Name: rs564945266
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.

rs564945266

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr20:31645430-31645447 (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)₆ / del(T)₄ / delTTT / delTT…
del(T)₆ / del(T)₄ / delTTT / delTT / delT / dupT / dupTT / dupTTT / dup(T)₄ / dup(T)₅ / dup(T)₆ / dup(T)₁₀
Variation Type: Indel Insertion and Deletion
Frequency: dupTT=0.07747 (788/10172, ALFA)
dupT=0.45 (18/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: COX4I2 : 500B Downstream 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	10172	TTTTTTTTTTTTTTTTTT=0.90130	TTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTT=0.00649, TTTTTTTTTTTTTTTTTTTT=0.07747, TTTTTTTTTTTTTTTTTTT=0.01416, TTTTTTTTTTTTTTTTTTTTT=0.00059, TTTTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTTTT=0.00000	0.871879	0.024969	0.103152	32
European	Sub	8786	TTTTTTTTTTTTTTTTTT=0.8861	TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0074, TTTTTTTTTTTTTTTTTTTT=0.0895, TTTTTTTTTTTTTTTTTTT=0.0164, TTTTTTTTTTTTTTTTTTTTT=0.0007, TTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTT=0.0000	0.851216	0.029089	0.119695	32
African	Sub	536	TTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
African Others	Sub	12	TTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
African American	Sub	524	TTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
Asian	Sub	98	TTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	76	TTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	22	TTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	80	TTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	382	TTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	68	TTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other	Sub	222	TTTTTTTTTTTTTTTTTT=0.986	TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.005, TTTTTTTTTTTTTTTTTTTT=0.009, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000	0.981818	0.0	0.018182	0

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	10172	(T)₁₈=0.90130	del(T)₄=0.00000, delTTT=0.00000, delTT=0.00000, delT=0.00649, dupT=0.01416, dupTT=0.07747, dupTTT=0.00059, dup(T)₄=0.00000, dup(T)₅=0.00000
Allele Frequency Aggregator	European	Sub	8786	(T)₁₈=0.8861	del(T)₄=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0074, dupT=0.0164, dupTT=0.0895, dupTTT=0.0007, dup(T)₄=0.0000, dup(T)₅=0.0000
Allele Frequency Aggregator	African	Sub	536	(T)₁₈=1.000	del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₄=0.000, dup(T)₅=0.000
Allele Frequency Aggregator	Latin American 2	Sub	382	(T)₁₈=1.000	del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₄=0.000, dup(T)₅=0.000
Allele Frequency Aggregator	Other	Sub	222	(T)₁₈=0.986	del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.005, dupT=0.000, dupTT=0.009, dupTTT=0.000, dup(T)₄=0.000, dup(T)₅=0.000
Allele Frequency Aggregator	Asian	Sub	98	(T)₁₈=1.00	del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₄=0.00, dup(T)₅=0.00
Allele Frequency Aggregator	Latin American 1	Sub	80	(T)₁₈=1.00	del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₄=0.00, dup(T)₅=0.00
Allele Frequency Aggregator	South Asian	Sub	68	(T)₁₈=1.00	del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₄=0.00, dup(T)₅=0.00
The Danish reference pan genome	Danish	Study-wide	40	- No frequency provided	dupT=0.45

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 20	NC_000020.11:g.31645442_31645447del
GRCh38.p14 chr 20	NC_000020.11:g.31645444_31645447del
GRCh38.p14 chr 20	NC_000020.11:g.31645445_31645447del
