Name: rs2126259
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.

rs2126259

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr8:9327636 (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=0.138944 (36777/264690, TOPMED)
T=0.097087 (21832/224870, ALFA)
T=0.133725 (18740/140138, GnomAD) (+ 20 more)
T=0.16475 (12966/78700, PAGE_STUDY)
T=0.01193 (337/28258, 14KJPN)
T=0.01265 (212/16760, 8.3KJPN)
T=0.1257 (805/6404, 1000G_30x)
T=0.1176 (589/5008, 1000G)
T=0.1022 (458/4480, Estonian)
T=0.1048 (404/3854, ALSPAC)
T=0.0987 (366/3708, TWINSUK)
T=0.0137 (40/2930, KOREAN)
T=0.1281 (267/2084, HGDP_Stanford)
T=0.1042 (197/1890, HapMap)
T=0.097 (97/998, GoNL)
T=0.014 (11/792, PRJEB37584)
T=0.118 (71/600, NorthernSweden)
T=0.103 (56/542, SGDP_PRJ)
T=0.042 (9/216, Qatari)
T=0.005 (1/214, Vietnamese)
T=0.00 (0/94, Ancient Sardinia)
T=0.11 (6/56, Siberian)
T=0.03 (1/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: LOC157273 : Intron Variant
Publications: 7 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	224964	T=0.097078	C=0.902922
European	Sub	192148	T=0.095104	C=0.904896
African	Sub	8128	T=0.1665	C=0.8335
African Others	Sub	308	T=0.198	C=0.802
African American	Sub	7820	T=0.1652	C=0.8348
Asian	Sub	6362	T=0.0237	C=0.9763
East Asian	Sub	4536	T=0.0139	C=0.9861
Other Asian	Sub	1826	T=0.0482	C=0.9518
Latin American 1	Sub	550	T=0.149	C=0.851
Latin American 2	Sub	1570	T=0.2420	C=0.7580
South Asian	Sub	5138	T=0.1255	C=0.8745
Other	Sub	11068	T=0.08619	C=0.91381

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").

