Name: rs200558658
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.

rs200558658

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr3:196751742-196751761 (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)₆ / del(T)₅ / del(…
del(T)₇ / del(T)₆ / del(T)₅ / del(T)₄ / delTTT / delTT / delT / dupT / dupTT / dupTTT / dup(T)₄ / dup(T)₅
Variation Type: Indel Insertion and Deletion
Frequency: del(T)₄=0.1883 (1247/6624, ALFA)
del(T)₄=0.4487 (2247/5008, 1000G)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: PAK2 : 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	6624	TTTTTTTTTTTTTTTTTTTT=0.7742	TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.1883, TTTTTTTTTTTTTTTTTT=0.0160, TTTTTTTTTTTTTTTTTTT=0.0196, TTTTTTTTTTTTTTTTTTTTT=0.0014, TTTTTTTTTTTTTTTTT=0.0006, TTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTT=0.0000	0.724127	0.10414	0.171734	32
European	Sub	5784	TTTTTTTTTTTTTTTTTTTT=0.7422	TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.2151, TTTTTTTTTTTTTTTTTT=0.0183, TTTTTTTTTTTTTTTTTTT=0.0221, TTTTTTTTTTTTTTTTTTTTT=0.0016, TTTTTTTTTTTTTTTTT=0.0007, TTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTT=0.0000	0.681631	0.12009	0.198279	32
African	Sub	392	TTTTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
African Others	Sub	14	TTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
African American	Sub	378	TTTTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
Asian	Sub	62	TTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	42	TTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	20	TTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	36	TTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	214	TTTTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	24	TTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other	Sub	112	TTTTTTTTTTTTTTTTTTTT=0.955	TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.027, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.018, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000	0.963636	0.018182	0.018182	13

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	6624	(T)₂₀=0.7742	del(T)₇=0.0000, del(T)₆=0.0000, del(T)₅=0.0000, del(T)₄=0.1883, delTTT=0.0006, delTT=0.0160, delT=0.0196, dupT=0.0014, dupTT=0.0000, dupTTT=0.0000, dup(T)₄=0.0000
Allele Frequency Aggregator	European	Sub	5784	(T)₂₀=0.7422	del(T)₇=0.0000, del(T)₆=0.0000, del(T)₅=0.0000, del(T)₄=0.2151, delTTT=0.0007, delTT=0.0183, delT=0.0221, dupT=0.0016, dupTT=0.0000, dupTTT=0.0000, dup(T)₄=0.0000
Allele Frequency Aggregator	African	Sub	392	(T)₂₀=1.000	del(T)₇=0.000, del(T)₆=0.000, del(T)₅=0.000, 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
Allele Frequency Aggregator	Latin American 2	Sub	214	(T)₂₀=1.000	del(T)₇=0.000, del(T)₆=0.000, del(T)₅=0.000, 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
Allele Frequency Aggregator	Other	Sub	112	(T)₂₀=0.955	del(T)₇=0.000, del(T)₆=0.000, del(T)₅=0.000, del(T)₄=0.027, delTTT=0.000, delTT=0.000, delT=0.018, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₄=0.000
Allele Frequency Aggregator	Asian	Sub	62	(T)₂₀=1.00	del(T)₇=0.00, del(T)₆=0.00, del(T)₅=0.00, 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
Allele Frequency Aggregator	Latin American 1	Sub	36	(T)₂₀=1.00	del(T)₇=0.00, del(T)₆=0.00, del(T)₅=0.00, 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
