Name: rs2075033
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.

rs2075033

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr12:535171 (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: G>A
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.103000 (27263/264690, TOPMED)
A=0.089559 (22325/249278, GnomAD_exome)
A=0.081174 (18937/233288, ALFA) (+ 25 more)
A=0.102864 (14419/140176, GnomAD)
A=0.094222 (11168/118528, ExAC)
A=0.12064 (9453/78360, PAGE_STUDY)
A=0.17202 (4861/28258, 14KJPN)
A=0.17273 (2895/16760, 8.3KJPN)
A=0.10311 (1341/13006, GO-ESP)
A=0.1135 (727/6404, 1000G_30x)
A=0.1144 (573/5008, 1000G)
A=0.1069 (479/4480, Estonian)
A=0.0662 (255/3854, ALSPAC)
A=0.0717 (266/3708, TWINSUK)
A=0.1719 (502/2920, KOREAN)
A=0.1372 (259/1888, HapMap)
A=0.1818 (333/1832, Korea1K)
A=0.050 (50/998, GoNL)
A=0.170 (134/790, PRJEB37584)
A=0.088 (53/600, NorthernSweden)
A=0.081 (43/534, MGP)
A=0.151 (46/304, FINRISK)
A=0.185 (40/216, Qatari)
A=0.075 (16/214, Vietnamese)
G=0.45 (41/92, SGDP_PRJ)
A=0.05 (2/40, GENOME_DK)
G=0.5 (3/6, Siberian)
A=0.5 (3/6, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: B4GALNT3 : Missense 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	249052	G=0.918330	A=0.081670
European	Sub	203566	G=0.924334	A=0.075666
African	Sub	12594	G=0.85652	A=0.14348
African Others	Sub	432	G=0.808	A=0.192
African American	Sub	12162	G=0.85825	A=0.14175
Asian	Sub	3690	G=0.8409	A=0.1591
East Asian	Sub	2342	G=0.8377	A=0.1623
Other Asian	Sub	1348	G=0.8464	A=0.1536
Latin American 1	Sub	1072	G=0.8927	A=0.1073
Latin American 2	Sub	6334	G=0.9299	A=0.0701
South Asian	Sub	190	G=0.932	A=0.068
Other	Sub	21606	G=0.90878	A=0.09122

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	G=0.897000	A=0.103000
gnomAD - Exomes	Global	Study-wide	249278	G=0.910441	A=0.089559
gnomAD - Exomes	European	Sub	134026	G=0.918934	A=0.081066
gnomAD - Exomes	Asian	Sub	48888	G=0.89040	A=0.10960
gnomAD - Exomes	American	Sub	34326	G=0.93795	A=0.06205
gnomAD - Exomes	African	Sub	15964	G=0.84052	A=0.15948
gnomAD - Exomes	Ashkenazi Jewish	Sub	10002	G=0.91082	A=0.08918
gnomAD - Exomes	Other	Sub	6072	G=0.9121	A=0.0879
Allele Frequency Aggregator	Total	Global	233288	G=0.918826	A=0.081174
Allele Frequency Aggregator	European	Sub	193966	G=0.923853	A=0.076147
Allele Frequency Aggregator	Other	Sub	20210	G=0.90757	A=0.09243
Allele Frequency Aggregator	African	Sub	7826	G=0.8543	A=0.1457
Allele Frequency Aggregator	Latin American 2	Sub	6334	G=0.9299	A=0.0701
Allele Frequency Aggregator	Asian	Sub	3690	G=0.8409	A=0.1591
Allele Frequency Aggregator	Latin American 1	Sub	1072	G=0.8927	A=0.1073
Allele Frequency Aggregator	South Asian	Sub	190	G=0.932	A=0.068
gnomAD - Genomes	Global	Study-wide	140176	G=0.897136	A=0.102864
gnomAD - Genomes	European	Sub	75910	G=0.92076	A=0.07924
gnomAD - Genomes	African	Sub	42002	G=0.84848	A=0.15152
gnomAD - Genomes	American	Sub	13660	G=0.92365	A=0.07635