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	T=0.138944	C=0.861056
Allele Frequency Aggregator	Total	Global	224870	T=0.097087	C=0.902913
Allele Frequency Aggregator	European	Sub	192072	T=0.095110	C=0.904890
Allele Frequency Aggregator	Other	Sub	11050	T=0.08624	C=0.91376
Allele Frequency Aggregator	African	Sub	8128	T=0.1665	C=0.8335
Allele Frequency Aggregator	Asian	Sub	6362	T=0.0237	C=0.9763
Allele Frequency Aggregator	South Asian	Sub	5138	T=0.1255	C=0.8745
Allele Frequency Aggregator	Latin American 2	Sub	1570	T=0.2420	C=0.7580
Allele Frequency Aggregator	Latin American 1	Sub	550	T=0.149	C=0.851
gnomAD - Genomes	Global	Study-wide	140138	T=0.133725	C=0.866275
gnomAD - Genomes	European	Sub	75904	T=0.10932	C=0.89068
gnomAD - Genomes	African	Sub	41984	T=0.16699	C=0.83301
gnomAD - Genomes	American	Sub	13640	T=0.21430	C=0.78570
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	T=0.0593	C=0.9407
gnomAD - Genomes	East Asian	Sub	3134	T=0.0118	C=0.9882
gnomAD - Genomes	Other	Sub	2152	T=0.1273	C=0.8727
The PAGE Study	Global	Study-wide	78700	T=0.16475	C=0.83525
The PAGE Study	AfricanAmerican	Sub	32514	T=0.16448	C=0.83552
The PAGE Study	Mexican	Sub	10810	T=0.28936	C=0.71064
The PAGE Study	Asian	Sub	8318	T=0.0165	C=0.9835
The PAGE Study	PuertoRican	Sub	7918	T=0.1766	C=0.8234
The PAGE Study	NativeHawaiian	Sub	4534	T=0.0390	C=0.9610
The PAGE Study	Cuban	Sub	4230	T=0.1187	C=0.8813
The PAGE Study	Dominican	Sub	3828	T=0.1792	C=0.8208
The PAGE Study	CentralAmerican	Sub	2450	T=0.2951	C=0.7049
The PAGE Study	SouthAmerican	Sub	1982	T=0.2775	C=0.7225
The PAGE Study	NativeAmerican	Sub	1260	T=0.1833	C=0.8167
The PAGE Study	SouthAsian	Sub	856	T=0.100	C=0.900
14KJPN	JAPANESE	Study-wide	28258	T=0.01193	C=0.98807
8.3KJPN	JAPANESE	Study-wide	16760	T=0.01265	C=0.98735
1000Genomes_30x	Global	Study-wide	6404	T=0.1257	C=0.8743
1000Genomes_30x	African	Sub	1786	T=0.1730	C=0.8270
1000Genomes_30x	Europe	Sub	1266	T=0.0869	C=0.9131
1000Genomes_30x	South Asian	Sub	1202	T=0.0882	C=0.9118
1000Genomes_30x	East Asian	Sub	1170	T=0.0120	C=0.9880
1000Genomes_30x	American	Sub	980	T=0.271	C=0.729
1000Genomes	Global	Study-wide	5008	T=0.1176	C=0.8824
1000Genomes	African	Sub	1322	T=0.1672	C=0.8328
1000Genomes	East Asian	Sub	1008	T=0.0119	C=0.9881
1000Genomes	Europe	Sub	1006	T=0.0865	C=0.9135
1000Genomes	South Asian	Sub	978	T=0.093	C=0.907
1000Genomes	American	Sub	694	T=0.256	C=0.744
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.1022	C=0.8978
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.1048	C=0.8952
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.0987	C=0.9013
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.0137	A=0.0000, C=0.9863, G=0.0000
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	T=0.1281	C=0.8719
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	T=0.034	C=0.966
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	T=0.114	C=0.886
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	T=0.071	C=0.929
HGDP-CEPH-db Supplement 1	Europe	Sub	320	T=0.078	C=0.922
HGDP-CEPH-db Supplement 1	Africa	Sub	242	T=0.182	C=0.818
HGDP-CEPH-db Supplement 1	America	Sub	216	T=0.394	C=0.606
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	T=0.35	C=0.65
HapMap	Global	Study-wide	1890	T=0.1042	C=0.8958
HapMap	American	Sub	770	T=0.113	C=0.887
HapMap	African	Sub	690	T=0.128	C=0.872
HapMap	Asian	Sub	254	T=0.016	C=0.984
HapMap	Europe	Sub	176	T=0.102	C=0.898
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.097	C=0.903
CNV burdens in cranial meningiomas	Global	Study-wide	792	T=0.014	C=0.986
CNV burdens in cranial meningiomas	CRM	Sub	792	T=0.014	C=0.986
Northern Sweden	ACPOP	Study-wide	600	T=0.118	C=0.882
SGDP_PRJ	Global	Study-wide	542	T=0.103	C=0.897
Qatari	Global	Study-wide	216	T=0.042	C=0.958
A Vietnamese Genetic Variation Database	Global	Study-wide	214	T=0.005	C=0.995
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	94	T=0.00	C=1.00
Siberian	Global	Study-wide	56	T=0.11	C=0.89
The Danish reference pan genome	Danish	Study-wide	40	T=0.03	C=0.97

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 8	NC_000008.11:g.9327636T>A
GRCh38.p14 chr 8	NC_000008.11:g.9327636T>C
GRCh38.p14 chr 8	NC_000008.11:g.9327636T>G
GRCh37.p13 chr 8	NC_000008.10:g.9185146T>A
GRCh37.p13 chr 8	NC_000008.10:g.9185146T>C
GRCh37.p13 chr 8	NC_000008.10:g.9185146T>G
GRCh38.p14 chr 8 fix patch HG76_PATCH	NW_018654717.1:g.4023882G>A
GRCh38.p14 chr 8 fix patch HG76_PATCH	NW_018654717.1:g.4023882G>T
GRCh38.p14 chr 8 fix patch HG76_PATCH	NW_018654717.1:g.4023882G>C

Gene: LOC157273, uncharacterized LOC157273 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LOC157273 transcript	NR_040039.1: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 8	NC_000008.11:g.9327636=	NC_000008.11:g.9327636T>A	NC_000008.11:g.9327636T>C	NC_000008.11:g.9327636T>G
GRCh37.p13 chr 8	NC_000008.10:g.9185146=	NC_000008.10:g.9185146T>A	NC_000008.10:g.9185146T>C	NC_000008.10:g.9185146T>G
GRCh38.p14 chr 8 fix patch HG76_PATCH	NW_018654717.1:g.4023882G>A	NW_018654717.1:g.4023882G>T	NW_018654717.1:g.4023882=	NW_018654717.1:g.4023882G>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#.

