Name: rs142926805
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.

rs142926805

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr2:238229983-238230000 (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(A)₅ / del(A)₄ / delAAA / delAA…
del(A)₅ / del(A)₄ / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)₄ / dup(A)₅ / dup(A)₆ / dup(A)₇ / dup(A)₉
Variation Type: Indel Insertion and Deletion
Frequency: del(A)₅=0.0000 (0/6148, ALFA)
del(A)₄=0.0000 (0/6148, ALFA)
delAAA=0.0000 (0/6148, ALFA) (+ 12 more)
delAA=0.0000 (0/6148, ALFA)
delA=0.0000 (0/6148, ALFA)
dupA=0.0000 (0/6148, ALFA)
dupAA=0.0000 (0/6148, ALFA)
dupAAA=0.0000 (0/6148, ALFA)
dup(A)₄=0.0000 (0/6148, ALFA)
dup(A)₅=0.0000 (0/6148, ALFA)
dup(A)₆=0.0000 (0/6148, ALFA)
delAAA=0.1328 (665/5008, 1000G)
delAAA=0.0667 (257/3854, ALSPAC)
delAAA=0.0742 (275/3708, TWINSUK)
delAA=0.03 (1/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: LINC02610 : Intron Variant
TARDBPP3 : 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	HWEP
Total	Global	6148	AAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
European	Sub	4852	AAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
African	Sub	496	AAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A
African Others	Sub	8	AAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	N/A
African American	Sub	488	AAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A
Asian	Sub	74	AAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
East Asian	Sub	58	AAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Other Asian	Sub	16	AAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Latin American 1	Sub	90	AAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Latin American 2	Sub	390	AAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A
South Asian	Sub	36	AAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Other	Sub	210	AAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A

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").

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	6148	(A)₁₈=1.0000	del(A)₅=0.0000, del(A)₄=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000, dup(A)₄=0.0000, dup(A)₅=0.0000, dup(A)₆=0.0000
Allele Frequency Aggregator	European	Sub	4852	(A)₁₈=1.0000	del(A)₅=0.0000, del(A)₄=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000, dup(A)₄=0.0000, dup(A)₅=0.0000, dup(A)₆=0.0000
Allele Frequency Aggregator	African	Sub	496	(A)₁₈=1.000	del(A)₅=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₄=0.000, dup(A)₅=0.000, dup(A)₆=0.000
Allele Frequency Aggregator	Latin American 2	Sub	390	(A)₁₈=1.000	del(A)₅=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₄=0.000, dup(A)₅=0.000, dup(A)₆=0.000
Allele Frequency Aggregator	Other	Sub	210	(A)₁₈=1.000	del(A)₅=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₄=0.000, dup(A)₅=0.000, dup(A)₆=0.000
Allele Frequency Aggregator	Latin American 1	Sub	90	(A)₁₈=1.00	del(A)₅=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₄=0.00, dup(A)₅=0.00, dup(A)₆=0.00
Allele Frequency Aggregator	Asian	Sub	74	(A)₁₈=1.00	del(A)₅=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₄=0.00, dup(A)₅=0.00, dup(A)₆=0.00
Allele Frequency Aggregator	South Asian	Sub	36	(A)₁₈=1.00	del(A)₅=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₄=0.00, dup(A)₅=0.00, dup(A)₆=0.00
1000Genomes	Global	Study-wide	5008	(A)₁₈=0.8672	delAAA=0.1328
1000Genomes	African	Sub	1322	(A)₁₈=0.8843	delAAA=0.1157
1000Genomes	East Asian	Sub	1008	(A)₁₈=0.8323	delAAA=0.1677
