Name: rs2069556
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.

rs2069556

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr8:132908273 (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
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.408038 (114587/280824, ALFA)
G=0.459485 (121621/264690, TOPMED)
A=0.422366 (106144/251308, GnomAD_exome) (+ 25 more)
G=0.474275 (65891/138930, GnomAD)
A=0.430277 (52190/121294, ExAC)
G=0.36464 (28697/78700, PAGE_STUDY)
G=0.37614 (10629/28258, 14KJPN)
G=0.37882 (6349/16760, 8.3KJPN)
G=0.46163 (6004/13006, GO-ESP)
G=0.3926 (2514/6404, 1000G_30x)
G=0.3988 (1997/5008, 1000G)
A=0.3647 (1634/4480, Estonian)
A=0.3640 (1403/3854, ALSPAC)
A=0.3784 (1403/3708, TWINSUK)
G=0.3669 (1075/2930, KOREAN)
G=0.4702 (980/2084, HGDP_Stanford)
G=0.3684 (675/1832, Korea1K)
G=0.3476 (618/1778, HapMap)
A=0.350 (349/998, GoNL)
G=0.387 (305/788, PRJEB37584)
G=0.287 (176/614, Vietnamese)
A=0.305 (183/600, NorthernSweden)
A=0.455 (243/534, MGP)
A=0.296 (107/362, SGDP_PRJ)
A=0.286 (87/304, FINRISK)
G=0.463 (100/216, Qatari)
G=0.47 (42/90, Ancient Sardinia)
A=0.35 (18/52, Siberian)

Clinical Significance: Reported in ClinVar
Gene : Consequence: TG : Missense Variant
Publications: 3 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	296998	A=0.414286	G=0.585714
European	Sub	238758	A=0.381030	G=0.618970
African	Sub	15184	A=0.83838	G=0.16162
African Others	Sub	522	A=0.946	G=0.054
African American	Sub	14662	A=0.83454	G=0.16546
Asian	Sub	6482	A=0.6356	G=0.3644
East Asian	Sub	4584	A=0.6383	G=0.3617
Other Asian	Sub	1898	A=0.6291	G=0.3709
Latin American 1	Sub	1122	A=0.5250	G=0.4750
Latin American 2	Sub	7896	A=0.3409	G=0.6591
South Asian	Sub	5182	A=0.4072	G=0.5928
Other	Sub	22374	A=0.43922	G=0.56078

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
Allele Frequency Aggregator	Total	Global	280824	A=0.408038	G=0.591962
Allele Frequency Aggregator	European	Sub	228838	A=0.381471	G=0.618529
Allele Frequency Aggregator	Other	Sub	20946	A=0.43884	G=0.56116
Allele Frequency Aggregator	African	Sub	10358	A=0.82921	G=0.17079
Allele Frequency Aggregator	Latin American 2	Sub	7896	A=0.3409	G=0.6591
Allele Frequency Aggregator	Asian	Sub	6482	A=0.6356	G=0.3644
Allele Frequency Aggregator	South Asian	Sub	5182	A=0.4072	G=0.5928
Allele Frequency Aggregator	Latin American 1	Sub	1122	A=0.5250	G=0.4750
TopMed	Global	Study-wide	264690	A=0.540515	G=0.459485
gnomAD - Exomes	Global	Study-wide	251308	A=0.422366	G=0.577634
gnomAD - Exomes	European	Sub	135274	A=0.364298	G=0.635702
gnomAD - Exomes	Asian	Sub	48998	A=0.50308	G=0.49692
gnomAD - Exomes	American	Sub	34574	A=0.32400	G=0.67600
gnomAD - Exomes	African	Sub	16250	A=0.86277	G=0.13723
gnomAD - Exomes	Ashkenazi Jewish	Sub	10076	A=0.45077	G=0.54923
gnomAD - Exomes	Other	Sub	6136	A=0.3993	G=0.6007
gnomAD - Genomes	Global	Study-wide	138930	A=0.525725	G=0.474275
gnomAD - Genomes	European	Sub	75196	A=0.36693	G=0.63307
gnomAD - Genomes	African	Sub	41758	A=0.84599	G=0.15401
gnomAD - Genomes	American	Sub	13448	A=0.41307	G=0.58693
gnomAD - Genomes	Ashkenazi Jewish	Sub	3294	A=0.4496	G=0.5504
gnomAD - Genomes	East Asian	Sub	3106	A=0.6381	G=0.3619
gnomAD - Genomes	Other	Sub	2128	A=0.5179	G=0.4821
ExAC	Global	Study-wide	121294	A=0.430277	G=0.569723