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	G=0.9054	A=0.0946
gnomAD - Genomes	East Asian	Sub	3130	G=0.8540	A=0.1460
gnomAD - Genomes	Other	Sub	2154	G=0.8951	A=0.1049
ExAC	Global	Study-wide	118528	G=0.905778	A=0.094222
ExAC	Europe	Sub	71320	G=0.91568	A=0.08432
ExAC	Asian	Sub	24866	G=0.89037	A=0.10963
ExAC	American	Sub	11438	G=0.93513	A=0.06487
ExAC	African	Sub	10024	G=0.83958	A=0.16042
ExAC	Other	Sub	880	G=0.911	A=0.089
The PAGE Study	Global	Study-wide	78360	G=0.87936	A=0.12064
The PAGE Study	AfricanAmerican	Sub	32310	G=0.85088	A=0.14912
The PAGE Study	Mexican	Sub	10774	G=0.93605	A=0.06395
The PAGE Study	Asian	Sub	8296	G=0.8367	A=0.1633
The PAGE Study	PuertoRican	Sub	7894	G=0.8952	A=0.1048
The PAGE Study	NativeHawaiian	Sub	4514	G=0.9134	A=0.0866
The PAGE Study	Cuban	Sub	4224	G=0.9072	A=0.0928
The PAGE Study	Dominican	Sub	3808	G=0.8800	A=0.1200
The PAGE Study	CentralAmerican	Sub	2448	G=0.9146	A=0.0854
The PAGE Study	SouthAmerican	Sub	1976	G=0.9332	A=0.0668
The PAGE Study	NativeAmerican	Sub	1260	G=0.9127	A=0.0873
The PAGE Study	SouthAsian	Sub	856	G=0.915	A=0.085
14KJPN	JAPANESE	Study-wide	28258	G=0.82798	A=0.17202
8.3KJPN	JAPANESE	Study-wide	16760	G=0.82727	A=0.17273
GO Exome Sequencing Project	Global	Study-wide	13006	G=0.89689	A=0.10311
GO Exome Sequencing Project	European American	Sub	8600	G=0.9207	A=0.0793
GO Exome Sequencing Project	African American	Sub	4406	G=0.8504	A=0.1496
1000Genomes_30x	Global	Study-wide	6404	G=0.8865	A=0.1135
1000Genomes_30x	African	Sub	1786	G=0.8287	A=0.1713
1000Genomes_30x	Europe	Sub	1266	G=0.9179	A=0.0821
1000Genomes_30x	South Asian	Sub	1202	G=0.9251	A=0.0749
1000Genomes_30x	East Asian	Sub	1170	G=0.8735	A=0.1265
1000Genomes_30x	American	Sub	980	G=0.919	A=0.081
1000Genomes	Global	Study-wide	5008	G=0.8856	A=0.1144
1000Genomes	African	Sub	1322	G=0.8313	A=0.1687
1000Genomes	East Asian	Sub	1008	G=0.8611	A=0.1389
1000Genomes	Europe	Sub	1006	G=0.9205	A=0.0795
1000Genomes	South Asian	Sub	978	G=0.927	A=0.073
1000Genomes	American	Sub	694	G=0.915	A=0.085
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.8931	A=0.1069
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.9338	A=0.0662
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.9283	A=0.0717
KOREAN population from KRGDB	KOREAN	Study-wide	2920	G=0.8281	A=0.1719
HapMap	Global	Study-wide	1888	G=0.8628	A=0.1372
HapMap	American	Sub	768	G=0.893	A=0.107
HapMap	African	Sub	692	G=0.816	A=0.184
HapMap	Asian	Sub	254	G=0.862	A=0.138
HapMap	Europe	Sub	174	G=0.914	A=0.086
Korean Genome Project	KOREAN	Study-wide	1832	G=0.8182	A=0.1818
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.950	A=0.050
CNV burdens in cranial meningiomas	Global	Study-wide	790	G=0.830	A=0.170
CNV burdens in cranial meningiomas	CRM	Sub	790	G=0.830	A=0.170
Northern Sweden	ACPOP	Study-wide	600	G=0.912	A=0.088
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	G=0.919	A=0.081
