Name: rs146388527
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.

rs146388527

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:160134236-160134253 (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(CA)₄ / del(CA)₃ / delCACA / de…
del(CA)₄ / del(CA)₃ / delCACA / delCA / dupCA / dupCACA / dup(CA)₃ / dup(CA)₄ / dup(CA)₅
Variation Type: Indel Insertion and Deletion
Frequency: dupCA=0.3151 (2401/7619, ALFA)
(CA)₉=0.4756 (2382/5008, 1000G)

Clinical Significance: Reported in ClinVar
Gene : Consequence: ATP1A2 : 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	7619	CACACACACACACACACA=0.4822	CACACACACA=0.0000, CACACACACACA=0.0000, CACACACACACACA=0.0000, CACACACACACACACA=0.0654, CACACACACACACACACACA=0.3151, CACACACACACACACACACACACA=0.0911, CACACACACACACACACACACA=0.0462, CACACACACACACACACACACACACA=0.0000	0.630301	0.277178	0.092521	32
European	Sub	6415	CACACACACACACACACA=0.3860	CACACACACA=0.0000, CACACACACACA=0.0000, CACACACACACACA=0.0000, CACACACACACACACA=0.0776, CACACACACACACACACACA=0.3735, CACACACACACACACACACACACA=0.1082, CACACACACACACACACACACA=0.0547, CACACACACACACACACACACACACA=0.0000	0.519819	0.359759	0.120421	32
African	Sub	744	CACACACACACACACACA=1.000	CACACACACA=0.000, CACACACACACA=0.000, CACACACACACACA=0.000, CACACACACACACACA=0.000, CACACACACACACACACACA=0.000, CACACACACACACACACACACACA=0.000, CACACACACACACACACACACA=0.000, CACACACACACACACACACACACACA=0.000	1.0	0.0	0.0	N/A
African Others	Sub	28	CACACACACACACACACA=1.00	CACACACACA=0.00, CACACACACACA=0.00, CACACACACACACA=0.00, CACACACACACACACA=0.00, CACACACACACACACACACA=0.00, CACACACACACACACACACACACA=0.00, CACACACACACACACACACACA=0.00, CACACACACACACACACACACACACA=0.00	1.0	0.0	0.0	N/A
African American	Sub	716	CACACACACACACACACA=1.000	CACACACACA=0.000, CACACACACACA=0.000, CACACACACACACA=0.000, CACACACACACACACA=0.000, CACACACACACACACACACA=0.000, CACACACACACACACACACACACA=0.000, CACACACACACACACACACACA=0.000, CACACACACACACACACACACACACA=0.000	1.0	0.0	0.0	N/A
Asian	Sub	50	CACACACACACACACACA=1.00	CACACACACA=0.00, CACACACACACA=0.00, CACACACACACACA=0.00, CACACACACACACACA=0.00, CACACACACACACACACACA=0.00, CACACACACACACACACACACACA=0.00, CACACACACACACACACACACA=0.00, CACACACACACACACACACACACACA=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	36	CACACACACACACACACA=1.00	CACACACACA=0.00, CACACACACACA=0.00, CACACACACACACA=0.00, CACACACACACACACA=0.00, CACACACACACACACACACA=0.00, CACACACACACACACACACACACA=0.00, CACACACACACACACACACACA=0.00, CACACACACACACACACACACACACA=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	14	CACACACACACACACACA=1.00	CACACACACA=0.00, CACACACACACA=0.00, CACACACACACACA=0.00, CACACACACACACACA=0.00, CACACACACACACACACACA=0.00, CACACACACACACACACACACACA=0.00, CACACACACACACACACACACA=0.00, CACACACACACACACACACACACACA=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	38	CACACACACACACACACA=1.00	CACACACACA=0.00, CACACACACACA=0.00, CACACACACACACA=0.00, CACACACACACACACA=0.00, CACACACACACACACACACA=0.00, CACACACACACACACACACACACA=0.00, CACACACACACACACACACACA=0.00, CACACACACACACACACACACACACA=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	224	CACACACACACACACACA=1.000	CACACACACA=0.000, CACACACACACA=0.000, CACACACACACACA=0.000, CACACACACACACACA=0.000, CACACACACACACACACACA=0.000, CACACACACACACACACACACACA=0.000, CACACACACACACACACACACA=0.000, CACACACACACACACACACACACACA=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	20	CACACACACACACACACA=1.00	CACACACACA=0.00, CACACACACACA=0.00, CACACACACACACA=0.00, CACACACACACACACA=0.00, CACACACACACACACACACA=0.00, CACACACACACACACACACACACA=0.00, CACACACACACACACACACACA=0.00, CACACACACACACACACACACACACA=0.00	1.0	0.0	0.0	N/A
Other	Sub	128	CACACACACACACACACA=0.953	CACACACACA=0.000, CACACACACACA=0.000, CACACACACACACA=0.000, CACACACACACACACA=0.000, CACACACACACACACACACA=0.039, CACACACACACACACACACACACA=0.000, CACACACACACACACACACACA=0.008, CACACACACACACACACACACACACA=0.000	0.968254	0.031746	0.0	34

