Name: rs61449721
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.

rs61449721

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr6:57955178-57955199 (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: del(T)₁₁ / del(T)₁₀ / del(T)₉ / de…
del(T)₁₁ / del(T)₁₀ / del(T)₉ / del(T)₈ / del(T)₇ / del(T)₆ / del(T)₅ / del(T)₄ / delTTT / delTT / delT / dupT / dupTT / dup(T)₄
Variation Type: Indel Insertion and Deletion
Frequency: delTT=0.4692 (2588/5516, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: LINC00680 : Intron Variant
LINC00680-GUSBP4 : Intron 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: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele	Ref HMOZ	Alt HMOZ	HTRZ	HWEP
Total	Global	5516	TTTTTTTTTTTTTTTTTTTTTT=0.5092	TTTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0087, TTTTTTTTTTTTTTTTTTTT=0.4692, TTTTTTTTTTTTTTTTTTTTT=0.0109, TTTTTTTTTTTTTTTTTTTTTTT=0.0020, TTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000	0.340883	0.296716	0.362401	32
European	Sub	5112	TTTTTTTTTTTTTTTTTTTTTT=0.4712	TTTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0094, TTTTTTTTTTTTTTTTTTTT=0.5055, TTTTTTTTTTTTTTTTTTTTT=0.0117, TTTTTTTTTTTTTTTTTTTTTTT=0.0022, TTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000	0.287699	0.320801	0.3915	32
African	Sub	298	TTTTTTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
African Others	Sub	4	TTTTTTTTTTTTTTTTTTTTTT=1.0	TTTTTTTTTTT=0.0, TTTTTTTTTTTT=0.0, TTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
African American	Sub	294	TTTTTTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
Asian	Sub	16	TTTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	14	TTTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	2	TTTTTTTTTTTTTTTTTTTTTT=1.0	TTTTTTTTTTT=0.0, TTTTTTTTTTTT=0.0, TTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
Latin American 1	Sub	12	TTTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	12	TTTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
South Asian	Sub	12	TTTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other	Sub	54	TTTTTTTTTTTTTTTTTTTTTT=0.93	TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.07, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	0.888889	0.037037	0.074074	4

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	5516	(T)₂₂=0.5092	del(T)₁₁=0.0000, del(T)₁₀=0.0000, del(T)₉=0.0000, del(T)₇=0.0000, del(T)₆=0.0000, del(T)₄=0.0000, delTTT=0.0087, delTT=0.4692, delT=0.0109, dupT=0.0020, dupTT=0.0000, dup(T)₄=0.0000
Allele Frequency Aggregator	European	Sub	5112	(T)₂₂=0.4712	del(T)₁₁=0.0000, del(T)₁₀=0.0000, del(T)₉=0.0000, del(T)₇=0.0000, del(T)₆=0.0000, del(T)₄=0.0000, delTTT=0.0094, delTT=0.5055, delT=0.0117, dupT=0.0022, dupTT=0.0000, dup(T)₄=0.0000
Allele Frequency Aggregator	African	Sub	298	(T)₂₂=1.000	del(T)₁₁=0.000, del(T)₁₀=0.000, del(T)₉=0.000, del(T)₇=0.000, del(T)₆=0.000, del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dup(T)₄=0.000
Allele Frequency Aggregator	Other	Sub	54	(T)₂₂=0.93	del(T)₁₁=0.00, del(T)₁₀=0.00, del(T)₉=0.00, del(T)₇=0.00, del(T)₆=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.07, delT=0.00, dupT=0.00, dupTT=0.00, dup(T)₄=0.00
