Name: rs11312322
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.

rs11312322

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr2:25746507-25746520 (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: delAAA / delAA / delA / dupA / dup…
delAAA / delAA / delA / dupA / dupAA / dup(A)₅ / dup(A)₉ / ins(A)₁₅ / insAT(A)₄₈
Variation Type: Indel Insertion and Deletion
Frequency: (A)₁₄=0.4291 (2149/5008, 1000G)
delAA=0.0376 (145/3854, ALSPAC)
delAAA=0.000 (0/914, ALFA) (+ 4 more)
delAA=0.000 (0/914, ALFA)
delA=0.000 (0/914, ALFA)
dupA=0.000 (0/914, ALFA)
dupAA=0.000 (0/914, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: ASXL2 : 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	HWEP
Total	Global	914	AAAAAAAAAAAAAA=1.000	AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000	1.0	N/A
European	Sub	240	AAAAAAAAAAAAAA=1.000	AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000	1.0	N/A
African	Sub	396	AAAAAAAAAAAAAA=1.000	AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000	1.0	N/A
African Others	Sub	16	AAAAAAAAAAAAAA=1.00	AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00	1.0	N/A
African American	Sub	380	AAAAAAAAAAAAAA=1.000	AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000	1.0	N/A
Asian	Sub	70	AAAAAAAAAAAAAA=1.00	AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00	1.0	N/A
East Asian	Sub	56	AAAAAAAAAAAAAA=1.00	AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00	1.0	N/A
Other Asian	Sub	14	AAAAAAAAAAAAAA=1.00	AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00	1.0	N/A
Latin American 1	Sub	8	AAAAAAAAAAAAAA=1.0	AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0	1.0	N/A
Latin American 2	Sub	150	AAAAAAAAAAAAAA=1.000	AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000	1.0	N/A
South Asian	Sub	6	AAAAAAAAAAAAAA=1.0	AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0	1.0	N/A
Other	Sub	44	AAAAAAAAAAAAAA=1.00	AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00	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").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
1000Genomes	Global	Study-wide	5008	(A)₁₄=0.4291	delA=0.5709
1000Genomes	African	Sub	1322	(A)₁₄=0.4123	delA=0.5877
1000Genomes	East Asian	Sub	1008	(A)₁₄=0.8185	delA=0.1815
1000Genomes	Europe	Sub	1006	(A)₁₄=0.2008	delA=0.7992
1000Genomes	South Asian	Sub	978	(A)₁₄=0.283	delA=0.717
1000Genomes	American	Sub	694	(A)₁₄=0.432	delA=0.568
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	(A)₁₄=0.9624	delAA=0.0376
Allele Frequency Aggregator	Total	Global	914	(A)₁₄=1.000	delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000
Allele Frequency Aggregator	African	Sub	396	(A)₁₄=1.000	delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000
Allele Frequency Aggregator	European	Sub	240	(A)₁₄=1.000	delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000
Allele Frequency Aggregator	Latin American 2	Sub	150	(A)₁₄=1.000	delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000
Allele Frequency Aggregator	Asian	Sub	70	(A)₁₄=1.00	delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00
Allele Frequency Aggregator	Other	Sub	44	(A)₁₄=1.00	delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00
Allele Frequency Aggregator	Latin American 1	Sub	8	(A)₁₄=1.0	delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0
Allele Frequency Aggregator	South Asian	Sub	6	(A)₁₄=1.0	delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0