1000Genomes	Europe	Sub	1006	(A)₁₈=0.9135	delAAA=0.0865
1000Genomes	South Asian	Sub	978	(A)₁₈=0.803	delAAA=0.197
1000Genomes	American	Sub	694	(A)₁₈=0.909	delAAA=0.091
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	(A)₁₈=0.9333	delAAA=0.0667
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	(A)₁₈=0.9258	delAAA=0.0742
The Danish reference pan genome	Danish	Study-wide	40	(A)₁₈=0.97	delAA=0.03

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 2	NC_000002.12:g.238229996_238230000del
GRCh38.p14 chr 2	NC_000002.12:g.238229997_238230000del
GRCh38.p14 chr 2	NC_000002.12:g.238229998_238230000del
GRCh38.p14 chr 2	NC_000002.12:g.238229999_238230000del
GRCh38.p14 chr 2	NC_000002.12:g.238230000del
GRCh38.p14 chr 2	NC_000002.12:g.238230000dup
GRCh38.p14 chr 2	NC_000002.12:g.238229999_238230000dup
GRCh38.p14 chr 2	NC_000002.12:g.238229998_238230000dup
GRCh38.p14 chr 2	NC_000002.12:g.238229997_238230000dup
GRCh38.p14 chr 2	NC_000002.12:g.238229996_238230000dup
GRCh38.p14 chr 2	NC_000002.12:g.238229995_238230000dup
GRCh38.p14 chr 2	NC_000002.12:g.238229994_238230000dup
GRCh38.p14 chr 2	NC_000002.12:g.238229992_238230000dup
GRCh37.p13 chr 2	NC_000002.11:g.239138637_239138641del
GRCh37.p13 chr 2	NC_000002.11:g.239138638_239138641del
GRCh37.p13 chr 2	NC_000002.11:g.239138639_239138641del
GRCh37.p13 chr 2	NC_000002.11:g.239138640_239138641del
GRCh37.p13 chr 2	NC_000002.11:g.239138641del
GRCh37.p13 chr 2	NC_000002.11:g.239138641dup
GRCh37.p13 chr 2	NC_000002.11:g.239138640_239138641dup
GRCh37.p13 chr 2	NC_000002.11:g.239138639_239138641dup
GRCh37.p13 chr 2	NC_000002.11:g.239138638_239138641dup
GRCh37.p13 chr 2	NC_000002.11:g.239138637_239138641dup
GRCh37.p13 chr 2	NC_000002.11:g.239138636_239138641dup
GRCh37.p13 chr 2	NC_000002.11:g.239138635_239138641dup
GRCh37.p13 chr 2	NC_000002.11:g.239138633_239138641dup

Gene: LINC02610, long intergenic non-protein coding RNA 2610 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LINC02610 transcript variant 1	NR_026925.1:n.	N/A	Intron Variant
LINC02610 transcript variant 2	NR_026926.1:n.	N/A	Intron Variant

Gene: TARDBPP3, TARDBP pseudogene 3 (plus strand) : 2KB Upstream Variant

Molecule type	Change	Amino acid[Codon]	SO Term
TARDBPP3 transcript	NR_026923.1:n.	N/A	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	(A)₁₈=	del(A)₅	del(A)₄	delAAA	delAA	delA	dupA	dupAA	dupAAA	dup(A)₄	dup(A)₅	dup(A)₆	dup(A)₇	dup(A)₉
GRCh38.p14 chr 2	NC_000002.12:g.238229983_238230000=	NC_000002.12:g.238229996_238230000del	NC_000002.12:g.238229997_238230000del	NC_000002.12:g.238229998_238230000del	NC_000002.12:g.238229999_238230000del	NC_000002.12:g.238230000del	NC_000002.12:g.238230000dup	NC_000002.12:g.238229999_238230000dup	NC_000002.12:g.238229998_238230000dup	NC_000002.12:g.238229997_238230000dup	NC_000002.12:g.238229996_238230000dup	NC_000002.12:g.238229995_238230000dup	NC_000002.12:g.238229994_238230000dup	NC_000002.12:g.238229992_238230000dup
GRCh37.p13 chr 2	NC_000002.11:g.239138624_239138641=	NC_000002.11:g.239138637_239138641del	NC_000002.11:g.239138638_239138641del	NC_000002.11:g.239138639_239138641del	NC_000002.11:g.239138640_239138641del	NC_000002.11:g.239138641del	NC_000002.11:g.239138641dup	NC_000002.11:g.239138640_239138641dup	NC_000002.11:g.239138639_239138641dup	NC_000002.11:g.239138638_239138641dup	NC_000002.11:g.239138637_239138641dup	NC_000002.11:g.239138636_239138641dup	NC_000002.11:g.239138635_239138641dup	NC_000002.11:g.239138633_239138641dup

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#.