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	7619	(CA)₉=0.4822	del(CA)₄=0.0000, del(CA)₃=0.0000, delCACA=0.0000, delCA=0.0654, dupCA=0.3151, dupCACA=0.0462, dup(CA)₃=0.0911, dup(CA)₄=0.0000
Allele Frequency Aggregator	European	Sub	6415	(CA)₉=0.3860	del(CA)₄=0.0000, del(CA)₃=0.0000, delCACA=0.0000, delCA=0.0776, dupCA=0.3735, dupCACA=0.0547, dup(CA)₃=0.1082, dup(CA)₄=0.0000
Allele Frequency Aggregator	African	Sub	744	(CA)₉=1.000	del(CA)₄=0.000, del(CA)₃=0.000, delCACA=0.000, delCA=0.000, dupCA=0.000, dupCACA=0.000, dup(CA)₃=0.000, dup(CA)₄=0.000
Allele Frequency Aggregator	Latin American 2	Sub	224	(CA)₉=1.000	del(CA)₄=0.000, del(CA)₃=0.000, delCACA=0.000, delCA=0.000, dupCA=0.000, dupCACA=0.000, dup(CA)₃=0.000, dup(CA)₄=0.000
Allele Frequency Aggregator	Other	Sub	128	(CA)₉=0.953	del(CA)₄=0.000, del(CA)₃=0.000, delCACA=0.000, delCA=0.000, dupCA=0.039, dupCACA=0.008, dup(CA)₃=0.000, dup(CA)₄=0.000
Allele Frequency Aggregator	Asian	Sub	50	(CA)₉=1.00	del(CA)₄=0.00, del(CA)₃=0.00, delCACA=0.00, delCA=0.00, dupCA=0.00, dupCACA=0.00, dup(CA)₃=0.00, dup(CA)₄=0.00
Allele Frequency Aggregator	Latin American 1	Sub	38	(CA)₉=1.00	del(CA)₄=0.00, del(CA)₃=0.00, delCACA=0.00, delCA=0.00, dupCA=0.00, dupCACA=0.00, dup(CA)₃=0.00, dup(CA)₄=0.00
Allele Frequency Aggregator	South Asian	Sub	20	(CA)₉=1.00	del(CA)₄=0.00, del(CA)₃=0.00, delCACA=0.00, delCA=0.00, dupCA=0.00, dupCACA=0.00, dup(CA)₃=0.00, dup(CA)₄=0.00
1000Genomes	Global	Study-wide	5008	- No frequency provided	dupCA=0.5244
1000Genomes	African	Sub	1322	- No frequency provided	dupCA=0.5287
1000Genomes	East Asian	Sub	1008	- No frequency provided	dupCA=0.4454
1000Genomes	Europe	Sub	1006	- No frequency provided	dupCA=0.5765
1000Genomes	South Asian	Sub	978	- No frequency provided	dupCA=0.521
1000Genomes	American	Sub	694	- No frequency provided	dupCA=0.559