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.25746518_25746520del
GRCh38.p14 chr 2	NC_000002.12:g.25746519_25746520del
GRCh38.p14 chr 2	NC_000002.12:g.25746520del
GRCh38.p14 chr 2	NC_000002.12:g.25746520dup
GRCh38.p14 chr 2	NC_000002.12:g.25746519_25746520dup
GRCh38.p14 chr 2	NC_000002.12:g.25746516_25746520dup
GRCh38.p14 chr 2	NC_000002.12:g.25746512_25746520dup
GRCh38.p14 chr 2	NC_000002.12:g.25746520_25746521insAAAAAAAAAAAAAAA
GRCh38.p14 chr 2	NC_000002.12:g.25746507_25746520A[15]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
GRCh37.p13 chr 2	NC_000002.11:g.25969387_25969389del
GRCh37.p13 chr 2	NC_000002.11:g.25969388_25969389del
GRCh37.p13 chr 2	NC_000002.11:g.25969389del
GRCh37.p13 chr 2	NC_000002.11:g.25969389dup
GRCh37.p13 chr 2	NC_000002.11:g.25969388_25969389dup
GRCh37.p13 chr 2	NC_000002.11:g.25969385_25969389dup
GRCh37.p13 chr 2	NC_000002.11:g.25969381_25969389dup
GRCh37.p13 chr 2	NC_000002.11:g.25969389_25969390insAAAAAAAAAAAAAAA
GRCh37.p13 chr 2	NC_000002.11:g.25969376_25969389A[15]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
ASXL2 RefSeqGene (LRG_1421)	NG_052995.1:g.137008_137010del
ASXL2 RefSeqGene (LRG_1421)	NG_052995.1:g.137009_137010del
ASXL2 RefSeqGene (LRG_1421)	NG_052995.1:g.137010del
ASXL2 RefSeqGene (LRG_1421)	NG_052995.1:g.137010dup
ASXL2 RefSeqGene (LRG_1421)	NG_052995.1:g.137009_137010dup
ASXL2 RefSeqGene (LRG_1421)	NG_052995.1:g.137006_137010dup
ASXL2 RefSeqGene (LRG_1421)	NG_052995.1:g.137002_137010dup
ASXL2 RefSeqGene (LRG_1421)	NG_052995.1:g.137010_137011insTTTTTTTTTTTTTTT
ASXL2 RefSeqGene (LRG_1421)	NG_052995.1:g.136997_137010T[48]ATTTTTTTTTTTTTTT[1]

Gene: ASXL2, ASXL transcriptional regulator 2 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ASXL2 transcript variant 2	NM_001369346.1:c.1687-203… NM_001369346.1:c.1687-2033_1687-2031del	N/A	Intron Variant
ASXL2 transcript variant 3	NM_001369347.1:c.1081-203… NM_001369347.1:c.1081-2033_1081-2031del	N/A	Intron Variant
ASXL2 transcript variant 1	NM_018263.6:c.1861-2033_1… NM_018263.6:c.1861-2033_1861-2031del	N/A	Intron Variant

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement	(A)₁₄=	delAAA	delAA	delA	dupA	dupAA	dup(A)₅	dup(A)₉	ins(A)₁₅	insAT(A)₄₈
GRCh38.p14 chr 2	NC_000002.12:g.25746507_25746520=	NC_000002.12:g.25746518_25746520del	NC_000002.12:g.25746519_25746520del	NC_000002.12:g.25746520del	NC_000002.12:g.25746520dup	NC_000002.12:g.25746519_25746520dup	NC_000002.12:g.25746516_25746520dup	NC_000002.12:g.25746512_25746520dup	NC_000002.12:g.25746520_25746521insAAAAAAAAAAAAAAA	NC_000002.12:g.25746507_25746520A[15]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
