Name: rs28362682
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.

rs28362682

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr6:32405086 (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>C / A>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.102331 (27086/264690, TOPMED)
T=0.114985 (28409/247066, GnomAD_exome)
T=0.103811 (14530/139966, GnomAD) (+ 23 more)
T=0.113272 (13193/116472, ExAC)
T=0.077155 (8838/114548, ALFA)
T=0.13970 (10994/78700, PAGE_STUDY)
T=0.18448 (5213/28258, 14KJPN)
T=0.18317 (3070/16760, 8.3KJPN)
T=0.0910 (768/8440, GO-ESP)
T=0.1327 (850/6404, 1000G_30x)
T=0.1342 (672/5008, 1000G)
T=0.1192 (534/4480, Estonian)
T=0.0656 (253/3854, ALSPAC)
T=0.0583 (216/3708, TWINSUK)
T=0.1863 (546/2930, KOREAN)
T=0.067 (67/998, GoNL)
T=0.148 (117/790, PRJEB37584)
T=0.315 (194/615, Vietnamese)
T=0.137 (82/600, NorthernSweden)
T=0.073 (39/534, MGP)
T=0.178 (54/304, FINRISK)
T=0.056 (12/216, Qatari)
A=0.453 (68/150, SGDP_PRJ)
T=0.10 (4/40, GENOME_DK)
A=0.50 (8/16, Siberian)
T=0.50 (8/16, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: BTNL2 : Missense Variant
TSBP1-AS1 : Intron Variant
Publications: 1 citation
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	114548	A=0.922845	C=0.000000, T=0.077155
European	Sub	96886	A=0.93006	C=0.00000, T=0.06994
African	Sub	4278	A=0.8953	C=0.0000, T=0.1047
African Others	Sub	164	A=0.878	C=0.000, T=0.122
African American	Sub	4114	A=0.8960	C=0.0000, T=0.1040
Asian	Sub	3326	A=0.7971	C=0.0000, T=0.2029
East Asian	Sub	2670	A=0.8071	C=0.0000, T=0.1929
Other Asian	Sub	656	A=0.756	C=0.000, T=0.244
Latin American 1	Sub	790	A=0.896	C=0.000, T=0.104
Latin American 2	Sub	946	A=0.837	C=0.000, T=0.163
South Asian	Sub	274	A=0.938	C=0.000, T=0.062
Other	Sub	8048	A=0.9148	C=0.0000, T=0.0852

