Name: rs569143215
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.

rs569143215

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr17:60418397-60418416 (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)₇ / del(T)₄ / delTT / delT /…
del(T)₇ / del(T)₄ / delTT / delT / dupT / dupTT / dupTTT / dup(T)₄ / dup(T)₅ / dup(T)₆ / dup(T)₇ / dup(T)₈ / dup(T)₉
Variation Type: Indel Insertion and Deletion
Frequency: del(T)₇=0.000011 (3/264690, TOPMED)
dupT=0.02615 (377/14417, ALFA)
delT=0.1546 (774/5008, 1000G) (+ 1 more)
dupT=0.40 (16/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: USP32 : Intron Variant
LOC105371850 : 2KB Upstream 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	14417	TTTTTTTTTTTTTTTTTTTT=0.97073	TTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTT=0.00201, TTTTTTTTTTTTTTTTTTTTT=0.02615, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00076, TTTTTTTTTTTTTTTTTTTTTT=0.00035, TTTTTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00000	0.952487	0.004192	0.04332	32
European	Sub	12321	TTTTTTTTTTTTTTTTTTTT=0.96591	TTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTT=0.00227, TTTTTTTTTTTTTTTTTTTTT=0.03052, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00089, TTTTTTTTTTTTTTTTTTTTTT=0.00041, TTTTTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00000	0.944508	0.004911	0.050581	32
African	Sub	950	TTTTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
African Others	Sub	32	TTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
African American	Sub	918	TTTTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
Asian	Sub	106	TTTTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
East Asian	Sub	82	TTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	24	TTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	98	TTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	516	TTTTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	84	TTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other	Sub	342	TTTTTTTTTTTTTTTTTTTT=0.994	TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.003, TTTTTTTTTTTTTTTTTTTTT=0.003, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000	0.994118	0.0	0.005882	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
TopMed	Global	Study-wide	264690	(T)₂₀=0.999989	del(T)₇=0.000011
Allele Frequency Aggregator	Total	Global	14417	(T)₂₀=0.97073	del(T)₇=0.00000, del(T)₄=0.00000, delTT=0.00000, delT=0.00201, dupT=0.02615, dupTT=0.00035, dupTTT=0.00000, dup(T)₄=0.00000, dup(T)₅=0.00000, dup(T)₇=0.00076
Allele Frequency Aggregator	European	Sub	12321	(T)₂₀=0.96591	del(T)₇=0.00000, del(T)₄=0.00000, delTT=0.00000, delT=0.00227, dupT=0.03052, dupTT=0.00041, dupTTT=0.00000, dup(T)₄=0.00000, dup(T)₅=0.00000, dup(T)₇=0.00089
Allele Frequency Aggregator	African	Sub	950	(T)₂₀=1.000	del(T)₇=0.000, del(T)₄=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, dup(T)₇=0.000
Allele Frequency Aggregator	Latin American 2	Sub	516	(T)₂₀=1.000	del(T)₇=0.000, del(T)₄=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, dup(T)₇=0.000
Allele Frequency Aggregator	Other	Sub	342	(T)₂₀=0.994	del(T)₇=0.000, del(T)₄=0.000, delTT=0.000, delT=0.003, dupT=0.003, dupTT=0.000, dupTTT=0.000, dup(T)₄=0.000, dup(T)₅=0.000, dup(T)₇=0.000
Allele Frequency Aggregator	Asian	Sub	106	(T)₂₀=1.000	del(T)₇=0.000, del(T)₄=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, dup(T)₇=0.000
Allele Frequency Aggregator	Latin American 1	Sub	98	(T)₂₀=1.00	del(T)₇=0.00, del(T)₄=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, dup(T)₇=0.00
Allele Frequency Aggregator	South Asian	Sub	84	(T)₂₀=1.00	del(T)₇=0.00, del(T)₄=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, dup(T)₇=0.00
1000Genomes	Global	Study-wide	5008	(T)₂₀=0.8454	delT=0.1546
1000Genomes	African	Sub	1322	(T)₂₀=0.7943	delT=0.2057
1000Genomes	East Asian	Sub	1008	(T)₂₀=0.8502	delT=0.1498
1000Genomes	Europe	Sub	1006	(T)₂₀=0.8310	delT=0.1690
1000Genomes	South Asian	Sub	978	(T)₂₀=0.899	delT=0.101
1000Genomes	American	Sub	694	(T)₂₀=0.882	delT=0.118
The Danish reference pan genome	Danish	Study-wide	40	- No frequency provided	dupT=0.40