GRCh37.p13 chr 2	NC_000002.11:g.25969376_25969389=	NC_000002.11:g.25969387_25969389del	NC_000002.11:g.25969388_25969389del	NC_000002.11:g.25969389del	NC_000002.11:g.25969389dup	NC_000002.11:g.25969388_25969389dup	NC_000002.11:g.25969385_25969389dup	NC_000002.11:g.25969381_25969389dup	NC_000002.11:g.25969389_25969390insAAAAAAAAAAAAAAA	NC_000002.11:g.25969376_25969389A[15]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
ASXL2 RefSeqGene (LRG_1421)	NG_052995.1:g.136997_137010=	NG_052995.1:g.137008_137010del	NG_052995.1:g.137009_137010del	NG_052995.1:g.137010del	NG_052995.1:g.137010dup	NG_052995.1:g.137009_137010dup	NG_052995.1:g.137006_137010dup	NG_052995.1:g.137002_137010dup	NG_052995.1:g.137010_137011insTTTTTTTTTTTTTTT	NG_052995.1:g.136997_137010T[48]ATTTTTTTTTTTTTTT[1]
ASXL2 transcript variant 2	NM_001369346.1:c.1687-2031=	NM_001369346.1:c.1687-2033_1687-2031del	NM_001369346.1:c.1687-2032_1687-2031del	NM_001369346.1:c.1687-2031del	NM_001369346.1:c.1687-2031dup	NM_001369346.1:c.1687-2032_1687-2031dup	NM_001369346.1:c.1687-2035_1687-2031dup	NM_001369346.1:c.1687-2039_1687-2031dup	NM_001369346.1:c.1687-2031_1687-2030insTTTTTTTTTTTTTTT	NM_001369346.1:c.1687-2031_1687-2030insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAT
ASXL2 transcript variant 3	NM_001369347.1:c.1081-2031=	NM_001369347.1:c.1081-2033_1081-2031del	NM_001369347.1:c.1081-2032_1081-2031del	NM_001369347.1:c.1081-2031del	NM_001369347.1:c.1081-2031dup	NM_001369347.1:c.1081-2032_1081-2031dup	NM_001369347.1:c.1081-2035_1081-2031dup	NM_001369347.1:c.1081-2039_1081-2031dup	NM_001369347.1:c.1081-2031_1081-2030insTTTTTTTTTTTTTTT	NM_001369347.1:c.1081-2031_1081-2030insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAT
ASXL2 transcript	NM_018263.4:c.1861-2031=	NM_018263.4:c.1861-2033_1861-2031del	NM_018263.4:c.1861-2032_1861-2031del	NM_018263.4:c.1861-2031del	NM_018263.4:c.1861-2031dup	NM_018263.4:c.1861-2032_1861-2031dup	NM_018263.4:c.1861-2035_1861-2031dup	NM_018263.4:c.1861-2039_1861-2031dup	NM_018263.4:c.1861-2031_1861-2030insTTTTTTTTTTTTTTT	NM_018263.4:c.1861-2031_1861-2030insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAT
ASXL2 transcript variant 1	NM_018263.6:c.1861-2031=	NM_018263.6:c.1861-2033_1861-2031del	NM_018263.6:c.1861-2032_1861-2031del	NM_018263.6:c.1861-2031del	NM_018263.6:c.1861-2031dup	NM_018263.6:c.1861-2032_1861-2031dup	NM_018263.6:c.1861-2035_1861-2031dup	NM_018263.6:c.1861-2039_1861-2031dup	NM_018263.6:c.1861-2031_1861-2030insTTTTTTTTTTTTTTT	NM_018263.6:c.1861-2031_1861-2030insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAT

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#.

57 SubSNP, 22 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HUMANGENOME_JCVI	ss95267147	Dec 05, 2013 (138)
2	BUSHMAN	ss193530551	Jul 04, 2010 (132)
3	GMI	ss287695381	May 09, 2011 (134)
4	PJP	ss294976506	May 09, 2011 (134)
5	PJP	ss294976507	May 09, 2011 (137)
6	SSMP	ss663299111	Apr 01, 2015 (144)
7	BILGI_BIOE	ss666141705	Apr 25, 2013 (138)
8	1000GENOMES	ss1368146326	Aug 21, 2014 (142)
9	DDI	ss1536281530	Apr 01, 2015 (144)
10	EVA_UK10K_TWINSUK	ss1702317907	Apr 01, 2015 (144)
11	EVA_UK10K_ALSPAC	ss1702317922	Apr 01, 2015 (144)
12	EVA_UK10K_TWINSUK	ss1709993203	Apr 01, 2015 (144)
13	EVA_UK10K_ALSPAC	ss1709993241	Apr 01, 2015 (144)
14	HAMMER_LAB	ss1796439764	Sep 08, 2015 (146)
15	SWEGEN	ss2989154614	Nov 08, 2017 (151)
16	MCHAISSO	ss3063929691	Nov 08, 2017 (151)
17	MCHAISSO	ss3064780181	Nov 08, 2017 (151)
18	MCHAISSO	ss3065731697	Nov 08, 2017 (151)
19	URBANLAB	ss3646988783	Oct 11, 2018 (152)
20	EVA_DECODE	ss3703467174	Jul 12, 2019 (153)
21	EVA_DECODE	ss3703467175	Jul 12, 2019 (153)
22	EVA_DECODE	ss3703467176	Jul 12, 2019 (153)
23	EVA_DECODE	ss3703467177	Jul 12, 2019 (153)
24	EVA_DECODE	ss3703467178	Jul 12, 2019 (153)
25	ACPOP	ss3728248195	Jul 12, 2019 (153)
26	ACPOP	ss3728248196	Jul 12, 2019 (153)
27	ACPOP	ss3728248197	Jul 12, 2019 (153)
28	ACPOP	ss3728248198	Jul 12, 2019 (153)
29	PACBIO	ss3783808251	Jul 12, 2019 (153)
30	PACBIO	ss3789404834	Jul 12, 2019 (153)
31	PACBIO	ss3794277588	Jul 12, 2019 (153)
32	KHV_HUMAN_GENOMES	ss3800872401	Jul 12, 2019 (153)
33	EVA	ss3826875198	Apr 25, 2020 (154)
34	KOGIC	ss3947328670	Apr 25, 2020 (154)
35	KOGIC	ss3947328671	Apr 25, 2020 (154)
36	GNOMAD	ss4037428077	Apr 27, 2021 (155)
37	GNOMAD	ss4037428078	Apr 27, 2021 (155)
38	GNOMAD	ss4037428079	Apr 27, 2021 (155)
39	GNOMAD	ss4037428080	Apr 27, 2021 (155)
40	GNOMAD	ss4037428081	Apr 27, 2021 (155)
41	TOMMO_GENOMICS	ss5150364892	Apr 27, 2021 (155)
42	TOMMO_GENOMICS	ss5150364893	Apr 27, 2021 (155)
43	TOMMO_GENOMICS	ss5150364894	Apr 27, 2021 (155)
44	1000G_HIGH_COVERAGE	ss5247297651	Oct 17, 2022 (156)
45	1000G_HIGH_COVERAGE	ss5247297652	Oct 17, 2022 (156)
46	1000G_HIGH_COVERAGE	ss5247297653	Oct 17, 2022 (156)
47	HUGCELL_USP	ss5447571159	Oct 17, 2022 (156)
48	HUGCELL_USP	ss5447571160	Oct 17, 2022 (156)
49	HUGCELL_USP	ss5447571161	Oct 17, 2022 (156)
50	TOMMO_GENOMICS	ss5678698586	Oct 17, 2022 (156)
51	TOMMO_GENOMICS	ss5678698587	Oct 17, 2022 (156)
52	TOMMO_GENOMICS	ss5678698588	Oct 17, 2022 (156)
53	YY_MCH	ss5802020474	Oct 17, 2022 (156)
54	EVA	ss5819805273	Oct 17, 2022 (156)
55	EVA	ss5819805274	Oct 17, 2022 (156)
56	EVA	ss5852435616	Oct 17, 2022 (156)
57	EVA	ss5929472724	Oct 17, 2022 (156)
58	1000Genomes	NC_000002.11 - 25969376	Oct 11, 2018 (152)
59	The Avon Longitudinal Study of Parents and Children	NC_000002.11 - 25969376	Oct 11, 2018 (152)
60	gnomAD - Genomes Submission ignored due to conflicting rows: Row 51627492 (NC_000002.12:25746506::A 49/125268) Row 51627493 (NC_000002.12:25746506::AAAAA 1/125276) Row 51627494 (NC_000002.12:25746506:A: 85909/125188)...	-	Apr 27, 2021 (155)
61	gnomAD - Genomes Submission ignored due to conflicting rows: Row 51627492 (NC_000002.12:25746506::A 49/125268) Row 51627493 (NC_000002.12:25746506::AAAAA 1/125276) Row 51627494 (NC_000002.12:25746506:A: 85909/125188)...	-	Apr 27, 2021 (155)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 51627492 (NC_000002.12:25746506::A 49/125268) Row 51627493 (NC_000002.12:25746506::AAAAA 1/125276) Row 51627494 (NC_000002.12:25746506:A: 85909/125188)...	-	Apr 27, 2021 (155)