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=0.897669	T=0.102331
gnomAD - Exomes	Global	Study-wide	247066	A=0.885015	T=0.114985
gnomAD - Exomes	European	Sub	132594	A=0.907748	T=0.092252
gnomAD - Exomes	Asian	Sub	48658	A=0.86905	T=0.13095
gnomAD - Exomes	American	Sub	34482	A=0.79778	T=0.20222
gnomAD - Exomes	African	Sub	15274	A=0.87836	T=0.12164
gnomAD - Exomes	Ashkenazi Jewish	Sub	9980	A=0.9647	T=0.0353
gnomAD - Exomes	Other	Sub	6078	A=0.8977	T=0.1023
gnomAD - Genomes	Global	Study-wide	139966	A=0.896189	T=0.103811
gnomAD - Genomes	European	Sub	75812	A=0.91052	T=0.08948
gnomAD - Genomes	African	Sub	41944	A=0.88230	T=0.11770
gnomAD - Genomes	American	Sub	13626	A=0.86761	T=0.13239
gnomAD - Genomes	Ashkenazi Jewish	Sub	3318	A=0.9662	T=0.0338
gnomAD - Genomes	East Asian	Sub	3116	A=0.7991	T=0.2009
gnomAD - Genomes	Other	Sub	2150	A=0.8758	T=0.1242
ExAC	Global	Study-wide	116472	A=0.886728	T=0.113272
ExAC	Europe	Sub	70088	A=0.91008	T=0.08992
ExAC	Asian	Sub	24774	A=0.87535	T=0.12465
ExAC	American	Sub	11460	A=0.77478	T=0.22522
ExAC	African	Sub	9278	A=0.8777	T=0.1223
ExAC	Other	Sub	872	A=0.900	T=0.100
Allele Frequency Aggregator	Total	Global	114548	A=0.922845	C=0.000000, T=0.077155
Allele Frequency Aggregator	European	Sub	96886	A=0.93006	C=0.00000, T=0.06994
Allele Frequency Aggregator	Other	Sub	8048	A=0.9148	C=0.0000, T=0.0852
Allele Frequency Aggregator	African	Sub	4278	A=0.8953	C=0.0000, T=0.1047
Allele Frequency Aggregator	Asian	Sub	3326	A=0.7971	C=0.0000, T=0.2029
Allele Frequency Aggregator	Latin American 2	Sub	946	A=0.837	C=0.000, T=0.163
Allele Frequency Aggregator	Latin American 1	Sub	790	A=0.896	C=0.000, T=0.104
Allele Frequency Aggregator	South Asian	Sub	274	A=0.938	C=0.000, T=0.062
The PAGE Study	Global	Study-wide	78700	A=0.86030	T=0.13970
The PAGE Study	AfricanAmerican	Sub	32514	A=0.88116	T=0.11884
The PAGE Study	Mexican	Sub	10810	A=0.81064	T=0.18936
The PAGE Study	Asian	Sub	8318	A=0.8120	T=0.1880
The PAGE Study	PuertoRican	Sub	7918	A=0.8940	T=0.1060
The PAGE Study	NativeHawaiian	Sub	4534	A=0.7975	T=0.2025
The PAGE Study	Cuban	Sub	4230	A=0.8910	T=0.1090
The PAGE Study	Dominican	Sub	3828	A=0.8827	T=0.1173
The PAGE Study	CentralAmerican	Sub	2450	A=0.8902	T=0.1098
The PAGE Study	SouthAmerican	Sub	1982	A=0.8300	T=0.1700
The PAGE Study	NativeAmerican	Sub	1260	A=0.8881	T=0.1119
The PAGE Study	SouthAsian	Sub	856	A=0.877	T=0.123
14KJPN	JAPANESE	Study-wide	28258	A=0.81552	T=0.18448
8.3KJPN	JAPANESE	Study-wide	16760	A=0.81683	T=0.18317
GO Exome Sequencing Project	Global	Study-wide	8440	A=0.9090	T=0.0910
GO Exome Sequencing Project	European American	Sub	5418	A=0.9210	T=0.0790
GO Exome Sequencing Project	African American	Sub	3022	A=0.8875	T=0.1125
1000Genomes_30x	Global	Study-wide	6404	A=0.8673	T=0.1327
1000Genomes_30x	African	Sub	1786	A=0.8639	T=0.1361
1000Genomes_30x	Europe	Sub	1266	A=0.9084	T=0.0916
1000Genomes_30x	South Asian	Sub	1202	A=0.8935	T=0.1065
1000Genomes_30x	East Asian	Sub	1170	A=0.8026	T=0.1974
1000Genomes_30x	American	Sub	980	A=0.865	T=0.135
1000Genomes	Global	Study-wide	5008	A=0.8658	T=0.1342
1000Genomes	African	Sub	1322	A=0.8631	T=0.1369
1000Genomes	East Asian	Sub	1008	A=0.8016	T=0.1984
1000Genomes	Europe	Sub	1006	A=0.9026	T=0.0974
1000Genomes	South Asian	Sub	978	A=0.900	T=0.100
1000Genomes	American	Sub	694	A=0.863	T=0.137
