Name: rs2040704
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.

rs2040704

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr5:132637485 (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: A>G / A>T
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.337402 (89307/264690, TOPMED)
G=0.229747 (42890/186684, ALFA)
G=0.336764 (47048/139706, GnomAD) (+ 22 more)
G=0.39359 (30972/78692, PAGE_STUDY)
G=0.21675 (6125/28258, 14KJPN)
G=0.21331 (3575/16760, 8.3KJPN)
G=0.3392 (2172/6404, 1000G_30x)
G=0.3297 (1651/5008, 1000G)
G=0.3074 (1377/4480, Estonian)
G=0.2047 (789/3854, ALSPAC)
G=0.1928 (715/3708, TWINSUK)
G=0.1799 (527/2930, KOREAN)
G=0.2812 (585/2080, HGDP_Stanford)
G=0.1900 (348/1832, Korea1K)
G=0.3868 (666/1722, HapMap)
G=0.202 (202/998, GoNL)
G=0.165 (130/790, PRJEB37584)
G=0.157 (98/626, Chileans)
G=0.192 (115/600, NorthernSweden)
A=0.376 (94/250, SGDP_PRJ)
G=0.301 (65/216, Qatari)
G=0.32 (18/56, Ancient Sardinia)
G=0.23 (9/40, GENOME_DK)
A=0.50 (15/30, Siberian)
G=0.50 (15/30, Siberian)

Clinical Significance: Reported in ClinVar
Gene : Consequence: TH2LCRR : Intron Variant
RAD50 : Intron Variant
Publications: 4 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	186900	A=0.770262	G=0.229738, T=0.000000
European	Sub	159822	A=0.781106	G=0.218894, T=0.000000
African	Sub	5328	A=0.3876	G=0.6124, T=0.0000
African Others	Sub	192	A=0.318	G=0.682, T=0.000
African American	Sub	5136	A=0.3902	G=0.6098, T=0.0000
Asian	Sub	6350	A=0.8061	G=0.1939, T=0.0000
East Asian	Sub	4498	A=0.8179	G=0.1821, T=0.0000
Other Asian	Sub	1852	A=0.7775	G=0.2225, T=0.0000
Latin American 1	Sub	610	A=0.695	G=0.305, T=0.000
Latin American 2	Sub	3170	A=0.8066	G=0.1934, T=0.0000
South Asian	Sub	292	A=0.757	G=0.243, T=0.000
Other	Sub	11328	A=0.77136	G=0.22864, T=0.00000