FINRISK	Finnish from FINRISK project	Study-wide	304	G=0.849	A=0.151
Qatari	Global	Study-wide	216	G=0.815	A=0.185
A Vietnamese Genetic Variation Database	Global	Study-wide	214	G=0.925	A=0.075
SGDP_PRJ	Global	Study-wide	92	G=0.45	A=0.55
The Danish reference pan genome	Danish	Study-wide	40	G=0.95	A=0.05
Siberian	Global	Study-wide	6	G=0.5	A=0.5

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 12	NC_000012.12:g.535171G>A
GRCh37.p13 chr 12	NC_000012.11:g.644337G>A

Gene: B4GALNT3, beta-1,4-N-acetyl-galactosaminyltransferase 3 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
B4GALNT3 transcript	NM_173593.4:c.175G>A	G [GGC] > S [AGC]	Coding Sequence Variant
beta-1,4-N-acetylgalactosaminyltransferase 3	NP_775864.3:p.Gly59Ser	G (Gly) > S (Ser)	Missense 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	G=	A
GRCh38.p14 chr 12	NC_000012.12:g.535171=	NC_000012.12:g.535171G>A
GRCh37.p13 chr 12	NC_000012.11:g.644337=	NC_000012.11:g.644337G>A
B4GALNT3 transcript	NM_173593.4:c.175=	NM_173593.4:c.175G>A
B4GALNT3 transcript	NM_173593.3:c.175=	NM_173593.3:c.175G>A
beta-1,4-N-acetylgalactosaminyltransferase 3	NP_775864.3:p.Gly59=	NP_775864.3:p.Gly59Ser

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, 27 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	YUSUKE	ss2989931	Jun 15, 2001 (96)
2	HGBASE	ss3183893	Aug 15, 2001 (98)
3	ILLUMINA	ss65726214	Oct 14, 2006 (127)
4	PERLEGEN	ss69097929	May 16, 2007 (127)
5	AFFY	ss74806799	Aug 16, 2007 (128)
6	ILLUMINA	ss74874340	Dec 07, 2007 (129)
7	1000GENOMES	ss111351881	Jan 25, 2009 (130)
8	1000GENOMES	ss115424092	Jan 25, 2009 (130)
9	ILLUMINA-UK	ss118505588	Feb 14, 2009 (130)
10	GMI	ss157001414	Dec 01, 2009 (131)
11	SEATTLESEQ	ss159725308	Dec 01, 2009 (131)
12	ILLUMINA	ss160499073	Dec 01, 2009 (131)
13	COMPLETE_GENOMICS	ss168827602	Jul 04, 2010 (132)
14	ILLUMINA	ss173101545	Jul 04, 2010 (132)
15	1000GENOMES	ss225562772	Jul 14, 2010 (132)
16	1000GENOMES	ss235791533	Jul 15, 2010 (132)
17	1000GENOMES	ss242376440	Jul 15, 2010 (132)
18	GMI	ss281240554	May 04, 2012 (137)
19	GMI	ss286489710	Apr 25, 2013 (138)
20	NHLBI-ESP	ss342346239	May 09, 2011 (134)
21	ILLUMINA	ss480414162	May 04, 2012 (137)
22	ILLUMINA	ss480427585	May 04, 2012 (137)
23	ILLUMINA	ss481210946	Sep 08, 2015 (146)
24	ILLUMINA	ss485004594	May 04, 2012 (137)
25	1000GENOMES	ss491033847	May 04, 2012 (137)
26	EXOME_CHIP	ss491462266	May 04, 2012 (137)
27	CLINSEQ_SNP	ss491657746	May 04, 2012 (137)
28	ILLUMINA	ss537035329	Sep 08, 2015 (146)
29	TISHKOFF	ss562942758	Apr 25, 2013 (138)
30	SSMP	ss658467332	Apr 25, 2013 (138)
31	ILLUMINA	ss778480029	Sep 08, 2015 (146)
32	ILLUMINA	ss782948615	Sep 08, 2015 (146)
33	ILLUMINA	ss783593890	Sep 08, 2015 (146)
34	ILLUMINA	ss783910956	Sep 08, 2015 (146)
35	ILLUMINA	ss832204501	Sep 08, 2015 (146)
36	ILLUMINA	ss833935895	Sep 08, 2015 (146)
37	EVA-GONL	ss989153896	Aug 21, 2014 (142)