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.8808	T=0.1192
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.9344	T=0.0656
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.9417	T=0.0583
KOREAN population from KRGDB	KOREAN	Study-wide	2930	A=0.8137	T=0.1863
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.933	T=0.067
CNV burdens in cranial meningiomas	Global	Study-wide	790	A=0.852	T=0.148
CNV burdens in cranial meningiomas	CRM	Sub	790	A=0.852	T=0.148
A Vietnamese Genetic Variation Database	Global	Study-wide	615	A=0.685	T=0.315
Northern Sweden	ACPOP	Study-wide	600	A=0.863	T=0.137
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	A=0.927	T=0.073
FINRISK	Finnish from FINRISK project	Study-wide	304	A=0.822	T=0.178
Qatari	Global	Study-wide	216	A=0.944	T=0.056
SGDP_PRJ	Global	Study-wide	150	A=0.453	T=0.547
The Danish reference pan genome	Danish	Study-wide	40	A=0.90	T=0.10
Siberian	Global	Study-wide	16	A=0.50	T=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 6	NC_000006.12:g.32405086A>C
GRCh38.p14 chr 6	NC_000006.12:g.32405086A>T
GRCh37.p13 chr 6	NC_000006.11:g.32372863A>C
GRCh37.p13 chr 6	NC_000006.11:g.32372863A>T
BTNL2 RefSeqGene	NG_054759.1:g.8794T>G
BTNL2 RefSeqGene	NG_054759.1:g.8794T>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.3:g.3843163A>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.3:g.3843163A>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.2:g.3843269A>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.2:g.3843269A>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_APD_CTG1	NT_167244.2:g.3737315A>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_APD_CTG1	NT_167244.2:g.3737315A>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_APD_CTG1	NT_167244.1:g.3687231A>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_APD_CTG1	NT_167244.1:g.3687231A>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.2:g.3628121A>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.2:g.3628121A>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.1:g.3633717A>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.1:g.3633717A>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.2:g.3710102A>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.2:g.3710102A>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.1:g.3715722A>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.1:g.3715722A>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.2:g.3721012A>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.2:g.3721012A>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.1:g.3720310A>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.1:g.3720310A>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.2:g.3746840A>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.2:g.3746840A>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.1:g.3752425A>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.1:g.3752425A>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.2:g.3646163A>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.2:g.3646163A>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.1:g.3651748A>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.1:g.3651748A>T
GRCh38.p14 chr 6 alt locus HSCHR6_8_CTG1	NT_187692.1:g.48871T>G
GRCh38.p14 chr 6 alt locus HSCHR6_8_CTG1	NT_187692.1:g.48871T>A

