Name: rs112709297
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.

rs112709297

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:160122421-160122435 (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 / dupAAA / dup(A)₄ / dup(A)₅ / dup(A)₆ / dup(A)₈ / dup(A)₉ / dup(A)₁₀ / dup(A)₁₄
Variation Type: Indel Insertion and Deletion
Frequency: delAA=0.0000 (0/1172, ALFA)
delA=0.0000 (0/1172, ALFA)
dupA=0.0000 (0/1172, ALFA) (+ 3 more)
dupAA=0.0000 (0/1172, ALFA)
dupAAA=0.0000 (0/1172, ALFA)
dup(A)₄=0.0000 (0/1172, ALFA)

Clinical Significance: Not 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	HWEP
Total	Global	1172	AAAAAAAAAAAAAAA=1.0000	AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
European	Sub	312	AAAAAAAAAAAAAAA=1.000	AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A
African	Sub	696	AAAAAAAAAAAAAAA=1.000	AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A
African Others	Sub	28	AAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
African American	Sub	668	AAAAAAAAAAAAAAA=1.000	AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A
Asian	Sub	10	AAAAAAAAAAAAAAA=1.0	AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0	1.0	N/A
East Asian	Sub	4	AAAAAAAAAAAAAAA=1.0	AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0	1.0	N/A
Other Asian	Sub	6	AAAAAAAAAAAAAAA=1.0	AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0	1.0	N/A
Latin American 1	Sub	20	AAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Latin American 2	Sub	74	AAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
South Asian	Sub	6	AAAAAAAAAAAAAAA=1.0	AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0	1.0	N/A
Other	Sub	54	AAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=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").

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	1172	(A)₁₅=1.0000	delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000, dup(A)₄=0.0000
Allele Frequency Aggregator	African	Sub	696	(A)₁₅=1.000	delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₄=0.000
Allele Frequency Aggregator	European	Sub	312	(A)₁₅=1.000	delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₄=0.000
Allele Frequency Aggregator	Latin American 2	Sub	74	(A)₁₅=1.00	delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₄=0.00
Allele Frequency Aggregator	Other	Sub	54	(A)₁₅=1.00	delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₄=0.00
Allele Frequency Aggregator	Latin American 1	Sub	20	(A)₁₅=1.00	delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₄=0.00
Allele Frequency Aggregator	Asian	Sub	10	(A)₁₅=1.0	delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0, dup(A)₄=0.0
Allele Frequency Aggregator	South Asian	Sub	6	(A)₁₅=1.0	delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0, dup(A)₄=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 1	NC_000001.11:g.160122433_160122435del
GRCh38.p14 chr 1	NC_000001.11:g.160122434_160122435del
GRCh38.p14 chr 1	NC_000001.11:g.160122435del
GRCh38.p14 chr 1	NC_000001.11:g.160122435dup
GRCh38.p14 chr 1	NC_000001.11:g.160122434_160122435dup
GRCh38.p14 chr 1	NC_000001.11:g.160122433_160122435dup