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 17	NC_000017.11:g.60418410_60418416del
GRCh38.p14 chr 17	NC_000017.11:g.60418413_60418416del
GRCh38.p14 chr 17	NC_000017.11:g.60418415_60418416del
GRCh38.p14 chr 17	NC_000017.11:g.60418416del
GRCh38.p14 chr 17	NC_000017.11:g.60418416dup
GRCh38.p14 chr 17	NC_000017.11:g.60418415_60418416dup
GRCh38.p14 chr 17	NC_000017.11:g.60418414_60418416dup
GRCh38.p14 chr 17	NC_000017.11:g.60418413_60418416dup
GRCh38.p14 chr 17	NC_000017.11:g.60418412_60418416dup
GRCh38.p14 chr 17	NC_000017.11:g.60418411_60418416dup
GRCh38.p14 chr 17	NC_000017.11:g.60418410_60418416dup
GRCh38.p14 chr 17	NC_000017.11:g.60418409_60418416dup
GRCh38.p14 chr 17	NC_000017.11:g.60418408_60418416dup
GRCh37.p13 chr 17	NC_000017.10:g.58495771_58495777del
GRCh37.p13 chr 17	NC_000017.10:g.58495774_58495777del
GRCh37.p13 chr 17	NC_000017.10:g.58495776_58495777del
GRCh37.p13 chr 17	NC_000017.10:g.58495777del
GRCh37.p13 chr 17	NC_000017.10:g.58495777dup
GRCh37.p13 chr 17	NC_000017.10:g.58495776_58495777dup
GRCh37.p13 chr 17	NC_000017.10:g.58495775_58495777dup
GRCh37.p13 chr 17	NC_000017.10:g.58495774_58495777dup
GRCh37.p13 chr 17	NC_000017.10:g.58495773_58495777dup
GRCh37.p13 chr 17	NC_000017.10:g.58495772_58495777dup
GRCh37.p13 chr 17	NC_000017.10:g.58495771_58495777dup
GRCh37.p13 chr 17	NC_000017.10:g.58495770_58495777dup
GRCh37.p13 chr 17	NC_000017.10:g.58495769_58495777dup

Gene: USP32, ubiquitin specific peptidase 32 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
USP32 transcript	NM_032582.4:c.	N/A	Genic Upstream Transcript Variant
USP32 transcript variant X1	XM_011525371.2:c.106+3843… XM_011525371.2:c.106+3843_106+3849del	N/A	Intron Variant
USP32 transcript variant X2	XM_011525372.2:c.106+3843… XM_011525372.2:c.106+3843_106+3849del	N/A	Intron Variant
USP32 transcript variant X3	XM_011525373.2:c.	N/A	Genic Upstream Transcript Variant
USP32 transcript variant X4	XM_011525374.2:c.	N/A	Genic Upstream Transcript Variant
USP32 transcript variant X5	XM_011525375.2:c.	N/A	Genic Upstream Transcript Variant
USP32 transcript variant X6	XM_011525376.2:c.	N/A	Genic Upstream Transcript Variant
USP32 transcript variant X8	XM_011525378.2:c.	N/A	Genic Upstream Transcript Variant
USP32 transcript variant X11	XM_011525379.4:c.	N/A	Genic Upstream Transcript Variant
USP32 transcript variant X9	XM_017025233.2:c.	N/A	Genic Upstream Transcript Variant
USP32 transcript variant X7	XM_047436943.1:c.	N/A	Genic Upstream Transcript Variant
USP32 transcript variant X10	XM_047436944.1:c.	N/A	Genic Upstream Transcript Variant
USP32 transcript variant X12	XM_047436945.1:c.	N/A	Genic Upstream Transcript Variant

Gene: LOC105371850, uncharacterized LOC105371850 (minus strand) : 2KB Upstream Variant

Molecule type	Change	Amino acid[Codon]	SO Term
LOC105371850 transcript variant X2	XR_934893.3:n.	N/A	Upstream Transcript Variant
LOC105371850 transcript variant X1	XR_007065870.1:n.	N/A	N/A