GRCh38.p14 chr 20	NC_000020.11:g.31645446_31645447del
GRCh38.p14 chr 20	NC_000020.11:g.31645447del
GRCh38.p14 chr 20	NC_000020.11:g.31645447dup
GRCh38.p14 chr 20	NC_000020.11:g.31645446_31645447dup
GRCh38.p14 chr 20	NC_000020.11:g.31645445_31645447dup
GRCh38.p14 chr 20	NC_000020.11:g.31645444_31645447dup
GRCh38.p14 chr 20	NC_000020.11:g.31645443_31645447dup
GRCh38.p14 chr 20	NC_000020.11:g.31645442_31645447dup
GRCh38.p14 chr 20	NC_000020.11:g.31645438_31645447dup
GRCh37.p13 chr 20	NC_000020.10:g.30233245_30233250del
GRCh37.p13 chr 20	NC_000020.10:g.30233247_30233250del
GRCh37.p13 chr 20	NC_000020.10:g.30233248_30233250del
GRCh37.p13 chr 20	NC_000020.10:g.30233249_30233250del
GRCh37.p13 chr 20	NC_000020.10:g.30233250del
GRCh37.p13 chr 20	NC_000020.10:g.30233250dup
GRCh37.p13 chr 20	NC_000020.10:g.30233249_30233250dup
GRCh37.p13 chr 20	NC_000020.10:g.30233248_30233250dup
GRCh37.p13 chr 20	NC_000020.10:g.30233247_30233250dup
GRCh37.p13 chr 20	NC_000020.10:g.30233246_30233250dup
GRCh37.p13 chr 20	NC_000020.10:g.30233245_30233250dup
GRCh37.p13 chr 20	NC_000020.10:g.30233241_30233250dup
COX4I2 RefSeqGene	NG_012180.1:g.12555_12560del
COX4I2 RefSeqGene	NG_012180.1:g.12557_12560del
COX4I2 RefSeqGene	NG_012180.1:g.12558_12560del
COX4I2 RefSeqGene	NG_012180.1:g.12559_12560del
COX4I2 RefSeqGene	NG_012180.1:g.12560del
COX4I2 RefSeqGene	NG_012180.1:g.12560dup
COX4I2 RefSeqGene	NG_012180.1:g.12559_12560dup
COX4I2 RefSeqGene	NG_012180.1:g.12558_12560dup
COX4I2 RefSeqGene	NG_012180.1:g.12557_12560dup
COX4I2 RefSeqGene	NG_012180.1:g.12556_12560dup
COX4I2 RefSeqGene	NG_012180.1:g.12555_12560dup
COX4I2 RefSeqGene	NG_012180.1:g.12551_12560dup

Gene: COX4I2, cytochrome c oxidase subunit 4I2 (plus strand) : 500B Downstream Variant

Molecule type	Change	Amino acid[Codon]	SO Term
COX4I2 transcript	NM_032609.3:c.	N/A	Downstream Transcript Variant
COX4I2 transcript variant X1	XM_005260579.5:c.	N/A	Downstream Transcript Variant
COX4I2 transcript variant X2	XM_005260580.5:c.	N/A	Downstream Transcript Variant
COX4I2 transcript variant X3	XM_005260581.4:c.	N/A	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	(T)₁₈=	del(T)₆	del(T)₄	delTTT	delTT	delT	dupT	dupTT	dupTTT	dup(T)₄	dup(T)₅	dup(T)₆	dup(T)₁₀
GRCh38.p14 chr 20	NC_000020.11:g.31645430_31645447=	NC_000020.11:g.31645442_31645447del	NC_000020.11:g.31645444_31645447del	NC_000020.11:g.31645445_31645447del	NC_000020.11:g.31645446_31645447del	NC_000020.11:g.31645447del	NC_000020.11:g.31645447dup	NC_000020.11:g.31645446_31645447dup	NC_000020.11:g.31645445_31645447dup	NC_000020.11:g.31645444_31645447dup	NC_000020.11:g.31645443_31645447dup	NC_000020.11:g.31645442_31645447dup	NC_000020.11:g.31645438_31645447dup
GRCh37.p13 chr 20	NC_000020.10:g.30233233_30233250=	NC_000020.10:g.30233245_30233250del	NC_000020.10:g.30233247_30233250del	NC_000020.10:g.30233248_30233250del	NC_000020.10:g.30233249_30233250del	NC_000020.10:g.30233250del	NC_000020.10:g.30233250dup	NC_000020.10:g.30233249_30233250dup	NC_000020.10:g.30233248_30233250dup	NC_000020.10:g.30233247_30233250dup	NC_000020.10:g.30233246_30233250dup	NC_000020.10:g.30233245_30233250dup	NC_000020.10:g.30233241_30233250dup
COX4I2 RefSeqGene	NG_012180.1:g.12543_12560=	NG_012180.1:g.12555_12560del	NG_012180.1:g.12557_12560del	NG_012180.1:g.12558_12560del	NG_012180.1:g.12559_12560del	NG_012180.1:g.12560del	NG_012180.1:g.12560dup	NG_012180.1:g.12559_12560dup	NG_012180.1:g.12558_12560dup	NG_012180.1:g.12557_12560dup	NG_012180.1:g.12556_12560dup	NG_012180.1:g.12555_12560dup	NG_012180.1:g.12551_12560dup

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#.