GRCh38.p14 chr 1	NC_000001.11:g.160122432_160122435dup
GRCh38.p14 chr 1	NC_000001.11:g.160122431_160122435dup
GRCh38.p14 chr 1	NC_000001.11:g.160122430_160122435dup
GRCh38.p14 chr 1	NC_000001.11:g.160122428_160122435dup
GRCh38.p14 chr 1	NC_000001.11:g.160122427_160122435dup
GRCh38.p14 chr 1	NC_000001.11:g.160122426_160122435dup
GRCh38.p14 chr 1	NC_000001.11:g.160122422_160122435dup
GRCh37.p13 chr 1	NC_000001.10:g.160092223_160092225del
GRCh37.p13 chr 1	NC_000001.10:g.160092224_160092225del
GRCh37.p13 chr 1	NC_000001.10:g.160092225del
GRCh37.p13 chr 1	NC_000001.10:g.160092225dup
GRCh37.p13 chr 1	NC_000001.10:g.160092224_160092225dup
GRCh37.p13 chr 1	NC_000001.10:g.160092223_160092225dup
GRCh37.p13 chr 1	NC_000001.10:g.160092222_160092225dup
GRCh37.p13 chr 1	NC_000001.10:g.160092221_160092225dup
GRCh37.p13 chr 1	NC_000001.10:g.160092220_160092225dup
GRCh37.p13 chr 1	NC_000001.10:g.160092218_160092225dup
GRCh37.p13 chr 1	NC_000001.10:g.160092217_160092225dup
GRCh37.p13 chr 1	NC_000001.10:g.160092216_160092225dup
GRCh37.p13 chr 1	NC_000001.10:g.160092212_160092225dup
ATP1A2 RefSeqGene (LRG_6)	NG_008014.1:g.11676_11678del
ATP1A2 RefSeqGene (LRG_6)	NG_008014.1:g.11677_11678del
ATP1A2 RefSeqGene (LRG_6)	NG_008014.1:g.11678del
ATP1A2 RefSeqGene (LRG_6)	NG_008014.1:g.11678dup
ATP1A2 RefSeqGene (LRG_6)	NG_008014.1:g.11677_11678dup
ATP1A2 RefSeqGene (LRG_6)	NG_008014.1:g.11676_11678dup
ATP1A2 RefSeqGene (LRG_6)	NG_008014.1:g.11675_11678dup
ATP1A2 RefSeqGene (LRG_6)	NG_008014.1:g.11674_11678dup
ATP1A2 RefSeqGene (LRG_6)	NG_008014.1:g.11673_11678dup
ATP1A2 RefSeqGene (LRG_6)	NG_008014.1:g.11671_11678dup
ATP1A2 RefSeqGene (LRG_6)	NG_008014.1:g.11670_11678dup
ATP1A2 RefSeqGene (LRG_6)	NG_008014.1:g.11669_11678dup
ATP1A2 RefSeqGene (LRG_6)	NG_008014.1:g.11665_11678dup

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.178-780_178… NM_000702.4:c.178-780_178-778del	N/A	Intron Variant
ATP1A2 transcript variant X1	XM_047421286.1: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	(A)₁₅=	delAAA	delAA	delA	dupA	dupAA	dupAAA	dup(A)₄	dup(A)₅	dup(A)₆	dup(A)₈	dup(A)₉	dup(A)₁₀	dup(A)₁₄
GRCh38.p14 chr 1	NC_000001.11:g.160122421_160122435=	NC_000001.11:g.160122433_160122435del	NC_000001.11:g.160122434_160122435del	NC_000001.11:g.160122435del	NC_000001.11:g.160122435dup	NC_000001.11:g.160122434_160122435dup	NC_000001.11:g.160122433_160122435dup	NC_000001.11:g.160122432_160122435dup	NC_000001.11:g.160122431_160122435dup	NC_000001.11:g.160122430_160122435dup	NC_000001.11:g.160122428_160122435dup	NC_000001.11:g.160122427_160122435dup	NC_000001.11:g.160122426_160122435dup	NC_000001.11:g.160122422_160122435dup
GRCh37.p13 chr 1	NC_000001.10:g.160092211_160092225=	NC_000001.10:g.160092223_160092225del	NC_000001.10:g.160092224_160092225del	NC_000001.10:g.160092225del	NC_000001.10:g.160092225dup	NC_000001.10:g.160092224_160092225dup	NC_000001.10:g.160092223_160092225dup	NC_000001.10:g.160092222_160092225dup	NC_000001.10:g.160092221_160092225dup	NC_000001.10:g.160092220_160092225dup	NC_000001.10:g.160092218_160092225dup	NC_000001.10:g.160092217_160092225dup	NC_000001.10:g.160092216_160092225dup	NC_000001.10:g.160092212_160092225dup