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)₂₀=	del(T)₇	del(T)₄	delTT	delT	dupT	dupTT	dupTTT	dup(T)₄	dup(T)₅	dup(T)₆	dup(T)₇	dup(T)₈	dup(T)₉
GRCh38.p14 chr 17	NC_000017.11:g.60418397_60418416=	NC_000017.11:g.60418410_60418416del	NC_000017.11:g.60418413_60418416del	NC_000017.11:g.60418415_60418416del	NC_000017.11:g.60418416del	NC_000017.11:g.60418416dup	NC_000017.11:g.60418415_60418416dup	NC_000017.11:g.60418414_60418416dup	NC_000017.11:g.60418413_60418416dup	NC_000017.11:g.60418412_60418416dup	NC_000017.11:g.60418411_60418416dup	NC_000017.11:g.60418410_60418416dup	NC_000017.11:g.60418409_60418416dup	NC_000017.11:g.60418408_60418416dup
GRCh37.p13 chr 17	NC_000017.10:g.58495758_58495777=	NC_000017.10:g.58495771_58495777del	NC_000017.10:g.58495774_58495777del	NC_000017.10:g.58495776_58495777del	NC_000017.10:g.58495777del	NC_000017.10:g.58495777dup	NC_000017.10:g.58495776_58495777dup	NC_000017.10:g.58495775_58495777dup	NC_000017.10:g.58495774_58495777dup	NC_000017.10:g.58495773_58495777dup	NC_000017.10:g.58495772_58495777dup	NC_000017.10:g.58495771_58495777dup	NC_000017.10:g.58495770_58495777dup	NC_000017.10:g.58495769_58495777dup
USP32 transcript variant X1	XM_011525371.2:c.106+3849=	XM_011525371.2:c.106+3843_106+3849del	XM_011525371.2:c.106+3846_106+3849del	XM_011525371.2:c.106+3848_106+3849del	XM_011525371.2:c.106+3849del	XM_011525371.2:c.106+3849dup	XM_011525371.2:c.106+3848_106+3849dup	XM_011525371.2:c.106+3847_106+3849dup	XM_011525371.2:c.106+3846_106+3849dup	XM_011525371.2:c.106+3845_106+3849dup	XM_011525371.2:c.106+3844_106+3849dup	XM_011525371.2:c.106+3843_106+3849dup	XM_011525371.2:c.106+3842_106+3849dup	XM_011525371.2:c.106+3841_106+3849dup
USP32 transcript variant X2	XM_011525372.2:c.106+3849=	XM_011525372.2:c.106+3843_106+3849del	XM_011525372.2:c.106+3846_106+3849del	XM_011525372.2:c.106+3848_106+3849del	XM_011525372.2:c.106+3849del	XM_011525372.2:c.106+3849dup	XM_011525372.2:c.106+3848_106+3849dup	XM_011525372.2:c.106+3847_106+3849dup	XM_011525372.2:c.106+3846_106+3849dup	XM_011525372.2:c.106+3845_106+3849dup	XM_011525372.2:c.106+3844_106+3849dup	XM_011525372.2:c.106+3843_106+3849dup	XM_011525372.2:c.106+3842_106+3849dup	XM_011525372.2:c.106+3841_106+3849dup

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#.