ExAC	Europe	Sub	73312	A=0.36738	G=0.63262
ExAC	Asian	Sub	25128	A=0.49662	G=0.50338
ExAC	American	Sub	11558	A=0.30109	G=0.69891
ExAC	African	Sub	10388	A=0.85955	G=0.14045
ExAC	Other	Sub	908	A=0.406	G=0.594
The PAGE Study	Global	Study-wide	78700	A=0.63536	G=0.36464
The PAGE Study	AfricanAmerican	Sub	32516	A=0.83257	G=0.16743
The PAGE Study	Mexican	Sub	10808	A=0.34650	G=0.65350
The PAGE Study	Asian	Sub	8318	A=0.6564	G=0.3436
The PAGE Study	PuertoRican	Sub	7918	A=0.5133	G=0.4867
The PAGE Study	NativeHawaiian	Sub	4534	A=0.5251	G=0.4749
The PAGE Study	Cuban	Sub	4230	A=0.4887	G=0.5113
The PAGE Study	Dominican	Sub	3828	A=0.6455	G=0.3545
The PAGE Study	CentralAmerican	Sub	2450	A=0.4106	G=0.5894
The PAGE Study	SouthAmerican	Sub	1982	A=0.4168	G=0.5832
The PAGE Study	NativeAmerican	Sub	1260	A=0.4198	G=0.5802
The PAGE Study	SouthAsian	Sub	856	A=0.446	G=0.554
14KJPN	JAPANESE	Study-wide	28258	A=0.62386	G=0.37614
8.3KJPN	JAPANESE	Study-wide	16760	A=0.62118	G=0.37882
GO Exome Sequencing Project	Global	Study-wide	13006	A=0.53837	G=0.46163
GO Exome Sequencing Project	European American	Sub	8600	A=0.3849	G=0.6151
GO Exome Sequencing Project	African American	Sub	4406	A=0.8379	G=0.1621
1000Genomes_30x	Global	Study-wide	6404	A=0.6074	G=0.3926
1000Genomes_30x	African	Sub	1786	A=0.9351	G=0.0649
1000Genomes_30x	Europe	Sub	1266	A=0.3997	G=0.6003
1000Genomes_30x	South Asian	Sub	1202	A=0.4659	G=0.5341
1000Genomes_30x	East Asian	Sub	1170	A=0.6427	G=0.3573
1000Genomes_30x	American	Sub	980	A=0.410	G=0.590
1000Genomes	Global	Study-wide	5008	A=0.6012	G=0.3988
1000Genomes	African	Sub	1322	A=0.9266	G=0.0734
1000Genomes	East Asian	Sub	1008	A=0.6429	G=0.3571
1000Genomes	Europe	Sub	1006	A=0.3907	G=0.6093
1000Genomes	South Asian	Sub	978	A=0.466	G=0.534
1000Genomes	American	Sub	694	A=0.416	G=0.584
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.3647	G=0.6353
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.3640	G=0.6360
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.3784	G=0.6216
KOREAN population from KRGDB	KOREAN	Study-wide	2930	A=0.6331	G=0.3669
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	A=0.5298	G=0.4702
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	A=0.649	G=0.351
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	A=0.435	G=0.565
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	A=0.466	G=0.534
HGDP-CEPH-db Supplement 1	Europe	Sub	320	A=0.428	G=0.572
HGDP-CEPH-db Supplement 1	Africa	Sub	242	A=0.938	G=0.062
HGDP-CEPH-db Supplement 1	America	Sub	216	A=0.139	G=0.861
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	A=0.86	G=0.14
Korean Genome Project	KOREAN	Study-wide	1832	A=0.6316	G=0.3684
HapMap	Global	Study-wide	1778	A=0.6524	G=0.3476
HapMap	African	Sub	680	A=0.915	G=0.085
HapMap	American	Sub	668	A=0.463	G=0.537
HapMap	Asian	Sub	254	A=0.626	G=0.374
HapMap	Europe	Sub	176	A=0.398	G=0.602
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.350	G=0.650
CNV burdens in cranial meningiomas	Global	Study-wide	788	A=0.613	G=0.387
CNV burdens in cranial meningiomas	CRM	Sub	788	A=0.613	G=0.387
A Vietnamese Genetic Variation Database	Global	Study-wide	614	A=0.713	G=0.287
Northern Sweden	ACPOP	Study-wide	600	A=0.305	G=0.695
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	A=0.455	G=0.545
