Name: rs397690702
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.

rs397690702

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr3:49095570-49095587 (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)₇ / del(A)₆ / del(A)₅ / delA…
del(A)₇ / del(A)₆ / del(A)₅ / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)₄
Variation Type: Indel Insertion and Deletion
Frequency: (A)₁₈=0.4874 (2441/5008, 1000G)
del(A)₇=0.0000 (0/1438, ALFA)
del(A)₆=0.0000 (0/1438, ALFA) (+ 7 more)
del(A)₅=0.0000 (0/1438, ALFA)
delAA=0.0000 (0/1438, ALFA)
delA=0.0000 (0/1438, ALFA)
dupA=0.0000 (0/1438, ALFA)
dupAA=0.0000 (0/1438, ALFA)
dupAAA=0.0000 (0/1438, ALFA)
dup(A)₄=0.0000 (0/1438, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: QRICH1 : 2KB Upstream Variant
QARS1 : 500B Downstream 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	1438	AAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	0.0	0.0	N/A
European	Sub	984	AAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
African	Sub	382	AAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
African Others	Sub	16	AAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African American	Sub	366	AAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
Asian	Sub	2	AAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
East Asian	Sub	0	AAAAAAAAAAAAAAAAAA=0	AAAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Other Asian	Sub	2	AAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Latin American 1	Sub	30	AAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	14	AAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
South Asian	Sub	0	AAAAAAAAAAAAAAAAAA=0	AAAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Other	Sub	26	AAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	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
1000Genomes	Global	Study-wide	5008	- No frequency provided	dupA=0.5126
1000Genomes	African	Sub	1322	- No frequency provided	dupA=0.4440
1000Genomes	East Asian	Sub	1008	- No frequency provided	dupA=0.6200
1000Genomes	Europe	Sub	1006	- No frequency provided	dupA=0.4642
1000Genomes	South Asian	Sub	978	- No frequency provided	dupA=0.582
1000Genomes	American	Sub	694	- No frequency provided	dupA=0.460
Allele Frequency Aggregator	Total	Global	1438	(A)₁₈=1.0000	del(A)₇=0.0000, del(A)₆=0.0000, del(A)₅=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000, dup(A)₄=0.0000
Allele Frequency Aggregator	European	Sub	984	(A)₁₈=1.000	del(A)₇=0.000, del(A)₆=0.000, del(A)₅=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₄=0.000
Allele Frequency Aggregator	African	Sub	382	(A)₁₈=1.000	del(A)₇=0.000, del(A)₆=0.000, del(A)₅=0.000, 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 1	Sub	30	(A)₁₈=1.00	del(A)₇=0.00, del(A)₆=0.00, del(A)₅=0.00, 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	26	(A)₁₈=1.00	del(A)₇=0.00, del(A)₆=0.00, del(A)₅=0.00, 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 2	Sub	14	(A)₁₈=1.00	del(A)₇=0.00, del(A)₆=0.00, del(A)₅=0.00, 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	2	(A)₁₈=1.0	del(A)₇=0.0, del(A)₆=0.0, del(A)₅=0.0, 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	0	(A)₁₈=0	del(A)₇=0, del(A)₆=0, del(A)₅=0, delAA=0, delA=0, dupA=0, dupAA=0, dupAAA=0, dup(A)₄=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 3	NC_000003.12:g.49095581_49095587del
GRCh38.p14 chr 3	NC_000003.12:g.49095582_49095587del
GRCh38.p14 chr 3	NC_000003.12:g.49095583_49095587del
GRCh38.p14 chr 3	NC_000003.12:g.49095585_49095587del
GRCh38.p14 chr 3	NC_000003.12:g.49095586_49095587del
GRCh38.p14 chr 3	NC_000003.12:g.49095587del
GRCh38.p14 chr 3	NC_000003.12:g.49095587dup
GRCh38.p14 chr 3	NC_000003.12:g.49095586_49095587dup
GRCh38.p14 chr 3	NC_000003.12:g.49095585_49095587dup
GRCh38.p14 chr 3	NC_000003.12:g.49095584_49095587dup
GRCh37.p13 chr 3	NC_000003.11:g.49133014_49133020del
GRCh37.p13 chr 3	NC_000003.11:g.49133015_49133020del
GRCh37.p13 chr 3	NC_000003.11:g.49133016_49133020del
GRCh37.p13 chr 3	NC_000003.11:g.49133018_49133020del
GRCh37.p13 chr 3	NC_000003.11:g.49133019_49133020del
GRCh37.p13 chr 3	NC_000003.11:g.49133020del
GRCh37.p13 chr 3	NC_000003.11:g.49133020dup
GRCh37.p13 chr 3	NC_000003.11:g.49133019_49133020dup
GRCh37.p13 chr 3	NC_000003.11:g.49133018_49133020dup
GRCh37.p13 chr 3	NC_000003.11:g.49133017_49133020dup
QARS1 RefSeqGene	NG_042312.1:g.14554_14560del
QARS1 RefSeqGene	NG_042312.1:g.14555_14560del
QARS1 RefSeqGene	NG_042312.1:g.14556_14560del
QARS1 RefSeqGene	NG_042312.1:g.14558_14560del
QARS1 RefSeqGene	NG_042312.1:g.14559_14560del
QARS1 RefSeqGene	NG_042312.1:g.14560del
QARS1 RefSeqGene	NG_042312.1:g.14560dup
QARS1 RefSeqGene	NG_042312.1:g.14559_14560dup
QARS1 RefSeqGene	NG_042312.1:g.14558_14560dup
QARS1 RefSeqGene	NG_042312.1:g.14557_14560dup