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 1	NC_000001.11:g.160134236CA[5]
GRCh38.p14 chr 1	NC_000001.11:g.160134236CA[6]
GRCh38.p14 chr 1	NC_000001.11:g.160134236CA[7]
GRCh38.p14 chr 1	NC_000001.11:g.160134236CA[8]
GRCh38.p14 chr 1	NC_000001.11:g.160134236CA[10]
GRCh38.p14 chr 1	NC_000001.11:g.160134236CA[11]
GRCh38.p14 chr 1	NC_000001.11:g.160134236CA[12]
GRCh38.p14 chr 1	NC_000001.11:g.160134236CA[13]
GRCh38.p14 chr 1	NC_000001.11:g.160134236CA[14]
GRCh37.p13 chr 1	NC_000001.10:g.160104026CA[5]
GRCh37.p13 chr 1	NC_000001.10:g.160104026CA[6]
GRCh37.p13 chr 1	NC_000001.10:g.160104026CA[7]
GRCh37.p13 chr 1	NC_000001.10:g.160104026CA[8]
GRCh37.p13 chr 1	NC_000001.10:g.160104026CA[10]
GRCh37.p13 chr 1	NC_000001.10:g.160104026CA[11]
GRCh37.p13 chr 1	NC_000001.10:g.160104026CA[12]
GRCh37.p13 chr 1	NC_000001.10:g.160104026CA[13]
GRCh37.p13 chr 1	NC_000001.10:g.160104026CA[14]
ATP1A2 RefSeqGene (LRG_6)	NG_008014.1:g.23479CA[5]
ATP1A2 RefSeqGene (LRG_6)	NG_008014.1:g.23479CA[6]
ATP1A2 RefSeqGene (LRG_6)	NG_008014.1:g.23479CA[7]
ATP1A2 RefSeqGene (LRG_6)	NG_008014.1:g.23479CA[8]
ATP1A2 RefSeqGene (LRG_6)	NG_008014.1:g.23479CA[10]
ATP1A2 RefSeqGene (LRG_6)	NG_008014.1:g.23479CA[11]
ATP1A2 RefSeqGene (LRG_6)	NG_008014.1:g.23479CA[12]
ATP1A2 RefSeqGene (LRG_6)	NG_008014.1:g.23479CA[13]
ATP1A2 RefSeqGene (LRG_6)	NG_008014.1:g.23479CA[14]

Gene: ATP1A2, ATPase Na+/K+ transporting subunit alpha 2 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ATP1A2 transcript	NM_000702.4:c.1828-248CA[… NM_000702.4:c.1828-248CA[5]	N/A	Intron Variant
ATP1A2 transcript variant X1	XM_047421286.1:c.937-248C… XM_047421286.1:c.937-248CA[5]	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.

Allele: delCA (allele ID: 1212336 )

ClinVar Accession	Disease Names	Clinical Significance
RCV001595210.3	not provided	Benign

Allele: dupCA (allele ID: 1167165 )

ClinVar Accession	Disease Names	Clinical Significance
RCV001534234.2	not provided	Benign

Allele: dupCACA (allele ID: 1223687 )

ClinVar Accession	Disease Names	Clinical Significance
RCV001620808.3	not provided	Benign

Allele: dup(CA)₃ (allele ID: 1213332 )

ClinVar Accession	Disease Names	Clinical Significance
RCV001594744.3	not provided	Benign