ATP1A2 RefSeqGene (LRG_6)	NG_008014.1:g.11664_11678=	NG_008014.1:g.11676_11678del	NG_008014.1:g.11677_11678del	NG_008014.1:g.11678del	NG_008014.1:g.11678dup	NG_008014.1:g.11677_11678dup	NG_008014.1:g.11676_11678dup	NG_008014.1:g.11675_11678dup	NG_008014.1:g.11674_11678dup	NG_008014.1:g.11673_11678dup	NG_008014.1:g.11671_11678dup	NG_008014.1:g.11670_11678dup	NG_008014.1:g.11669_11678dup	NG_008014.1:g.11665_11678dup
ATP1A2 transcript	NM_000702.3:c.178-792=	NM_000702.3:c.178-780_178-778del	NM_000702.3:c.178-779_178-778del	NM_000702.3:c.178-778del	NM_000702.3:c.178-778dup	NM_000702.3:c.178-779_178-778dup	NM_000702.3:c.178-780_178-778dup	NM_000702.3:c.178-781_178-778dup	NM_000702.3:c.178-782_178-778dup	NM_000702.3:c.178-783_178-778dup	NM_000702.3:c.178-785_178-778dup	NM_000702.3:c.178-786_178-778dup	NM_000702.3:c.178-787_178-778dup	NM_000702.3:c.178-791_178-778dup
ATP1A2 transcript	NM_000702.4:c.178-792=	NM_000702.4:c.178-780_178-778del	NM_000702.4:c.178-779_178-778del	NM_000702.4:c.178-778del	NM_000702.4:c.178-778dup	NM_000702.4:c.178-779_178-778dup	NM_000702.4:c.178-780_178-778dup	NM_000702.4:c.178-781_178-778dup	NM_000702.4:c.178-782_178-778dup	NM_000702.4:c.178-783_178-778dup	NM_000702.4:c.178-785_178-778dup	NM_000702.4:c.178-786_178-778dup	NM_000702.4:c.178-787_178-778dup	NM_000702.4:c.178-791_178-778dup

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#.

58 SubSNP, 36 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	BUSHMAN	ss193131509	Jul 04, 2010 (132)
2	GMI	ss288045505	May 04, 2012 (137)
3	GMI	ss288045507	May 04, 2012 (138)
4	EVA_UK10K_ALSPAC	ss1701299259	Apr 01, 2015 (144)
5	EVA_UK10K_TWINSUK	ss1701299845	Apr 01, 2015 (144)
6	EVA_UK10K_TWINSUK	ss1709952290	Oct 11, 2018 (152)
7	EVA_UK10K_TWINSUK	ss1709952292	Oct 11, 2018 (152)
8	EVA_UK10K_ALSPAC	ss1709952296	Oct 11, 2018 (152)
9	EVA_UK10K_ALSPAC	ss1709952297	Oct 11, 2018 (152)
10	HAMMER_LAB	ss1795142777	Sep 08, 2015 (146)
11	HAMMER_LAB	ss1795142780	Sep 08, 2015 (146)
12	SWEGEN	ss2987815161	Jan 10, 2018 (151)
13	EVA_DECODE	ss3687858497	Jul 12, 2019 (153)
14	EVA_DECODE	ss3687858498	Jul 12, 2019 (153)
15	EVA_DECODE	ss3687858499	Jul 12, 2019 (153)
16	EVA_DECODE	ss3687858500	Jul 12, 2019 (153)
17	EVA_DECODE	ss3687858501	Jul 12, 2019 (153)
18	EVA_DECODE	ss3687858502	Jul 12, 2019 (153)
19	ACPOP	ss3727518023	Jul 12, 2019 (153)
20	ACPOP	ss3727518024	Jul 12, 2019 (153)
21	ACPOP	ss3727518025	Jul 12, 2019 (153)
22	PACBIO	ss3783577254	Jul 12, 2019 (153)
23	EVA	ss3826444519	Apr 25, 2020 (154)
24	KOGIC	ss3945731757	Apr 25, 2020 (154)
25	KOGIC	ss3945731758	Apr 25, 2020 (154)
26	KOGIC	ss3945731759	Apr 25, 2020 (154)
27	KOGIC	ss3945731760	Apr 25, 2020 (154)
28	GNOMAD	ss4004414809	Apr 25, 2021 (155)
29	GNOMAD	ss4004414810	Apr 25, 2021 (155)
30	GNOMAD	ss4004414811	Apr 25, 2021 (155)
31	GNOMAD	ss4004414812	Apr 25, 2021 (155)
32	GNOMAD	ss4004414813	Apr 25, 2021 (155)
33	GNOMAD	ss4004414814	Apr 25, 2021 (155)
34	GNOMAD	ss4004414815	Apr 25, 2021 (155)
35	GNOMAD	ss4004414816	Apr 25, 2021 (155)
36	GNOMAD	ss4004414817	Apr 25, 2021 (155)
37	GNOMAD	ss4004414819	Apr 25, 2021 (155)
38	GNOMAD	ss4004414820	Apr 25, 2021 (155)