Allele Frequency Aggregator	Asian	Sub	16	(T)₂₂=1.00	del(T)₁₁=0.00, del(T)₁₀=0.00, del(T)₉=0.00, del(T)₇=0.00, del(T)₆=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dup(T)₄=0.00
Allele Frequency Aggregator	Latin American 1	Sub	12	(T)₂₂=1.00	del(T)₁₁=0.00, del(T)₁₀=0.00, del(T)₉=0.00, del(T)₇=0.00, del(T)₆=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dup(T)₄=0.00
Allele Frequency Aggregator	Latin American 2	Sub	12	(T)₂₂=1.00	del(T)₁₁=0.00, del(T)₁₀=0.00, del(T)₉=0.00, del(T)₇=0.00, del(T)₆=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dup(T)₄=0.00
Allele Frequency Aggregator	South Asian	Sub	12	(T)₂₂=1.00	del(T)₁₁=0.00, del(T)₁₀=0.00, del(T)₉=0.00, del(T)₇=0.00, del(T)₆=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dup(T)₄=0.00

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.57955189_57955199del
GRCh38.p14 chr 6	NC_000006.12:g.57955190_57955199del
GRCh38.p14 chr 6	NC_000006.12:g.57955191_57955199del
GRCh38.p14 chr 6	NC_000006.12:g.57955192_57955199del
GRCh38.p14 chr 6	NC_000006.12:g.57955193_57955199del
GRCh38.p14 chr 6	NC_000006.12:g.57955194_57955199del
GRCh38.p14 chr 6	NC_000006.12:g.57955195_57955199del
GRCh38.p14 chr 6	NC_000006.12:g.57955196_57955199del
GRCh38.p14 chr 6	NC_000006.12:g.57955197_57955199del
GRCh38.p14 chr 6	NC_000006.12:g.57955198_57955199del
GRCh38.p14 chr 6	NC_000006.12:g.57955199del
GRCh38.p14 chr 6	NC_000006.12:g.57955199dup
GRCh38.p14 chr 6	NC_000006.12:g.57955198_57955199dup
GRCh38.p14 chr 6	NC_000006.12:g.57955196_57955199dup
GRCh37.p13 chr 6	NC_000006.11:g.58281467_58281477del
GRCh37.p13 chr 6	NC_000006.11:g.58281468_58281477del
GRCh37.p13 chr 6	NC_000006.11:g.58281469_58281477del
GRCh37.p13 chr 6	NC_000006.11:g.58281470_58281477del
GRCh37.p13 chr 6	NC_000006.11:g.58281471_58281477del
GRCh37.p13 chr 6	NC_000006.11:g.58281472_58281477del
GRCh37.p13 chr 6	NC_000006.11:g.58281473_58281477del
GRCh37.p13 chr 6	NC_000006.11:g.58281474_58281477del
GRCh37.p13 chr 6	NC_000006.11:g.58281475_58281477del
GRCh37.p13 chr 6	NC_000006.11:g.58281476_58281477del
GRCh37.p13 chr 6	NC_000006.11:g.58281477del
GRCh37.p13 chr 6	NC_000006.11:g.58281477dup
GRCh37.p13 chr 6	NC_000006.11:g.58281476_58281477dup
GRCh37.p13 chr 6	NC_000006.11:g.58281474_58281477dup

Gene: LINC00680-GUSBP4, LINC00680-GUSBP4 readthrough (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LINC00680-GUSBP4 transcript variant 2	NR_003660.2:n.	N/A	Intron Variant
LINC00680-GUSBP4 transcript variant 1	NR_132997.1:n.	N/A	Intron Variant
LINC00680-GUSBP4 transcript variant 3	NR_132998.1:n.	N/A	Intron Variant

Gene: LINC00680, long intergenic non-protein coding RNA 680 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LINC00680 transcript variant 1	NR_125727.1:n.	N/A	Intron Variant
LINC00680 transcript variant 2	NR_125728.1:n.	N/A	Intron Variant
LINC00680 transcript variant 3	NR_125729.1:n.	N/A	Intron Variant
LINC00680 transcript variant 4	NR_132994.1:n.	N/A	Intron Variant
LINC00680 transcript variant 5	NR_132995.1:n.	N/A	Intron Variant
LINC00680 transcript variant 6	NR_132996.1: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)₂₂=	del(T)₁₁	del(T)₁₀	del(T)₉	del(T)₈	del(T)₇	del(T)₆	del(T)₅	del(T)₄	delTTT	delTT	delT	dupT	dupTT	dup(T)₄