Gene: QARS1, glutaminyl-tRNA synthetase 1 (minus strand) : 500B Downstream Variant

Molecule type	Change	Amino acid[Codon]	SO Term
QARS1 transcript variant 2	NM_001272073.2:c.	N/A	Downstream Transcript Variant
QARS1 transcript variant 1	NM_005051.3:c.	N/A	Downstream Transcript Variant
QARS1 transcript variant 3	NR_073590.2:n.	N/A	Downstream Transcript Variant
QARS1 transcript variant X1	XM_017006965.3:c.	N/A	Downstream Transcript Variant

Gene: QRICH1, glutamine rich 1 (minus strand) : 2KB Upstream Variant

Molecule type	Change	Amino acid[Codon]	SO Term
QRICH1 transcript variant 3	NM_001320580.2:c.	N/A	Upstream Transcript Variant
QRICH1 transcript variant 4	NM_001320581.2:c.	N/A	Upstream Transcript Variant
QRICH1 transcript variant 5	NM_001320582.2:c.	N/A	Upstream Transcript Variant
QRICH1 transcript variant 6	NM_001320583.2:c.	N/A	Upstream Transcript Variant
QRICH1 transcript variant 7	NM_001320584.1:c.	N/A	Upstream Transcript Variant
QRICH1 transcript variant 8	NM_001320585.1:c.	N/A	Upstream Transcript Variant
QRICH1 transcript variant 1	NM_017730.4:c.	N/A	Upstream Transcript Variant
QRICH1 transcript variant 2	NM_198880.3:c.	N/A	Upstream Transcript Variant
QRICH1 transcript variant X1	XM_011533863.1:c.	N/A	Upstream Transcript Variant
QRICH1 transcript variant X2	XM_047448399.1:c.	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)₇	del(A)₆	del(A)₅	delAAA	delAA	delA	dupA	dupAA	dupAAA	dup(A)₄
GRCh38.p14 chr 3	NC_000003.12:g.49095570_49095587=	NC_000003.12:g.49095581_49095587del	NC_000003.12:g.49095582_49095587del	NC_000003.12:g.49095583_49095587del	NC_000003.12:g.49095585_49095587del	NC_000003.12:g.49095586_49095587del	NC_000003.12:g.49095587del	NC_000003.12:g.49095587dup	NC_000003.12:g.49095586_49095587dup	NC_000003.12:g.49095585_49095587dup	NC_000003.12:g.49095584_49095587dup
GRCh37.p13 chr 3	NC_000003.11:g.49133003_49133020=	NC_000003.11:g.49133014_49133020del	NC_000003.11:g.49133015_49133020del	NC_000003.11:g.49133016_49133020del	NC_000003.11:g.49133018_49133020del	NC_000003.11:g.49133019_49133020del	NC_000003.11:g.49133020del	NC_000003.11:g.49133020dup	NC_000003.11:g.49133019_49133020dup	NC_000003.11:g.49133018_49133020dup	NC_000003.11:g.49133017_49133020dup
QARS1 RefSeqGene	NG_042312.1:g.14543_14560=	NG_042312.1:g.14554_14560del	NG_042312.1:g.14555_14560del	NG_042312.1:g.14556_14560del	NG_042312.1:g.14558_14560del	NG_042312.1:g.14559_14560del	NG_042312.1:g.14560del	NG_042312.1:g.14560dup	NG_042312.1:g.14559_14560dup	NG_042312.1:g.14558_14560dup	NG_042312.1:g.14557_14560dup