SGDP_PRJ	Global	Study-wide	362	A=0.296	G=0.704
FINRISK	Finnish from FINRISK project	Study-wide	304	A=0.286	G=0.714
Qatari	Global	Study-wide	216	A=0.537	G=0.463
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	90	A=0.53	G=0.47
Siberian	Global	Study-wide	52	A=0.35	G=0.65

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.132908273A>G
GRCh37.p13 chr 8	NC_000008.10:g.133920518A>G
TG RefSeqGene	NG_015832.2:g.46317A>G
TG RefSeqGene	NG_015832.1:g.46314A>G

Gene: TG, thyroglobulin (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
TG transcript	NM_003235.5:c.3935A>G	D [GAT] > G [GGT]	Coding Sequence Variant
thyroglobulin precursor	NP_003226.4:p.Asp1312Gly	D (Asp) > G (Gly)	Missense Variant
TG transcript variant X1	XM_006716622.4:c.3935A>G	D [GAT] > G [GGT]	Coding Sequence Variant
thyroglobulin isoform X1	XP_006716685.1:p.Asp1312G… XP_006716685.1:p.Asp1312Gly	D (Asp) > G (Gly)	Missense Variant
TG transcript variant X2	XM_017013793.2:c.3935A>G	D [GAT] > G [GGT]	Coding Sequence Variant
thyroglobulin isoform X2	XP_016869282.1:p.Asp1312G… XP_016869282.1:p.Asp1312Gly	D (Asp) > G (Gly)	Missense Variant
TG transcript variant X3	XM_017013794.2:c.3935A>G	D [GAT] > G [GGT]	Coding Sequence Variant
thyroglobulin isoform X3	XP_016869283.1:p.Asp1312G… XP_016869283.1:p.Asp1312Gly	D (Asp) > G (Gly)	Missense Variant
TG transcript variant X4	XM_017013795.2:c.3935A>G	D [GAT] > G [GGT]	Coding Sequence Variant
thyroglobulin isoform X4	XP_016869284.1:p.Asp1312G… XP_016869284.1:p.Asp1312Gly	D (Asp) > G (Gly)	Missense Variant
TG transcript variant X5	XM_005251038.5:c.3935A>G	D [GAT] > G [GGT]	Coding Sequence Variant
thyroglobulin isoform X5	XP_005251095.1:p.Asp1312G… XP_005251095.1:p.Asp1312Gly	D (Asp) > G (Gly)	Missense Variant
TG transcript variant X6	XM_017013796.2:c.3935A>G	D [GAT] > G [GGT]	Coding Sequence Variant
thyroglobulin isoform X6	XP_016869285.1:p.Asp1312G… XP_016869285.1:p.Asp1312Gly	D (Asp) > G (Gly)	Missense Variant
TG transcript variant X7	XM_047422166.1:c.3674A>G	D [GAT] > G [GGT]	Coding Sequence Variant
thyroglobulin isoform X7	XP_047278122.1:p.Asp1225G… XP_047278122.1:p.Asp1225Gly	D (Asp) > G (Gly)	Missense Variant
TG transcript variant X8	XM_017013798.2:c.3935A>G	D [GAT] > G [GGT]	Coding Sequence Variant
thyroglobulin isoform X8	XP_016869287.1:p.Asp1312G… XP_016869287.1:p.Asp1312Gly	D (Asp) > G (Gly)	Missense Variant
TG transcript variant X9	XM_005251040.5:c.3935A>G	D [GAT] > G [GGT]	Coding Sequence Variant
thyroglobulin isoform X9	XP_005251097.1:p.Asp1312G… XP_005251097.1:p.Asp1312Gly	D (Asp) > G (Gly)	Missense Variant
TG transcript variant X10	XM_017013799.2:c.3935A>G	D [GAT] > G [GGT]	Coding Sequence Variant
thyroglobulin isoform X10	XP_016869288.1:p.Asp1312G… XP_016869288.1:p.Asp1312Gly	D (Asp) > G (Gly)	Missense Variant
TG transcript variant X11	XM_005251042.5:c.3935A>G	D [GAT] > G [GGT]	Coding Sequence Variant
thyroglobulin isoform X11	XP_005251099.1:p.Asp1312G… XP_005251099.1:p.Asp1312Gly	D (Asp) > G (Gly)	Missense Variant
TG transcript variant X12	XM_017013800.2:c.3935A>G	D [GAT] > G [GGT]	Coding Sequence Variant
thyroglobulin isoform X12	XP_016869289.1:p.Asp1312G… XP_016869289.1:p.Asp1312Gly	D (Asp) > G (Gly)	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.