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	(CA)₉=	del(CA)₄	del(CA)₃	delCACA	delCA	dupCA	dupCACA	dup(CA)₃	dup(CA)₄	dup(CA)₅
GRCh38.p14 chr 1	NC_000001.11:g.160134236_160134253=	NC_000001.11:g.160134236CA[5]	NC_000001.11:g.160134236CA[6]	NC_000001.11:g.160134236CA[7]	NC_000001.11:g.160134236CA[8]	NC_000001.11:g.160134236CA[10]	NC_000001.11:g.160134236CA[11]	NC_000001.11:g.160134236CA[12]	NC_000001.11:g.160134236CA[13]	NC_000001.11:g.160134236CA[14]
GRCh37.p13 chr 1	NC_000001.10:g.160104026_160104043=	NC_000001.10:g.160104026CA[5]	NC_000001.10:g.160104026CA[6]	NC_000001.10:g.160104026CA[7]	NC_000001.10:g.160104026CA[8]	NC_000001.10:g.160104026CA[10]	NC_000001.10:g.160104026CA[11]	NC_000001.10:g.160104026CA[12]	NC_000001.10:g.160104026CA[13]	NC_000001.10:g.160104026CA[14]
ATP1A2 RefSeqGene (LRG_6)	NG_008014.1:g.23479_23496=	NG_008014.1:g.23479CA[5]	NG_008014.1:g.23479CA[6]	NG_008014.1:g.23479CA[7]	NG_008014.1:g.23479CA[8]	NG_008014.1:g.23479CA[10]	NG_008014.1:g.23479CA[11]	NG_008014.1:g.23479CA[12]	NG_008014.1:g.23479CA[13]	NG_008014.1:g.23479CA[14]
ATP1A2 transcript	NM_000702.3:c.1828-248=	NM_000702.3:c.1828-248CA[5]	NM_000702.3:c.1828-248CA[6]	NM_000702.3:c.1828-248CA[7]	NM_000702.3:c.1828-248CA[8]	NM_000702.3:c.1828-248CA[10]	NM_000702.3:c.1828-248CA[11]	NM_000702.3:c.1828-248CA[12]	NM_000702.3:c.1828-248CA[13]	NM_000702.3:c.1828-248CA[14]
ATP1A2 transcript	NM_000702.4:c.1828-248=	NM_000702.4:c.1828-248CA[5]	NM_000702.4:c.1828-248CA[6]	NM_000702.4:c.1828-248CA[7]	NM_000702.4:c.1828-248CA[8]	NM_000702.4:c.1828-248CA[10]	NM_000702.4:c.1828-248CA[11]	NM_000702.4:c.1828-248CA[12]	NM_000702.4:c.1828-248CA[13]	NM_000702.4:c.1828-248CA[14]
ATP1A2 transcript variant X1	XM_005245210.1:c.937-248=	XM_005245210.1:c.937-248CA[5]	XM_005245210.1:c.937-248CA[6]	XM_005245210.1:c.937-248CA[7]	XM_005245210.1:c.937-248CA[8]	XM_005245210.1:c.937-248CA[10]	XM_005245210.1:c.937-248CA[11]	XM_005245210.1:c.937-248CA[12]	XM_005245210.1:c.937-248CA[13]	XM_005245210.1:c.937-248CA[14]
ATP1A2 transcript variant X1	XM_047421286.1:c.937-248=	XM_047421286.1:c.937-248CA[5]	XM_047421286.1:c.937-248CA[6]	XM_047421286.1:c.937-248CA[7]	XM_047421286.1:c.937-248CA[8]	XM_047421286.1:c.937-248CA[10]	XM_047421286.1:c.937-248CA[11]	XM_047421286.1:c.937-248CA[12]	XM_047421286.1:c.937-248CA[13]	XM_047421286.1:c.937-248CA[14]

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#.