Allele Frequency Aggregator	South Asian	Sub	24	(T)₂₀=1.00	del(T)₇=0.00, del(T)₆=0.00, del(T)₅=0.00, 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
1000Genomes	Global	Study-wide	5008	(T)₂₀=0.5513	del(T)₄=0.4487
1000Genomes	African	Sub	1322	(T)₂₀=0.5204	del(T)₄=0.4796
1000Genomes	East Asian	Sub	1008	(T)₂₀=0.7867	del(T)₄=0.2133
1000Genomes	Europe	Sub	1006	(T)₂₀=0.4016	del(T)₄=0.5984
1000Genomes	South Asian	Sub	978	(T)₂₀=0.522	del(T)₄=0.478
1000Genomes	American	Sub	694	(T)₂₀=0.526	del(T)₄=0.474

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 3	NC_000003.12:g.196751755_196751761del
GRCh38.p14 chr 3	NC_000003.12:g.196751756_196751761del
GRCh38.p14 chr 3	NC_000003.12:g.196751757_196751761del
GRCh38.p14 chr 3	NC_000003.12:g.196751758_196751761del
GRCh38.p14 chr 3	NC_000003.12:g.196751759_196751761del
GRCh38.p14 chr 3	NC_000003.12:g.196751760_196751761del
GRCh38.p14 chr 3	NC_000003.12:g.196751761del
GRCh38.p14 chr 3	NC_000003.12:g.196751761dup
GRCh38.p14 chr 3	NC_000003.12:g.196751760_196751761dup
GRCh38.p14 chr 3	NC_000003.12:g.196751759_196751761dup
GRCh38.p14 chr 3	NC_000003.12:g.196751758_196751761dup
GRCh38.p14 chr 3	NC_000003.12:g.196751757_196751761dup
GRCh37.p13 chr 3	NC_000003.11:g.196478626_196478632del
GRCh37.p13 chr 3	NC_000003.11:g.196478627_196478632del
GRCh37.p13 chr 3	NC_000003.11:g.196478628_196478632del
GRCh37.p13 chr 3	NC_000003.11:g.196478629_196478632del
GRCh37.p13 chr 3	NC_000003.11:g.196478630_196478632del
GRCh37.p13 chr 3	NC_000003.11:g.196478631_196478632del
GRCh37.p13 chr 3	NC_000003.11:g.196478632del
GRCh37.p13 chr 3	NC_000003.11:g.196478632dup
GRCh37.p13 chr 3	NC_000003.11:g.196478631_196478632dup
GRCh37.p13 chr 3	NC_000003.11:g.196478630_196478632dup
GRCh37.p13 chr 3	NC_000003.11:g.196478629_196478632dup
GRCh37.p13 chr 3	NC_000003.11:g.196478628_196478632dup
PAK2 RefSeqGene	NG_009227.1:g.16899_16905del
PAK2 RefSeqGene	NG_009227.1:g.16900_16905del
PAK2 RefSeqGene	NG_009227.1:g.16901_16905del
PAK2 RefSeqGene	NG_009227.1:g.16902_16905del
PAK2 RefSeqGene	NG_009227.1:g.16903_16905del
PAK2 RefSeqGene	NG_009227.1:g.16904_16905del
PAK2 RefSeqGene	NG_009227.1:g.16905del
PAK2 RefSeqGene	NG_009227.1:g.16905dup
PAK2 RefSeqGene	NG_009227.1:g.16904_16905dup
PAK2 RefSeqGene	NG_009227.1:g.16903_16905dup
PAK2 RefSeqGene	NG_009227.1:g.16902_16905dup
PAK2 RefSeqGene	NG_009227.1:g.16901_16905dup

Gene: PAK2, p21 (RAC1) activated kinase 2 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
PAK2 transcript	NM_002577.4:c.-22+11598_-… NM_002577.4:c.-22+11598_-22+11604del	N/A	Intron Variant
PAK2 transcript variant X1	XM_011512870.3:c.	N/A	Genic Upstream Transcript Variant
PAK2 transcript variant X2	XM_047448218.1:c.	N/A	Genic Upstream Transcript Variant
PAK2 transcript variant X3	XM_047448219.1:c.	N/A	Genic Upstream 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)₂₀=	del(T)₇	del(T)₆	del(T)₅	del(T)₄	delTTT	delTT	delT	dupT	dupTT	dupTTT	dup(T)₄	dup(T)₅
GRCh38.p14 chr 3	NC_000003.12:g.196751742_196751761=	NC_000003.12:g.196751755_196751761del	NC_000003.12:g.196751756_196751761del	NC_000003.12:g.196751757_196751761del	NC_000003.12:g.196751758_196751761del	NC_000003.12:g.196751759_196751761del	NC_000003.12:g.196751760_196751761del	NC_000003.12:g.196751761del	NC_000003.12:g.196751761dup	NC_000003.12:g.196751760_196751761dup	NC_000003.12:g.196751759_196751761dup	NC_000003.12:g.196751758_196751761dup	NC_000003.12:g.196751757_196751761dup