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	A=0.662598	G=0.337402
Allele Frequency Aggregator	Total	Global	186684	A=0.770253	G=0.229747, T=0.000000
Allele Frequency Aggregator	European	Sub	159642	A=0.781085	G=0.218915, T=0.000000
Allele Frequency Aggregator	Other	Sub	11306	A=0.77136	G=0.22864, T=0.00000
Allele Frequency Aggregator	Asian	Sub	6350	A=0.8061	G=0.1939, T=0.0000
Allele Frequency Aggregator	African	Sub	5314	A=0.3873	G=0.6127, T=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	3170	A=0.8066	G=0.1934, T=0.0000
Allele Frequency Aggregator	Latin American 1	Sub	610	A=0.695	G=0.305, T=0.000
Allele Frequency Aggregator	South Asian	Sub	292	A=0.757	G=0.243, T=0.000
gnomAD - Genomes	Global	Study-wide	139706	A=0.663236	G=0.336764
gnomAD - Genomes	European	Sub	75742	A=0.77687	G=0.22313
gnomAD - Genomes	African	Sub	41734	A=0.39102	G=0.60898
gnomAD - Genomes	American	Sub	13642	A=0.79468	G=0.20532
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	A=0.7665	G=0.2335
gnomAD - Genomes	East Asian	Sub	3122	A=0.8258	G=0.1742
gnomAD - Genomes	Other	Sub	2142	A=0.7143	G=0.2857
The PAGE Study	Global	Study-wide	78692	A=0.60641	G=0.39359
The PAGE Study	AfricanAmerican	Sub	32512	A=0.40157	G=0.59843
The PAGE Study	Mexican	Sub	10808	A=0.80820	G=0.19180
The PAGE Study	Asian	Sub	8318	A=0.7891	G=0.2109
The PAGE Study	PuertoRican	Sub	7918	A=0.6999	G=0.3001
The PAGE Study	NativeHawaiian	Sub	4532	A=0.7509	G=0.2491
The PAGE Study	Cuban	Sub	4228	A=0.7405	G=0.2595
The PAGE Study	Dominican	Sub	3828	A=0.5870	G=0.4130
The PAGE Study	CentralAmerican	Sub	2450	A=0.7478	G=0.2522
The PAGE Study	SouthAmerican	Sub	1982	A=0.8098	G=0.1902
The PAGE Study	NativeAmerican	Sub	1260	A=0.7389	G=0.2611
The PAGE Study	SouthAsian	Sub	856	A=0.787	G=0.213
14KJPN	JAPANESE	Study-wide	28258	A=0.78325	G=0.21675
8.3KJPN	JAPANESE	Study-wide	16760	A=0.78669	G=0.21331
1000Genomes_30x	Global	Study-wide	6404	A=0.6608	G=0.3392
1000Genomes_30x	African	Sub	1786	A=0.3231	G=0.6769
1000Genomes_30x	Europe	Sub	1266	A=0.7954	G=0.2046
1000Genomes_30x	South Asian	Sub	1202	A=0.7596	G=0.2404
1000Genomes_30x	East Asian	Sub	1170	A=0.8051	G=0.1949
1000Genomes_30x	American	Sub	980	A=0.809	G=0.191
1000Genomes	Global	Study-wide	5008	A=0.6703	G=0.3297
1000Genomes	African	Sub	1322	A=0.3207	G=0.6793
1000Genomes	East Asian	Sub	1008	A=0.8095	G=0.1905
1000Genomes	Europe	Sub	1006	A=0.8022	G=0.1978
1000Genomes	South Asian	Sub	978	A=0.767	G=0.233
1000Genomes	American	Sub	694	A=0.807	G=0.193
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.6926	G=0.3074
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.7953	G=0.2047
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.8072	G=0.1928
KOREAN population from KRGDB	KOREAN	Study-wide	2930	A=0.8201	G=0.1799
HGDP-CEPH-db Supplement 1	Global	Study-wide	2080	A=0.7188	G=0.2812
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	468	A=0.825	G=0.175
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	A=0.775	G=0.225
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	A=0.680	G=0.320
HGDP-CEPH-db Supplement 1	Europe	Sub	320	A=0.775	G=0.225
HGDP-CEPH-db Supplement 1	Africa	Sub	242	A=0.269	G=0.731
HGDP-CEPH-db Supplement 1	America	Sub	216	A=0.833	G=0.167
HGDP-CEPH-db Supplement 1	Oceania	Sub	70	A=0.81	G=0.19
Korean Genome Project	KOREAN	Study-wide	1832	A=0.8100	G=0.1900
HapMap	Global	Study-wide	1722	A=0.6132	G=0.3868
HapMap	African	Sub	692	A=0.373	G=0.627
HapMap	American	Sub	600	A=0.752	G=0.248
HapMap	Asian	Sub	254	A=0.803	G=0.197
HapMap	Europe	Sub	176	A=0.812	G=0.188
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.798	G=0.202
CNV burdens in cranial meningiomas	Global	Study-wide	790	A=0.835	G=0.165
CNV burdens in cranial meningiomas	CRM	Sub	790	A=0.835	G=0.165
Chileans	Chilean	Study-wide	626	A=0.843	G=0.157
Northern Sweden	ACPOP	Study-wide	600	A=0.808	G=0.192
SGDP_PRJ	Global	Study-wide	250	A=0.376	G=0.624
Qatari	Global	Study-wide	216	A=0.699	G=0.301
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	56	A=0.68	G=0.32
The Danish reference pan genome	Danish	Study-wide	40	A=0.78	G=0.23
Siberian	Global	Study-wide	30	A=0.50	G=0.50