51 SubSNP, 24 Frequency, 4 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss80883319	Jan 10, 2018 (151)
2	BUSHMAN	ss193131519	Oct 11, 2018 (152)
3	GMI	ss288045513	Jan 10, 2018 (151)
4	1000GENOMES	ss326090520	May 09, 2011 (134)
5	1000GENOMES	ss326093642	May 09, 2011 (134)
6	TISHKOFF	ss553782317	Jan 10, 2018 (151)
7	SSMP	ss663125232	Jan 10, 2018 (151)
8	1000GENOMES	ss1367868363	Aug 21, 2014 (142)
9	DDI	ss1536249589	Apr 01, 2015 (144)
10	SWEGEN	ss2987815300	Jan 10, 2018 (151)
11	MCHAISSO	ss3063610601	Nov 08, 2017 (151)
12	MCHAISSO	ss3063610602	Nov 08, 2017 (151)
13	PACBIO	ss3783577278	Jul 12, 2019 (153)
14	PACBIO	ss3789206878	Jul 12, 2019 (153)
15	PACBIO	ss3794078890	Jul 12, 2019 (153)
16	KHV_HUMAN_GENOMES	ss3799855310	Jul 12, 2019 (153)
17	EVA	ss3826444555	Apr 25, 2020 (154)
18	EVA	ss3836617104	Apr 25, 2020 (154)
19	EVA	ss3842026571	Apr 25, 2020 (154)
20	KOGIC	ss3945731926	Apr 25, 2020 (154)
21	KOGIC	ss3945731927	Apr 25, 2020 (154)
22	KOGIC	ss3945731928	Apr 25, 2020 (154)
23	KOGIC	ss3945731929	Apr 25, 2020 (154)
24	KOGIC	ss3945731930	Apr 25, 2020 (154)
25	GNOMAD	ss4004416220	Apr 25, 2021 (155)
26	GNOMAD	ss4004416221	Apr 25, 2021 (155)
27	GNOMAD	ss4004416222	Apr 25, 2021 (155)
28	GNOMAD	ss4004416223	Apr 25, 2021 (155)
29	GNOMAD	ss4004416224	Apr 25, 2021 (155)
30	GNOMAD	ss4004416228	Apr 25, 2021 (155)
31	GNOMAD	ss4004416229	Apr 25, 2021 (155)
32	GNOMAD	ss4004416230	Apr 25, 2021 (155)
33	TOMMO_GENOMICS	ss5146661625	Apr 25, 2021 (155)
34	TOMMO_GENOMICS	ss5146661626	Apr 25, 2021 (155)
35	TOMMO_GENOMICS	ss5146661627	Apr 25, 2021 (155)
36	TOMMO_GENOMICS	ss5146661628	Apr 25, 2021 (155)
37	TOMMO_GENOMICS	ss5146661629	Apr 25, 2021 (155)
38	1000G_HIGH_COVERAGE	ss5244426265	Oct 12, 2022 (156)
39	1000G_HIGH_COVERAGE	ss5244426266	Oct 12, 2022 (156)
40	HUGCELL_USP	ss5445002326	Oct 12, 2022 (156)
41	HUGCELL_USP	ss5445002327	Oct 12, 2022 (156)
42	HUGCELL_USP	ss5445002328	Oct 12, 2022 (156)
43	HUGCELL_USP	ss5445002329	Oct 12, 2022 (156)
44	TOMMO_GENOMICS	ss5673912922	Oct 12, 2022 (156)
45	TOMMO_GENOMICS	ss5673912923	Oct 12, 2022 (156)
46	TOMMO_GENOMICS	ss5673912924	Oct 12, 2022 (156)
47	TOMMO_GENOMICS	ss5673912926	Oct 12, 2022 (156)
48	EVA	ss5832718200	Oct 12, 2022 (156)
49	EVA	ss5832718201	Oct 12, 2022 (156)
50	EVA	ss5832718202	Oct 12, 2022 (156)
51	EVA	ss5979992777	Oct 12, 2022 (156)
52	1000Genomes	NC_000001.10 - 160104026	Oct 11, 2018 (152)
53	gnomAD - Genomes Submission ignored due to conflicting rows: Row 28189656 (NC_000001.11:160134235::CA 54536/112660) Row 28189657 (NC_000001.11:160134235::CACA 6921/112978) Row 28189658 (NC_000001.11:160134235::CACACA 18871/112810)...	-	Apr 25, 2021 (155)
54	gnomAD - Genomes Submission ignored due to conflicting rows: Row 28189656 (NC_000001.11:160134235::CA 54536/112660) Row 28189657 (NC_000001.11:160134235::CACA 6921/112978) Row 28189658 (NC_000001.11:160134235::CACACA 18871/112810)...	-	Apr 25, 2021 (155)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 28189656 (NC_000001.11:160134235::CA 54536/112660) Row 28189657 (NC_000001.11:160134235::CACA 6921/112978) Row 28189658 (NC_000001.11:160134235::CACACA 18871/112810)...	-	Apr 25, 2021 (155)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 28189656 (NC_000001.11:160134235::CA 54536/112660) Row 28189657 (NC_000001.11:160134235::CACA 6921/112978) Row 28189658 (NC_000001.11:160134235::CACACA 18871/112810)...	-	Apr 25, 2021 (155)
57	gnomAD - Genomes Submission ignored due to conflicting rows: Row 28189656 (NC_000001.11:160134235::CA 54536/112660) Row 28189657 (NC_000001.11:160134235::CACA 6921/112978) Row 28189658 (NC_000001.11:160134235::CACACA 18871/112810)...	-	Apr 25, 2021 (155)
58	gnomAD - Genomes Submission ignored due to conflicting rows: Row 28189656 (NC_000001.11:160134235::CA 54536/112660) Row 28189657 (NC_000001.11:160134235::CACA 6921/112978) Row 28189658 (NC_000001.11:160134235::CACACA 18871/112810)...	-	Apr 25, 2021 (155)