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#.

44 SubSNP, 19 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ABI	ss41950281	Oct 12, 2018 (152)
2	HGSV	ss81802688	Dec 03, 2013 (138)
3	HGSV	ss82284754	Dec 04, 2013 (138)
4	HUMANGENOME_JCVI	ss95316851	Dec 05, 2013 (138)
5	PJP	ss295099231	Oct 12, 2018 (152)
6	PJP	ss295099232	Oct 12, 2018 (152)
7	SSMP	ss663412118	Apr 01, 2015 (144)
8	1000GENOMES	ss1370316817	Aug 21, 2014 (142)
9	SWEGEN	ss2992268747	Nov 08, 2017 (151)
10	MCHAISSO	ss3064046261	Nov 08, 2017 (151)
11	MCHAISSO	ss3065879138	Nov 08, 2017 (151)
12	EVA_DECODE	ss3709176309	Jul 13, 2019 (153)
13	EVA_DECODE	ss3709176310	Jul 13, 2019 (153)
14	EVA_DECODE	ss3709176311	Jul 13, 2019 (153)
15	EVA_DECODE	ss3709176312	Jul 13, 2019 (153)
16	KHV_HUMAN_GENOMES	ss3803139222	Jul 13, 2019 (153)
17	EVA	ss3827797168	Apr 25, 2020 (154)
18	GNOMAD	ss4070566824	Apr 27, 2021 (155)
19	GNOMAD	ss4070566825	Apr 27, 2021 (155)
20	GNOMAD	ss4070566826	Apr 27, 2021 (155)
21	GNOMAD	ss4070566827	Apr 27, 2021 (155)
22	GNOMAD	ss4070566828	Apr 27, 2021 (155)
23	GNOMAD	ss4070566829	Apr 27, 2021 (155)
24	GNOMAD	ss4070566830	Apr 27, 2021 (155)
25	GNOMAD	ss4070566831	Apr 27, 2021 (155)
26	TOMMO_GENOMICS	ss5159024509	Apr 27, 2021 (155)
27	TOMMO_GENOMICS	ss5159024510	Apr 27, 2021 (155)
28	TOMMO_GENOMICS	ss5159024511	Apr 27, 2021 (155)
29	TOMMO_GENOMICS	ss5159024512	Apr 27, 2021 (155)
30	1000G_HIGH_COVERAGE	ss5253989381	Oct 12, 2022 (156)
31	1000G_HIGH_COVERAGE	ss5253989382	Oct 12, 2022 (156)
32	1000G_HIGH_COVERAGE	ss5253989383	Oct 12, 2022 (156)
33	1000G_HIGH_COVERAGE	ss5253989384	Oct 12, 2022 (156)
34	HUGCELL_USP	ss5453390573	Oct 12, 2022 (156)
35	HUGCELL_USP	ss5453390574	Oct 12, 2022 (156)
36	HUGCELL_USP	ss5453390575	Oct 12, 2022 (156)
37	TOMMO_GENOMICS	ss5690644351	Oct 12, 2022 (156)
38	TOMMO_GENOMICS	ss5690644352	Oct 12, 2022 (156)
39	TOMMO_GENOMICS	ss5690644354	Oct 12, 2022 (156)
40	TOMMO_GENOMICS	ss5690644355	Oct 12, 2022 (156)
41	EVA	ss5825717742	Oct 12, 2022 (156)
42	EVA	ss5825717743	Oct 12, 2022 (156)
43	EVA	ss5853602183	Oct 12, 2022 (156)
44	EVA	ss5868721237	Oct 12, 2022 (156)
45	1000Genomes	NC_000003.11 - 49133003	Oct 12, 2018 (152)
46	gnomAD - Genomes Submission ignored due to conflicting rows: Row 106944771 (NC_000003.12:49095569::A 75851/116286) Row 106944772 (NC_000003.12:49095569::AA 3216/116360) Row 106944773 (NC_000003.12:49095569::AAA 81/116436)...	-	Apr 27, 2021 (155)