135 SubSNP, 23 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	TSC-CSHL	ss3049513	Jun 15, 2001 (96)
2	BCM_SSAHASNP	ss10451269	Jul 11, 2003 (116)
3	WI_SSAHASNP	ss11937068	Jul 11, 2003 (116)
4	WUGSC_SSAHASNP	ss14453740	Dec 05, 2003 (123)
5	CSHL-HAPMAP	ss17959470	Feb 27, 2004 (120)
6	PERLEGEN	ss23356890	Sep 20, 2004 (123)
7	ABI	ss44856327	Mar 15, 2006 (126)
8	ILLUMINA	ss66805683	Nov 30, 2006 (127)
9	ILLUMINA	ss67226526	Nov 30, 2006 (127)
10	ILLUMINA	ss67621502	Nov 30, 2006 (127)
11	ILLUMINA	ss70704826	May 26, 2008 (130)
12	ILLUMINA	ss71271399	May 17, 2007 (127)
13	ILLUMINA	ss75842319	Dec 06, 2007 (129)
14	HGSV	ss77569489	Dec 06, 2007 (129)
15	ILLUMINA	ss79115460	Dec 15, 2007 (130)
16	KRIBB_YJKIM	ss83977186	Dec 15, 2007 (130)
17	HGSV	ss85528139	Dec 15, 2007 (130)
18	BCMHGSC_JDW	ss93829057	Mar 25, 2008 (129)
19	HUMANGENOME_JCVI	ss98046227	Feb 06, 2009 (130)
20	BGI	ss105595545	Feb 06, 2009 (130)
21	1000GENOMES	ss112796716	Jan 25, 2009 (130)
22	1000GENOMES	ss114918966	Jan 25, 2009 (130)
23	ILLUMINA-UK	ss115841769	Feb 14, 2009 (130)
24	ILLUMINA	ss121922385	Dec 01, 2009 (131)
25	ENSEMBL	ss134302716	Dec 01, 2009 (131)
26	ENSEMBL	ss143237835	Dec 01, 2009 (131)
27	ILLUMINA	ss153859578	Dec 01, 2009 (131)
28	GMI	ss155970282	Dec 01, 2009 (131)
29	ILLUMINA	ss159360627	Dec 01, 2009 (131)
30	COMPLETE_GENOMICS	ss162111429	Jul 04, 2010 (132)
31	COMPLETE_GENOMICS	ss163874342	Jul 04, 2010 (132)
32	COMPLETE_GENOMICS	ss166183888	Jul 04, 2010 (132)
33	ILLUMINA	ss171031570	Jul 04, 2010 (132)
34	ILLUMINA	ss173129187	Jul 04, 2010 (132)
35	BUSHMAN	ss198741406	Jul 04, 2010 (132)
36	BCM-HGSC-SUB	ss208587962	Jul 04, 2010 (132)
37	1000GENOMES	ss223520904	Jul 14, 2010 (132)
38	1000GENOMES	ss234304416	Jul 15, 2010 (132)
39	1000GENOMES	ss241190118	Jul 15, 2010 (132)
40	BL	ss254071437	May 09, 2011 (134)
41	GMI	ss279675670	May 04, 2012 (137)
42	GMI	ss285784398	Apr 25, 2013 (138)
43	PJP	ss294140719	May 09, 2011 (134)
44	ILLUMINA	ss410919618	Sep 17, 2011 (135)
45	EXOME_CHIP	ss491409749	May 04, 2012 (137)
46	ILLUMINA	ss537042115	Sep 08, 2015 (146)
47	TISHKOFF	ss560523744	Apr 25, 2013 (138)
48	SSMP	ss654954084	Apr 25, 2013 (138)
49	ILLUMINA	ss780682990	Sep 08, 2015 (146)
50	ILLUMINA	ss783356367	Sep 08, 2015 (146)
51	ILLUMINA	ss825445978	Apr 01, 2015 (144)
52	ILLUMINA	ss832872517	Jul 13, 2019 (153)
53	EVA-GONL	ss985154914	Aug 21, 2014 (142)
54	JMKIDD_LAB	ss1075245513	Aug 21, 2014 (142)
55	1000GENOMES	ss1328469944	Aug 21, 2014 (142)
56	DDI	ss1431401239	Apr 01, 2015 (144)
57	EVA_GENOME_DK	ss1582542706	Apr 01, 2015 (144)
58	EVA_DECODE	ss1594741530	Apr 01, 2015 (144)
59	EVA_UK10K_ALSPAC	ss1619900886	Apr 01, 2015 (144)
60	EVA_UK10K_TWINSUK	ss1662894919	Apr 01, 2015 (144)
61	EVA_SVP	ss1713012131	Apr 01, 2015 (144)
62	ILLUMINA	ss1752746050	Sep 08, 2015 (146)
63	HAMMER_LAB	ss1805381375	Sep 08, 2015 (146)
64	ILLUMINA	ss1917825428	Feb 12, 2016 (147)
65	WEILL_CORNELL_DGM	ss1928438228	Feb 12, 2016 (147)
66	ILLUMINA	ss1946228926	Feb 12, 2016 (147)
67	ILLUMINA	ss1959084437	Feb 12, 2016 (147)
68	AMU	ss1966657217	Feb 12, 2016 (147)
69	GENOMED	ss1970899040	Jul 19, 2016 (147)
70	JJLAB	ss2024911344	Sep 14, 2016 (149)
71	USC_VALOUEV	ss2153136788	Dec 20, 2016 (150)
72	HUMAN_LONGEVITY	ss2300421774	Dec 20, 2016 (150)
73	SYSTEMSBIOZJU	ss2626943144	Nov 08, 2017 (151)
74	ILLUMINA	ss2634704980	Nov 08, 2017 (151)
75	GRF	ss2708889787	Nov 08, 2017 (151)
76	GNOMAD	ss2862873955	Nov 08, 2017 (151)
77	AFFY	ss2985430362	Nov 08, 2017 (151)