Gene: BTNL2, butyrophilin like 2 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
BTNL2 transcript	NM_001304561.2:c.280T>G	W [TGG] > G [GGG]	Coding Sequence Variant
butyrophilin-like protein 2 precursor	NP_001291490.1:p.Trp94Gly	W (Trp) > G (Gly)	Missense Variant
BTNL2 transcript	NM_001304561.2:c.280T>A	W [TGG] > R [AGG]	Coding Sequence Variant
butyrophilin-like protein 2 precursor	NP_001291490.1:p.Trp94Arg	W (Trp) > R (Arg)	Missense Variant

Gene: TSBP1-AS1, TSBP1 and BTNL2 antisense RNA 1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
TSBP1-AS1 transcript variant 2	NR_136245.1:n.	N/A	Intron Variant
TSBP1-AS1 transcript variant 1	NR_136244.1:n.	N/A	Genic Downstream Transcript Variant
TSBP1-AS1 transcript variant 3	NR_136246.1: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.

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	A=	C	T
GRCh38.p14 chr 6	NC_000006.12:g.32405086=	NC_000006.12:g.32405086A>C	NC_000006.12:g.32405086A>T
GRCh37.p13 chr 6	NC_000006.11:g.32372863=	NC_000006.11:g.32372863A>C	NC_000006.11:g.32372863A>T
BTNL2 RefSeqGene	NG_054759.1:g.8794=	NG_054759.1:g.8794T>G	NG_054759.1:g.8794T>A
BTNL2 transcript	NM_001304561.2:c.280=	NM_001304561.2:c.280T>G	NM_001304561.2:c.280T>A
BTNL2 transcript	NM_001304561.1:c.280=	NM_001304561.1:c.280T>G	NM_001304561.1:c.280T>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.3:g.3843163=	NT_113891.3:g.3843163A>C	NT_113891.3:g.3843163A>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.2:g.3843269=	NT_113891.2:g.3843269A>C	NT_113891.2:g.3843269A>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_APD_CTG1	NT_167244.2:g.3737315=	NT_167244.2:g.3737315A>C	NT_167244.2:g.3737315A>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_APD_CTG1	NT_167244.1:g.3687231=	NT_167244.1:g.3687231A>C	NT_167244.1:g.3687231A>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.2:g.3628121=	NT_167248.2:g.3628121A>C	NT_167248.2:g.3628121A>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.1:g.3633717=	NT_167248.1:g.3633717A>C	NT_167248.1:g.3633717A>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.2:g.3710102=	NT_167246.2:g.3710102A>C	NT_167246.2:g.3710102A>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.1:g.3715722=	NT_167246.1:g.3715722A>C	NT_167246.1:g.3715722A>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.2:g.3721012=	NT_167249.2:g.3721012A>C	NT_167249.2:g.3721012A>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.1:g.3720310=	NT_167249.1:g.3720310A>C	NT_167249.1:g.3720310A>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.2:g.3746840=	NT_167247.2:g.3746840A>C	NT_167247.2:g.3746840A>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.1:g.3752425=	NT_167247.1:g.3752425A>C	NT_167247.1:g.3752425A>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.2:g.3646163=	NT_167245.2:g.3646163A>C	NT_167245.2:g.3646163A>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.1:g.3651748=	NT_167245.1:g.3651748A>C	NT_167245.1:g.3651748A>T
GRCh38.p14 chr 6 alt locus HSCHR6_8_CTG1	NT_187692.1:g.48871=	NT_187692.1:g.48871T>G	NT_187692.1:g.48871T>A
BTNL2 transcript	NM_019602.1:c.280=	NM_019602.1:c.280T>G	NM_019602.1:c.280T>A
butyrophilin-like protein 2 precursor	NP_001291490.1:p.Trp94=	NP_001291490.1:p.Trp94Gly	NP_001291490.1:p.Trp94Arg
butyrophilin-like protein 2	NP_062548.1:p.Trp94=	NP_062548.1:p.Trp94Gly	NP_062548.1:p.Trp94Arg

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#.