54 SubSNP, 29 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	BL	ss255987958	May 09, 2011 (134)
2	SSMP	ss663295641	Apr 01, 2015 (144)
3	1000GENOMES	ss1369800754	Aug 21, 2014 (142)
4	EVA_GENOME_DK	ss1575651692	Apr 01, 2015 (144)
5	EVA_UK10K_TWINSUK	ss1703467654	Apr 01, 2015 (144)
6	EVA_UK10K_ALSPAC	ss1703467668	Apr 01, 2015 (144)
7	SYSTEMSBIOZJU	ss2625118560	Nov 08, 2017 (151)
8	SWEGEN	ss2991616109	Nov 08, 2017 (151)
9	EVA_DECODE	ss3706338381	Jul 13, 2019 (153)
10	EVA_DECODE	ss3706338382	Jul 13, 2019 (153)
11	EVA_DECODE	ss3706338383	Jul 13, 2019 (153)
12	EVA_DECODE	ss3706338384	Jul 13, 2019 (153)
13	EVA_DECODE	ss3706338385	Jul 13, 2019 (153)
14	EVA_DECODE	ss3706338386	Jul 13, 2019 (153)
15	PACBIO	ss3784196882	Jul 13, 2019 (153)
16	KHV_HUMAN_GENOMES	ss3802644820	Jul 13, 2019 (153)
17	EVA	ss3827589907	Apr 25, 2020 (154)
18	GNOMAD	ss4063762041	Apr 25, 2021 (155)
19	GNOMAD	ss4063762042	Apr 25, 2021 (155)
20	GNOMAD	ss4063762043	Apr 25, 2021 (155)
21	GNOMAD	ss4063762044	Apr 25, 2021 (155)
22	GNOMAD	ss4063762045	Apr 25, 2021 (155)
23	GNOMAD	ss4063762046	Apr 25, 2021 (155)
24	GNOMAD	ss4063762047	Apr 25, 2021 (155)
25	GNOMAD	ss4063762048	Apr 25, 2021 (155)
26	GNOMAD	ss4063762050	Apr 25, 2021 (155)
27	GNOMAD	ss4063762051	Apr 25, 2021 (155)
28	GNOMAD	ss4063762052	Apr 25, 2021 (155)
29	GNOMAD	ss4063762053	Apr 25, 2021 (155)
30	GNOMAD	ss4063762054	Apr 25, 2021 (155)
31	TOMMO_GENOMICS	ss5157214779	Apr 25, 2021 (155)
32	TOMMO_GENOMICS	ss5157214780	Apr 25, 2021 (155)
33	TOMMO_GENOMICS	ss5157214781	Apr 25, 2021 (155)
34	TOMMO_GENOMICS	ss5157214782	Apr 25, 2021 (155)
35	TOMMO_GENOMICS	ss5157214783	Apr 25, 2021 (155)
36	TOMMO_GENOMICS	ss5157214784	Apr 25, 2021 (155)
37	1000G_HIGH_COVERAGE	ss5252589766	Oct 12, 2022 (156)
38	1000G_HIGH_COVERAGE	ss5252589767	Oct 12, 2022 (156)
39	1000G_HIGH_COVERAGE	ss5252589769	Oct 12, 2022 (156)
40	1000G_HIGH_COVERAGE	ss5252589770	Oct 12, 2022 (156)
41	1000G_HIGH_COVERAGE	ss5252589771	Oct 12, 2022 (156)
42	HUGCELL_USP	ss5452146300	Oct 12, 2022 (156)
43	HUGCELL_USP	ss5452146301	Oct 12, 2022 (156)
44	HUGCELL_USP	ss5452146302	Oct 12, 2022 (156)
45	HUGCELL_USP	ss5452146303	Oct 12, 2022 (156)
46	HUGCELL_USP	ss5452146304	Oct 12, 2022 (156)
47	HUGCELL_USP	ss5452146305	Oct 12, 2022 (156)
48	TOMMO_GENOMICS	ss5688312863	Oct 12, 2022 (156)
49	TOMMO_GENOMICS	ss5688312864	Oct 12, 2022 (156)
50	TOMMO_GENOMICS	ss5688312865	Oct 12, 2022 (156)
51	TOMMO_GENOMICS	ss5688312866	Oct 12, 2022 (156)
52	TOMMO_GENOMICS	ss5688312867	Oct 12, 2022 (156)
53	EVA	ss5853018768	Oct 12, 2022 (156)
54	EVA	ss5957540773	Oct 12, 2022 (156)
55	1000Genomes	NC_000002.11 - 239138624	Oct 11, 2018 (152)
56	The Avon Longitudinal Study of Parents and Children	NC_000002.11 - 239138624	Oct 11, 2018 (152)
57	The Danish reference pan genome	NC_000002.11 - 239138624	Apr 25, 2020 (154)
58	gnomAD - Genomes Submission ignored due to conflicting rows: Row 95435137 (NC_000002.12:238229982::A 1213/83156) Row 95435138 (NC_000002.12:238229982::AA 1837/83244) Row 95435139 (NC_000002.12:238229982::AAA 19890/82746)...	-	Apr 25, 2021 (155)