Allele: G (allele ID: 253050 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000241944.5	not specified	Benign
RCV000280505.6	Iodotyrosyl coupling defect	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
GRCh38.p14 chr 8	NC_000008.11:g.132908273=	NC_000008.11:g.132908273A>G
GRCh37.p13 chr 8	NC_000008.10:g.133920518=	NC_000008.10:g.133920518A>G
TG RefSeqGene	NG_015832.2:g.46317=	NG_015832.2:g.46317A>G
TG RefSeqGene	NG_015832.1:g.46314=	NG_015832.1:g.46314A>G
TG transcript	NM_003235.5:c.3935=	NM_003235.5:c.3935A>G
TG transcript	NM_003235.4:c.3935=	NM_003235.4:c.3935A>G
TG transcript variant X5	XM_005251038.5:c.3935=	XM_005251038.5:c.3935A>G
TG transcript variant X5	XM_005251038.4:c.3935=	XM_005251038.4:c.3935A>G
TG transcript variant X2	XM_005251038.3:c.3935=	XM_005251038.3:c.3935A>G
TG transcript variant X4	XM_005251038.2:c.3935=	XM_005251038.2:c.3935A>G
TG transcript variant X4	XM_005251038.1:c.3935=	XM_005251038.1:c.3935A>G
TG transcript variant X9	XM_005251040.5:c.3935=	XM_005251040.5:c.3935A>G
TG transcript variant X9	XM_005251040.4:c.3935=	XM_005251040.4:c.3935A>G
TG transcript variant X3	XM_005251040.3:c.3935=	XM_005251040.3:c.3935A>G
TG transcript variant X6	XM_005251040.2:c.3935=	XM_005251040.2:c.3935A>G
TG transcript variant X6	XM_005251040.1:c.3935=	XM_005251040.1:c.3935A>G
TG transcript variant X11	XM_005251042.5:c.3935=	XM_005251042.5:c.3935A>G
TG transcript variant X11	XM_005251042.4:c.3935=	XM_005251042.4:c.3935A>G
TG transcript variant X4	XM_005251042.3:c.3935=	XM_005251042.3:c.3935A>G
TG transcript variant X8	XM_005251042.2:c.3935=	XM_005251042.2:c.3935A>G
TG transcript variant X8	XM_005251042.1:c.3935=	XM_005251042.1:c.3935A>G
TG transcript variant X1	XM_006716622.4:c.3935=	XM_006716622.4:c.3935A>G
TG transcript variant X1	XM_006716622.3:c.3935=	XM_006716622.3:c.3935A>G
TG transcript variant X1	XM_006716622.2:c.3935=	XM_006716622.2:c.3935A>G
TG transcript variant X10	XM_006716622.1:c.3935=	XM_006716622.1:c.3935A>G
TG transcript variant X2	XM_017013793.2:c.3935=	XM_017013793.2:c.3935A>G
TG transcript variant X2	XM_017013793.1:c.3935=	XM_017013793.1:c.3935A>G
TG transcript variant X3	XM_017013794.2:c.3935=	XM_017013794.2:c.3935A>G
TG transcript variant X3	XM_017013794.1:c.3935=	XM_017013794.1:c.3935A>G
TG transcript variant X4	XM_017013795.2:c.3935=	XM_017013795.2:c.3935A>G
TG transcript variant X4	XM_017013795.1:c.3935=	XM_017013795.1:c.3935A>G
TG transcript variant X6	XM_017013796.2:c.3935=	XM_017013796.2:c.3935A>G
TG transcript variant X6	XM_017013796.1:c.3935=	XM_017013796.1:c.3935A>G
TG transcript variant X8	XM_017013798.2:c.3935=	XM_017013798.2:c.3935A>G
TG transcript variant X8	XM_017013798.1:c.3935=	XM_017013798.1:c.3935A>G
TG transcript variant X12	XM_017013800.2:c.3935=	XM_017013800.2:c.3935A>G
TG transcript variant X12	XM_017013800.1:c.3935=	XM_017013800.1:c.3935A>G
TG transcript variant X10	XM_017013799.2:c.3935=	XM_017013799.2:c.3935A>G
TG transcript variant X10	XM_017013799.1:c.3935=	XM_017013799.1:c.3935A>G
TG transcript variant X7	XM_047422166.1:c.3674=	XM_047422166.1:c.3674A>G
thyroglobulin precursor	NP_003226.4:p.Asp1312=	NP_003226.4:p.Asp1312Gly
thyroglobulin isoform X5	XP_005251095.1:p.Asp1312=	XP_005251095.1:p.Asp1312Gly
thyroglobulin isoform X9	XP_005251097.1:p.Asp1312=	XP_005251097.1:p.Asp1312Gly
thyroglobulin isoform X11	XP_005251099.1:p.Asp1312=	XP_005251099.1:p.Asp1312Gly
thyroglobulin isoform X1	XP_006716685.1:p.Asp1312=	XP_006716685.1:p.Asp1312Gly
thyroglobulin isoform X2	XP_016869282.1:p.Asp1312=	XP_016869282.1:p.Asp1312Gly
thyroglobulin isoform X3	XP_016869283.1:p.Asp1312=	XP_016869283.1:p.Asp1312Gly
thyroglobulin isoform X4	XP_016869284.1:p.Asp1312=	XP_016869284.1:p.Asp1312Gly
thyroglobulin isoform X6	XP_016869285.1:p.Asp1312=	XP_016869285.1:p.Asp1312Gly
thyroglobulin isoform X8	XP_016869287.1:p.Asp1312=	XP_016869287.1:p.Asp1312Gly
thyroglobulin isoform X12	XP_016869289.1:p.Asp1312=	XP_016869289.1:p.Asp1312Gly
thyroglobulin isoform X10	XP_016869288.1:p.Asp1312=	XP_016869288.1:p.Asp1312Gly
thyroglobulin isoform X7	XP_047278122.1:p.Asp1225=	XP_047278122.1:p.Asp1225Gly

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#.