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.132637485A>G
GRCh38.p14 chr 5	NC_000005.10:g.132637485A>T
GRCh37.p13 chr 5	NC_000005.9:g.131973177A>G
GRCh37.p13 chr 5	NC_000005.9:g.131973177A>T
RAD50 RefSeqGene (LRG_312)	NG_021151.2:g.85509A>G
RAD50 RefSeqGene (LRG_312)	NG_021151.2:g.85509A>T
TH2-LCR genomic region	NG_042308.1:g.8323A>G
TH2-LCR genomic region	NG_042308.1:g.8323A>T

Gene: RAD50, RAD50 double strand break repair protein (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
RAD50 transcript	NM_005732.4:c.3475+285A>G	N/A	Intron Variant

Gene: TH2LCRR, T helper type 2 locus control region associated RNA (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
TH2LCRR transcript variant 1	NR_132124.1:n.	N/A	Intron Variant
TH2LCRR transcript variant 2	NR_132125.1:n.	N/A	Genic Downstream Transcript Variant
TH2LCRR transcript variant 3	NR_132126.1:n.	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.

Allele: G (allele ID: 1272290 )

ClinVar Accession	Disease Names	Clinical Significance
RCV001695828.1	not provided	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	A=	G	T
GRCh38.p14 chr 5	NC_000005.10:g.132637485=	NC_000005.10:g.132637485A>G	NC_000005.10:g.132637485A>T
GRCh37.p13 chr 5	NC_000005.9:g.131973177=	NC_000005.9:g.131973177A>G	NC_000005.9:g.131973177A>T
RAD50 RefSeqGene (LRG_312)	NG_021151.2:g.85509=	NG_021151.2:g.85509A>G	NG_021151.2:g.85509A>T
TH2-LCR genomic region	NG_042308.1:g.8323=	NG_042308.1:g.8323A>G	NG_042308.1:g.8323A>T
RAD50 transcript	NM_005732.3:c.3475+285=	NM_005732.3:c.3475+285A>G	NM_005732.3:c.3475+285A>T
RAD50 transcript	NM_005732.4:c.3475+285=	NM_005732.4:c.3475+285A>G	NM_005732.4:c.3475+285A>T

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#.