42 SubSNP, 22 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SSIP	ss947402426	Aug 21, 2014 (142)
2	EVA_GENOME_DK	ss1575697143	Apr 01, 2015 (144)
3	SWEGEN	ss3018099244	Nov 08, 2017 (151)
4	MCHAISSO	ss3065815768	Nov 08, 2017 (151)
5	EVA_DECODE	ss3706839911	Jul 13, 2019 (153)
6	EVA_DECODE	ss3706839912	Jul 13, 2019 (153)
7	EVA_DECODE	ss3706839913	Jul 13, 2019 (153)
8	EVA_DECODE	ss3706839914	Jul 13, 2019 (153)
9	EVA_DECODE	ss3706839915	Jul 13, 2019 (153)
10	EVA_DECODE	ss3706839916	Jul 13, 2019 (153)
11	ACPOP	ss3743351889	Jul 13, 2019 (153)
12	ACPOP	ss3743351890	Jul 13, 2019 (153)
13	PACBIO	ss3788634359	Jul 13, 2019 (153)
14	PACBIO	ss3793529183	Jul 13, 2019 (153)
15	PACBIO	ss3798416071	Jul 13, 2019 (153)
16	GNOMAD	ss4352436867	Apr 27, 2021 (155)
17	GNOMAD	ss4352436868	Apr 27, 2021 (155)
18	GNOMAD	ss4352436869	Apr 27, 2021 (155)
19	GNOMAD	ss4352436871	Apr 27, 2021 (155)
20	GNOMAD	ss4352436872	Apr 27, 2021 (155)
21	GNOMAD	ss4352436873	Apr 27, 2021 (155)
22	GNOMAD	ss4352436874	Apr 27, 2021 (155)
23	GNOMAD	ss4352436876	Apr 27, 2021 (155)
24	GNOMAD	ss4352436877	Apr 27, 2021 (155)
25	GNOMAD	ss4352436878	Apr 27, 2021 (155)
26	GNOMAD	ss4352436879	Apr 27, 2021 (155)
27	GNOMAD	ss4352436880	Apr 27, 2021 (155)
28	TOMMO_GENOMICS	ss5229392281	Apr 27, 2021 (155)
29	TOMMO_GENOMICS	ss5229392282	Apr 27, 2021 (155)
30	TOMMO_GENOMICS	ss5229392283	Apr 27, 2021 (155)
31	1000G_HIGH_COVERAGE	ss5308609412	Oct 13, 2022 (156)
32	1000G_HIGH_COVERAGE	ss5308609413	Oct 13, 2022 (156)
33	1000G_HIGH_COVERAGE	ss5308609414	Oct 13, 2022 (156)
34	1000G_HIGH_COVERAGE	ss5308609415	Oct 13, 2022 (156)
35	HUGCELL_USP	ss5500905004	Oct 13, 2022 (156)
36	HUGCELL_USP	ss5500905005	Oct 13, 2022 (156)
37	HUGCELL_USP	ss5500905006	Oct 13, 2022 (156)
38	HUGCELL_USP	ss5500905007	Oct 13, 2022 (156)
39	TOMMO_GENOMICS	ss5789108812	Oct 13, 2022 (156)
40	TOMMO_GENOMICS	ss5789108813	Oct 13, 2022 (156)
41	TOMMO_GENOMICS	ss5789108815	Oct 13, 2022 (156)
42	EVA	ss5853121361	Oct 13, 2022 (156)
43	The Danish reference pan genome	NC_000020.10 - 30233233	Apr 27, 2020 (154)
44	gnomAD - Genomes Submission ignored due to conflicting rows: Row 550255754 (NC_000020.11:31645429::T 5935/120608) Row 550255755 (NC_000020.11:31645429::TT 30861/120488) Row 550255756 (NC_000020.11:31645429::TTT 1822/120610)...	-	Apr 27, 2021 (155)
45	gnomAD - Genomes Submission ignored due to conflicting rows: Row 550255754 (NC_000020.11:31645429::T 5935/120608) Row 550255755 (NC_000020.11:31645429::TT 30861/120488) Row 550255756 (NC_000020.11:31645429::TTT 1822/120610)...	-	Apr 27, 2021 (155)
46	gnomAD - Genomes Submission ignored due to conflicting rows: Row 550255754 (NC_000020.11:31645429::T 5935/120608) Row 550255755 (NC_000020.11:31645429::TT 30861/120488) Row 550255756 (NC_000020.11:31645429::TTT 1822/120610)...	-	Apr 27, 2021 (155)