39	GNOMAD	ss4004414821	Apr 25, 2021 (155)
40	TOMMO_GENOMICS	ss5146661254	Apr 25, 2021 (155)
41	TOMMO_GENOMICS	ss5146661255	Apr 25, 2021 (155)
42	TOMMO_GENOMICS	ss5146661256	Apr 25, 2021 (155)
43	TOMMO_GENOMICS	ss5146661257	Apr 25, 2021 (155)
44	TOMMO_GENOMICS	ss5146661258	Apr 25, 2021 (155)
45	1000G_HIGH_COVERAGE	ss5244425976	Oct 12, 2022 (156)
46	1000G_HIGH_COVERAGE	ss5244425977	Oct 12, 2022 (156)
47	1000G_HIGH_COVERAGE	ss5244425978	Oct 12, 2022 (156)
48	HUGCELL_USP	ss5445002093	Oct 12, 2022 (156)
49	HUGCELL_USP	ss5445002094	Oct 12, 2022 (156)
50	HUGCELL_USP	ss5445002095	Oct 12, 2022 (156)
51	TOMMO_GENOMICS	ss5673912439	Oct 12, 2022 (156)
52	TOMMO_GENOMICS	ss5673912440	Oct 12, 2022 (156)
53	TOMMO_GENOMICS	ss5673912441	Oct 12, 2022 (156)
54	TOMMO_GENOMICS	ss5673912442	Oct 12, 2022 (156)
55	TOMMO_GENOMICS	ss5673912443	Oct 12, 2022 (156)
56	EVA	ss5832718085	Oct 12, 2022 (156)
57	EVA	ss5832718086	Oct 12, 2022 (156)
58	EVA	ss5832718087	Oct 12, 2022 (156)
59	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 2110750 (NC_000001.10:160092210::A 1222/3854) Row 2110751 (NC_000001.10:160092210::AA 1352/3854) Row 2110752 (NC_000001.10:160092210:A: 703/3854)	-	Oct 11, 2018 (152)
60	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 2110750 (NC_000001.10:160092210::A 1222/3854) Row 2110751 (NC_000001.10:160092210::AA 1352/3854) Row 2110752 (NC_000001.10:160092210:A: 703/3854)	-	Oct 11, 2018 (152)
61	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 2110750 (NC_000001.10:160092210::A 1222/3854) Row 2110751 (NC_000001.10:160092210::AA 1352/3854) Row 2110752 (NC_000001.10:160092210:A: 703/3854)	-	Oct 11, 2018 (152)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 28187275 (NC_000001.11:160122420::A 33372/125728) Row 28187276 (NC_000001.11:160122420::AA 36870/125648) Row 28187277 (NC_000001.11:160122420::AAA 42/125858)...	-	Apr 25, 2021 (155)
63	gnomAD - Genomes Submission ignored due to conflicting rows: Row 28187275 (NC_000001.11:160122420::A 33372/125728) Row 28187276 (NC_000001.11:160122420::AA 36870/125648) Row 28187277 (NC_000001.11:160122420::AAA 42/125858)...	-	Apr 25, 2021 (155)
64	gnomAD - Genomes Submission ignored due to conflicting rows: Row 28187275 (NC_000001.11:160122420::A 33372/125728) Row 28187276 (NC_000001.11:160122420::AA 36870/125648) Row 28187277 (NC_000001.11:160122420::AAA 42/125858)...	-	Apr 25, 2021 (155)
65	gnomAD - Genomes Submission ignored due to conflicting rows: Row 28187275 (NC_000001.11:160122420::A 33372/125728) Row 28187276 (NC_000001.11:160122420::AA 36870/125648) Row 28187277 (NC_000001.11:160122420::AAA 42/125858)...	-	Apr 25, 2021 (155)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 28187275 (NC_000001.11:160122420::A 33372/125728) Row 28187276 (NC_000001.11:160122420::AA 36870/125648) Row 28187277 (NC_000001.11:160122420::AAA 42/125858)...	-	Apr 25, 2021 (155)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 28187275 (NC_000001.11:160122420::A 33372/125728) Row 28187276 (NC_000001.11:160122420::AA 36870/125648) Row 28187277 (NC_000001.11:160122420::AAA 42/125858)...	-	Apr 25, 2021 (155)