170 SubSNP, 28 Frequency, 2 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	A-HISHI	ss2981633	Jun 15, 2001 (96)
2	YUSUKE	ss3237265	Sep 28, 2001 (100)
3	MSSMAITD	ss16199669	Feb 27, 2004 (120)
4	SSAHASNP	ss22727599	Apr 05, 2004 (123)
5	PERLEGEN	ss24479658	Sep 20, 2004 (123)
6	ILLUMINA	ss66610966	Nov 30, 2006 (127)
7	ILLUMINA	ss67221822	Nov 30, 2006 (127)
8	ILLUMINA	ss67616232	Nov 30, 2006 (127)
9	CSHL-HAPMAP	ss68384551	Jan 12, 2007 (127)
10	PERLEGEN	ss69063520	May 17, 2007 (127)
11	ILLUMINA	ss70700112	May 25, 2008 (130)
12	ILLUMINA	ss71266126	May 17, 2007 (127)
13	AFFY	ss74812197	Aug 16, 2007 (128)
14	ILLUMINA	ss75471891	Dec 06, 2007 (129)
15	AFFY	ss76423885	Dec 06, 2007 (129)
16	ILLUMINA	ss79112127	Dec 15, 2007 (130)
17	KRIBB_YJKIM	ss83963821	Dec 15, 2007 (129)
18	HUMANGENOME_JCVI	ss97904959	Feb 06, 2009 (130)
19	BGI	ss104578281	Dec 01, 2009 (137)
20	1000GENOMES	ss108422632	Feb 13, 2009 (137)
21	ILLUMINA	ss121907504	Dec 01, 2009 (137)
22	ILLUMINA	ss153842610	Dec 01, 2009 (137)
23	GMI	ss156931002	Dec 01, 2009 (137)
24	ILLUMINA	ss159355657	Dec 01, 2009 (137)
25	SEATTLESEQ	ss159717458	Dec 01, 2009 (137)
26	ILLUMINA	ss161103131	Dec 01, 2009 (137)
27	COMPLETE_GENOMICS	ss162825559	Jul 04, 2010 (137)
28	ILLUMINA	ss170995662	Jul 04, 2010 (137)
29	ILLUMINA	ss173093989	Jul 04, 2010 (137)
30	BUSHMAN	ss199823990	Jul 04, 2010 (137)
31	BCM-HGSC-SUB	ss206569833	Jul 04, 2010 (137)
32	1000GENOMES	ss217321770	Jul 14, 2010 (137)
33	1000GENOMES	ss217398067	Jul 14, 2010 (137)
34	1000GENOMES	ss217399573	Jul 14, 2010 (137)
35	1000GENOMES	ss217407813	Jul 14, 2010 (137)
36	1000GENOMES	ss217418820	Jul 14, 2010 (137)
37	1000GENOMES	ss217419852	Jul 14, 2010 (137)
38	1000GENOMES	ss217423154	Jul 14, 2010 (137)
39	1000GENOMES	ss224002672	Jul 14, 2010 (137)
40	1000GENOMES	ss234644660	Jul 15, 2010 (137)
41	1000GENOMES	ss241455084	Jul 15, 2010 (137)
42	BL	ss254680834	May 09, 2011 (137)
43	GMI	ss280021686	May 04, 2012 (137)
44	GMI	ss285932379	Apr 25, 2013 (138)
45	NHLBI-ESP	ss342264879	May 09, 2011 (137)
46	ILLUMINA	ss479163179	Sep 08, 2015 (146)
47	ILLUMINA	ss479295230	May 04, 2012 (137)
48	ILLUMINA	ss485550188	May 04, 2012 (137)
49	1000GENOMES	ss490971054	May 04, 2012 (137)
50	EXOME_CHIP	ss491417398	May 04, 2012 (137)
51	CLINSEQ_SNP	ss491929632	May 04, 2012 (137)
52	ILLUMINA	ss537033550	Sep 08, 2015 (146)
53	TISHKOFF	ss561096784	Apr 25, 2013 (138)
54	SSMP	ss655531125	Apr 25, 2013 (138)
55	ILLUMINA	ss779475478	Sep 08, 2015 (146)
56	ILLUMINA	ss780873083	Sep 08, 2015 (146)
57	ILLUMINA	ss780945902	Sep 08, 2015 (146)
58	ILLUMINA	ss783558242	Sep 08, 2015 (146)
59	ILLUMINA	ss825442645	Apr 01, 2015 (144)
60	ILLUMINA	ss832867566	Jul 13, 2019 (153)
61	ILLUMINA	ss834945430	Sep 08, 2015 (146)
62	EVA-GONL	ss986100631	Aug 21, 2014 (142)
63	JMKIDD_LAB	ss1067500178	Aug 21, 2014 (142)
64	JMKIDD_LAB	ss1075949413	Aug 21, 2014 (142)
65	1000GENOMES	ss1332076649	Aug 21, 2014 (142)
66	DDI	ss1431683988	Apr 01, 2015 (144)
67	BGI	ss1558292602	Apr 01, 2015 (144)
68	EVA_FINRISK	ss1584060141	Apr 01, 2015 (144)
69	EVA_UK10K_ALSPAC	ss1621821806	Apr 01, 2015 (144)
70	EVA_UK10K_TWINSUK	ss1664815839	Apr 01, 2015 (144)
71	EVA_EXAC	ss1689323217	Apr 01, 2015 (144)
72	EVA_MGP	ss1711210672	Apr 01, 2015 (144)
73	EVA_SVP	ss1713074269	Apr 01, 2015 (144)
74	ILLUMINA	ss1752714245	Sep 08, 2015 (146)
75	ILLUMINA	ss1917832130	Feb 12, 2016 (147)