78	AFFY	ss2986072612	Nov 08, 2017 (151)
79	SWEGEN	ss3002615594	Nov 08, 2017 (151)
80	ILLUMINA	ss3022815652	Nov 08, 2017 (151)
81	BIOINF_KMB_FNS_UNIBA	ss3026245421	Nov 08, 2017 (151)
82	CSHL	ss3348023381	Nov 08, 2017 (151)
83	ILLUMINA	ss3629988752	Oct 12, 2018 (152)
84	ILLUMINA	ss3629988753	Oct 12, 2018 (152)
85	ILLUMINA	ss3635156890	Oct 12, 2018 (152)
86	ILLUMINA	ss3638741918	Oct 12, 2018 (152)
87	ILLUMINA	ss3639372839	Oct 12, 2018 (152)
88	ILLUMINA	ss3639715433	Oct 12, 2018 (152)
89	ILLUMINA	ss3640864180	Oct 12, 2018 (152)
90	ILLUMINA	ss3643674393	Oct 12, 2018 (152)
91	ILLUMINA	ss3644962091	Oct 12, 2018 (152)
92	URBANLAB	ss3648839323	Oct 12, 2018 (152)
93	ILLUMINA	ss3653353074	Oct 12, 2018 (152)
94	ILLUMINA	ss3654192043	Oct 12, 2018 (152)
95	EGCUT_WGS	ss3670310344	Jul 13, 2019 (153)
96	EVA_DECODE	ss3721345110	Jul 13, 2019 (153)
97	ILLUMINA	ss3726511156	Jul 13, 2019 (153)
98	ACPOP	ss3735367993	Jul 13, 2019 (153)
99	ILLUMINA	ss3744576702	Jul 13, 2019 (153)
100	ILLUMINA	ss3745456731	Jul 13, 2019 (153)
101	EVA	ss3767578021	Jul 13, 2019 (153)
102	PAGE_CC	ss3771421545	Jul 13, 2019 (153)
103	ILLUMINA	ss3772949377	Jul 13, 2019 (153)
104	PACBIO	ss3786053493	Jul 13, 2019 (153)
105	PACBIO	ss3791322979	Jul 13, 2019 (153)
106	PACBIO	ss3796204040	Jul 13, 2019 (153)
107	KHV_HUMAN_GENOMES	ss3810740077	Jul 13, 2019 (153)
108	EVA	ss3830994134	Apr 26, 2020 (154)
109	EVA	ss3839003176	Apr 26, 2020 (154)
110	EVA	ss3844462227	Apr 26, 2020 (154)
111	HGDP	ss3847902340	Apr 26, 2020 (154)
112	SGDP_PRJ	ss3869187104	Apr 26, 2020 (154)
113	KRGDB	ss3916604593	Apr 26, 2020 (154)
114	EVA	ss3984600442	Apr 26, 2021 (155)
115	EVA	ss3985340871	Apr 26, 2021 (155)
116	EVA	ss4017374569	Apr 26, 2021 (155)
117	TOPMED	ss4774542108	Apr 26, 2021 (155)
118	TOMMO_GENOMICS	ss5187157447	Apr 26, 2021 (155)
119	1000G_HIGH_COVERAGE	ss5275944133	Oct 14, 2022 (156)
120	EVA	ss5315306873	Oct 14, 2022 (156)
121	EVA	ss5378943230	Oct 14, 2022 (156)
122	HUGCELL_USP	ss5472640924	Oct 14, 2022 (156)
123	EVA	ss5509234611	Oct 14, 2022 (156)
124	1000G_HIGH_COVERAGE	ss5565666710	Oct 14, 2022 (156)
125	SANFORD_IMAGENETICS	ss5624684839	Oct 14, 2022 (156)
126	SANFORD_IMAGENETICS	ss5644693304	Oct 14, 2022 (156)
127	TOMMO_GENOMICS	ss5728638331	Oct 14, 2022 (156)
128	YY_MCH	ss5809412634	Oct 14, 2022 (156)
129	EVA	ss5830071371	Oct 14, 2022 (156)
130	EVA	ss5847333061	Oct 14, 2022 (156)
131	EVA	ss5848166030	Oct 14, 2022 (156)
132	EVA	ss5856237657	Oct 14, 2022 (156)
133	EVA	ss5887588612	Oct 14, 2022 (156)
134	EVA	ss5973874890	Oct 14, 2022 (156)
135	EVA	ss5979852908	Oct 14, 2022 (156)
136	1000Genomes	NC_000008.10 - 9185146	Oct 12, 2018 (152)
137	1000Genomes_30x	NC_000008.11 - 9327636	Oct 14, 2022 (156)
138	The Avon Longitudinal Study of Parents and Children	NC_000008.10 - 9185146	Oct 12, 2018 (152)
139	Genetic variation in the Estonian population	NC_000008.10 - 9185146	Oct 12, 2018 (152)
140	The Danish reference pan genome	NC_000008.10 - 9185146	Apr 26, 2020 (154)
141	gnomAD - Genomes	NC_000008.11 - 9327636	Apr 26, 2021 (155)
142	Genome of the Netherlands Release 5	NC_000008.10 - 9185146	Apr 26, 2020 (154)
143	HGDP-CEPH-db Supplement 1	NC_000008.9 - 9222556	Apr 26, 2020 (154)
144	HapMap	NC_000008.11 - 9327636	Apr 26, 2020 (154)
145	KOREAN population from KRGDB	NC_000008.10 - 9185146	Apr 26, 2020 (154)
146	Northern Sweden	NC_000008.10 - 9185146	Jul 13, 2019 (153)
147	The PAGE Study	NC_000008.11 - 9327636	Jul 13, 2019 (153)