68	gnomAD - Genomes Submission ignored due to conflicting rows: Row 28187275 (NC_000001.11:160122420::A 33372/125728) Row 28187276 (NC_000001.11:160122420::AA 36870/125648) Row 28187277 (NC_000001.11:160122420::AAA 42/125858)...	-	Apr 25, 2021 (155)
69	gnomAD - Genomes Submission ignored due to conflicting rows: Row 28187275 (NC_000001.11:160122420::A 33372/125728) Row 28187276 (NC_000001.11:160122420::AA 36870/125648) Row 28187277 (NC_000001.11:160122420::AAA 42/125858)...	-	Apr 25, 2021 (155)
70	gnomAD - Genomes Submission ignored due to conflicting rows: Row 28187275 (NC_000001.11:160122420::A 33372/125728) Row 28187276 (NC_000001.11:160122420::AA 36870/125648) Row 28187277 (NC_000001.11:160122420::AAA 42/125858)...	-	Apr 25, 2021 (155)
71	gnomAD - Genomes Submission ignored due to conflicting rows: Row 28187275 (NC_000001.11:160122420::A 33372/125728) Row 28187276 (NC_000001.11:160122420::AA 36870/125648) Row 28187277 (NC_000001.11:160122420::AAA 42/125858)...	-	Apr 25, 2021 (155)
72	gnomAD - Genomes Submission ignored due to conflicting rows: Row 28187275 (NC_000001.11:160122420::A 33372/125728) Row 28187276 (NC_000001.11:160122420::AA 36870/125648) Row 28187277 (NC_000001.11:160122420::AAA 42/125858)...	-	Apr 25, 2021 (155)
73	gnomAD - Genomes Submission ignored due to conflicting rows: Row 28187275 (NC_000001.11:160122420::A 33372/125728) Row 28187276 (NC_000001.11:160122420::AA 36870/125648) Row 28187277 (NC_000001.11:160122420::AAA 42/125858)...	-	Apr 25, 2021 (155)
74	Korean Genome Project Submission ignored due to conflicting rows: Row 2109758 (NC_000001.11:160122421:A: 410/1828) Row 2109759 (NC_000001.11:160122422::AA 484/1828) Row 2109760 (NC_000001.11:160122422::A 308/1828)...	-	Apr 25, 2020 (154)
75	Korean Genome Project Submission ignored due to conflicting rows: Row 2109758 (NC_000001.11:160122421:A: 410/1828) Row 2109759 (NC_000001.11:160122422::AA 484/1828) Row 2109760 (NC_000001.11:160122422::A 308/1828)...	-	Apr 25, 2020 (154)
76	Korean Genome Project Submission ignored due to conflicting rows: Row 2109758 (NC_000001.11:160122421:A: 410/1828) Row 2109759 (NC_000001.11:160122422::AA 484/1828) Row 2109760 (NC_000001.11:160122422::A 308/1828)...	-	Apr 25, 2020 (154)
77	Korean Genome Project Submission ignored due to conflicting rows: Row 2109758 (NC_000001.11:160122421:A: 410/1828) Row 2109759 (NC_000001.11:160122422::AA 484/1828) Row 2109760 (NC_000001.11:160122422::A 308/1828)...	-	Apr 25, 2020 (154)
78	Northern Sweden Submission ignored due to conflicting rows: Row 802888 (NC_000001.10:160092210:A: 96/504) Row 802889 (NC_000001.10:160092210::A 87/504) Row 802890 (NC_000001.10:160092210::AA 129/504)	-	Jul 12, 2019 (153)
79	Northern Sweden Submission ignored due to conflicting rows: Row 802888 (NC_000001.10:160092210:A: 96/504) Row 802889 (NC_000001.10:160092210::A 87/504) Row 802890 (NC_000001.10:160092210::AA 129/504)	-	Jul 12, 2019 (153)
80	Northern Sweden Submission ignored due to conflicting rows: Row 802888 (NC_000001.10:160092210:A: 96/504) Row 802889 (NC_000001.10:160092210::A 87/504) Row 802890 (NC_000001.10:160092210::AA 129/504)	-	Jul 12, 2019 (153)