63	gnomAD - Genomes Submission ignored due to conflicting rows: Row 51627492 (NC_000002.12:25746506::A 49/125268) Row 51627493 (NC_000002.12:25746506::AAAAA 1/125276) Row 51627494 (NC_000002.12:25746506:A: 85909/125188)...	-	Apr 27, 2021 (155)
64	gnomAD - Genomes Submission ignored due to conflicting rows: Row 51627492 (NC_000002.12:25746506::A 49/125268) Row 51627493 (NC_000002.12:25746506::AAAAA 1/125276) Row 51627494 (NC_000002.12:25746506:A: 85909/125188)...	-	Apr 27, 2021 (155)
65	Korean Genome Project Submission ignored due to conflicting rows: Row 3706671 (NC_000002.12:25746506:A: 324/1832) Row 3706672 (NC_000002.12:25746507::A 65/1832)	-	Apr 25, 2020 (154)
66	Korean Genome Project Submission ignored due to conflicting rows: Row 3706671 (NC_000002.12:25746506:A: 324/1832) Row 3706672 (NC_000002.12:25746507::A 65/1832)	-	Apr 25, 2020 (154)
67	Northern Sweden Submission ignored due to conflicting rows: Row 1533060 (NC_000002.11:25969375:A: 378/574) Row 1533061 (NC_000002.11:25969375:AA: 24/574) Row 1533062 (NC_000002.11:25969375::AAAAAAAAAAAAAAA 1/574)...	-	Jul 12, 2019 (153)
68	Northern Sweden Submission ignored due to conflicting rows: Row 1533060 (NC_000002.11:25969375:A: 378/574) Row 1533061 (NC_000002.11:25969375:AA: 24/574) Row 1533062 (NC_000002.11:25969375::AAAAAAAAAAAAAAA 1/574)...	-	Jul 12, 2019 (153)
69	Northern Sweden Submission ignored due to conflicting rows: Row 1533060 (NC_000002.11:25969375:A: 378/574) Row 1533061 (NC_000002.11:25969375:AA: 24/574) Row 1533062 (NC_000002.11:25969375::AAAAAAAAAAAAAAA 1/574)...	-	Jul 12, 2019 (153)
70	Northern Sweden Submission ignored due to conflicting rows: Row 1533060 (NC_000002.11:25969375:A: 378/574) Row 1533061 (NC_000002.11:25969375:AA: 24/574) Row 1533062 (NC_000002.11:25969375::AAAAAAAAAAAAAAA 1/574)...	-	Jul 12, 2019 (153)
71	8.3KJPN Submission ignored due to conflicting rows: Row 8334199 (NC_000002.11:25969375:A: 2163/16760) Row 8334200 (NC_000002.11:25969375::A 26/16760) Row 8334201 (NC_000002.11:25969375:AA: 1/16760)	-	Apr 27, 2021 (155)
72	8.3KJPN Submission ignored due to conflicting rows: Row 8334199 (NC_000002.11:25969375:A: 2163/16760) Row 8334200 (NC_000002.11:25969375::A 26/16760) Row 8334201 (NC_000002.11:25969375:AA: 1/16760)	-	Apr 27, 2021 (155)
73	8.3KJPN Submission ignored due to conflicting rows: Row 8334199 (NC_000002.11:25969375:A: 2163/16760) Row 8334200 (NC_000002.11:25969375::A 26/16760) Row 8334201 (NC_000002.11:25969375:AA: 1/16760)	-	Apr 27, 2021 (155)
74	14KJPN Submission ignored due to conflicting rows: Row 12535690 (NC_000002.12:25746506:A: 3702/28258) Row 12535691 (NC_000002.12:25746506::A 44/28258) Row 12535692 (NC_000002.12:25746506:AA: 2/28258)	-	Oct 17, 2022 (156)
75	14KJPN Submission ignored due to conflicting rows: Row 12535690 (NC_000002.12:25746506:A: 3702/28258) Row 12535691 (NC_000002.12:25746506::A 44/28258) Row 12535692 (NC_000002.12:25746506:AA: 2/28258)	-	Oct 17, 2022 (156)
76	14KJPN Submission ignored due to conflicting rows: Row 12535690 (NC_000002.12:25746506:A: 3702/28258) Row 12535691 (NC_000002.12:25746506::A 44/28258) Row 12535692 (NC_000002.12:25746506:AA: 2/28258)	-	Oct 17, 2022 (156)
77	UK 10K study - Twins Submission ignored due to conflicting rows: Row 4034833 (NC_000002.11:25969376:A: 3062/3708) Row 4034834 (NC_000002.11:25969375:AA: 138/3708)	-	Apr 25, 2020 (154)
78	UK 10K study - Twins	-	Oct 11, 2018 (152)
79	ALFA	NC_000002.12 - 25746507	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).