GRCh37.p13 chr 3	NC_000003.11:g.196478613_196478632=	NC_000003.11:g.196478626_196478632del	NC_000003.11:g.196478627_196478632del	NC_000003.11:g.196478628_196478632del	NC_000003.11:g.196478629_196478632del	NC_000003.11:g.196478630_196478632del	NC_000003.11:g.196478631_196478632del	NC_000003.11:g.196478632del	NC_000003.11:g.196478632dup	NC_000003.11:g.196478631_196478632dup	NC_000003.11:g.196478630_196478632dup	NC_000003.11:g.196478629_196478632dup	NC_000003.11:g.196478628_196478632dup
PAK2 RefSeqGene	NG_009227.1:g.16886_16905=	NG_009227.1:g.16899_16905del	NG_009227.1:g.16900_16905del	NG_009227.1:g.16901_16905del	NG_009227.1:g.16902_16905del	NG_009227.1:g.16903_16905del	NG_009227.1:g.16904_16905del	NG_009227.1:g.16905del	NG_009227.1:g.16905dup	NG_009227.1:g.16904_16905dup	NG_009227.1:g.16903_16905dup	NG_009227.1:g.16902_16905dup	NG_009227.1:g.16901_16905dup
PAK2 transcript	NM_002577.4:c.-22+11585=	NM_002577.4:c.-22+11598_-22+11604del	NM_002577.4:c.-22+11599_-22+11604del	NM_002577.4:c.-22+11600_-22+11604del	NM_002577.4:c.-22+11601_-22+11604del	NM_002577.4:c.-22+11602_-22+11604del	NM_002577.4:c.-22+11603_-22+11604del	NM_002577.4:c.-22+11604del	NM_002577.4:c.-22+11604dup	NM_002577.4:c.-22+11603_-22+11604dup	NM_002577.4:c.-22+11602_-22+11604dup	NM_002577.4:c.-22+11601_-22+11604dup	NM_002577.4:c.-22+11600_-22+11604dup
PAK2 transcript variant X1	XM_005269341.1:c.-22+11585=	XM_005269341.1:c.-22+11598_-22+11604del	XM_005269341.1:c.-22+11599_-22+11604del	XM_005269341.1:c.-22+11600_-22+11604del	XM_005269341.1:c.-22+11601_-22+11604del	XM_005269341.1:c.-22+11602_-22+11604del	XM_005269341.1:c.-22+11603_-22+11604del	XM_005269341.1:c.-22+11604del	XM_005269341.1:c.-22+11604dup	XM_005269341.1:c.-22+11603_-22+11604dup	XM_005269341.1:c.-22+11602_-22+11604dup	XM_005269341.1:c.-22+11601_-22+11604dup	XM_005269341.1:c.-22+11600_-22+11604dup

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, 28 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	GMI	ss288472277	May 04, 2012 (137)
2	1000GENOMES	ss1371580103	Aug 21, 2014 (142)
3	SWEGEN	ss2993944036	Nov 08, 2017 (151)
4	URBANLAB	ss3647627116	Oct 12, 2018 (152)
5	EVA_DECODE	ss3711187050	Jul 13, 2019 (153)
6	EVA_DECODE	ss3711187051	Jul 13, 2019 (153)
7	EVA_DECODE	ss3711187052	Jul 13, 2019 (153)
8	EVA_DECODE	ss3711187053	Jul 13, 2019 (153)
9	EVA_DECODE	ss3711187054	Jul 13, 2019 (153)
10	EVA_DECODE	ss3711187055	Jul 13, 2019 (153)
11	KHV_HUMAN_GENOMES	ss3804396069	Jul 13, 2019 (153)
12	EVA	ss3828314932	Apr 25, 2020 (154)
13	KOGIC	ss3953300990	Apr 25, 2020 (154)
14	KOGIC	ss3953300991	Apr 25, 2020 (154)
15	KOGIC	ss3953300992	Apr 25, 2020 (154)
16	KOGIC	ss3953300993	Apr 25, 2020 (154)
17	GNOMAD	ss4088798895	Apr 26, 2021 (155)
18	GNOMAD	ss4088798896	Apr 26, 2021 (155)
19	GNOMAD	ss4088798897	Apr 26, 2021 (155)
20	GNOMAD	ss4088798898	Apr 26, 2021 (155)
21	GNOMAD	ss4088798899	Apr 26, 2021 (155)
22	GNOMAD	ss4088798900	Apr 26, 2021 (155)
23	GNOMAD	ss4088798901	Apr 26, 2021 (155)
24	GNOMAD	ss4088798902	Apr 26, 2021 (155)
25	GNOMAD	ss4088798903	Apr 26, 2021 (155)
26	GNOMAD	ss4088798904	Apr 26, 2021 (155)
27	GNOMAD	ss4088798905	Apr 26, 2021 (155)
28	GNOMAD	ss4088798906	Apr 26, 2021 (155)
29	TOMMO_GENOMICS	ss5163681346	Apr 26, 2021 (155)
30	TOMMO_GENOMICS	ss5163681347	Apr 26, 2021 (155)
31	TOMMO_GENOMICS	ss5163681348	Apr 26, 2021 (155)