76	WEILL_CORNELL_DGM	ss1929374399	Feb 12, 2016 (147)
77	ILLUMINA	ss1946247706	Feb 12, 2016 (147)
78	ILLUMINA	ss1959146163	Feb 12, 2016 (147)
79	ILLUMINA	ss1959146165	Feb 12, 2016 (147)
80	GENOMED	ss1971102970	Jul 19, 2016 (147)
81	JJLAB	ss2025390446	Sep 14, 2016 (149)
82	USC_VALOUEV	ss2153620042	Dec 20, 2016 (150)
83	HUMAN_LONGEVITY	ss2307717833	Dec 20, 2016 (150)
84	SYSTEMSBIOZJU	ss2627170186	Nov 08, 2017 (151)
85	ILLUMINA	ss2634809141	Nov 08, 2017 (151)
86	GRF	ss2709409005	Nov 08, 2017 (151)
87	GNOMAD	ss2737356921	Nov 08, 2017 (151)
88	GNOMAD	ss2748107387	Nov 08, 2017 (151)
89	GNOMAD	ss2873154466	Nov 08, 2017 (151)
90	AFFY	ss2985449639	Nov 08, 2017 (151)
91	SWEGEN	ss3004063441	Nov 08, 2017 (151)
92	ILLUMINA	ss3022886967	Nov 08, 2017 (151)
93	ILLUMINA	ss3022886968	Nov 08, 2017 (151)
94	EVA_SAMSUNG_MC	ss3023064167	Nov 08, 2017 (151)
95	BIOINF_KMB_FNS_UNIBA	ss3026481632	Nov 08, 2017 (151)
96	CSHL	ss3348424500	Nov 08, 2017 (151)
97	ILLUMINA	ss3630167741	Oct 12, 2018 (152)
98	ILLUMINA	ss3630167742	Oct 12, 2018 (152)
99	ILLUMINA	ss3632705051	Oct 12, 2018 (152)
100	ILLUMINA	ss3635192352	Oct 12, 2018 (152)
101	ILLUMINA	ss3636935579	Oct 12, 2018 (152)
102	ILLUMINA	ss3638788458	Oct 12, 2018 (152)
103	ILLUMINA	ss3639397344	Oct 12, 2018 (152)
104	ILLUMINA	ss3639729950	Oct 12, 2018 (152)
105	ILLUMINA	ss3640899643	Oct 12, 2018 (152)
106	ILLUMINA	ss3643717389	Oct 12, 2018 (152)
107	ILLUMINA	ss3644980977	Oct 12, 2018 (152)
108	OMUKHERJEE_ADBS	ss3646381850	Oct 12, 2018 (152)
109	URBANLAB	ss3649024910	Oct 12, 2018 (152)
110	ILLUMINA	ss3653434466	Oct 12, 2018 (152)
111	ILLUMINA	ss3653434467	Oct 12, 2018 (152)
112	ILLUMINA	ss3654213235	Oct 12, 2018 (152)
113	EGCUT_WGS	ss3671790030	Jul 13, 2019 (153)
114	EVA_DECODE	ss3723085559	Jul 13, 2019 (153)
115	ILLUMINA	ss3726575518	Jul 13, 2019 (153)
116	ACPOP	ss3736136593	Jul 13, 2019 (153)
117	ILLUMINA	ss3744583897	Jul 13, 2019 (153)
118	ILLUMINA	ss3745492339	Jul 13, 2019 (153)
119	EVA	ss3768659819	Jul 13, 2019 (153)
120	PAGE_CC	ss3771471862	Jul 13, 2019 (153)
121	ILLUMINA	ss3772984523	Jul 13, 2019 (153)
122	PACBIO	ss3786291355	Jul 13, 2019 (153)
123	PACBIO	ss3791523057	Jul 13, 2019 (153)
124	PACBIO	ss3796404640	Jul 13, 2019 (153)
125	KHV_HUMAN_GENOMES	ss3811824532	Jul 13, 2019 (153)
126	EVA	ss3824395830	Apr 26, 2020 (154)
127	EVA	ss3825525321	Apr 26, 2020 (154)
128	EVA	ss3825540992	Apr 26, 2020 (154)
129	EVA	ss3825747260	Apr 26, 2020 (154)
130	EVA	ss3831435004	Apr 26, 2020 (154)
131	EVA	ss3839227228	Apr 26, 2020 (154)
132	EVA	ss3844687943	Apr 26, 2020 (154)
133	HGDP	ss3847931553	Apr 26, 2020 (154)
134	SGDP_PRJ	ss3871080344	Apr 26, 2020 (154)
135	KRGDB	ss3918687995	Apr 26, 2020 (154)
136	KOGIC	ss3964914920	Apr 26, 2020 (154)
137	FSA-LAB	ss3984407536	Apr 26, 2021 (155)
138	FSA-LAB	ss3984407537	Apr 26, 2021 (155)
139	EVA	ss3984612768	Apr 26, 2021 (155)
140	EVA	ss3985392041	Apr 26, 2021 (155)
141	EVA	ss3986044823	Apr 26, 2021 (155)
142	EVA	ss3986434007	Apr 26, 2021 (155)
143	EVA	ss4017416150	Apr 26, 2021 (155)
144	TOPMED	ss4805618821	Apr 26, 2021 (155)
145	TOMMO_GENOMICS	ss5191177936	Apr 26, 2021 (155)
146	EVA	ss5237044986	Apr 26, 2021 (155)
147	EVA	ss5237451038	Apr 26, 2021 (155)
148	EVA	ss5237652019	Oct 16, 2022 (156)
149	1000G_HIGH_COVERAGE	ss5279083814	Oct 16, 2022 (156)
150	TRAN_CS_UWATERLOO	ss5314423999	Oct 16, 2022 (156)
151	EVA	ss5315367145	Oct 16, 2022 (156)