81	8.3KJPN Submission ignored due to conflicting rows: Row 4630561 (NC_000001.10:160092210:A: 4153/16742) Row 4630562 (NC_000001.10:160092210::A 2472/16742) Row 4630563 (NC_000001.10:160092210::AA 4564/16742)...	-	Apr 25, 2021 (155)
82	8.3KJPN Submission ignored due to conflicting rows: Row 4630561 (NC_000001.10:160092210:A: 4153/16742) Row 4630562 (NC_000001.10:160092210::A 2472/16742) Row 4630563 (NC_000001.10:160092210::AA 4564/16742)...	-	Apr 25, 2021 (155)
83	8.3KJPN Submission ignored due to conflicting rows: Row 4630561 (NC_000001.10:160092210:A: 4153/16742) Row 4630562 (NC_000001.10:160092210::A 2472/16742) Row 4630563 (NC_000001.10:160092210::AA 4564/16742)...	-	Apr 25, 2021 (155)
84	8.3KJPN Submission ignored due to conflicting rows: Row 4630561 (NC_000001.10:160092210:A: 4153/16742) Row 4630562 (NC_000001.10:160092210::A 2472/16742) Row 4630563 (NC_000001.10:160092210::AA 4564/16742)...	-	Apr 25, 2021 (155)
85	8.3KJPN Submission ignored due to conflicting rows: Row 4630561 (NC_000001.10:160092210:A: 4153/16742) Row 4630562 (NC_000001.10:160092210::A 2472/16742) Row 4630563 (NC_000001.10:160092210::AA 4564/16742)...	-	Apr 25, 2021 (155)
86	14KJPN Submission ignored due to conflicting rows: Row 7749543 (NC_000001.11:160122420:A: 7097/28256) Row 7749544 (NC_000001.11:160122420::AA 7798/28256) Row 7749545 (NC_000001.11:160122420::A 4128/28256)...	-	Oct 12, 2022 (156)
87	14KJPN Submission ignored due to conflicting rows: Row 7749543 (NC_000001.11:160122420:A: 7097/28256) Row 7749544 (NC_000001.11:160122420::AA 7798/28256) Row 7749545 (NC_000001.11:160122420::A 4128/28256)...	-	Oct 12, 2022 (156)
88	14KJPN Submission ignored due to conflicting rows: Row 7749543 (NC_000001.11:160122420:A: 7097/28256) Row 7749544 (NC_000001.11:160122420::AA 7798/28256) Row 7749545 (NC_000001.11:160122420::A 4128/28256)...	-	Oct 12, 2022 (156)
89	14KJPN Submission ignored due to conflicting rows: Row 7749543 (NC_000001.11:160122420:A: 7097/28256) Row 7749544 (NC_000001.11:160122420::AA 7798/28256) Row 7749545 (NC_000001.11:160122420::A 4128/28256)...	-	Oct 12, 2022 (156)
90	14KJPN Submission ignored due to conflicting rows: Row 7749543 (NC_000001.11:160122420:A: 7097/28256) Row 7749544 (NC_000001.11:160122420::AA 7798/28256) Row 7749545 (NC_000001.11:160122420::A 4128/28256)...	-	Oct 12, 2022 (156)
91	UK 10K study - Twins Submission ignored due to conflicting rows: Row 2110750 (NC_000001.10:160092210::A 1117/3708) Row 2110751 (NC_000001.10:160092210::AA 1353/3708) Row 2110752 (NC_000001.10:160092210:A: 607/3708)	-	Oct 11, 2018 (152)
92	UK 10K study - Twins Submission ignored due to conflicting rows: Row 2110750 (NC_000001.10:160092210::A 1117/3708) Row 2110751 (NC_000001.10:160092210::AA 1353/3708) Row 2110752 (NC_000001.10:160092210:A: 607/3708)	-	Oct 11, 2018 (152)
93	UK 10K study - Twins Submission ignored due to conflicting rows: Row 2110750 (NC_000001.10:160092210::A 1117/3708) Row 2110751 (NC_000001.10:160092210::AA 1353/3708) Row 2110752 (NC_000001.10:160092210:A: 607/3708)	-	Oct 11, 2018 (152)
94	ALFA	NC_000001.11 - 160122421	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).