32	TOMMO_GENOMICS	ss5163681349	Apr 26, 2021 (155)
33	TOMMO_GENOMICS	ss5163681350	Apr 26, 2021 (155)
34	HUGCELL_USP	ss5456621795	Oct 13, 2022 (156)
35	HUGCELL_USP	ss5456621796	Oct 13, 2022 (156)
36	HUGCELL_USP	ss5456621797	Oct 13, 2022 (156)
37	HUGCELL_USP	ss5456621798	Oct 13, 2022 (156)
38	TOMMO_GENOMICS	ss5697177489	Oct 13, 2022 (156)
39	TOMMO_GENOMICS	ss5697177490	Oct 13, 2022 (156)
40	TOMMO_GENOMICS	ss5697177492	Oct 13, 2022 (156)
41	TOMMO_GENOMICS	ss5697177493	Oct 13, 2022 (156)
42	TOMMO_GENOMICS	ss5697177494	Oct 13, 2022 (156)
43	1000Genomes	NC_000003.11 - 196478613	Oct 12, 2018 (152)
44	gnomAD - Genomes Submission ignored due to conflicting rows: Row 137185935 (NC_000003.12:196751741::T 473/72496) Row 137185936 (NC_000003.12:196751741::TT 939/72486) Row 137185937 (NC_000003.12:196751741::TTT 38/72508)...	-	Apr 26, 2021 (155)
45	gnomAD - Genomes Submission ignored due to conflicting rows: Row 137185935 (NC_000003.12:196751741::T 473/72496) Row 137185936 (NC_000003.12:196751741::TT 939/72486) Row 137185937 (NC_000003.12:196751741::TTT 38/72508)...	-	Apr 26, 2021 (155)
46	gnomAD - Genomes Submission ignored due to conflicting rows: Row 137185935 (NC_000003.12:196751741::T 473/72496) Row 137185936 (NC_000003.12:196751741::TT 939/72486) Row 137185937 (NC_000003.12:196751741::TTT 38/72508)...	-	Apr 26, 2021 (155)
47	gnomAD - Genomes Submission ignored due to conflicting rows: Row 137185935 (NC_000003.12:196751741::T 473/72496) Row 137185936 (NC_000003.12:196751741::TT 939/72486) Row 137185937 (NC_000003.12:196751741::TTT 38/72508)...	-	Apr 26, 2021 (155)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 137185935 (NC_000003.12:196751741::T 473/72496) Row 137185936 (NC_000003.12:196751741::TT 939/72486) Row 137185937 (NC_000003.12:196751741::TTT 38/72508)...	-	Apr 26, 2021 (155)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 137185935 (NC_000003.12:196751741::T 473/72496) Row 137185936 (NC_000003.12:196751741::TT 939/72486) Row 137185937 (NC_000003.12:196751741::TTT 38/72508)...	-	Apr 26, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 137185935 (NC_000003.12:196751741::T 473/72496) Row 137185936 (NC_000003.12:196751741::TT 939/72486) Row 137185937 (NC_000003.12:196751741::TTT 38/72508)...	-	Apr 26, 2021 (155)
51	gnomAD - Genomes Submission ignored due to conflicting rows: Row 137185935 (NC_000003.12:196751741::T 473/72496) Row 137185936 (NC_000003.12:196751741::TT 939/72486) Row 137185937 (NC_000003.12:196751741::TTT 38/72508)...	-	Apr 26, 2021 (155)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 137185935 (NC_000003.12:196751741::T 473/72496) Row 137185936 (NC_000003.12:196751741::TT 939/72486) Row 137185937 (NC_000003.12:196751741::TTT 38/72508)...	-	Apr 26, 2021 (155)
53	gnomAD - Genomes Submission ignored due to conflicting rows: Row 137185935 (NC_000003.12:196751741::T 473/72496) Row 137185936 (NC_000003.12:196751741::TT 939/72486) Row 137185937 (NC_000003.12:196751741::TTT 38/72508)...	-	Apr 26, 2021 (155)
54	gnomAD - Genomes Submission ignored due to conflicting rows: Row 137185935 (NC_000003.12:196751741::T 473/72496) Row 137185936 (NC_000003.12:196751741::TT 939/72486) Row 137185937 (NC_000003.12:196751741::TTT 38/72508)...	-	Apr 26, 2021 (155)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 137185935 (NC_000003.12:196751741::T 473/72496) Row 137185936 (NC_000003.12:196751741::TT 939/72486) Row 137185937 (NC_000003.12:196751741::TTT 38/72508)...	-	Apr 26, 2021 (155)