59	gnomAD - Genomes Submission ignored due to conflicting rows: Row 28189656 (NC_000001.11:160134235::CA 54536/112660) Row 28189657 (NC_000001.11:160134235::CACA 6921/112978) Row 28189658 (NC_000001.11:160134235::CACACA 18871/112810)...	-	Apr 25, 2021 (155)
60	gnomAD - Genomes Submission ignored due to conflicting rows: Row 28189656 (NC_000001.11:160134235::CA 54536/112660) Row 28189657 (NC_000001.11:160134235::CACA 6921/112978) Row 28189658 (NC_000001.11:160134235::CACACA 18871/112810)...	-	Apr 25, 2021 (155)
61	Korean Genome Project Submission ignored due to conflicting rows: Row 2109927 (NC_000001.11:160134239::CA 555/1826) Row 2109928 (NC_000001.11:160134239::CACACA 345/1826) Row 2109929 (NC_000001.11:160134237:CA: 207/1826)...	-	Apr 25, 2020 (154)
62	Korean Genome Project Submission ignored due to conflicting rows: Row 2109927 (NC_000001.11:160134239::CA 555/1826) Row 2109928 (NC_000001.11:160134239::CACACA 345/1826) Row 2109929 (NC_000001.11:160134237:CA: 207/1826)...	-	Apr 25, 2020 (154)
63	Korean Genome Project Submission ignored due to conflicting rows: Row 2109927 (NC_000001.11:160134239::CA 555/1826) Row 2109928 (NC_000001.11:160134239::CACACA 345/1826) Row 2109929 (NC_000001.11:160134237:CA: 207/1826)...	-	Apr 25, 2020 (154)
64	Korean Genome Project Submission ignored due to conflicting rows: Row 2109927 (NC_000001.11:160134239::CA 555/1826) Row 2109928 (NC_000001.11:160134239::CACACA 345/1826) Row 2109929 (NC_000001.11:160134237:CA: 207/1826)...	-	Apr 25, 2020 (154)
65	Korean Genome Project Submission ignored due to conflicting rows: Row 2109927 (NC_000001.11:160134239::CA 555/1826) Row 2109928 (NC_000001.11:160134239::CACACA 345/1826) Row 2109929 (NC_000001.11:160134237:CA: 207/1826)...	-	Apr 25, 2020 (154)
66	8.3KJPN Submission ignored due to conflicting rows: Row 4630932 (NC_000001.10:160104025::CACACA 3623/16432) Row 4630933 (NC_000001.10:160104025:CA: 1960/16432) Row 4630934 (NC_000001.10:160104025::CA 4718/16432)...	-	Apr 25, 2021 (155)
67	8.3KJPN Submission ignored due to conflicting rows: Row 4630932 (NC_000001.10:160104025::CACACA 3623/16432) Row 4630933 (NC_000001.10:160104025:CA: 1960/16432) Row 4630934 (NC_000001.10:160104025::CA 4718/16432)...	-	Apr 25, 2021 (155)
68	8.3KJPN Submission ignored due to conflicting rows: Row 4630932 (NC_000001.10:160104025::CACACA 3623/16432) Row 4630933 (NC_000001.10:160104025:CA: 1960/16432) Row 4630934 (NC_000001.10:160104025::CA 4718/16432)...	-	Apr 25, 2021 (155)
69	8.3KJPN Submission ignored due to conflicting rows: Row 4630932 (NC_000001.10:160104025::CACACA 3623/16432) Row 4630933 (NC_000001.10:160104025:CA: 1960/16432) Row 4630934 (NC_000001.10:160104025::CA 4718/16432)...	-	Apr 25, 2021 (155)
70	8.3KJPN Submission ignored due to conflicting rows: Row 4630932 (NC_000001.10:160104025::CACACA 3623/16432) Row 4630933 (NC_000001.10:160104025:CA: 1960/16432) Row 4630934 (NC_000001.10:160104025::CA 4718/16432)...	-	Apr 25, 2021 (155)
71	14KJPN Submission ignored due to conflicting rows: Row 7750026 (NC_000001.11:160134235::CA 5809/20468) Row 7750027 (NC_000001.11:160134235::CACACA 4514/20468) Row 7750028 (NC_000001.11:160134235:CA: 2409/20468)...	-	Oct 12, 2022 (156)
72	14KJPN Submission ignored due to conflicting rows: Row 7750026 (NC_000001.11:160134235::CA 5809/20468) Row 7750027 (NC_000001.11:160134235::CACACA 4514/20468) Row 7750028 (NC_000001.11:160134235:CA: 2409/20468)...	-	Oct 12, 2022 (156)
73	14KJPN Submission ignored due to conflicting rows: Row 7750026 (NC_000001.11:160134235::CA 5809/20468) Row 7750027 (NC_000001.11:160134235::CACACA 4514/20468) Row 7750028 (NC_000001.11:160134235:CA: 2409/20468)...	-	Oct 12, 2022 (156)
74	14KJPN Submission ignored due to conflicting rows: Row 7750026 (NC_000001.11:160134235::CA 5809/20468) Row 7750027 (NC_000001.11:160134235::CACACA 4514/20468) Row 7750028 (NC_000001.11:160134235:CA: 2409/20468)...	-	Oct 12, 2022 (156)
75	ALFA	NC_000001.11 - 160134236	Apr 25, 2021 (155)
76	ClinVar	RCV001534234.2	Oct 12, 2022 (156)
77	ClinVar	RCV001594744.3	Oct 12, 2022 (156)
78	ClinVar	RCV001595210.3	Oct 12, 2022 (156)
79	ClinVar	RCV001620808.3	Oct 12, 2022 (156)