59	gnomAD - Genomes Submission ignored due to conflicting rows: Row 95435137 (NC_000002.12:238229982::A 1213/83156) Row 95435138 (NC_000002.12:238229982::AA 1837/83244) Row 95435139 (NC_000002.12:238229982::AAA 19890/82746)...	-	Apr 25, 2021 (155)
60	gnomAD - Genomes Submission ignored due to conflicting rows: Row 95435137 (NC_000002.12:238229982::A 1213/83156) Row 95435138 (NC_000002.12:238229982::AA 1837/83244) Row 95435139 (NC_000002.12:238229982::AAA 19890/82746)...	-	Apr 25, 2021 (155)
61	gnomAD - Genomes Submission ignored due to conflicting rows: Row 95435137 (NC_000002.12:238229982::A 1213/83156) Row 95435138 (NC_000002.12:238229982::AA 1837/83244) Row 95435139 (NC_000002.12:238229982::AAA 19890/82746)...	-	Apr 25, 2021 (155)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 95435137 (NC_000002.12:238229982::A 1213/83156) Row 95435138 (NC_000002.12:238229982::AA 1837/83244) Row 95435139 (NC_000002.12:238229982::AAA 19890/82746)...	-	Apr 25, 2021 (155)
63	gnomAD - Genomes Submission ignored due to conflicting rows: Row 95435137 (NC_000002.12:238229982::A 1213/83156) Row 95435138 (NC_000002.12:238229982::AA 1837/83244) Row 95435139 (NC_000002.12:238229982::AAA 19890/82746)...	-	Apr 25, 2021 (155)
64	gnomAD - Genomes Submission ignored due to conflicting rows: Row 95435137 (NC_000002.12:238229982::A 1213/83156) Row 95435138 (NC_000002.12:238229982::AA 1837/83244) Row 95435139 (NC_000002.12:238229982::AAA 19890/82746)...	-	Apr 25, 2021 (155)
65	gnomAD - Genomes Submission ignored due to conflicting rows: Row 95435137 (NC_000002.12:238229982::A 1213/83156) Row 95435138 (NC_000002.12:238229982::AA 1837/83244) Row 95435139 (NC_000002.12:238229982::AAA 19890/82746)...	-	Apr 25, 2021 (155)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 95435137 (NC_000002.12:238229982::A 1213/83156) Row 95435138 (NC_000002.12:238229982::AA 1837/83244) Row 95435139 (NC_000002.12:238229982::AAA 19890/82746)...	-	Apr 25, 2021 (155)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 95435137 (NC_000002.12:238229982::A 1213/83156) Row 95435138 (NC_000002.12:238229982::AA 1837/83244) Row 95435139 (NC_000002.12:238229982::AAA 19890/82746)...	-	Apr 25, 2021 (155)
68	gnomAD - Genomes Submission ignored due to conflicting rows: Row 95435137 (NC_000002.12:238229982::A 1213/83156) Row 95435138 (NC_000002.12:238229982::AA 1837/83244) Row 95435139 (NC_000002.12:238229982::AAA 19890/82746)...	-	Apr 25, 2021 (155)
69	gnomAD - Genomes Submission ignored due to conflicting rows: Row 95435137 (NC_000002.12:238229982::A 1213/83156) Row 95435138 (NC_000002.12:238229982::AA 1837/83244) Row 95435139 (NC_000002.12:238229982::AAA 19890/82746)...	-	Apr 25, 2021 (155)
70	gnomAD - Genomes Submission ignored due to conflicting rows: Row 95435137 (NC_000002.12:238229982::A 1213/83156) Row 95435138 (NC_000002.12:238229982::AA 1837/83244) Row 95435139 (NC_000002.12:238229982::AAA 19890/82746)...	-	Apr 25, 2021 (155)
71	8.3KJPN Submission ignored due to conflicting rows: Row 15184086 (NC_000002.11:239138623:AAA: 2676/16706) Row 15184087 (NC_000002.11:239138623:A: 10/16706) Row 15184088 (NC_000002.11:239138623::AAA 683/16706)...	-	Apr 25, 2021 (155)