38	JMKIDD_LAB	ss1067530276	Aug 21, 2014 (142)
39	1000GENOMES	ss1343687414	Aug 21, 2014 (142)
40	DDI	ss1426816748	Apr 01, 2015 (144)
41	EVA_GENOME_DK	ss1576064117	Apr 01, 2015 (144)
42	EVA_FINRISK	ss1584079437	Apr 01, 2015 (144)
43	EVA_DECODE	ss1598824805	Apr 01, 2015 (144)
44	EVA_UK10K_ALSPAC	ss1627854531	Apr 01, 2015 (144)
45	EVA_UK10K_TWINSUK	ss1670848564	Apr 01, 2015 (144)
46	EVA_EXAC	ss1690730051	Apr 01, 2015 (144)
47	EVA_MGP	ss1711315861	Apr 01, 2015 (144)
48	EVA_SVP	ss1713300300	Apr 01, 2015 (144)
49	ILLUMINA	ss1752076939	Sep 08, 2015 (146)
50	ILLUMINA	ss1752076940	Sep 08, 2015 (146)
51	ILLUMINA	ss1917869122	Feb 12, 2016 (147)
52	WEILL_CORNELL_DGM	ss1932513558	Feb 12, 2016 (147)
53	ILLUMINA	ss1946328446	Feb 12, 2016 (147)
54	ILLUMINA	ss1959404589	Feb 12, 2016 (147)
55	JJLAB	ss2027003938	Sep 14, 2016 (149)
56	USC_VALOUEV	ss2155322070	Dec 20, 2016 (150)
57	HUMAN_LONGEVITY	ss2187177650	Dec 20, 2016 (150)
58	ILLUMINA	ss2632913416	Nov 08, 2017 (151)
59	GRF	ss2699640099	Nov 08, 2017 (151)
60	GNOMAD	ss2739539207	Nov 08, 2017 (151)
61	GNOMAD	ss2748785231	Nov 08, 2017 (151)
62	GNOMAD	ss2906455344	Nov 08, 2017 (151)
63	AFFY	ss2984964177	Nov 08, 2017 (151)
64	SWEGEN	ss3009070188	Nov 08, 2017 (151)
65	ILLUMINA	ss3021396814	Nov 08, 2017 (151)
66	BIOINF_KMB_FNS_UNIBA	ss3027304676	Nov 08, 2017 (151)
67	ILLUMINA	ss3626795208	Oct 12, 2018 (152)
68	ILLUMINA	ss3626795209	Oct 12, 2018 (152)
69	ILLUMINA	ss3630925786	Oct 12, 2018 (152)
70	ILLUMINA	ss3633006973	Oct 12, 2018 (152)
71	ILLUMINA	ss3633707303	Oct 12, 2018 (152)
72	ILLUMINA	ss3634485931	Oct 12, 2018 (152)
73	ILLUMINA	ss3634485932	Oct 12, 2018 (152)
74	ILLUMINA	ss3635398418	Oct 12, 2018 (152)
75	ILLUMINA	ss3636170209	Oct 12, 2018 (152)
76	ILLUMINA	ss3637149359	Oct 12, 2018 (152)
77	ILLUMINA	ss3637941821	Oct 12, 2018 (152)
78	ILLUMINA	ss3640193266	Oct 12, 2018 (152)
79	ILLUMINA	ss3640193267	Oct 12, 2018 (152)
80	ILLUMINA	ss3641023889	Oct 12, 2018 (152)
81	ILLUMINA	ss3641318478	Oct 12, 2018 (152)
82	ILLUMINA	ss3642937328	Oct 12, 2018 (152)
83	ILLUMINA	ss3644581379	Oct 12, 2018 (152)
84	OMUKHERJEE_ADBS	ss3646435699	Oct 12, 2018 (152)
85	ILLUMINA	ss3651767457	Oct 12, 2018 (152)
86	ILLUMINA	ss3653736397	Oct 12, 2018 (152)
87	EGCUT_WGS	ss3676401350	Jul 13, 2019 (153)
88	EVA_DECODE	ss3692953247	Jul 13, 2019 (153)
89	ILLUMINA	ss3725295054	Jul 13, 2019 (153)
90	ACPOP	ss3738698176	Jul 13, 2019 (153)
91	ILLUMINA	ss3744390365	Jul 13, 2019 (153)
92	ILLUMINA	ss3744786659	Jul 13, 2019 (153)
93	ILLUMINA	ss3744786660	Jul 13, 2019 (153)
94	EVA	ss3750040847	Jul 13, 2019 (153)
95	PAGE_CC	ss3771667726	Jul 13, 2019 (153)
96	ILLUMINA	ss3772286286	Jul 13, 2019 (153)
97	ILLUMINA	ss3772286287	Jul 13, 2019 (153)
98	KHV_HUMAN_GENOMES	ss3815358879	Jul 13, 2019 (153)
99	EVA	ss3824692139	Apr 26, 2020 (154)
100	EVA	ss3825814008	Apr 26, 2020 (154)
101	EVA	ss3840027984	Apr 26, 2020 (154)
102	EVA	ss3845510195	Apr 26, 2020 (154)