148	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000008.10 - 9185146	Apr 26, 2021 (155)
149	CNV burdens in cranial meningiomas	NC_000008.10 - 9185146	Apr 26, 2021 (155)
150	Qatari	NC_000008.10 - 9185146	Apr 26, 2020 (154)
151	SGDP_PRJ	NC_000008.10 - 9185146	Apr 26, 2020 (154)
152	Siberian	NC_000008.10 - 9185146	Apr 26, 2020 (154)
153	8.3KJPN	NC_000008.10 - 9185146	Apr 26, 2021 (155)
154	14KJPN	NC_000008.11 - 9327636	Oct 14, 2022 (156)
155	TopMed	NC_000008.11 - 9327636	Apr 26, 2021 (155)
156	UK 10K study - Twins	NC_000008.10 - 9185146	Oct 12, 2018 (152)
157	A Vietnamese Genetic Variation Database	NC_000008.10 - 9185146	Jul 13, 2019 (153)
158	ALFA	NC_000008.11 - 9327636	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)
rs10321548	Sep 24, 2004 (123)
rs17149780	Oct 08, 2004 (123)
rs60484430	May 26, 2008 (130)
rs386558067	Aug 21, 2014 (142)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
23781987, ss3916604593	NC_000008.10:9185145:T:A	NC_000008.11:9327635:T:A	(self)
580232, ss77569489, ss85528139, ss93829057, ss112796716, ss114918966, ss115841769, ss162111429, ss163874342, ss166183888, ss198741406, ss208587962, ss254071437, ss279675670, ss285784398, ss294140719, ss825445978, ss1594741530, ss1713012131, ss3639372839, ss3639715433, ss3643674393, ss3847902340	NC_000008.9:9222555:T:C	NC_000008.11:9327635:T:C	(self)
40554051, 22547144, 16048592, 8707644, 10072094, 23781987, 8652858, 566798, 149876, 10480158, 21204084, 5653142, 45126754, 22547144, 5022576, ss223520904, ss234304416, ss241190118, ss491409749, ss537042115, ss560523744, ss654954084, ss780682990, ss783356367, ss832872517, ss985154914, ss1075245513, ss1328469944, ss1431401239, ss1582542706, ss1619900886, ss1662894919, ss1752746050, ss1805381375, ss1917825428, ss1928438228, ss1946228926, ss1959084437, ss1966657217, ss1970899040, ss2024911344, ss2153136788, ss2626943144, ss2634704980, ss2708889787, ss2862873955, ss2985430362, ss2986072612, ss3002615594, ss3022815652, ss3348023381, ss3629988752, ss3629988753, ss3635156890, ss3638741918, ss3640864180, ss3644962091, ss3653353074, ss3654192043, ss3670310344, ss3735367993, ss3744576702, ss3745456731, ss3767578021, ss3772949377, ss3786053493, ss3791322979, ss3796204040, ss3830994134, ss3839003176, ss3869187104, ss3916604593, ss3984600442, ss3985340871, ss4017374569, ss5187157447, ss5315306873, ss5378943230, ss5509234611, ss5624684839, ss5644693304, ss5830071371, ss5847333061, ss5848166030, ss5973874890, ss5979852908	NC_000008.10:9185145:T:C	NC_000008.11:9327635:T:C	(self)
53192645, 286096176, 3557686, 643014, 62475435, 611919668, 5910687170, ss2300421774, ss3026245421, ss3648839323, ss3721345110, ss3726511156, ss3771421545, ss3810740077, ss3844462227, ss4774542108, ss5275944133, ss5472640924, ss5565666710, ss5728638331, ss5809412634, ss5856237657, ss5887588612	NC_000008.11:9327635:T:C	NC_000008.11:9327635:T:C	(self)
ss10451269, ss11937068	NT_077531.2:1495178:T:C	NC_000008.11:9327635:T:C	(self)
ss14453740, ss17959470	NT_077531.3:1660496:T:C	NC_000008.11:9327635:T:C	(self)
ss3049513, ss23356890, ss44856327, ss66805683, ss67226526, ss67621502, ss70704826, ss71271399, ss75842319, ss79115460, ss83977186, ss98046227, ss105595545, ss121922385, ss134302716, ss143237835, ss153859578, ss155970282, ss159360627, ss171031570, ss173129187, ss410919618	NT_077531.4:1660496:T:C	NC_000008.11:9327635:T:C	(self)
23781987, ss3916604593	NC_000008.10:9185145:T:G	NC_000008.11:9327635:T:G	(self)