72	8.3KJPN Submission ignored due to conflicting rows: Row 15184086 (NC_000002.11:239138623:AAA: 2676/16706) Row 15184087 (NC_000002.11:239138623:A: 10/16706) Row 15184088 (NC_000002.11:239138623::AAA 683/16706)...	-	Apr 25, 2021 (155)
73	8.3KJPN Submission ignored due to conflicting rows: Row 15184086 (NC_000002.11:239138623:AAA: 2676/16706) Row 15184087 (NC_000002.11:239138623:A: 10/16706) Row 15184088 (NC_000002.11:239138623::AAA 683/16706)...	-	Apr 25, 2021 (155)
74	8.3KJPN Submission ignored due to conflicting rows: Row 15184086 (NC_000002.11:239138623:AAA: 2676/16706) Row 15184087 (NC_000002.11:239138623:A: 10/16706) Row 15184088 (NC_000002.11:239138623::AAA 683/16706)...	-	Apr 25, 2021 (155)
75	8.3KJPN Submission ignored due to conflicting rows: Row 15184086 (NC_000002.11:239138623:AAA: 2676/16706) Row 15184087 (NC_000002.11:239138623:A: 10/16706) Row 15184088 (NC_000002.11:239138623::AAA 683/16706)...	-	Apr 25, 2021 (155)
76	8.3KJPN Submission ignored due to conflicting rows: Row 15184086 (NC_000002.11:239138623:AAA: 2676/16706) Row 15184087 (NC_000002.11:239138623:A: 10/16706) Row 15184088 (NC_000002.11:239138623::AAA 683/16706)...	-	Apr 25, 2021 (155)
77	14KJPN Submission ignored due to conflicting rows: Row 22149967 (NC_000002.12:238229982:AAA: 4630/28238) Row 22149968 (NC_000002.12:238229982::AAA 1348/28238) Row 22149969 (NC_000002.12:238229982:A: 17/28238)...	-	Oct 12, 2022 (156)
78	14KJPN Submission ignored due to conflicting rows: Row 22149967 (NC_000002.12:238229982:AAA: 4630/28238) Row 22149968 (NC_000002.12:238229982::AAA 1348/28238) Row 22149969 (NC_000002.12:238229982:A: 17/28238)...	-	Oct 12, 2022 (156)
79	14KJPN Submission ignored due to conflicting rows: Row 22149967 (NC_000002.12:238229982:AAA: 4630/28238) Row 22149968 (NC_000002.12:238229982::AAA 1348/28238) Row 22149969 (NC_000002.12:238229982:A: 17/28238)...	-	Oct 12, 2022 (156)
80	14KJPN Submission ignored due to conflicting rows: Row 22149967 (NC_000002.12:238229982:AAA: 4630/28238) Row 22149968 (NC_000002.12:238229982::AAA 1348/28238) Row 22149969 (NC_000002.12:238229982:A: 17/28238)...	-	Oct 12, 2022 (156)
81	14KJPN Submission ignored due to conflicting rows: Row 22149967 (NC_000002.12:238229982:AAA: 4630/28238) Row 22149968 (NC_000002.12:238229982::AAA 1348/28238) Row 22149969 (NC_000002.12:238229982:A: 17/28238)...	-	Oct 12, 2022 (156)
82	UK 10K study - Twins	NC_000002.11 - 239138624	Oct 11, 2018 (152)
83	ALFA	NC_000002.12 - 238229983	Apr 25, 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
ss4063762054	NC_000002.12:238229982:AAAAA:	NC_000002.12:238229982:AAAAAAAAAAA… NC_000002.12:238229982:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
58859256	NC_000002.12:238229982:AAAAAAAAAAA… NC_000002.12:238229982:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000002.12:238229982:AAAAAAAAAAA… NC_000002.12:238229982:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss2991616109, ss5157214784	NC_000002.11:239138623:AAAA:	NC_000002.12:238229982:AAAAAAAAAAA… NC_000002.12:238229982:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss3706338386, ss4063762053	NC_000002.12:238229982:AAAA:	NC_000002.12:238229982:AAAAAAAAAAA… NC_000002.12:238229982:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
