000022.11:28796681:T:C	(self)
ss13390552	NT_011520.9:8583238:T:C	NC_000022.11:28796681:T:C	(self)
ss3195205, ss5588000, ss8017179, ss44325108, ss48297727, ss75184203, ss96120452, ss106223226, ss119423414, ss143171542, ss173204834	NT_011520.12:8583238:T:C	NC_000022.11:28796681:T:C	(self)
48000205, ss3940822811	NC_000022.10:29192669:T:G	NC_000022.11:28796681:T:G	(self)
12770253526	NC_000022.11:28796681:T:G	NC_000022.11:28796681:T:G	(self)

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

5 citations for rs2239815

PMID	Title	Author	Year	Journal
26496489	Altered Gene Expression Associated with microRNA Binding Site Polymorphisms.	Võsa U et al.	2015	PloS one
26770579	Genetic variants at 6p21, 10q23, 16q21 and 22q12 are associated with esophageal cancer risk in a Chinese Han population.	Jia X et al.	2015	International journal of clinical and experimental medicine
30753320	Association of genetic variants in CHEK2 with oesophageal squamous cell carcinoma in the South African Black population.	Chen WC et al.	2019	Carcinogenesis
30793520	Cumulative evidence for association between genetic polymorphisms and esophageal cancer susceptibility: A review with evidence from meta-analysis and genome-wide association studies.	Tian J et al.	2019	Cancer medicine
31428123	Systematic Review of Genetic Factors in the Etiology of Esophageal Squamous Cell Carcinoma in African Populations.	Simba H et al.	2019	Frontiers in genetics

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

rs2239815