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
9721271028	NC_000001.11:160134235:CACACACACAC… NC_000001.11:160134235:CACACACACACACACACA:CACACACACA	NC_000001.11:160134235:CACACACACAC… NC_000001.11:160134235:CACACACACACACACACA:CACACACACA	(self)
ss4004416230	NC_000001.11:160134235:CACACA:	NC_000001.11:160134235:CACACACACAC… NC_000001.11:160134235:CACACACACACACACACA:CACACACACACA	(self)
9721271028	NC_000001.11:160134235:CACACACACAC… NC_000001.11:160134235:CACACACACACACACACA:CACACACACACA	NC_000001.11:160134235:CACACACACAC… NC_000001.11:160134235:CACACACACACACACACA:CACACACACACA	(self)
ss5146661629	NC_000001.10:160104025:CACA:	NC_000001.11:160134235:CACACACACAC… NC_000001.11:160134235:CACACACACACACACACA:CACACACACACACA	(self)
ss3945731930, ss4004416229	NC_000001.11:160134235:CACA:	NC_000001.11:160134235:CACACACACAC… NC_000001.11:160134235:CACACACACACACACACA:CACACACACACACA	(self)
9721271028	NC_000001.11:160134235:CACACACACAC… NC_000001.11:160134235:CACACACACACACACACA:CACACACACACACA	NC_000001.11:160134235:CACACACACAC… NC_000001.11:160134235:CACACACACACACACACA:CACACACACACACA	(self)
ss80883319	NC_000001.8:156917114:CA:	NC_000001.11:160134235:CACACACACAC… NC_000001.11:160134235:CACACACACACACACACA:CACACACACACACACA	(self)
ss288045513	NC_000001.9:158370649:CA:	NC_000001.11:160134235:CACACACACAC… NC_000001.11:160134235:CACACACACACACACACA:CACACACACACACACA	(self)
ss663125232, ss2987815300, ss5146661626, ss5832718202	NC_000001.10:160104025:CA:	NC_000001.11:160134235:CACACACACAC… NC_000001.11:160134235:CACACACACACACACACA:CACACACACACACACA	(self)
ss553782317	NC_000001.10:160104041:CA:	NC_000001.11:160134235:CACACACACAC… NC_000001.11:160134235:CACACACACACACACACA:CACACACACACACACA	(self)
ss4004416228, ss5445002329, ss5673912924	NC_000001.11:160134235:CA:	NC_000001.11:160134235:CACACACACAC… NC_000001.11:160134235:CACACACACACACACACA:CACACACACACACACA	(self)
RCV001595210.3, 9721271028	NC_000001.11:160134235:CACACACACAC… NC_000001.11:160134235:CACACACACACACACACA:CACACACACACACACA	NC_000001.11:160134235:CACACACACAC… NC_000001.11:160134235:CACACACACACACACACA:CACACACACACACACA	(self)
ss3945731928	NC_000001.11:160134237:CA:	NC_000001.11:160134235:CACACACACAC… NC_000001.11:160134235:CACACACACACACACACA:CACACACACACACACA	(self)
ss193131519	NT_004487.20:16949648:CA:	NC_000001.11:160134235:CACACACACAC… NC_000001.11:160134235:CACACACACACACACACA:CACACACACACACACA	(self)
ss326090520, ss326093642	NC_000001.9:158370649::CA	NC_000001.11:160134235:CACACACACAC… NC_000001.11:160134235:CACACACACACACACACA:CACACACACACACACACACA	(self)
3877370, ss1367868363, ss1536249589, ss3783577278, ss3789206878, ss3794078890, ss5146661627, ss5832718200, ss5979992777	NC_000001.10:160104025::CA	NC_000001.11:160134235:CACACACACAC… NC_000001.11:160134235:CACACACACACACACACA:CACACACACACACACACACA	(self)
ss3836617104	NC_000001.10:160104027::CA	NC_000001.11:160134235:CACACACACAC… NC_000001.11:160134235:CACACACACACACACACA:CACACACACACACACACACA	(self)