GRCh38.p14 chr 6	NC_000006.12:g.57955178_57955199=	NC_000006.12:g.57955189_57955199del	NC_000006.12:g.57955190_57955199del	NC_000006.12:g.57955191_57955199del	NC_000006.12:g.57955192_57955199del	NC_000006.12:g.57955193_57955199del	NC_000006.12:g.57955194_57955199del	NC_000006.12:g.57955195_57955199del	NC_000006.12:g.57955196_57955199del	NC_000006.12:g.57955197_57955199del	NC_000006.12:g.57955198_57955199del	NC_000006.12:g.57955199del	NC_000006.12:g.57955199dup	NC_000006.12:g.57955198_57955199dup	NC_000006.12:g.57955196_57955199dup
GRCh37.p13 chr 6	NC_000006.11:g.58281456_58281477=	NC_000006.11:g.58281467_58281477del	NC_000006.11:g.58281468_58281477del	NC_000006.11:g.58281469_58281477del	NC_000006.11:g.58281470_58281477del	NC_000006.11:g.58281471_58281477del	NC_000006.11:g.58281472_58281477del	NC_000006.11:g.58281473_58281477del	NC_000006.11:g.58281474_58281477del	NC_000006.11:g.58281475_58281477del	NC_000006.11:g.58281476_58281477del	NC_000006.11:g.58281477del	NC_000006.11:g.58281477dup	NC_000006.11:g.58281476_58281477dup	NC_000006.11:g.58281474_58281477dup

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#.

44 SubSNP, 26 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss80129838	Dec 16, 2007 (129)
2	HUMANGENOME_JCVI	ss95429825	Feb 06, 2009 (130)
3	HUMANGENOME_JCVI	ss98464459	Feb 06, 2009 (130)
4	EVA_UK10K_ALSPAC	ss1705181678	Apr 01, 2015 (144)
5	EVA_UK10K_TWINSUK	ss1705181693	Apr 01, 2015 (144)
6	EVA_UK10K_TWINSUK	ss1710272380	Apr 01, 2015 (144)
7	EVA_UK10K_ALSPAC	ss1710272506	Apr 01, 2015 (144)
8	SWEGEN	ss2999163782	Nov 08, 2017 (151)
9	MCHAISSO	ss3065085771	Nov 08, 2017 (151)
10	EVA_DECODE	ss3717304590	Jul 13, 2019 (153)
11	EVA_DECODE	ss3717304591	Jul 13, 2019 (153)
12	EVA_DECODE	ss3717304592	Jul 13, 2019 (153)
13	EVA_DECODE	ss3717304593	Jul 13, 2019 (153)
14	EVA_DECODE	ss3717304594	Jul 13, 2019 (153)
15	ACPOP	ss3733551141	Jul 13, 2019 (153)
16	ACPOP	ss3733551142	Jul 13, 2019 (153)
17	ACPOP	ss3733551143	Jul 13, 2019 (153)
18	EVA	ss3829950074	Apr 26, 2020 (154)
19	EVA	ss3843897627	Apr 26, 2020 (154)
20	GNOMAD	ss4142624975	Apr 26, 2021 (155)
21	GNOMAD	ss4142624976	Apr 26, 2021 (155)
22	GNOMAD	ss4142624977	Apr 26, 2021 (155)
23	GNOMAD	ss4142624979	Apr 26, 2021 (155)
24	GNOMAD	ss4142624980	Apr 26, 2021 (155)
25	GNOMAD	ss4142624981	Apr 26, 2021 (155)
26	GNOMAD	ss4142624982	Apr 26, 2021 (155)
27	GNOMAD	ss4142624983	Apr 26, 2021 (155)
28	GNOMAD	ss4142624984	Apr 26, 2021 (155)
29	TOMMO_GENOMICS	ss5177742096	Apr 26, 2021 (155)
30	TOMMO_GENOMICS	ss5177742097	Apr 26, 2021 (155)
31	TOMMO_GENOMICS	ss5177742098	Apr 26, 2021 (155)
32	TOMMO_GENOMICS	ss5177742099	Apr 26, 2021 (155)
33	1000G_HIGH_COVERAGE	ss5268613902	Oct 13, 2022 (156)
34	1000G_HIGH_COVERAGE	ss5268613903	Oct 13, 2022 (156)
35	1000G_HIGH_COVERAGE	ss5268613904	Oct 13, 2022 (156)
36	1000G_HIGH_COVERAGE	ss5268613905	Oct 13, 2022 (156)
37	HUGCELL_USP	ss5466263044	Oct 13, 2022 (156)
38	HUGCELL_USP	ss5466263045	Oct 13, 2022 (156)
39	HUGCELL_USP	ss5466263046	Oct 13, 2022 (156)
40	HUGCELL_USP	ss5466263047	Oct 13, 2022 (156)
41	TOMMO_GENOMICS	ss5715824705	Oct 13, 2022 (156)
42	TOMMO_GENOMICS	ss5715824706	Oct 13, 2022 (156)
43	TOMMO_GENOMICS	ss5715824707	Oct 13, 2022 (156)
44	TOMMO_GENOMICS	ss5715824709	Oct 13, 2022 (156)
45	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 17912634 (NC_000006.11:58281456:T: 3213/3854) Row 17912635 (NC_000006.11:58281455:TTT: 260/3854)	-	Oct 12, 2018 (152)