Associated ID	History Updated (Build)
rs33971821	May 23, 2006 (127)
rs67930138	May 11, 2012 (137)
rs67930139	Feb 27, 2009 (130)
rs67930140	Feb 27, 2009 (130)
rs71675367	May 11, 2012 (137)
rs374709331	May 13, 2013 (138)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss3703467178, ss4037428081	NC_000002.12:25746506:AAA:	NC_000002.12:25746506:AAAAAAAAAAAA… NC_000002.12:25746506:AAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
1691487339	NC_000002.12:25746506:AAAAAAAAAAAA… NC_000002.12:25746506:AAAAAAAAAAAAAA:AAAAAAAAAAA	NC_000002.12:25746506:AAAAAAAAAAAA… NC_000002.12:25746506:AAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
4034834, ss1702317907, ss1702317922, ss2989154614, ss3728248196, ss5150364894, ss5819805274	NC_000002.11:25969375:AA:	NC_000002.12:25746506:AAAAAAAAAAAA… NC_000002.12:25746506:AAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss4037428080, ss5247297652, ss5447571161, ss5678698588	NC_000002.12:25746506:AA:	NC_000002.12:25746506:AAAAAAAAAAAA… NC_000002.12:25746506:AAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
1691487339	NC_000002.12:25746506:AAAAAAAAAAAA… NC_000002.12:25746506:AAAAAAAAAAAAAA:AAAAAAAAAAAA	NC_000002.12:25746506:AAAAAAAAAAAA… NC_000002.12:25746506:AAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss3703467177	NC_000002.12:25746507:AA:	NC_000002.12:25746506:AAAAAAAAAAAA… NC_000002.12:25746506:AAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss294976506	NC_000002.10:25822879:A:	NC_000002.12:25746506:AAAAAAAAAAAA… NC_000002.12:25746506:AAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss294976507	NC_000002.10:25822892:A:	NC_000002.12:25746506:AAAAAAAAAAAA… NC_000002.12:25746506:AAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
7266828, ss663299111, ss666141705, ss1368146326, ss1536281530, ss1796439764, ss3728248195, ss3783808251, ss3789404834, ss3794277588, ss3826875198, ss5150364892, ss5819805273	NC_000002.11:25969375:A:	NC_000002.12:25746506:AAAAAAAAAAAA… NC_000002.12:25746506:AAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss1709993203, ss1709993241	NC_000002.11:25969376:A:	NC_000002.12:25746506:AAAAAAAAAAAA… NC_000002.12:25746506:AAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss3063929691, ss3064780181, ss3065731697, ss3646988783, ss3800872401, ss3947328670, ss4037428079, ss5247297651, ss5447571159, ss5678698586, ss5802020474, ss5852435616, ss5929472724	NC_000002.12:25746506:A:	NC_000002.12:25746506:AAAAAAAAAAAA… NC_000002.12:25746506:AAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
1691487339	NC_000002.12:25746506:AAAAAAAAAAAA… NC_000002.12:25746506:AAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000002.12:25746506:AAAAAAAAAAAA… NC_000002.12:25746506:AAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss3703467176	NC_000002.12:25746508:A:	NC_000002.12:25746506:AAAAAAAAAAAA… NC_000002.12:25746506:AAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss287695381	NT_022184.15:4791262:A:	NC_000002.12:25746506:AAAAAAAAAAAA… NC_000002.12:25746506:AAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss95267147	NT_022184.15:4791275:A:	NC_000002.12:25746506:AAAAAAAAAAAA… NC_000002.12:25746506:AAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss193530551	NT_022184.16:9600387:A:	NC_000002.12:25746506:AAAAAAAAAAAA… NC_000002.12:25746506:AAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss5150364893	NC_000002.11:25969375::A	NC_000002.12:25746506:AAAAAAAAAAAA… NC_000002.12:25746506:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss4037428077, ss5247297653, ss5447571160, ss5678698587	NC_000002.12:25746506::A	NC_000002.12:25746506:AAAAAAAAAAAA… NC_000002.12:25746506:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
1691487339	NC_000002.12:25746506:AAAAAAAAAAAA… NC_000002.12:25746506:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000002.12:25746506:AAAAAAAAAAAA… NC_000002.12:25746506:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss3947328671	NC_000002.12:25746507::A	NC_000002.12:25746506:AAAAAAAAAAAA… NC_000002.12:25746506:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss3703467175	NC_000002.12:25746509::A	NC_000002.12:25746506:AAAAAAAAAAAA… NC_000002.12:25746506:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
1691487339	NC_000002.12:25746506:AAAAAAAAAAAA… NC_000002.12:25746506:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000002.12:25746506:AAAAAAAAAAAA… NC_000002.12:25746506:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss4037428078	NC_000002.12:25746506::AAAAA	NC_000002.12:25746506:AAAAAAAAAAAA… NC_000002.12:25746506:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss3703467174	NC_000002.12:25746509::AAAAAAAAA	NC_000002.12:25746506:AAAAAAAAAAAA… NC_000002.12:25746506:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3728248197	NC_000002.11:25969375::AAAAAAAAAAA… NC_000002.11:25969375::AAAAAAAAAAAAAAA	NC_000002.12:25746506:AAAAAAAAAAAA… NC_000002.12:25746506:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3728248198	NC_000002.11:25969375::AAAAAAAAAAA… NC_000002.11:25969375::AAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000002.12:25746506:AAAAAAAAAAAA… NC_000002.12:25746506:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss3302136961	NC_000002.12:25746506::AA	NC_000002.12:25746506:AAAAAAAAAAAA… NC_000002.12:25746506:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

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

No publications for rs11312322

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

rs11312322