58859256	NC_000002.12:238229982:AAAAAAAAAAA… NC_000002.12:238229982:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000002.12:238229982:AAAAAAAAAAA… NC_000002.12:238229982:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
13406652, 7430325, 7430325, ss663295641, ss1369800754, ss1703467654, ss1703467668, ss2625118560, ss5157214779, ss5957540773	NC_000002.11:239138623:AAA:	NC_000002.12:238229982:AAAAAAAAAAA… NC_000002.12:238229982:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss3802644820, ss4063762052, ss5252589770, ss5452146303, ss5688312863, ss5853018768	NC_000002.12:238229982:AAA:	NC_000002.12:238229982:AAAAAAAAAAA… NC_000002.12:238229982:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
58859256	NC_000002.12:238229982:AAAAAAAAAAA… NC_000002.12:238229982:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000002.12:238229982:AAAAAAAAAAA… NC_000002.12:238229982:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss3706338385	NC_000002.12:238229983:AAA:	NC_000002.12:238229982:AAAAAAAAAAA… NC_000002.12:238229982:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
742751, ss1575651692, ss5157214782	NC_000002.11:239138623:AA:	NC_000002.12:238229982:AAAAAAAAAAA… NC_000002.12:238229982:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss4063762051, ss5252589771, ss5452146304, ss5688312866	NC_000002.12:238229982:AA:	NC_000002.12:238229982:AAAAAAAAAAA… NC_000002.12:238229982:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
58859256	NC_000002.12:238229982:AAAAAAAAAAA… NC_000002.12:238229982:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000002.12:238229982:AAAAAAAAAAA… NC_000002.12:238229982:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3706338384	NC_000002.12:238229984:AA:	NC_000002.12:238229982:AAAAAAAAAAA… NC_000002.12:238229982:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss255987958	NC_000002.10:238803362:A:	NC_000002.12:238229982:AAAAAAAAAAA… NC_000002.12:238229982:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3784196882, ss5157214780	NC_000002.11:239138623:A:	NC_000002.12:238229982:AAAAAAAAAAA… NC_000002.12:238229982:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4063762050, ss5688312865	NC_000002.12:238229982:A:	NC_000002.12:238229982:AAAAAAAAAAA… NC_000002.12:238229982:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
58859256	NC_000002.12:238229982:AAAAAAAAAAA… NC_000002.12:238229982:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000002.12:238229982:AAAAAAAAAAA… NC_000002.12:238229982:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3706338383	NC_000002.12:238229985:A:	NC_000002.12:238229982:AAAAAAAAAAA… NC_000002.12:238229982:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss5157214783	NC_000002.11:239138623::A	NC_000002.12:238229982:AAAAAAAAAAA… NC_000002.12:238229982:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss4063762041, ss5452146301, ss5688312867	NC_000002.12:238229982::A	NC_000002.12:238229982:AAAAAAAAAAA… NC_000002.12:238229982:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