99 SubSNP, 25 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	MRG	ss35077901	May 24, 2005 (125)
2	EILEEN	ss65713152	Nov 29, 2006 (127)
3	CORNELL	ss86247715	Mar 23, 2008 (129)
4	BCMHGSC_JDW	ss93437784	Mar 24, 2008 (129)
5	1000GENOMES	ss114152257	Jan 25, 2009 (137)
6	SEATTLESEQ	ss159712210	Dec 01, 2009 (131)
7	COMPLETE_GENOMICS	ss163354932	Jul 04, 2010 (132)
8	COMPLETE_GENOMICS	ss166440903	Jul 04, 2010 (132)
9	1000GENOMES	ss222307026	Jul 14, 2010 (137)
10	1000GENOMES	ss233401861	Jul 14, 2010 (137)
11	1000GENOMES	ss240472649	Jul 15, 2010 (137)
12	GMI	ss278730319	May 04, 2012 (137)
13	NHLBI-ESP	ss342208155	May 09, 2011 (137)
14	EXOME_CHIP	ss491383103	May 04, 2012 (137)
15	CLINSEQ_SNP	ss491886313	May 04, 2012 (137)
16	ILLUMINA	ss532968459	Sep 08, 2015 (146)
17	TISHKOFF	ss559117821	Apr 25, 2013 (138)
18	SSMP	ss653040558	Apr 25, 2013 (138)
19	ILLUMINA	ss780847912	Aug 21, 2014 (142)
20	ILLUMINA	ss783531598	Aug 21, 2014 (142)
21	EVA-GONL	ss982773581	Aug 21, 2014 (142)
22	JMKIDD_LAB	ss1067477801	Aug 21, 2014 (142)
23	1000GENOMES	ss1319578875	Aug 21, 2014 (142)
24	EVA_GENOME_DK	ss1581609934	Apr 01, 2015 (144)
25	EVA_FINRISK	ss1584045700	Apr 01, 2015 (144)
26	EVA_DECODE	ss1592317158	Apr 01, 2015 (144)
27	EVA_UK10K_ALSPAC	ss1615288929	Apr 01, 2015 (144)
28	EVA_UK10K_TWINSUK	ss1658282962	Apr 01, 2015 (144)
29	EVA_EXAC	ss1688256585	Apr 01, 2015 (144)
30	EVA_MGP	ss1711122851	Apr 01, 2015 (144)
31	ILLUMINA	ss1752630778	Sep 08, 2015 (146)
32	HAMMER_LAB	ss1804360943	Sep 08, 2015 (146)
33	ILLUMINA	ss1917803404	Feb 12, 2016 (147)
34	WEILL_CORNELL_DGM	ss1926025672	Feb 12, 2016 (147)
35	ILLUMINA	ss1946174508	Feb 12, 2016 (147)
36	ILLUMINA	ss1958891487	Feb 12, 2016 (147)
37	ILLUMINA	ss1958891488	Feb 12, 2016 (147)
38	GENOMED	ss1970359283	Jul 19, 2016 (147)
39	JJLAB	ss2023646643	Sep 14, 2016 (149)
40	USC_VALOUEV	ss2151814082	Dec 20, 2016 (150)
41	HUMAN_LONGEVITY	ss2282982933	Dec 20, 2016 (150)
42	SYSTEMSBIOZJU	ss2626311165	Nov 08, 2017 (151)
43	GRF	ss2707408130	Nov 08, 2017 (151)
44	ILLUMINA	ss2711070427	Nov 08, 2017 (151)
45	GNOMAD	ss2735690407	Nov 08, 2017 (151)
46	GNOMAD	ss2747593564	Nov 08, 2017 (151)
47	AFFY	ss2985363551	Nov 08, 2017 (151)
48	SWEGEN	ss2998807823	Nov 08, 2017 (151)
49	ILLUMINA	ss3022602438	Nov 08, 2017 (151)
50	ILLUMINA	ss3022602439	Nov 08, 2017 (151)
51	BIOINF_KMB_FNS_UNIBA	ss3025610484	Nov 08, 2017 (151)
52	ILLUMINA	ss3629508723	Oct 12, 2018 (152)
53	ILLUMINA	ss3629508724	Oct 12, 2018 (152)
54	ILLUMINA	ss3635059104	Oct 12, 2018 (152)
55	ILLUMINA	ss3640766403	Oct 12, 2018 (152)
56	ILLUMINA	ss3644907566	Oct 12, 2018 (152)
57	OMUKHERJEE_ADBS	ss3646335880	Oct 12, 2018 (152)
58	ILLUMINA	ss3653115630	Oct 12, 2018 (152)
59	ILLUMINA	ss3653115631	Oct 12, 2018 (152)
60	ILLUMINA	ss3654129360	Oct 12, 2018 (152)
61	EGCUT_WGS	ss3666721159	Jul 13, 2019 (153)
62	EVA_DECODE	ss3716921576	Jul 13, 2019 (153)
63	ILLUMINA	ss3726332468	Jul 13, 2019 (153)
64	ACPOP	ss3733368371	Jul 13, 2019 (153)