152	EVA	ss5384721046	Oct 16, 2022 (156)
153	HUGCELL_USP	ss5475450804	Oct 16, 2022 (156)
154	1000G_HIGH_COVERAGE	ss5570486500	Oct 16, 2022 (156)
155	EVA	ss5624180536	Oct 16, 2022 (156)
156	SANFORD_IMAGENETICS	ss5624707447	Oct 16, 2022 (156)
157	SANFORD_IMAGENETICS	ss5646496262	Oct 16, 2022 (156)
158	TOMMO_GENOMICS	ss5733952554	Oct 16, 2022 (156)
159	EVA	ss5799436287	Oct 16, 2022 (156)
160	EVA	ss5800059704	Oct 16, 2022 (156)
161	YY_MCH	ss5810168632	Oct 16, 2022 (156)
162	EVA	ss5831279234	Oct 16, 2022 (156)
163	EVA	ss5847347976	Oct 16, 2022 (156)
164	EVA	ss5848191448	Oct 16, 2022 (156)
165	EVA	ss5848713610	Oct 16, 2022 (156)
166	EVA	ss5891194548	Oct 16, 2022 (156)
167	EVA	ss5936539763	Oct 16, 2022 (156)
168	EVA	ss5975754662	Oct 16, 2022 (156)
169	EVA	ss5979879170	Oct 16, 2022 (156)
170	EVA	ss5980529432	Oct 16, 2022 (156)
171	1000Genomes	NC_000008.10 - 133920518	Oct 12, 2018 (152)
172	1000Genomes_30x	NC_000008.11 - 132908273	Oct 16, 2022 (156)
173	The Avon Longitudinal Study of Parents and Children	NC_000008.10 - 133920518	Oct 12, 2018 (152)
174	Genetic variation in the Estonian population	NC_000008.10 - 133920518	Oct 12, 2018 (152)
175	ExAC	NC_000008.10 - 133920518	Oct 12, 2018 (152)
176	FINRISK	NC_000008.10 - 133920518	Apr 26, 2020 (154)
177	gnomAD - Genomes	NC_000008.11 - 132908273	Apr 26, 2021 (155)
178	gnomAD - Exomes	NC_000008.10 - 133920518	Jul 13, 2019 (153)
179	GO Exome Sequencing Project	NC_000008.10 - 133920518	Oct 12, 2018 (152)
180	Genome of the Netherlands Release 5	NC_000008.10 - 133920518	Apr 26, 2020 (154)
181	HGDP-CEPH-db Supplement 1	NC_000008.9 - 133989700	Apr 26, 2020 (154)
182	HapMap	NC_000008.11 - 132908273	Apr 26, 2020 (154)
183	KOREAN population from KRGDB	NC_000008.10 - 133920518	Apr 26, 2020 (154)
184	Korean Genome Project	NC_000008.11 - 132908273	Apr 26, 2020 (154)
185	Medical Genome Project healthy controls from Spanish population	NC_000008.10 - 133920518	Apr 26, 2020 (154)
186	Northern Sweden	NC_000008.10 - 133920518	Jul 13, 2019 (153)
187	The PAGE Study	NC_000008.11 - 132908273	Jul 13, 2019 (153)
188	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000008.10 - 133920518	Apr 26, 2021 (155)
189	CNV burdens in cranial meningiomas	NC_000008.10 - 133920518	Apr 26, 2021 (155)
190	Qatari	NC_000008.10 - 133920518	Apr 26, 2020 (154)
191	SGDP_PRJ	NC_000008.10 - 133920518	Apr 26, 2020 (154)
192	Siberian	NC_000008.10 - 133920518	Apr 26, 2020 (154)
193	8.3KJPN	NC_000008.10 - 133920518	Apr 26, 2021 (155)
194	14KJPN	NC_000008.11 - 132908273	Oct 16, 2022 (156)
195	TopMed	NC_000008.11 - 132908273	Apr 26, 2021 (155)
196	UK 10K study - Twins	NC_000008.10 - 133920518	Oct 12, 2018 (152)
197	A Vietnamese Genetic Variation Database	NC_000008.10 - 133920518	Jul 13, 2019 (153)
198	ALFA	NC_000008.11 - 132908273	Apr 26, 2021 (155)
199	ClinVar	RCV000241944.5	Oct 16, 2022 (156)
200	ClinVar	RCV000280505.6	Oct 16, 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)
rs13268183	Oct 08, 2004 (123)
rs17684997	Oct 08, 2004 (123)
rs34148413	May 23, 2006 (127)
rs52793422	Sep 21, 2007 (128)
rs60073338	May 25, 2008 (130)
rs75865560	Jan 15, 2013 (137)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
609445, ss108422632, ss162825559, ss199823990, ss206569833, ss217321770, ss217398067, ss217399573, ss217407813, ss217418820, ss217419852, ss217423154, ss254680834, ss280021686, ss285932379, ss485550188, ss491929632, ss825442645, ss1558292602, ss1713074269, ss3639397344, ss3639729950, ss3643717389, ss3847931553	NC_000008.9:133989699:A:G	NC_000008.11:132908272:A:G	(self)