47	gnomAD - Genomes Submission ignored due to conflicting rows: Row 550255754 (NC_000020.11:31645429::T 5935/120608) Row 550255755 (NC_000020.11:31645429::TT 30861/120488) Row 550255756 (NC_000020.11:31645429::TTT 1822/120610)...	-	Apr 27, 2021 (155)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 550255754 (NC_000020.11:31645429::T 5935/120608) Row 550255755 (NC_000020.11:31645429::TT 30861/120488) Row 550255756 (NC_000020.11:31645429::TTT 1822/120610)...	-	Apr 27, 2021 (155)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 550255754 (NC_000020.11:31645429::T 5935/120608) Row 550255755 (NC_000020.11:31645429::TT 30861/120488) Row 550255756 (NC_000020.11:31645429::TTT 1822/120610)...	-	Apr 27, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 550255754 (NC_000020.11:31645429::T 5935/120608) Row 550255755 (NC_000020.11:31645429::TT 30861/120488) Row 550255756 (NC_000020.11:31645429::TTT 1822/120610)...	-	Apr 27, 2021 (155)
51	gnomAD - Genomes Submission ignored due to conflicting rows: Row 550255754 (NC_000020.11:31645429::T 5935/120608) Row 550255755 (NC_000020.11:31645429::TT 30861/120488) Row 550255756 (NC_000020.11:31645429::TTT 1822/120610)...	-	Apr 27, 2021 (155)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 550255754 (NC_000020.11:31645429::T 5935/120608) Row 550255755 (NC_000020.11:31645429::TT 30861/120488) Row 550255756 (NC_000020.11:31645429::TTT 1822/120610)...	-	Apr 27, 2021 (155)
53	gnomAD - Genomes Submission ignored due to conflicting rows: Row 550255754 (NC_000020.11:31645429::T 5935/120608) Row 550255755 (NC_000020.11:31645429::TT 30861/120488) Row 550255756 (NC_000020.11:31645429::TTT 1822/120610)...	-	Apr 27, 2021 (155)
54	gnomAD - Genomes Submission ignored due to conflicting rows: Row 550255754 (NC_000020.11:31645429::T 5935/120608) Row 550255755 (NC_000020.11:31645429::TT 30861/120488) Row 550255756 (NC_000020.11:31645429::TTT 1822/120610)...	-	Apr 27, 2021 (155)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 550255754 (NC_000020.11:31645429::T 5935/120608) Row 550255755 (NC_000020.11:31645429::TT 30861/120488) Row 550255756 (NC_000020.11:31645429::TTT 1822/120610)...	-	Apr 27, 2021 (155)
56	Northern Sweden Submission ignored due to conflicting rows: Row 16636754 (NC_000020.10:30233232::TT 78/600) Row 16636755 (NC_000020.10:30233232:T: 9/600)	-	Jul 13, 2019 (153)
57	Northern Sweden Submission ignored due to conflicting rows: Row 16636754 (NC_000020.10:30233232::TT 78/600) Row 16636755 (NC_000020.10:30233232:T: 9/600)	-	Jul 13, 2019 (153)
58	8.3KJPN Submission ignored due to conflicting rows: Row 87361588 (NC_000020.10:30233232::T 208/16754) Row 87361589 (NC_000020.10:30233232:T: 70/16754) Row 87361590 (NC_000020.10:30233232::TT 2/16754)	-	Apr 27, 2021 (155)
59	8.3KJPN Submission ignored due to conflicting rows: Row 87361588 (NC_000020.10:30233232::T 208/16754) Row 87361589 (NC_000020.10:30233232:T: 70/16754) Row 87361590 (NC_000020.10:30233232::TT 2/16754)	-	Apr 27, 2021 (155)
60	8.3KJPN Submission ignored due to conflicting rows: Row 87361588 (NC_000020.10:30233232::T 208/16754) Row 87361589 (NC_000020.10:30233232:T: 70/16754) Row 87361590 (NC_000020.10:30233232::TT 2/16754)	-	Apr 27, 2021 (155)
61	14KJPN Submission ignored due to conflicting rows: Row 122945916 (NC_000020.11:31645429:T: 106/28258) Row 122945917 (NC_000020.11:31645429::T 319/28258) Row 122945919 (NC_000020.11:31645429::TT 2/28258)	-	Oct 13, 2022 (156)