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

7 citations for rs2126259

PMID	Title	Author	Year	Journal
20864672	Genetic variants influencing circulating lipid levels and risk of coronary artery disease.	Waterworth DM et al.	2010	Arteriosclerosis, thrombosis, and vascular biology
21498636	Genome-wide "pleiotropy scan" identifies HNF1A region as a novel pancreatic cancer susceptibility locus.	Pierce BL et al.	2011	Cancer research
22315312	Genetic predisposition to dyslipidemia and type 2 diabetes risk in two prospective cohorts.	Qi Q et al.	2012	Diabetes
23343124	Association of PPP1R3B polymorphisms with blood lipid and C-reactive protein levels in a Chinese population (PPP1R3B C ).	Zhang Y et al.	2013	Journal of diabetes
27286809	Bivariate genome-wide association study identifies novel pleiotropic loci for lipids and inflammation.	Ligthart S et al.	2016	BMC genomics
28577571	Genetic determinants of inherited susceptibility to hypercholesterolemia - a comprehensive literature review.	Paththinige CS et al.	2017	Lipids in health and disease
35124268	Mendelian Randomization Analysis Reveals No Causal Relationship Between Nonalcoholic Fatty Liver Disease and Severe COVID-19.	Li J et al.	2022	Clinical gastroenterology and hepatology

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.
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs2126259