46	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 17912634 (NC_000006.11:58281456:T: 3213/3854) Row 17912635 (NC_000006.11:58281455:TTT: 260/3854)	-	Oct 12, 2018 (152)
47	gnomAD - Genomes Submission ignored due to conflicting rows: Row 226604143 (NC_000006.12:57955177::T 900/111980) Row 226604144 (NC_000006.12:57955177::TT 5/111986) Row 226604145 (NC_000006.12:57955177::TTTT 1/111984)...	-	Apr 26, 2021 (155)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 226604143 (NC_000006.12:57955177::T 900/111980) Row 226604144 (NC_000006.12:57955177::TT 5/111986) Row 226604145 (NC_000006.12:57955177::TTTT 1/111984)...	-	Apr 26, 2021 (155)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 226604143 (NC_000006.12:57955177::T 900/111980) Row 226604144 (NC_000006.12:57955177::TT 5/111986) Row 226604145 (NC_000006.12:57955177::TTTT 1/111984)...	-	Apr 26, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 226604143 (NC_000006.12:57955177::T 900/111980) Row 226604144 (NC_000006.12:57955177::TT 5/111986) Row 226604145 (NC_000006.12:57955177::TTTT 1/111984)...	-	Apr 26, 2021 (155)
51	gnomAD - Genomes Submission ignored due to conflicting rows: Row 226604143 (NC_000006.12:57955177::T 900/111980) Row 226604144 (NC_000006.12:57955177::TT 5/111986) Row 226604145 (NC_000006.12:57955177::TTTT 1/111984)...	-	Apr 26, 2021 (155)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 226604143 (NC_000006.12:57955177::T 900/111980) Row 226604144 (NC_000006.12:57955177::TT 5/111986) Row 226604145 (NC_000006.12:57955177::TTTT 1/111984)...	-	Apr 26, 2021 (155)
53	gnomAD - Genomes Submission ignored due to conflicting rows: Row 226604143 (NC_000006.12:57955177::T 900/111980) Row 226604144 (NC_000006.12:57955177::TT 5/111986) Row 226604145 (NC_000006.12:57955177::TTTT 1/111984)...	-	Apr 26, 2021 (155)
54	gnomAD - Genomes Submission ignored due to conflicting rows: Row 226604143 (NC_000006.12:57955177::T 900/111980) Row 226604144 (NC_000006.12:57955177::TT 5/111986) Row 226604145 (NC_000006.12:57955177::TTTT 1/111984)...	-	Apr 26, 2021 (155)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 226604143 (NC_000006.12:57955177::T 900/111980) Row 226604144 (NC_000006.12:57955177::TT 5/111986) Row 226604145 (NC_000006.12:57955177::TTTT 1/111984)...	-	Apr 26, 2021 (155)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 226604143 (NC_000006.12:57955177::T 900/111980) Row 226604144 (NC_000006.12:57955177::TT 5/111986) Row 226604145 (NC_000006.12:57955177::TTTT 1/111984)...	-	Apr 26, 2021 (155)
57	Northern Sweden Submission ignored due to conflicting rows: Row 6836006 (NC_000006.11:58281455:TT: 312/598) Row 6836007 (NC_000006.11:58281455:TTTTTT: 2/598) Row 6836008 (NC_000006.11:58281455:TTT: 5/598)	-	Jul 13, 2019 (153)
58	Northern Sweden Submission ignored due to conflicting rows: Row 6836006 (NC_000006.11:58281455:TT: 312/598) Row 6836007 (NC_000006.11:58281455:TTTTTT: 2/598) Row 6836008 (NC_000006.11:58281455:TTT: 5/598)	-	Jul 13, 2019 (153)
59	Northern Sweden Submission ignored due to conflicting rows: Row 6836006 (NC_000006.11:58281455:TT: 312/598) Row 6836007 (NC_000006.11:58281455:TTTTTT: 2/598) Row 6836008 (NC_000006.11:58281455:TTT: 5/598)	-	Jul 13, 2019 (153)