ss3063610601, ss3799855310, ss4004416220, ss5244426265, ss5445002328, ss5673912922	NC_000001.11:160134235::CA	NC_000001.11:160134235:CACACACACAC… NC_000001.11:160134235:CACACACACACACACACA:CACACACACACACACACACA	(self)
RCV001534234.2, 9721271028	NC_000001.11:160134235:CACACACACAC… NC_000001.11:160134235:CACACACACACACACACA:CACACACACACACACACACA	NC_000001.11:160134235:CACACACACAC… NC_000001.11:160134235:CACACACACACACACACA:CACACACACACACACACACA	(self)
ss3842026571	NC_000001.11:160134237::CA	NC_000001.11:160134235:CACACACACAC… NC_000001.11:160134235:CACACACACACACACACA:CACACACACACACACACACA	(self)
ss3945731926	NC_000001.11:160134239::CA	NC_000001.11:160134235:CACACACACAC… NC_000001.11:160134235:CACACACACACACACACA:CACACACACACACACACACA	(self)
ss3826444555, ss5146661628	NC_000001.10:160104025::CACA	NC_000001.11:160134235:CACACACACAC… NC_000001.11:160134235:CACACACACACACACACA:CACACACACACACACACACACA	(self)
ss3063610602, ss4004416221, ss5445002327, ss5673912926	NC_000001.11:160134235::CACA	NC_000001.11:160134235:CACACACACAC… NC_000001.11:160134235:CACACACACACACACACA:CACACACACACACACACACACA	(self)
RCV001620808.3, 9721271028	NC_000001.11:160134235:CACACACACAC… NC_000001.11:160134235:CACACACACACACACACA:CACACACACACACACACACACA	NC_000001.11:160134235:CACACACACAC… NC_000001.11:160134235:CACACACACACACACACA:CACACACACACACACACACACA	(self)
ss3945731929	NC_000001.11:160134239::CACA	NC_000001.11:160134235:CACACACACAC… NC_000001.11:160134235:CACACACACACACACACA:CACACACACACACACACACACA	(self)
ss5146661625, ss5832718201	NC_000001.10:160104025::CACACA	NC_000001.11:160134235:CACACACACAC… NC_000001.11:160134235:CACACACACACACACACA:CACACACACACACACACACACACA	(self)
ss4004416222, ss5244426266, ss5445002326, ss5673912923	NC_000001.11:160134235::CACACA	NC_000001.11:160134235:CACACACACAC… NC_000001.11:160134235:CACACACACACACACACA:CACACACACACACACACACACACA	(self)
RCV001594744.3, 9721271028	NC_000001.11:160134235:CACACACACAC… NC_000001.11:160134235:CACACACACACACACACA:CACACACACACACACACACACACA	NC_000001.11:160134235:CACACACACAC… NC_000001.11:160134235:CACACACACACACACACA:CACACACACACACACACACACACA	(self)
ss3945731927	NC_000001.11:160134239::CACACA	NC_000001.11:160134235:CACACACACAC… NC_000001.11:160134235:CACACACACACACACACA:CACACACACACACACACACACACA	(self)
ss4004416223	NC_000001.11:160134235::CACACACA	NC_000001.11:160134235:CACACACACAC… NC_000001.11:160134235:CACACACACACACACACA:CACACACACACACACACACACACACA	(self)
9721271028	NC_000001.11:160134235:CACACACACAC… NC_000001.11:160134235:CACACACACACACACACA:CACACACACACACACACACACACACA	NC_000001.11:160134235:CACACACACAC… NC_000001.11:160134235:CACACACACACACACACA:CACACACACACACACACACACACACA	(self)
ss4004416224	NC_000001.11:160134235::CACACACACA	NC_000001.11:160134235:CACACACACAC… NC_000001.11:160134235:CACACACACACACACACA:CACACACACACACACACACACACACACA	(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 rs146388527

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

rs146388527