103	SGDP_PRJ	ss3877515807	Apr 26, 2020 (154)
104	KRGDB	ss3926006175	Apr 26, 2020 (154)
105	KOGIC	ss3971112695	Apr 26, 2020 (154)
106	FSA-LAB	ss3984018267	Apr 26, 2021 (155)
107	EVA	ss3984660778	Apr 26, 2021 (155)
108	EVA	ss3986553661	Apr 26, 2021 (155)
109	EVA	ss4017569413	Apr 26, 2021 (155)
110	TOPMED	ss4906073976	Apr 26, 2021 (155)
111	TOMMO_GENOMICS	ss5204696909	Apr 26, 2021 (155)
112	EVA	ss5236901603	Apr 26, 2021 (155)
113	EVA	ss5237505137	Apr 26, 2021 (155)
114	1000G_HIGH_COVERAGE	ss5289525367	Oct 13, 2022 (156)
115	TRAN_CS_UWATERLOO	ss5314434064	Oct 13, 2022 (156)
116	EVA	ss5315593052	Oct 13, 2022 (156)
117	EVA	ss5403413607	Oct 13, 2022 (156)
118	HUGCELL_USP	ss5484449582	Oct 13, 2022 (156)
119	1000G_HIGH_COVERAGE	ss5586320037	Oct 13, 2022 (156)
120	EVA	ss5623955943	Oct 13, 2022 (156)
121	SANFORD_IMAGENETICS	ss5624291911	Oct 13, 2022 (156)
122	SANFORD_IMAGENETICS	ss5652429012	Oct 13, 2022 (156)
123	TOMMO_GENOMICS	ss5753378731	Oct 13, 2022 (156)
124	EVA	ss5799860983	Oct 13, 2022 (156)
125	EVA	ss5800173509	Oct 13, 2022 (156)
126	YY_MCH	ss5812933062	Oct 13, 2022 (156)
127	EVA	ss5837475998	Oct 13, 2022 (156)
128	EVA	ss5847402365	Oct 13, 2022 (156)
129	EVA	ss5847656282	Oct 13, 2022 (156)
130	EVA	ss5848342314	Oct 13, 2022 (156)
131	EVA	ss5850226324	Oct 13, 2022 (156)
132	EVA	ss5902973792	Oct 13, 2022 (156)
133	EVA	ss5943776782	Oct 13, 2022 (156)
134	EVA	ss5979379173	Oct 13, 2022 (156)
135	EVA	ss5980714020	Oct 13, 2022 (156)
136	1000Genomes	NC_000012.11 - 644337	Oct 12, 2018 (152)
137	1000Genomes_30x	NC_000012.12 - 535171	Oct 13, 2022 (156)
138	The Avon Longitudinal Study of Parents and Children	NC_000012.11 - 644337	Oct 12, 2018 (152)
139	Genetic variation in the Estonian population	NC_000012.11 - 644337	Oct 12, 2018 (152)
140	ExAC	NC_000012.11 - 644337	Oct 12, 2018 (152)
141	FINRISK	NC_000012.11 - 644337	Apr 26, 2020 (154)
142	The Danish reference pan genome	NC_000012.11 - 644337	Apr 26, 2020 (154)
143	gnomAD - Genomes	NC_000012.12 - 535171	Apr 26, 2021 (155)
144	gnomAD - Exomes	NC_000012.11 - 644337	Jul 13, 2019 (153)
145	GO Exome Sequencing Project	NC_000012.11 - 644337	Oct 12, 2018 (152)
146	Genome of the Netherlands Release 5	NC_000012.11 - 644337	Apr 26, 2020 (154)
147	HapMap	NC_000012.12 - 535171	Apr 26, 2020 (154)
148	KOREAN population from KRGDB	NC_000012.11 - 644337	Apr 26, 2020 (154)
149	Korean Genome Project	NC_000012.12 - 535171	Apr 26, 2020 (154)
150	Medical Genome Project healthy controls from Spanish population	NC_000012.11 - 644337	Apr 26, 2020 (154)
151	Northern Sweden	NC_000012.11 - 644337	Jul 13, 2019 (153)
152	The PAGE Study	NC_000012.12 - 535171	Jul 13, 2019 (153)
153	CNV burdens in cranial meningiomas	NC_000012.11 - 644337	Apr 26, 2021 (155)
154	Qatari	NC_000012.11 - 644337	Apr 26, 2020 (154)
155	SGDP_PRJ	NC_000012.11 - 644337	Apr 26, 2020 (154)
156	Siberian	NC_000012.11 - 644337	Apr 26, 2020 (154)
157	8.3KJPN	NC_000012.11 - 644337	Apr 26, 2021 (155)