36 SubSNP, 23 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	1000GENOMES	ss1376800656	Aug 21, 2014 (142)
2	EVA_GENOME_DK	ss1575069499	Apr 01, 2015 (144)
3	SWEGEN	ss3015733444	Nov 08, 2017 (151)
4	MCHAISSO	ss3065656907	Nov 08, 2017 (151)
5	KHV_HUMAN_GENOMES	ss3820072795	Jul 13, 2019 (153)
6	EVA	ss3834926106	Apr 27, 2020 (154)
7	GNOMAD	ss4313756437	Apr 27, 2021 (155)
8	GNOMAD	ss4313756438	Apr 27, 2021 (155)
9	GNOMAD	ss4313756439	Apr 27, 2021 (155)
10	GNOMAD	ss4313756440	Apr 27, 2021 (155)
11	GNOMAD	ss4313756441	Apr 27, 2021 (155)
12	GNOMAD	ss4313756442	Apr 27, 2021 (155)
13	GNOMAD	ss4313756443	Apr 27, 2021 (155)
14	GNOMAD	ss4313756444	Apr 27, 2021 (155)
15	GNOMAD	ss4313756445	Apr 27, 2021 (155)
16	GNOMAD	ss4313756446	Apr 27, 2021 (155)
17	GNOMAD	ss4313756447	Apr 27, 2021 (155)
18	GNOMAD	ss4313756448	Apr 27, 2021 (155)
19	GNOMAD	ss4313756449	Apr 27, 2021 (155)
20	TOPMED	ss5040206068	Apr 27, 2021 (155)
21	TOMMO_GENOMICS	ss5222987345	Apr 27, 2021 (155)
22	TOMMO_GENOMICS	ss5222987346	Apr 27, 2021 (155)
23	TOMMO_GENOMICS	ss5222987347	Apr 27, 2021 (155)
24	1000G_HIGH_COVERAGE	ss5303556815	Oct 16, 2022 (156)
25	1000G_HIGH_COVERAGE	ss5303556816	Oct 16, 2022 (156)
26	1000G_HIGH_COVERAGE	ss5303556817	Oct 16, 2022 (156)
27	1000G_HIGH_COVERAGE	ss5303556818	Oct 16, 2022 (156)
28	1000G_HIGH_COVERAGE	ss5303556819	Oct 16, 2022 (156)
29	HUGCELL_USP	ss5496559977	Oct 16, 2022 (156)
30	HUGCELL_USP	ss5496559978	Oct 16, 2022 (156)
31	HUGCELL_USP	ss5496559979	Oct 16, 2022 (156)
32	HUGCELL_USP	ss5496559980	Oct 16, 2022 (156)
33	HUGCELL_USP	ss5496559981	Oct 16, 2022 (156)
34	TOMMO_GENOMICS	ss5779374586	Oct 16, 2022 (156)
35	TOMMO_GENOMICS	ss5779374587	Oct 16, 2022 (156)
36	TOMMO_GENOMICS	ss5779374589	Oct 16, 2022 (156)
37	1000Genomes	NC_000017.10 - 58495758	Oct 12, 2018 (152)
38	The Danish reference pan genome	NC_000017.10 - 58495758	Apr 27, 2020 (154)
39	gnomAD - Genomes Submission ignored due to conflicting rows: Row 510808819 (NC_000017.11:60418396::T 16167/108976) Row 510808820 (NC_000017.11:60418396::TT 5483/108940) Row 510808821 (NC_000017.11:60418396::TTT 1044/109014)...	-	Apr 27, 2021 (155)
40	gnomAD - Genomes Submission ignored due to conflicting rows: Row 510808819 (NC_000017.11:60418396::T 16167/108976) Row 510808820 (NC_000017.11:60418396::TT 5483/108940) Row 510808821 (NC_000017.11:60418396::TTT 1044/109014)...	-	Apr 27, 2021 (155)
41	gnomAD - Genomes Submission ignored due to conflicting rows: Row 510808819 (NC_000017.11:60418396::T 16167/108976) Row 510808820 (NC_000017.11:60418396::TT 5483/108940) Row 510808821 (NC_000017.11:60418396::TTT 1044/109014)...	-	Apr 27, 2021 (155)
42	gnomAD - Genomes Submission ignored due to conflicting rows: Row 510808819 (NC_000017.11:60418396::T 16167/108976) Row 510808820 (NC_000017.11:60418396::TT 5483/108940) Row 510808821 (NC_000017.11:60418396::TTT 1044/109014)...	-	Apr 27, 2021 (155)
43	gnomAD - Genomes Submission ignored due to conflicting rows: Row 510808819 (NC_000017.11:60418396::T 16167/108976) Row 510808820 (NC_000017.11:60418396::TT 5483/108940) Row 510808821 (NC_000017.11:60418396::TTT 1044/109014)...	-	Apr 27, 2021 (155)
44	gnomAD - Genomes Submission ignored due to conflicting rows: Row 510808819 (NC_000017.11:60418396::T 16167/108976) Row 510808820 (NC_000017.11:60418396::TT 5483/108940) Row 510808821 (NC_000017.11:60418396::TTT 1044/109014)...	-	Apr 27, 2021 (155)
45	gnomAD - Genomes Submission ignored due to conflicting rows: Row 510808819 (NC_000017.11:60418396::T 16167/108976) Row 510808820 (NC_000017.11:60418396::TT 5483/108940) Row 510808821 (NC_000017.11:60418396::TTT 1044/109014)...	-	Apr 27, 2021 (155)
46	gnomAD - Genomes Submission ignored due to conflicting rows: Row 510808819 (NC_000017.11:60418396::T 16167/108976) Row 510808820 (NC_000017.11:60418396::TT 5483/108940) Row 510808821 (NC_000017.11:60418396::TTT 1044/109014)...	-	Apr 27, 2021 (155)