60	8.3KJPN Submission ignored due to conflicting rows: Row 35711403 (NC_000006.11:58281455:TT: 9911/16754) Row 35711404 (NC_000006.11:58281455:T: 609/16754) Row 35711405 (NC_000006.11:58281455:TTT: 26/16754)...	-	Apr 26, 2021 (155)
61	8.3KJPN Submission ignored due to conflicting rows: Row 35711403 (NC_000006.11:58281455:TT: 9911/16754) Row 35711404 (NC_000006.11:58281455:T: 609/16754) Row 35711405 (NC_000006.11:58281455:TTT: 26/16754)...	-	Apr 26, 2021 (155)
62	8.3KJPN Submission ignored due to conflicting rows: Row 35711403 (NC_000006.11:58281455:TT: 9911/16754) Row 35711404 (NC_000006.11:58281455:T: 609/16754) Row 35711405 (NC_000006.11:58281455:TTT: 26/16754)...	-	Apr 26, 2021 (155)
63	8.3KJPN Submission ignored due to conflicting rows: Row 35711403 (NC_000006.11:58281455:TT: 9911/16754) Row 35711404 (NC_000006.11:58281455:T: 609/16754) Row 35711405 (NC_000006.11:58281455:TTT: 26/16754)...	-	Apr 26, 2021 (155)
64	14KJPN Submission ignored due to conflicting rows: Row 49661809 (NC_000006.12:57955177:TT: 16832/28258) Row 49661810 (NC_000006.12:57955177:T: 1064/28258) Row 49661811 (NC_000006.12:57955177:TTT: 24/28258)...	-	Oct 13, 2022 (156)
65	14KJPN Submission ignored due to conflicting rows: Row 49661809 (NC_000006.12:57955177:TT: 16832/28258) Row 49661810 (NC_000006.12:57955177:T: 1064/28258) Row 49661811 (NC_000006.12:57955177:TTT: 24/28258)...	-	Oct 13, 2022 (156)
66	14KJPN Submission ignored due to conflicting rows: Row 49661809 (NC_000006.12:57955177:TT: 16832/28258) Row 49661810 (NC_000006.12:57955177:T: 1064/28258) Row 49661811 (NC_000006.12:57955177:TTT: 24/28258)...	-	Oct 13, 2022 (156)
67	14KJPN Submission ignored due to conflicting rows: Row 49661809 (NC_000006.12:57955177:TT: 16832/28258) Row 49661810 (NC_000006.12:57955177:T: 1064/28258) Row 49661811 (NC_000006.12:57955177:TTT: 24/28258)...	-	Oct 13, 2022 (156)
68	UK 10K study - Twins Submission ignored due to conflicting rows: Row 17912634 (NC_000006.11:58281456:T: 3152/3708) Row 17912635 (NC_000006.11:58281455:TTT: 212/3708)	-	Oct 12, 2018 (152)
69	UK 10K study - Twins Submission ignored due to conflicting rows: Row 17912634 (NC_000006.11:58281456:T: 3152/3708) Row 17912635 (NC_000006.11:58281455:TTT: 212/3708)	-	Oct 12, 2018 (152)
70	ALFA	NC_000006.12 - 57955178	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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
8179510171	NC_000006.12:57955177:TTTTTTTTTTTT… NC_000006.12:57955177:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT	NC_000006.12:57955177:TTTTTTTTTTTT… NC_000006.12:57955177:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss4142624984	NC_000006.12:57955177:TTTTTTTTTT:	NC_000006.12:57955177:TTTTTTTTTTTT… NC_000006.12:57955177:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
8179510171	NC_000006.12:57955177:TTTTTTTTTTTT… NC_000006.12:57955177:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	NC_000006.12:57955177:TTTTTTTTTTTT… NC_000006.12:57955177:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss4142624983	NC_000006.12:57955177:TTTTTTTTT:	NC_000006.12:57955177:TTTTTTTTTTTT… NC_000006.12:57955177:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