158	14KJPN	NC_000012.12 - 535171	Oct 13, 2022 (156)
159	TopMed	NC_000012.12 - 535171	Apr 26, 2021 (155)
160	UK 10K study - Twins	NC_000012.11 - 644337	Oct 12, 2018 (152)
161	A Vietnamese Genetic Variation Database	NC_000012.11 - 644337	Jul 13, 2019 (153)
162	ALFA	NC_000012.12 - 535171	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)
rs52814513	Sep 21, 2007 (128)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss111351881, ss115424092, ss118505588, ss168827602, ss281240554, ss286489710, ss480414162, ss491657746, ss1598824805, ss1713300300, ss3642937328	NC_000012.10:514597:G:A	NC_000012.12:535170:G:A	(self)
56294449, 31261178, 22139598, 1013034, 75898, 2809543, 8762431, 1149649, 13946170, 33183569, 431621, 11983041, 210269, 14555488, 29532787, 7838424, 62666216, 31261178, 6935391, ss225562772, ss235791533, ss242376440, ss342346239, ss480427585, ss481210946, ss485004594, ss491033847, ss491462266, ss537035329, ss562942758, ss658467332, ss778480029, ss782948615, ss783593890, ss783910956, ss832204501, ss833935895, ss989153896, ss1067530276, ss1343687414, ss1426816748, ss1576064117, ss1584079437, ss1627854531, ss1670848564, ss1690730051, ss1711315861, ss1752076939, ss1752076940, ss1917869122, ss1932513558, ss1946328446, ss1959404589, ss2027003938, ss2155322070, ss2632913416, ss2699640099, ss2739539207, ss2748785231, ss2906455344, ss2984964177, ss3009070188, ss3021396814, ss3626795208, ss3626795209, ss3630925786, ss3633006973, ss3633707303, ss3634485931, ss3634485932, ss3635398418, ss3636170209, ss3637149359, ss3637941821, ss3640193266, ss3640193267, ss3641023889, ss3641318478, ss3644581379, ss3646435699, ss3651767457, ss3653736397, ss3676401350, ss3738698176, ss3744390365, ss3744786659, ss3744786660, ss3750040847, ss3772286286, ss3772286287, ss3824692139, ss3825814008, ss3840027984, ss3877515807, ss3926006175, ss3984018267, ss3984660778, ss3986553661, ss4017569413, ss5204696909, ss5237505137, ss5315593052, ss5403413607, ss5623955943, ss5624291911, ss5652429012, ss5799860983, ss5800173509, ss5837475998, ss5847402365, ss5847656282, ss5848342314, ss5943776782, ss5979379173, ss5980714020	NC_000012.11:644336:G:A	NC_000012.12:535170:G:A	(self)
73845972, 397042139, 738983, 27490696, 889195, 87215835, 121619633, 8268144913, ss2187177650, ss3027304676, ss3692953247, ss3725295054, ss3771667726, ss3815358879, ss3845510195, ss3971112695, ss4906073976, ss5236901603, ss5289525367, ss5314434064, ss5484449582, ss5586320037, ss5753378731, ss5812933062, ss5850226324, ss5902973792	NC_000012.12:535170:G:A	NC_000012.12:535170:G:A	(self)
ss2989931, ss3183893, ss65726214, ss69097929, ss74806799, ss74874340, ss157001414, ss159725308, ss160499073, ss173101545	NT_009759.16:584336:G:A	NC_000012.12:535170:G:A	(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 rs2075033

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

rs2075033