56	Korean Genome Project Submission ignored due to conflicting rows: Row 9678991 (NC_000003.12:196751742:TTTT: 274/1780) Row 9678992 (NC_000003.12:196751745:T: 114/1780) Row 9678993 (NC_000003.12:196751746::T 126/1780)...	-	Apr 25, 2020 (154)
57	Korean Genome Project Submission ignored due to conflicting rows: Row 9678991 (NC_000003.12:196751742:TTTT: 274/1780) Row 9678992 (NC_000003.12:196751745:T: 114/1780) Row 9678993 (NC_000003.12:196751746::T 126/1780)...	-	Apr 25, 2020 (154)
58	Korean Genome Project Submission ignored due to conflicting rows: Row 9678991 (NC_000003.12:196751742:TTTT: 274/1780) Row 9678992 (NC_000003.12:196751745:T: 114/1780) Row 9678993 (NC_000003.12:196751746::T 126/1780)...	-	Apr 25, 2020 (154)
59	Korean Genome Project Submission ignored due to conflicting rows: Row 9678991 (NC_000003.12:196751742:TTTT: 274/1780) Row 9678992 (NC_000003.12:196751745:T: 114/1780) Row 9678993 (NC_000003.12:196751746::T 126/1780)...	-	Apr 25, 2020 (154)
60	8.3KJPN Submission ignored due to conflicting rows: Row 21650653 (NC_000003.11:196478612:TTTT: 4162/16654) Row 21650654 (NC_000003.11:196478612::T 176/16654) Row 21650655 (NC_000003.11:196478612:TTT: 69/16654)...	-	Apr 26, 2021 (155)
61	8.3KJPN Submission ignored due to conflicting rows: Row 21650653 (NC_000003.11:196478612:TTTT: 4162/16654) Row 21650654 (NC_000003.11:196478612::T 176/16654) Row 21650655 (NC_000003.11:196478612:TTT: 69/16654)...	-	Apr 26, 2021 (155)
62	8.3KJPN Submission ignored due to conflicting rows: Row 21650653 (NC_000003.11:196478612:TTTT: 4162/16654) Row 21650654 (NC_000003.11:196478612::T 176/16654) Row 21650655 (NC_000003.11:196478612:TTT: 69/16654)...	-	Apr 26, 2021 (155)
63	8.3KJPN Submission ignored due to conflicting rows: Row 21650653 (NC_000003.11:196478612:TTTT: 4162/16654) Row 21650654 (NC_000003.11:196478612::T 176/16654) Row 21650655 (NC_000003.11:196478612:TTT: 69/16654)...	-	Apr 26, 2021 (155)
64	8.3KJPN Submission ignored due to conflicting rows: Row 21650653 (NC_000003.11:196478612:TTTT: 4162/16654) Row 21650654 (NC_000003.11:196478612::T 176/16654) Row 21650655 (NC_000003.11:196478612:TTT: 69/16654)...	-	Apr 26, 2021 (155)
65	14KJPN Submission ignored due to conflicting rows: Row 31014593 (NC_000003.12:196751741:TTTT: 7361/28224) Row 31014594 (NC_000003.12:196751741::T 283/28224) Row 31014596 (NC_000003.12:196751741:TTT: 106/28224)...	-	Oct 13, 2022 (156)
66	14KJPN Submission ignored due to conflicting rows: Row 31014593 (NC_000003.12:196751741:TTTT: 7361/28224) Row 31014594 (NC_000003.12:196751741::T 283/28224) Row 31014596 (NC_000003.12:196751741:TTT: 106/28224)...	-	Oct 13, 2022 (156)
67	14KJPN Submission ignored due to conflicting rows: Row 31014593 (NC_000003.12:196751741:TTTT: 7361/28224) Row 31014594 (NC_000003.12:196751741::T 283/28224) Row 31014596 (NC_000003.12:196751741:TTT: 106/28224)...	-	Oct 13, 2022 (156)
68	14KJPN Submission ignored due to conflicting rows: Row 31014593 (NC_000003.12:196751741:TTTT: 7361/28224) Row 31014594 (NC_000003.12:196751741::T 283/28224) Row 31014596 (NC_000003.12:196751741:TTT: 106/28224)...	-	Oct 13, 2022 (156)
69	14KJPN Submission ignored due to conflicting rows: Row 31014593 (NC_000003.12:196751741:TTTT: 7361/28224) Row 31014594 (NC_000003.12:196751741::T 283/28224) Row 31014596 (NC_000003.12:196751741:TTT: 106/28224)...	-	Oct 13, 2022 (156)