Associated ID	History Updated (Build)
rs201998613	May 15, 2013 (138)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4004414821	NC_000001.11:160122420:AAA:	NC_000001.11:160122420:AAAAAAAAAAA… NC_000001.11:160122420:AAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss2987815161, ss5146661258	NC_000001.10:160092210:AA:	NC_000001.11:160122420:AAAAAAAAAAA… NC_000001.11:160122420:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss3687858502, ss3945731760, ss4004414820, ss5673912443	NC_000001.11:160122420:AA:	NC_000001.11:160122420:AAAAAAAAAAA… NC_000001.11:160122420:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
9766454553	NC_000001.11:160122420:AAAAAAAAAAA… NC_000001.11:160122420:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000001.11:160122420:AAAAAAAAAAA… NC_000001.11:160122420:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss288045505	NC_000001.9:158358834:A:	NC_000001.11:160122420:AAAAAAAAAAA… NC_000001.11:160122420:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss1701299259, ss1701299845, ss1795142780, ss3727518023, ss3783577254, ss5146661254, ss5832718087	NC_000001.10:160092210:A:	NC_000001.11:160122420:AAAAAAAAAAA… NC_000001.11:160122420:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss4004414819, ss5244425976, ss5445002093, ss5673912439	NC_000001.11:160122420:A:	NC_000001.11:160122420:AAAAAAAAAAA… NC_000001.11:160122420:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
9766454553	NC_000001.11:160122420:AAAAAAAAAAA… NC_000001.11:160122420:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000001.11:160122420:AAAAAAAAAAA… NC_000001.11:160122420:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss3687858501, ss3945731757	NC_000001.11:160122421:A:	NC_000001.11:160122420:AAAAAAAAAAA… NC_000001.11:160122420:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss288045507	NC_000001.9:158358849::A	NC_000001.11:160122420:AAAAAAAAAAA… NC_000001.11:160122420:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3727518024, ss3826444519, ss5146661255, ss5832718086	NC_000001.10:160092210::A	NC_000001.11:160122420:AAAAAAAAAAA… NC_000001.11:160122420:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss1709952290, ss1709952296	NC_000001.10:160092211::A	NC_000001.11:160122420:AAAAAAAAAAA… NC_000001.11:160122420:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss4004414809, ss5244425978, ss5445002094, ss5673912441	NC_000001.11:160122420::A	NC_000001.11:160122420:AAAAAAAAAAA… NC_000001.11:160122420:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
9766454553	NC_000001.11:160122420:AAAAAAAAAAA… NC_000001.11:160122420:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000001.11:160122420:AAAAAAAAAAA… NC_000001.11:160122420:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3687858500, ss3945731759	NC_000001.11:160122422::A	NC_000001.11:160122420:AAAAAAAAAAA… NC_000001.11:160122420:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss193131509	NT_004487.20:16937833::A	NC_000001.11:160122420:AAAAAAAAAAA… NC_000001.11:160122420:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss1795142777, ss3727518025, ss5146661256, ss5832718085	