47	gnomAD - Genomes Submission ignored due to conflicting rows: Row 510808819 (NC_000017.11:60418396::T 16167/108976) Row 510808820 (NC_000017.11:60418396::TT 5483/108940) Row 510808821 (NC_000017.11:60418396::TTT 1044/109014)...	-	Apr 27, 2021 (155)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 510808819 (NC_000017.11:60418396::T 16167/108976) Row 510808820 (NC_000017.11:60418396::TT 5483/108940) Row 510808821 (NC_000017.11:60418396::TTT 1044/109014)...	-	Apr 27, 2021 (155)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 510808819 (NC_000017.11:60418396::T 16167/108976) Row 510808820 (NC_000017.11:60418396::TT 5483/108940) Row 510808821 (NC_000017.11:60418396::TTT 1044/109014)...	-	Apr 27, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 510808819 (NC_000017.11:60418396::T 16167/108976) Row 510808820 (NC_000017.11:60418396::TT 5483/108940) Row 510808821 (NC_000017.11:60418396::TTT 1044/109014)...	-	Apr 27, 2021 (155)
51	gnomAD - Genomes Submission ignored due to conflicting rows: Row 510808819 (NC_000017.11:60418396::T 16167/108976) Row 510808820 (NC_000017.11:60418396::TT 5483/108940) Row 510808821 (NC_000017.11:60418396::TTT 1044/109014)...	-	Apr 27, 2021 (155)
52	8.3KJPN Submission ignored due to conflicting rows: Row 80956652 (NC_000017.10:58495757:T: 45/16758) Row 80956653 (NC_000017.10:58495757::T 109/16758) Row 80956654 (NC_000017.10:58495757:TTTT: 7/16758)	-	Apr 27, 2021 (155)
53	8.3KJPN Submission ignored due to conflicting rows: Row 80956652 (NC_000017.10:58495757:T: 45/16758) Row 80956653 (NC_000017.10:58495757::T 109/16758) Row 80956654 (NC_000017.10:58495757:TTTT: 7/16758)	-	Apr 27, 2021 (155)
54	8.3KJPN Submission ignored due to conflicting rows: Row 80956652 (NC_000017.10:58495757:T: 45/16758) Row 80956653 (NC_000017.10:58495757::T 109/16758) Row 80956654 (NC_000017.10:58495757:TTTT: 7/16758)	-	Apr 27, 2021 (155)
55	14KJPN Submission ignored due to conflicting rows: Row 113211690 (NC_000017.11:60418396:T: 63/28258) Row 113211691 (NC_000017.11:60418396::T 190/28258) Row 113211693 (NC_000017.11:60418396:TTTT: 11/28258)	-	Oct 16, 2022 (156)
56	14KJPN Submission ignored due to conflicting rows: Row 113211690 (NC_000017.11:60418396:T: 63/28258) Row 113211691 (NC_000017.11:60418396::T 190/28258) Row 113211693 (NC_000017.11:60418396:TTTT: 11/28258)	-	Oct 16, 2022 (156)
57	14KJPN Submission ignored due to conflicting rows: Row 113211690 (NC_000017.11:60418396:T: 63/28258) Row 113211691 (NC_000017.11:60418396::T 190/28258) Row 113211693 (NC_000017.11:60418396:TTTT: 11/28258)	-	Oct 16, 2022 (156)
58	TopMed	NC_000017.11 - 60418397	Apr 27, 2021 (155)
59	ALFA	NC_000017.11 - 60418397	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
255751730, ss4313756449, ss5040206068	NC_000017.11:60418396:TTTTTTT:	NC_000017.11:60418396:TTTTTTTTTTTT… NC_000017.11:60418396:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
3679939672	NC_000017.11:60418396:TTTTTTTTTTTT… NC_000017.11:60418396:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	NC_000017.11:60418396:TTTTTTTTTTTT… NC_000017.11:60418396:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss5222987347	NC_000017.10:58495757:TTTT:	NC_000017.11:60418396:TTTTTTTTTTTT… NC_000017.11:60418396:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss4313756448, ss5779374589	NC_000017.11:60418396:TTTT:	NC_000017.11:60418396:TTTTTTTTTTTT… NC_000017.11:60418396:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
3679939672	NC_000017.11:60418396:TTTTTTTTTTTT… NC_000017.11:60418396:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	NC_000017.11:60418396:TTTTTTTTTTTT… NC_000017.11:60418396:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss4313756447, ss5496559979	NC_000017.11:60418396:TT:	NC_000017.11:60418396:TTTTTTTTTTTT… NC_000017.11:60418396:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
3679939672	NC_000017.11:60418396:TTTTTTTTTTTT… NC_000017.11:60418396:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	NC_000017.11:60418396:TTTTTTTTTTTT… NC_000017.11:60418396:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