111 SubSNP, 24 Frequency, 1 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	TSC-CSHL	ss2950301	Apr 12, 2001 (94)
2	SC_JCM	ss5622720	Feb 20, 2003 (111)
3	BCM_SSAHASNP	ss10214394	Jul 11, 2003 (116)
4	KYUGEN	ss28459003	Sep 20, 2004 (123)
5	ABI	ss42515036	Mar 14, 2006 (126)
6	AFFY	ss66036198	Jul 04, 2010 (132)
7	ILLUMINA	ss67612172	Nov 30, 2006 (127)
8	ILLUMINA	ss71262049	May 17, 2007 (127)
9	ILLUMINA	ss75331861	Dec 07, 2007 (129)
10	AFFY	ss75924981	Dec 08, 2007 (130)
11	KRIBB_YJKIM	ss81667253	Dec 15, 2007 (130)
12	HGSV	ss83799987	Dec 14, 2007 (130)
13	HGSV	ss85435019	Dec 14, 2007 (130)
14	BCMHGSC_JDW	ss93254938	Mar 24, 2008 (129)
15	BGI	ss104241139	Feb 23, 2009 (131)
16	1000GENOMES	ss109426114	Jan 24, 2009 (130)
17	1000GENOMES	ss113283794	Jan 25, 2009 (130)
18	ILLUMINA-UK	ss116817580	Feb 14, 2009 (130)
19	ENSEMBL	ss143453159	Dec 01, 2009 (131)
20	COMPLETE_GENOMICS	ss165898719	Jul 04, 2010 (132)
21	AFFY	ss169197326	Jul 04, 2010 (132)
22	ILLUMINA	ss173063426	Jul 04, 2010 (132)
23	BUSHMAN	ss200878934	Jul 04, 2010 (132)
24	BCM-HGSC-SUB	ss207150044	Jul 04, 2010 (132)
25	1000GENOMES	ss221971496	Jul 14, 2010 (132)
26	1000GENOMES	ss233153575	Jul 14, 2010 (132)
27	1000GENOMES	ss240273251	Jul 15, 2010 (132)
28	GMI	ss278485518	May 04, 2012 (137)
29	PJP	ss293462565	May 09, 2011 (134)
30	EXOME_CHIP	ss491370709	May 04, 2012 (137)
31	ILLUMINA	ss537027592	Sep 08, 2015 (146)
32	TISHKOFF	ss558719280	Apr 25, 2013 (138)
33	SSMP	ss652618928	Apr 25, 2013 (138)
34	ILLUMINA	ss780682789	Aug 21, 2014 (142)
35	ILLUMINA	ss783356154	Aug 21, 2014 (142)
36	EVA-GONL	ss982134267	Aug 21, 2014 (142)
37	JMKIDD_LAB	ss1073050097	Aug 21, 2014 (142)
38	1000GENOMES	ss1317254841	Aug 21, 2014 (142)
39	DDI	ss1430506191	Apr 01, 2015 (144)
40	EVA_GENOME_DK	ss1581355414	Apr 01, 2015 (144)
41	EVA_DECODE	ss1591661260	Apr 01, 2015 (144)
42	EVA_UK10K_ALSPAC	ss1614031035	Apr 01, 2015 (144)
43	EVA_UK10K_TWINSUK	ss1657025068	Apr 01, 2015 (144)
44	EVA_SVP	ss1712800662	Apr 01, 2015 (144)
45	ILLUMINA	ss1752548521	Sep 08, 2015 (146)
46	HAMMER_LAB	ss1804086543	Sep 08, 2015 (146)
47	ILLUMINA	ss1917793684	Feb 12, 2016 (147)
48	WEILL_CORNELL_DGM	ss1925391704	Feb 12, 2016 (147)
49	ILLUMINA	ss1946155114	Feb 12, 2016 (147)
50	ILLUMINA	ss1958822736	Feb 12, 2016 (147)
51	JJLAB	ss2023301276	Sep 14, 2016 (149)
52	USC_VALOUEV	ss2151457128	Dec 20, 2016 (150)
53	HUMAN_LONGEVITY	ss2278229487	Dec 20, 2016 (150)
54	ILLUMINA	ss2634340660	Nov 08, 2017 (151)
55	ILLUMINA	ss2634340661	Nov 08, 2017 (151)
56	GRF	ss2707021011	Nov 08, 2017 (151)
57	GNOMAD	ss2830874470	Nov 08, 2017 (151)
58	AFFY	ss2985334352	Nov 08, 2017 (151)
59	AFFY	ss2985967613	Nov 08, 2017 (151)
60	SWEGEN	ss2997807013	Nov 08, 2017 (151)
61	ILLUMINA	ss3022530005	Nov 08, 2017 (151)
62	BIOINF_KMB_FNS_UNIBA	ss3025433352	Nov 08, 2017 (151)
63	CSHL	ss3346633143	Nov 08, 2017 (151)
64	ILLUMINA	ss3629342319	Oct 12, 2018 (152)
65	ILLUMINA	ss3629342320	Oct 12, 2018 (152)
66	ILLUMINA	ss3635021966	Oct 12, 2018 (152)
67	ILLUMINA	ss3638580587	Oct 12, 2018 (152)
68	ILLUMINA	ss3640729261	Oct 12, 2018 (152)
69	ILLUMINA	ss3643524535	Oct 12, 2018 (152)
70	ILLUMINA	ss3644888114	Oct 12, 2018 (152)
71	ILLUMINA	ss3653031596	Oct 12, 2018 (152)
72	ILLUMINA	ss3654106689	Oct 12, 2018 (152)