44281419, 24644328, 17528278, 9434538, 56602, 6532617, 853659, 10995493, 25865389, 326432, 9421458, 617968, 162207, 11416329, 23097324, 6136396, 49147243, 24644328, 5473427, ss224002672, ss234644660, ss241455084, ss342264879, ss479163179, ss479295230, ss490971054, ss491417398, ss537033550, ss561096784, ss655531125, ss779475478, ss780873083, ss780945902, ss783558242, ss832867566, ss834945430, ss986100631, ss1067500178, ss1075949413, ss1332076649, ss1431683988, ss1584060141, ss1621821806, ss1664815839, ss1689323217, ss1711210672, ss1752714245, ss1917832130, ss1929374399, ss1946247706, ss1959146163, ss1959146165, ss1971102970, ss2025390446, ss2153620042, ss2627170186, ss2634809141, ss2709409005, ss2737356921, ss2748107387, ss2873154466, ss2985449639, ss3004063441, ss3022886967, ss3022886968, ss3023064167, ss3348424500, ss3630167741, ss3630167742, ss3632705051, ss3635192352, ss3636935579, ss3638788458, ss3640899643, ss3644980977, ss3646381850, ss3653434466, ss3653434467, ss3654213235, ss3671790030, ss3736136593, ss3744583897, ss3745492339, ss3768659819, ss3772984523, ss3786291355, ss3791523057, ss3796404640, ss3824395830, ss3825525321, ss3825540992, ss3825747260, ss3831435004, ss3839227228, ss3871080344, ss3918687995, ss3984407536, ss3984407537, ss3984612768, ss3985392041, ss3986044823, ss3986434007, ss4017416150, ss5191177936, ss5237451038, ss5315367145, ss5384721046, ss5624180536, ss5624707447, ss5646496262, ss5799436287, ss5800059704, ss5831279234, ss5847347976, ss5848191448, ss5848713610, ss5936539763, ss5975754662, ss5979879170, ss5980529432	NC_000008.10:133920517:A:G	NC_000008.11:132908272:A:G	(self)
RCV000241944.5, RCV000280505.6, 58012435, 312323658, 3733446, 21292921, 693331, 67789658, 642996381, 9486019231, ss2307717833, ss3026481632, ss3649024910, ss3723085559, ss3726575518, ss3771471862, ss3811824532, ss3844687943, ss3964914920, ss4805618821, ss5237044986, ss5237652019, ss5279083814, ss5314423999, ss5475450804, ss5570486500, ss5733952554, ss5810168632, ss5891194548	NC_000008.11:132908272:A:G	NC_000008.11:132908272:A:G	(self)
ss22727599	NT_008046.14:47138696:A:G	NC_000008.11:132908272:A:G	(self)
ss2981633, ss3237265, ss16199669, ss24479658, ss66610966, ss67221822, ss67616232, ss68384551, ss69063520, ss70700112, ss71266126, ss74812197, ss75471891, ss76423885, ss79112127, ss83963821, ss97904959, ss104578281, ss121907504, ss153842610, ss156931002, ss159355657, ss159717458, ss161103131, ss170995662, ss173093989	NT_008046.16:47194066:A:G	NC_000008.11:132908272:A:G	(self)

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

3 citations for rs2069556

PMID	Title	Author	Year	Journal
22662162	Multiple SNPs in intron 41 of thyroglobulin gene are associated with autoimmune thyroid disease in the Japanese population.	Ban Y et al.	2012	PloS one
25741868	Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.	Richards S et al.	2015	Genetics in medicine
28345837	Association of the Asp1312Gly Thyroglobulin Gene Polymorphism with Susceptibility to Differentiated Thyroid Cancer in an Iranian Population.	Abidi M et al.	2017	Asian Pacific journal of cancer prevention

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

rs2069556