65	ILLUMINA	ss3744551178	Jul 13, 2019 (153)
66	ILLUMINA	ss3745359074	Jul 13, 2019 (153)
67	EVA	ss3764831044	Jul 13, 2019 (153)
68	PAGE_CC	ss3771281226	Jul 13, 2019 (153)
69	ILLUMINA	ss3772852750	Jul 13, 2019 (153)
70	KHV_HUMAN_GENOMES	ss3807985808	Jul 13, 2019 (153)
71	EVA	ss3824174674	Apr 26, 2020 (154)
72	EVA	ss3825695517	Apr 26, 2020 (154)
73	SGDP_PRJ	ss3864267855	Apr 26, 2020 (154)
74	KRGDB	ss3911045215	Apr 26, 2020 (154)
75	EVA	ss3984566281	Apr 26, 2021 (155)
76	EVA	ss3986034818	Apr 26, 2021 (155)
77	VINODS	ss4025190401	Apr 26, 2021 (155)
78	VINODS	ss4025210910	Apr 26, 2021 (155)
79	TOPMED	ss4698554209	Apr 26, 2021 (155)
80	TOMMO_GENOMICS	ss5176863744	Apr 26, 2021 (155)
81	EVA	ss5237022967	Apr 26, 2021 (155)
82	EVA	ss5237646127	Oct 17, 2022 (156)
83	1000G_HIGH_COVERAGE	ss5267956150	Oct 17, 2022 (156)
84	EVA	ss5315143809	Oct 17, 2022 (156)
85	EVA	ss5364755554	Oct 17, 2022 (156)
86	HUGCELL_USP	ss5465687377	Oct 17, 2022 (156)
87	EVA	ss5508432757	Oct 17, 2022 (156)
88	1000G_HIGH_COVERAGE	ss5553619624	Oct 17, 2022 (156)
89	SANFORD_IMAGENETICS	ss5640101451	Oct 17, 2022 (156)
90	TOMMO_GENOMICS	ss5714727466	Oct 17, 2022 (156)
91	EVA	ss5800129473	Oct 17, 2022 (156)
92	YY_MCH	ss5807315034	Oct 17, 2022 (156)
93	EVA	ss5842036859	Oct 17, 2022 (156)
94	EVA	ss5848091136	Oct 17, 2022 (156)
95	EVA	ss5848652844	Oct 17, 2022 (156)
96	EVA	ss5855287517	Oct 17, 2022 (156)
97	EVA	ss5883263926	Oct 17, 2022 (156)
98	EVA	ss5968603245	Oct 17, 2022 (156)
99	EVA	ss5981234777	Oct 17, 2022 (156)
100	1000Genomes	NC_000006.11 - 32372863	Oct 12, 2018 (152)
101	1000Genomes_30x	NC_000006.12 - 32405086	Oct 17, 2022 (156)
102	The Avon Longitudinal Study of Parents and Children	NC_000006.11 - 32372863	Oct 12, 2018 (152)
103	Genetic variation in the Estonian population	NC_000006.11 - 32372863	Oct 12, 2018 (152)
104	ExAC	NC_000006.11 - 32372863	Oct 12, 2018 (152)
105	FINRISK	NC_000006.11 - 32372863	Apr 26, 2020 (154)
106	The Danish reference pan genome	NC_000006.11 - 32372863	Apr 26, 2020 (154)
107	gnomAD - Genomes	NC_000006.12 - 32405086	Apr 26, 2021 (155)
108	gnomAD - Exomes	NC_000006.11 - 32372863	Jul 13, 2019 (153)
109	GO Exome Sequencing Project	NC_000006.11 - 32372863	Oct 12, 2018 (152)
110	Genome of the Netherlands Release 5	NC_000006.11 - 32372863	Apr 26, 2020 (154)
111	KOREAN population from KRGDB	NC_000006.11 - 32372863	Apr 26, 2020 (154)
112	Medical Genome Project healthy controls from Spanish population	NC_000006.11 - 32372863	Apr 26, 2020 (154)
113	Northern Sweden	NC_000006.11 - 32372863	Jul 13, 2019 (153)
114	The PAGE Study	NC_000006.12 - 32405086	Jul 13, 2019 (153)
115	CNV burdens in cranial meningiomas	NC_000006.11 - 32372863	Apr 26, 2021 (155)
116	Qatari	NC_000006.11 - 32372863	Apr 26, 2020 (154)
117	SGDP_PRJ	NC_000006.11 - 32372863	Apr 26, 2020 (154)
118	Siberian	NC_000006.11 - 32372863	Apr 26, 2020 (154)
119	8.3KJPN	NC_000006.11 - 32372863	Apr 26, 2021 (155)