73	EGCUT_WGS	ss3665720685	Jul 13, 2019 (153)
74	EVA_DECODE	ss3715718932	Jul 13, 2019 (153)
75	ILLUMINA	ss3726270734	Jul 13, 2019 (153)
76	ACPOP	ss3732826175	Jul 13, 2019 (153)
77	ILLUMINA	ss3744539634	Jul 13, 2019 (153)
78	ILLUMINA	ss3745322160	Jul 13, 2019 (153)
79	EVA	ss3764072271	Jul 13, 2019 (153)
80	PAGE_CC	ss3771231227	Jul 13, 2019 (153)
81	ILLUMINA	ss3772816182	Jul 13, 2019 (153)
82	KHV_HUMAN_GENOMES	ss3807248040	Jul 13, 2019 (153)
83	EVA	ss3829509877	Apr 26, 2020 (154)
84	EVA	ss3838229615	Apr 26, 2020 (154)
85	EVA	ss3843672179	Apr 26, 2020 (154)
86	HGDP	ss3847807152	Apr 26, 2020 (154)
87	SGDP_PRJ	ss3862997897	Apr 26, 2020 (154)
88	KRGDB	ss3909635775	Apr 26, 2020 (154)
89	KOGIC	ss3957660384	Apr 26, 2020 (154)
90	EVA	ss3984554384	Apr 26, 2021 (155)
91	EVA	ss3985170482	Apr 26, 2021 (155)
92	TOPMED	ss4679032800	Apr 26, 2021 (155)
93	TOMMO_GENOMICS	ss5174178131	Apr 26, 2021 (155)
94	EVA	ss5237379777	Apr 26, 2021 (155)
95	1000G_HIGH_COVERAGE	ss5265877754	Oct 17, 2022 (156)
96	EVA	ss5315086601	Oct 17, 2022 (156)
97	EVA	ss5361021693	Oct 17, 2022 (156)
98	HUGCELL_USP	ss5463840143	Oct 17, 2022 (156)
99	EVA	ss5508219980	Oct 17, 2022 (156)
100	1000G_HIGH_COVERAGE	ss5550542287	Oct 17, 2022 (156)
101	SANFORD_IMAGENETICS	ss5624601832	Oct 17, 2022 (156)
102	SANFORD_IMAGENETICS	ss5638904245	Oct 17, 2022 (156)
103	TOMMO_GENOMICS	ss5711264445	Oct 17, 2022 (156)
104	YY_MCH	ss5806774846	Oct 17, 2022 (156)
105	EVA	ss5835655008	Oct 17, 2022 (156)
106	EVA	ss5847274664	Oct 17, 2022 (156)
107	EVA	ss5848064303	Oct 17, 2022 (156)
108	EVA	ss5855021799	Oct 17, 2022 (156)
109	EVA	ss5896359038	Oct 17, 2022 (156)
110	EVA	ss5967370330	Oct 17, 2022 (156)
111	EVA	ss5979754674	Oct 17, 2022 (156)
112	1000Genomes	NC_000005.9 - 131973177	Oct 12, 2018 (152)
113	1000Genomes_30x	NC_000005.10 - 132637485	Oct 17, 2022 (156)
114	The Avon Longitudinal Study of Parents and Children	NC_000005.9 - 131973177	Oct 12, 2018 (152)
115	Chileans	NC_000005.9 - 131973177	Apr 26, 2020 (154)
116	Genetic variation in the Estonian population	NC_000005.9 - 131973177	Oct 12, 2018 (152)
117	The Danish reference pan genome	NC_000005.9 - 131973177	Apr 26, 2020 (154)
118	gnomAD - Genomes	NC_000005.10 - 132637485	Apr 26, 2021 (155)
119	Genome of the Netherlands Release 5	NC_000005.9 - 131973177	Apr 26, 2020 (154)
120	HGDP-CEPH-db Supplement 1	NC_000005.8 - 132001076	Apr 26, 2020 (154)
121	HapMap	NC_000005.10 - 132637485	Apr 26, 2020 (154)
122	KOREAN population from KRGDB	NC_000005.9 - 131973177	Apr 26, 2020 (154)
123	Korean Genome Project	NC_000005.10 - 132637485	Apr 26, 2020 (154)
124	Northern Sweden	NC_000005.9 - 131973177	Jul 13, 2019 (153)
125	The PAGE Study	NC_000005.10 - 132637485	Jul 13, 2019 (153)
126	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000005.9 - 131973177	Apr 26, 2021 (155)
127	CNV burdens in cranial meningiomas	NC_000005.9 - 131973177	Apr 26, 2021 (155)
128	Qatari	NC_000005.9 - 131973177	Apr 26, 2020 (154)
129	SGDP_PRJ	NC_000005.9 - 131973177	Apr 26, 2020 (154)
130	Siberian	NC_000005.9 - 131973177	Apr 26, 2020 (154)
131	8.3KJPN	NC_000005.9 - 131973177	Apr 26, 2021 (155)
132	14KJPN	NC_000005.10 - 132637485	Oct 17, 2022 (156)
133	TopMed	NC_000005.10 - 132637485	Apr 26, 2021 (155)
134	UK 10K study - Twins	NC_000005.9 - 131973177	Oct 12, 2018 (152)