72387468, ss1376800656, ss3015733444, ss5222987345	NC_000017.10:58495757:T:	NC_000017.11:60418396:TTTTTTTTTTTT… NC_000017.11:60418396:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss3820072795, ss4313756446, ss5303556817, ss5496559978, ss5779374586	NC_000017.11:60418396:T:	NC_000017.11:60418396:TTTTTTTTTTTT… NC_000017.11:60418396:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
3679939672	NC_000017.11:60418396:TTTTTTTTTTTT… NC_000017.11:60418396:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	NC_000017.11:60418396:TTTTTTTTTTTT… NC_000017.11:60418396:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
569461, ss1575069499, ss3834926106, ss5222987346	NC_000017.10:58495757::T	NC_000017.11:60418396:TTTTTTTTTTTT… NC_000017.11:60418396:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss4313756437, ss5303556815, ss5496559977, ss5779374587	NC_000017.11:60418396::T	NC_000017.11:60418396:TTTTTTTTTTTT… NC_000017.11:60418396:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
3679939672	NC_000017.11:60418396:TTTTTTTTTTTT… NC_000017.11:60418396:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	NC_000017.11:60418396:TTTTTTTTTTTT… NC_000017.11:60418396:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss4313756438, ss5303556818, ss5496559980	NC_000017.11:60418396::TT	NC_000017.11:60418396:TTTTTTTTTTTT… NC_000017.11:60418396:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
3679939672	NC_000017.11:60418396:TTTTTTTTTTTT… NC_000017.11:60418396:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	NC_000017.11:60418396:TTTTTTTTTTTT… NC_000017.11:60418396:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss4313756439, ss5303556816, ss5496559981	NC_000017.11:60418396::TTT	NC_000017.11:60418396:TTTTTTTTTTTT… NC_000017.11:60418396:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
3679939672	NC_000017.11:60418396:TTTTTTTTTTTT… NC_000017.11:60418396:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	NC_000017.11:60418396:TTTTTTTTTTTT… NC_000017.11:60418396:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4313756440, ss5303556819	NC_000017.11:60418396::TTTT	NC_000017.11:60418396:TTTTTTTTTTTT… NC_000017.11:60418396:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
3679939672	NC_000017.11:60418396:TTTTTTTTTTTT… NC_000017.11:60418396:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	NC_000017.11:60418396:TTTTTTTTTTTT… NC_000017.11:60418396:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4313756441	NC_000017.11:60418396::TTTTT	NC_000017.11:60418396:TTTTTTTTTTTT… NC_000017.11:60418396:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
3679939672	NC_000017.11:60418396:TTTTTTTTTTTT… NC_000017.11:60418396:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	NC_000017.11:60418396:TTTTTTTTTTTT… NC_000017.11:60418396:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4313756442	NC_000017.11:60418396::TTTTTT	NC_000017.11:60418396:TTTTTTTTTTTT… NC_000017.11:60418396:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4313756443	NC_000017.11:60418396::TTTTTTT	NC_000017.11:60418396:TTTTTTTTTTTT… NC_000017.11:60418396:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
3679939672	NC_000017.11:60418396:TTTTTTTTTTTT… NC_000017.11:60418396:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000017.11:60418396:TTTTTTTTTTTT… NC_000017.11:60418396:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3065656907, ss4313756444	NC_000017.11:60418396::TTTTTTTT	NC_000017.11:60418396:TTTTTTTTTTTT… NC_000017.11:60418396:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4313756445	NC_000017.11:60418396::TTTTTTTTT	NC_000017.11:60418396:TTTTTTTTTTTT… NC_000017.11:60418396:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(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 rs569143215

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

rs569143215