8179510171	NC_000006.12:57955177:TTTTTTTTTTTT… NC_000006.12:57955177:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	NC_000006.12:57955177:TTTTTTTTTTTT… NC_000006.12:57955177:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss4142624982	NC_000006.12:57955177:TTTTTTTT:	NC_000006.12:57955177:TTTTTTTTTTTT… NC_000006.12:57955177:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
8179510171	NC_000006.12:57955177:TTTTTTTTTTTT… NC_000006.12:57955177:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	NC_000006.12:57955177:TTTTTTTTTTTT… NC_000006.12:57955177:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss2999163782, ss3733551142	NC_000006.11:58281455:TTTTTT:	NC_000006.12:57955177:TTTTTTTTTTTT… NC_000006.12:57955177:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss4142624981	NC_000006.12:57955177:TTTTTT:	NC_000006.12:57955177:TTTTTTTTTTTT… NC_000006.12:57955177:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
8179510171	NC_000006.12:57955177:TTTTTTTTTTTT… NC_000006.12:57955177:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	NC_000006.12:57955177:TTTTTTTTTTTT… NC_000006.12:57955177:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss4142624980	NC_000006.12:57955177:TTTTT:	NC_000006.12:57955177:TTTTTTTTTTTT… NC_000006.12:57955177:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss3717304590, ss4142624979	NC_000006.12:57955177:TTTT:	NC_000006.12:57955177:TTTTTTTTTTTT… NC_000006.12:57955177:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
8179510171	NC_000006.12:57955177:TTTTTTTTTTTT… NC_000006.12:57955177:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	NC_000006.12:57955177:TTTTTTTTTTTT… NC_000006.12:57955177:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss1705181678, ss1705181693, ss3733551143, ss5177742098	NC_000006.11:58281455:TTT:	NC_000006.12:57955177:TTTTTTTTTTTT… NC_000006.12:57955177:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss5268613904, ss5466263047, ss5715824707	NC_000006.12:57955177:TTT:	NC_000006.12:57955177:TTTTTTTTTTTT… NC_000006.12:57955177:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
8179510171	NC_000006.12:57955177:TTTTTTTTTTTT… NC_000006.12:57955177:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	NC_000006.12:57955177:TTTTTTTTTTTT… NC_000006.12:57955177:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss3717304591	NC_000006.12:57955178:TTT:	NC_000006.12:57955177:TTTTTTTTTTTT… NC_000006.12:57955177:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss80129838	NC_000006.9:58389434:TT:	NC_000006.12:57955177:TTTTTTTTTTTT… NC_000006.12:57955177:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss3733551141, ss3829950074, ss5177742096	NC_000006.11:58281455:TT:	NC_000006.12:57955177:TTTTTTTTTTTT… NC_000006.12:57955177:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss1710272380, ss1710272506	NC_000006.11:58281456:TT:	NC_000006.12:57955177:TTTTTTTTTTTT… NC_000006.12:57955177:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss3065085771, ss3843897627, ss5268613902, ss5466263045, ss5715824705	NC_000006.12:57955177:TT:	NC_000006.12:57955177:TTTTTTTTTTTT… NC_000006.12:57955177:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