135	ALFA	NC_000005.10 - 132637485	Apr 26, 2021 (155)
136	ClinVar	RCV001695828.1	Oct 17, 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)
rs56594227	May 24, 2008 (130)
rs58107861	May 24, 2008 (130)
rs60700504	Feb 26, 2009 (130)
rs74291385	Dec 02, 2009 (131)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
485044, ss75924981, ss83799987, ss85435019, ss93254938, ss109426114, ss113283794, ss116817580, ss165898719, ss169197326, ss200878934, ss207150044, ss278485518, ss293462565, ss1591661260, ss1712800662, ss3643524535, ss3847807152	NC_000005.8:132001075:A:G	NC_000005.10:132637484:A:G	(self)
28934851, 16092611, 358700, 11458933, 7520353, 7153134, 16813169, 6111040, 396409, 103755, 7433634, 15014877, 3973482, 32147438, 16092611, ss221971496, ss233153575, ss240273251, ss491370709, ss537027592, ss558719280, ss652618928, ss780682789, ss783356154, ss982134267, ss1073050097, ss1317254841, ss1430506191, ss1581355414, ss1614031035, ss1657025068, ss1752548521, ss1804086543, ss1917793684, ss1925391704, ss1946155114, ss1958822736, ss2023301276, ss2151457128, ss2634340660, ss2634340661, ss2707021011, ss2830874470, ss2985334352, ss2985967613, ss2997807013, ss3022530005, ss3346633143, ss3629342319, ss3629342320, ss3635021966, ss3638580587, ss3640729261, ss3644888114, ss3653031596, ss3654106689, ss3665720685, ss3732826175, ss3744539634, ss3745322160, ss3764072271, ss3772816182, ss3829509877, ss3838229615, ss3862997897, ss3909635775, ss3984554384, ss3985170482, ss5174178131, ss5237379777, ss5315086601, ss5361021693, ss5508219980, ss5624601832, ss5638904245, ss5835655008, ss5847274664, ss5848064303, ss5967370330, ss5979754674	NC_000005.9:131973176:A:G	NC_000005.10:132637484:A:G	(self)
RCV001695828.1, 38068222, 204638540, 2970038, 14038385, 452696, 45101549, 516410357, 5553948099, ss2278229487, ss3025433352, ss3715718932, ss3726270734, ss3771231227, ss3807248040, ss3843672179, ss3957660384, ss4679032800, ss5265877754, ss5463840143, ss5550542287, ss5711264445, ss5806774846, ss5855021799, ss5896359038	NC_000005.10:132637484:A:G	NC_000005.10:132637484:A:G	(self)
ss10214394	NT_034772.4:34388197:A:G	NC_000005.10:132637484:A:G	(self)
ss2950301, ss5622720, ss28459003, ss42515036, ss67612172, ss71262049, ss75331861, ss81667253, ss104241139, ss143453159, ss173063426	NT_034772.6:40287048:A:G	NC_000005.10:132637484:A:G	(self)
ss66036198	NT_034772.7:82527677:A:G	NC_000005.10:132637484:A:G	(self)
5553948099	NC_000005.10:132637484:A:T	NC_000005.10:132637484:A:T	(self)

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

4 citations for rs2040704

PMID	Title	Author	Year	Journal
18846228	Genome-wide scan on total serum IgE levels identifies FCER1A as novel susceptibility locus.	Weidinger S et al.	2008	PLoS genetics
20159242	Genome-wide association study of asthma identifies RAD50-IL13 and HLA-DR/DQ regions.	Li X et al.	2010	The Journal of allergy and clinical immunology
27777593	Genetic and epigenetic studies of atopic dermatitis.	Bin L et al.	2016	Allergy, asthma, and clinical immunology
31872854	Genetic interactions between INPP4B and RAD50 is prognostic of breast cancer survival.	Chen X et al.	2020	Bioscience reports

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

rs2040704