NC_000001.10:160092210::AA	NC_000001.11:160122420:AAAAAAAAAAA… NC_000001.11:160122420:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss1709952292, ss1709952297	NC_000001.10:160092211::AA	NC_000001.11:160122420:AAAAAAAAAAA… NC_000001.11:160122420:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4004414810, ss5244425977, ss5445002095, ss5673912440	NC_000001.11:160122420::AA	NC_000001.11:160122420:AAAAAAAAAAA… NC_000001.11:160122420:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
9766454553	NC_000001.11:160122420:AAAAAAAAAAA… NC_000001.11:160122420:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000001.11:160122420:AAAAAAAAAAA… NC_000001.11:160122420:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3687858499, ss3945731758	NC_000001.11:160122422::AA	NC_000001.11:160122420:AAAAAAAAAAA… NC_000001.11:160122420:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss5146661257	NC_000001.10:160092210::AAA	NC_000001.11:160122420:AAAAAAAAAAA… NC_000001.11:160122420:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss4004414811, ss5673912442	NC_000001.11:160122420::AAA	NC_000001.11:160122420:AAAAAAAAAAA… NC_000001.11:160122420:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
9766454553	NC_000001.11:160122420:AAAAAAAAAAA… NC_000001.11:160122420:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000001.11:160122420:AAAAAAAAAAA… NC_000001.11:160122420:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss3687858498	NC_000001.11:160122422::AAA	NC_000001.11:160122420:AAAAAAAAAAA… NC_000001.11:160122420:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
9766454553	NC_000001.11:160122420:AAAAAAAAAAA… NC_000001.11:160122420:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000001.11:160122420:AAAAAAAAAAA… NC_000001.11:160122420:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss4004414812	NC_000001.11:160122420::AAAAA	NC_000001.11:160122420:AAAAAAAAAAA… NC_000001.11:160122420:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss4004414813	NC_000001.11:160122420::AAAAAA	NC_000001.11:160122420:AAAAAAAAAAA… NC_000001.11:160122420:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss3687858497	NC_000001.11:160122422::AAAAAA	NC_000001.11:160122420:AAAAAAAAAAA… NC_000001.11:160122420:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss4004414814	NC_000001.11:160122420::AAAAAAAA	NC_000001.11:160122420:AAAAAAAAAAA… NC_000001.11:160122420:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4004414815	NC_000001.11:160122420::AAAAAAAAA	NC_000001.11:160122420:AAAAAAAAAAA… NC_000001.11:160122420:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4004414816	NC_000001.11:160122420::AAAAAAAAAA	NC_000001.11:160122420:AAAAAAAAAAA… NC_000001.11:160122420:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4004414817	NC_000001.11:160122420::AAAAAAAAAA… NC_000001.11:160122420::AAAAAAAAAAAAAA	NC_000001.11:160122420:AAAAAAAAAAA… NC_000001.11:160122420:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(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 rs112709297

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

rs112709297