70	ALFA	NC_000003.12 - 196751742	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
ss5163681350	NC_000003.11:196478612:TTTTTTT:	NC_000003.12:196751741:TTTTTTTTTTT… NC_000003.12:196751741:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss4088798906	NC_000003.12:196751741:TTTTTTT:	NC_000003.12:196751741:TTTTTTTTTTT… NC_000003.12:196751741:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
1200396285	NC_000003.12:196751741:TTTTTTTTTTT… NC_000003.12:196751741:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	NC_000003.12:196751741:TTTTTTTTTTT… NC_000003.12:196751741:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss4088798905, ss5456621798	NC_000003.12:196751741:TTTTTT:	NC_000003.12:196751741:TTTTTTTTTTT… NC_000003.12:196751741:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
1200396285	NC_000003.12:196751741:TTTTTTTTTTT… NC_000003.12:196751741:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	NC_000003.12:196751741:TTTTTTTTTTT… NC_000003.12:196751741:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss3711187050, ss3953300993, ss4088798904, ss5697177494	NC_000003.12:196751741:TTTTT:	NC_000003.12:196751741:TTTTTTTTTTT… NC_000003.12:196751741:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
1200396285	NC_000003.12:196751741:TTTTTTTTTTT… NC_000003.12:196751741:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	NC_000003.12:196751741:TTTTTTTTTTT… NC_000003.12:196751741:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
19323687, ss1371580103, ss2993944036, ss3828314932, ss5163681346	NC_000003.11:196478612:TTTT:	NC_000003.12:196751741:TTTTTTTTTTT… NC_000003.12:196751741:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss3647627116, ss3804396069, ss4088798903, ss5456621795, ss5697177489	NC_000003.12:196751741:TTTT:	NC_000003.12:196751741:TTTTTTTTTTT… NC_000003.12:196751741:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
1200396285	NC_000003.12:196751741:TTTTTTTTTTT… NC_000003.12:196751741:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	NC_000003.12:196751741:TTTTTTTTTTT… NC_000003.12:196751741:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss3711187051, ss3953300990	NC_000003.12:196751742:TTTT:	NC_000003.12:196751741:TTTTTTTTTTT… NC_000003.12:196751741:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss5163681348	NC_000003.11:196478612:TTT:	NC_000003.12:196751741:TTTTTTTTTTT… NC_000003.12:196751741:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss4088798902, ss5697177492	NC_000003.12:196751741:TTT:	NC_000003.12:196751741:TTTTTTTTTTT… NC_000003.12:196751741:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
1200396285	NC_000003.12:196751741:TTTTTTTTTTT… NC_000003.12:196751741:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	NC_000003.12:196751741:TTTTTTTTTTT… NC_000003.12:196751741:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss3711187052	NC_000003.12:196751743:TTT:	NC_000003.12:196751741:TTTTTTTTTTT… NC_000003.12:196751741:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss4088798901, ss5456621797	NC_000003.12:196751741:TT:	NC_000003.12:196751741:TTTTTTTTTTT… NC_000003.12:196751741:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