58859256	NC_000002.12:238229982:AAAAAAAAAAA… NC_000002.12:238229982:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000002.12:238229982:AAAAAAAAAAA… NC_000002.12:238229982:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss3706338382	NC_000002.12:238229986::A	NC_000002.12:238229982:AAAAAAAAAAA… NC_000002.12:238229982:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss4063762042, ss5252589767, ss5452146305	NC_000002.12:238229982::AA	NC_000002.12:238229982:AAAAAAAAAAA… NC_000002.12:238229982:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
58859256	NC_000002.12:238229982:AAAAAAAAAAA… NC_000002.12:238229982:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000002.12:238229982:AAAAAAAAAAA… NC_000002.12:238229982:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3827589907, ss5157214781	NC_000002.11:239138623::AAA	NC_000002.12:238229982:AAAAAAAAAAA… NC_000002.12:238229982:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss4063762043, ss5252589766, ss5452146300, ss5688312864	NC_000002.12:238229982::AAA	NC_000002.12:238229982:AAAAAAAAAAA… NC_000002.12:238229982:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
58859256	NC_000002.12:238229982:AAAAAAAAAAA… NC_000002.12:238229982:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	NC_000002.12:238229982:AAAAAAAAAAA… NC_000002.12:238229982:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss3706338381	NC_000002.12:238229986::AAA	NC_000002.12:238229982:AAAAAAAAAAA… NC_000002.12:238229982:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss4063762044, ss5252589769, ss5452146302	NC_000002.12:238229982::AAAA	NC_000002.12:238229982:AAAAAAAAAAA… NC_000002.12:238229982:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
58859256	NC_000002.12:238229982:AAAAAAAAAAA… NC_000002.12:238229982:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	NC_000002.12:238229982:AAAAAAAAAAA… NC_000002.12:238229982:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss4063762045	NC_000002.12:238229982::AAAAA	NC_000002.12:238229982:AAAAAAAAAAA… NC_000002.12:238229982:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
58859256	NC_000002.12:238229982:AAAAAAAAAAA… NC_000002.12:238229982:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	NC_000002.12:238229982:AAAAAAAAAAA… NC_000002.12:238229982:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4063762046	NC_000002.12:238229982::AAAAAA	NC_000002.12:238229982:AAAAAAAAAAA… NC_000002.12:238229982:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
58859256	NC_000002.12:238229982:AAAAAAAAAAA… NC_000002.12:238229982:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	NC_000002.12:238229982:AAAAAAAAAAA… NC_000002.12:238229982:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4063762047	NC_000002.12:238229982::AAAAAAA	NC_000002.12:238229982:AAAAAAAAAAA… NC_000002.12:238229982:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4063762048	NC_000002.12:238229982::AAAAAAAAA	NC_000002.12:238229982:AAAAAAAAAAA… NC_000002.12:238229982:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(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 rs142926805

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

rs142926805