120	14KJPN	NC_000006.12 - 32405086	Oct 17, 2022 (156)
121	TopMed	NC_000006.12 - 32405086	Apr 26, 2021 (155)
122	UK 10K study - Twins	NC_000006.11 - 32372863	Oct 12, 2018 (152)
123	A Vietnamese Genetic Variation Database	NC_000006.11 - 32372863	Jul 13, 2019 (153)
124	ALFA	NC_000006.12 - 32405086	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)
rs116102517	May 04, 2012 (137)
rs117649647	Aug 16, 2010 (132)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
6343218562	NC_000006.12:32405085:A:C	NC_000006.12:32405085:A:C	(self)
ss93437784, ss114152257, ss163354932, ss166440903, ss278730319, ss491886313, ss1592317158	NC_000006.10:32480840:A:T	NC_000006.12:32405085:A:T	(self)
31347231, 17479842, 12459407, 8283715, 42161, 7774873, 4832472, 632708, 7771912, 18222609, 238611, 6653236, 115686, 8067602, 16284835, 4330436, 34833051, 17479842, 3877342, ss222307026, ss233401861, ss240472649, ss342208155, ss491383103, ss532968459, ss559117821, ss653040558, ss780847912, ss783531598, ss982773581, ss1067477801, ss1319578875, ss1581609934, ss1584045700, ss1615288929, ss1658282962, ss1688256585, ss1711122851, ss1752630778, ss1804360943, ss1917803404, ss1926025672, ss1946174508, ss1958891487, ss1958891488, ss1970359283, ss2023646643, ss2151814082, ss2626311165, ss2707408130, ss2711070427, ss2735690407, ss2747593564, ss2985363551, ss2998807823, ss3022602438, ss3022602439, ss3629508723, ss3629508724, ss3635059104, ss3640766403, ss3644907566, ss3646335880, ss3653115630, ss3653115631, ss3654129360, ss3666721159, ss3733368371, ss3744551178, ss3745359074, ss3764831044, ss3772852750, ss3824174674, ss3825695517, ss3864267855, ss3911045215, ss3984566281, ss3986034818, ss5176863744, ss5315143809, ss5364755554, ss5508432757, ss5640101451, ss5800129473, ss5842036859, ss5848091136, ss5848652844, ss5968603245, ss5981234777	NC_000006.11:32372862:A:T	NC_000006.12:32405085:A:T	(self)
41145559, 221365439, 502695, 48564570, 535931767, 6343218562, ss2282982933, ss3025610484, ss3716921576, ss3726332468, ss3771281226, ss3807985808, ss4698554209, ss5237022967, ss5237646127, ss5267956150, ss5465687377, ss5553619624, ss5714727466, ss5807315034, ss5855287517, ss5883263926	NC_000006.12:32405085:A:T	NC_000006.12:32405085:A:T	(self)
ss35077901, ss65713152, ss86247715, ss159712210	NT_007592.15:32312862:A:T	NC_000006.12:32405085:A:T	(self)
ss4025190401	NT_113891.3:3843162:A:T	NC_000006.12:32405085:A:T	(self)
ss4025210910	NT_167245.2:3646162:A:T	NC_000006.12:32405085:A:T	(self)

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

1 citation for rs28362682

PMID	Title	Author	Year	Journal
22991420	Genetic characterization and susceptibility for sarcoidosis in Japanese patients: risk factors of BTNL2 gene polymorphisms and HLA class II alleles.	Suzuki H et al.	2012	Investigative ophthalmology & visual science

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
Top▲ Help
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

rs28362682