1200396285	NC_000003.12:196751741:TTTTTTTTTTT… NC_000003.12:196751741:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	NC_000003.12:196751741:TTTTTTTTTTT… NC_000003.12:196751741:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss3711187053	NC_000003.12:196751744:TT:	NC_000003.12:196751741:TTTTTTTTTTT… NC_000003.12:196751741:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss288472277	NC_000003.10:197963009:T:	NC_000003.12:196751741:TTTTTTTTTTT… NC_000003.12:196751741:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss5163681349	NC_000003.11:196478612:T:	NC_000003.12:196751741:TTTTTTTTTTT… NC_000003.12:196751741:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss4088798900, ss5456621796, ss5697177493	NC_000003.12:196751741:T:	NC_000003.12:196751741:TTTTTTTTTTT… NC_000003.12:196751741:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
1200396285	NC_000003.12:196751741:TTTTTTTTTTT… NC_000003.12:196751741:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	NC_000003.12:196751741:TTTTTTTTTTT… NC_000003.12:196751741:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss3711187054, ss3953300991	NC_000003.12:196751745:T:	NC_000003.12:196751741:TTTTTTTTTTT… NC_000003.12:196751741:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss5163681347	NC_000003.11:196478612::T	NC_000003.12:196751741:TTTTTTTTTTT… NC_000003.12:196751741:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss4088798895, ss5697177490	NC_000003.12:196751741::T	NC_000003.12:196751741:TTTTTTTTTTT… NC_000003.12:196751741:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
1200396285	NC_000003.12:196751741:TTTTTTTTTTT… NC_000003.12:196751741:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	NC_000003.12:196751741:TTTTTTTTTTT… NC_000003.12:196751741:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss3711187055, ss3953300992	NC_000003.12:196751746::T	NC_000003.12:196751741:TTTTTTTTTTT… NC_000003.12:196751741:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss4088798896	NC_000003.12:196751741::TT	NC_000003.12:196751741:TTTTTTTTTTT… NC_000003.12:196751741:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
1200396285	NC_000003.12:196751741:TTTTTTTTTTT… NC_000003.12:196751741:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	NC_000003.12:196751741:TTTTTTTTTTT… NC_000003.12:196751741:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss4088798897	NC_000003.12:196751741::TTT	NC_000003.12:196751741:TTTTTTTTTTT… NC_000003.12:196751741:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
1200396285	NC_000003.12:196751741:TTTTTTTTTTT… NC_000003.12:196751741:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	NC_000003.12:196751741:TTTTTTTTTTT… NC_000003.12:196751741:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4088798898	NC_000003.12:196751741::TTTT	NC_000003.12:196751741:TTTTTTTTTTT… NC_000003.12:196751741:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
1200396285	NC_000003.12:196751741:TTTTTTTTTTT… NC_000003.12:196751741:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	NC_000003.12:196751741:TTTTTTTTTTT… NC_000003.12:196751741:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4088798899	NC_000003.12:196751741::TTTTT	NC_000003.12:196751741:TTTTTTTTTTT… NC_000003.12:196751741:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(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 rs200558658

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

rs200558658