62	14KJPN Submission ignored due to conflicting rows: Row 122945916 (NC_000020.11:31645429:T: 106/28258) Row 122945917 (NC_000020.11:31645429::T 319/28258) Row 122945919 (NC_000020.11:31645429::TT 2/28258)	-	Oct 13, 2022 (156)
63	14KJPN Submission ignored due to conflicting rows: Row 122945916 (NC_000020.11:31645429:T: 106/28258) Row 122945917 (NC_000020.11:31645429::T 319/28258) Row 122945919 (NC_000020.11:31645429::TT 2/28258)	-	Oct 13, 2022 (156)
64	ALFA	NC_000020.11 - 31645430	Apr 27, 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
ss4352436880	NC_000020.11:31645429:TTTTTT:	NC_000020.11:31645429:TTTTTTTTTTTT… NC_000020.11:31645429:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss4352436879	NC_000020.11:31645429:TTTT:	NC_000020.11:31645429:TTTTTTTTTTTT… NC_000020.11:31645429:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
15699505487	NC_000020.11:31645429:TTTTTTTTTTTT… NC_000020.11:31645429:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	NC_000020.11:31645429:TTTTTTTTTTTT… NC_000020.11:31645429:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss3706839911, ss4352436878	NC_000020.11:31645429:TTT:	NC_000020.11:31645429:TTTTTTTTTTTT… NC_000020.11:31645429:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
15699505487	NC_000020.11:31645429:TTTTTTTTTTTT… NC_000020.11:31645429:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	NC_000020.11:31645429:TTTTTTTTTTTT… NC_000020.11:31645429:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss4352436877	NC_000020.11:31645429:TT:	NC_000020.11:31645429:TTTTTTTTTTTT… NC_000020.11:31645429:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
15699505487	NC_000020.11:31645429:TTTTTTTTTTTT… NC_000020.11:31645429:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	NC_000020.11:31645429:TTTTTTTTTTTT… NC_000020.11:31645429:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss3706839912	NC_000020.11:31645430:TT:	NC_000020.11:31645429:TTTTTTTTTTTT… NC_000020.11:31645429:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss3018099244, ss3743351890, ss5229392282	NC_000020.10:30233232:T:	NC_000020.11:31645429:TTTTTTTTTTTT… NC_000020.11:31645429:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss4352436876, ss5308609415, ss5500905005, ss5789108812, ss5853121361	NC_000020.11:31645429:T:	NC_000020.11:31645429:TTTTTTTTTTTT… NC_000020.11:31645429:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
15699505487	NC_000020.11:31645429:TTTTTTTTTTTT… NC_000020.11:31645429:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	NC_000020.11:31645429:TTTTTTTTTTTT… NC_000020.11:31645429:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss3706839913	NC_000020.11:31645431:T:	NC_000020.11:31645429:TTTTTTTTTTTT… NC_000020.11:31645429:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
755552, ss1575697143, ss5229392281	NC_000020.10:30233232::T	NC_000020.11:31645429:TTTTTTTTTTTT… NC_000020.11:31645429:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss947402426	NC_000020.10:30233233::T	NC_000020.11:31645429:TTTTTTTTTTTT… NC_000020.11:31645429:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss4352436867, ss5308609413, ss5500905004, ss5789108813	NC_000020.11:31645429::T	NC_000020.11:31645429:TTTTTTTTTTTT… NC_000020.11:31645429:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