8179510171	NC_000006.12:57955177:TTTTTTTTTTTT… NC_000006.12:57955177:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	NC_000006.12:57955177:TTTTTTTTTTTT… NC_000006.12:57955177:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss3717304592	NC_000006.12:57955179:TT:	NC_000006.12:57955177:TTTTTTTTTTTT… NC_000006.12:57955177:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss5177742097	NC_000006.11:58281455:T:	NC_000006.12:57955177:TTTTTTTTTTTT… NC_000006.12:57955177:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
	NC_000006.11:58281456:T:	NC_000006.12:57955177:TTTTTTTTTTTT… NC_000006.12:57955177:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss5268613903, ss5466263046, ss5715824706	NC_000006.12:57955177:T:	NC_000006.12:57955177:TTTTTTTTTTTT… NC_000006.12:57955177:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
8179510171	NC_000006.12:57955177:TTTTTTTTTTTT… NC_000006.12:57955177:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	NC_000006.12:57955177:TTTTTTTTTTTT… NC_000006.12:57955177:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss3717304593	NC_000006.12:57955180:T:	NC_000006.12:57955177:TTTTTTTTTTTT… NC_000006.12:57955177:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss95429825, ss98464459	NT_007592.15:58221476:T:	NC_000006.12:57955177:TTTTTTTTTTTT… NC_000006.12:57955177:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss5177742099	NC_000006.11:58281455::T	NC_000006.12:57955177:TTTTTTTTTTTT… NC_000006.12:57955177:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4142624975, ss5268613905, ss5466263044, ss5715824709	NC_000006.12:57955177::T	NC_000006.12:57955177:TTTTTTTTTTTT… NC_000006.12:57955177:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
8179510171	NC_000006.12:57955177:TTTTTTTTTTTT… NC_000006.12:57955177:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	NC_000006.12:57955177:TTTTTTTTTTTT… NC_000006.12:57955177:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3717304594	NC_000006.12:57955181::T	NC_000006.12:57955177:TTTTTTTTTTTT… NC_000006.12:57955177:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss95429825, ss98464459	NT_007592.15:58221476:T:TT	NC_000006.12:57955177:TTTTTTTTTTTT… NC_000006.12:57955177:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4142624976	NC_000006.12:57955177::TT	NC_000006.12:57955177:TTTTTTTTTTTT… NC_000006.12:57955177:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
8179510171	NC_000006.12:57955177:TTTTTTTTTTTT… NC_000006.12:57955177:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	NC_000006.12:57955177:TTTTTTTTTTTT… NC_000006.12:57955177:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4142624977	NC_000006.12:57955177::TTTT	NC_000006.12:57955177:TTTTTTTTTTTT… NC_000006.12:57955177:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
8179510171	NC_000006.12:57955177:TTTTTTTTTTTT… NC_000006.12:57955177:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000006.12:57955177:TTTTTTTTTTTT… NC_000006.12:57955177:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss3498704215	NC_000006.12:57955177:TTTTTTT:	NC_000006.12:57955177:TTTTTTTTTTTT… NC_000006.12:57955177:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

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

No publications for rs61449721

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

rs61449721