15699505487	NC_000020.11:31645429:TTTTTTTTTTTT… NC_000020.11:31645429:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	NC_000020.11:31645429:TTTTTTTTTTTT… NC_000020.11:31645429:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss3706839914	NC_000020.11:31645432::T	NC_000020.11:31645429:TTTTTTTTTTTT… NC_000020.11:31645429:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss3743351889, ss3788634359, ss3793529183, ss3798416071, ss5229392283	NC_000020.10:30233232::TT	NC_000020.11:31645429:TTTTTTTTTTTT… NC_000020.11:31645429:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss3065815768, ss4352436868, ss5308609412, ss5500905006, ss5789108815	NC_000020.11:31645429::TT	NC_000020.11:31645429:TTTTTTTTTTTT… NC_000020.11:31645429:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
15699505487	NC_000020.11:31645429:TTTTTTTTTTTT… NC_000020.11:31645429:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	NC_000020.11:31645429:TTTTTTTTTTTT… NC_000020.11:31645429:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss3706839915	NC_000020.11:31645432::TT	NC_000020.11:31645429:TTTTTTTTTTTT… NC_000020.11:31645429:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss4352436869, ss5308609414, ss5500905007	NC_000020.11:31645429::TTT	NC_000020.11:31645429:TTTTTTTTTTTT… NC_000020.11:31645429:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
15699505487	NC_000020.11:31645429:TTTTTTTTTTTT… NC_000020.11:31645429:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	NC_000020.11:31645429:TTTTTTTTTTTT… NC_000020.11:31645429:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss3706839916	NC_000020.11:31645432::TTT	NC_000020.11:31645429:TTTTTTTTTTTT… NC_000020.11:31645429:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss4352436871	NC_000020.11:31645429::TTTT	NC_000020.11:31645429:TTTTTTTTTTTT… NC_000020.11:31645429:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
15699505487	NC_000020.11:31645429:TTTTTTTTTTTT… NC_000020.11:31645429:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	NC_000020.11:31645429:TTTTTTTTTTTT… NC_000020.11:31645429:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss4352436872	NC_000020.11:31645429::TTTTT	NC_000020.11:31645429:TTTTTTTTTTTT… NC_000020.11:31645429:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
15699505487	NC_000020.11:31645429:TTTTTTTTTTTT… NC_000020.11:31645429:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	NC_000020.11:31645429:TTTTTTTTTTTT… NC_000020.11:31645429:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4352436873	NC_000020.11:31645429::TTTTTT	NC_000020.11:31645429:TTTTTTTTTTTT… NC_000020.11:31645429:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4352436874	NC_000020.11:31645429::TTTTTTTTTT	NC_000020.11:31645429:TTTTTTTTTTTT… NC_000020.11:31645429:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT	(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 rs564945266

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

rs564945266