47	gnomAD - Genomes Submission ignored due to conflicting rows: Row 106944771 (NC_000003.12:49095569::A 75851/116286) Row 106944772 (NC_000003.12:49095569::AA 3216/116360) Row 106944773 (NC_000003.12:49095569::AAA 81/116436)...	-	Apr 27, 2021 (155)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 106944771 (NC_000003.12:49095569::A 75851/116286) Row 106944772 (NC_000003.12:49095569::AA 3216/116360) Row 106944773 (NC_000003.12:49095569::AAA 81/116436)...	-	Apr 27, 2021 (155)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 106944771 (NC_000003.12:49095569::A 75851/116286) Row 106944772 (NC_000003.12:49095569::AA 3216/116360) Row 106944773 (NC_000003.12:49095569::AAA 81/116436)...	-	Apr 27, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 106944771 (NC_000003.12:49095569::A 75851/116286) Row 106944772 (NC_000003.12:49095569::AA 3216/116360) Row 106944773 (NC_000003.12:49095569::AAA 81/116436)...	-	Apr 27, 2021 (155)
51	gnomAD - Genomes Submission ignored due to conflicting rows: Row 106944771 (NC_000003.12:49095569::A 75851/116286) Row 106944772 (NC_000003.12:49095569::AA 3216/116360) Row 106944773 (NC_000003.12:49095569::AAA 81/116436)...	-	Apr 27, 2021 (155)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 106944771 (NC_000003.12:49095569::A 75851/116286) Row 106944772 (NC_000003.12:49095569::AA 3216/116360) Row 106944773 (NC_000003.12:49095569::AAA 81/116436)...	-	Apr 27, 2021 (155)
53	gnomAD - Genomes Submission ignored due to conflicting rows: Row 106944771 (NC_000003.12:49095569::A 75851/116286) Row 106944772 (NC_000003.12:49095569::AA 3216/116360) Row 106944773 (NC_000003.12:49095569::AAA 81/116436)...	-	Apr 27, 2021 (155)
54	gnomAD - Genomes Submission ignored due to conflicting rows: Row 106944771 (NC_000003.12:49095569::A 75851/116286) Row 106944772 (NC_000003.12:49095569::AA 3216/116360) Row 106944773 (NC_000003.12:49095569::AAA 81/116436)...	-	Apr 27, 2021 (155)
55	8.3KJPN Submission ignored due to conflicting rows: Row 16993816 (NC_000003.11:49133002::A 15420/16660) Row 16993817 (NC_000003.11:49133002::AA 133/16660) Row 16993818 (NC_000003.11:49133002:AAA: 2/16660)...	-	Apr 27, 2021 (155)
56	8.3KJPN Submission ignored due to conflicting rows: Row 16993816 (NC_000003.11:49133002::A 15420/16660) Row 16993817 (NC_000003.11:49133002::AA 133/16660) Row 16993818 (NC_000003.11:49133002:AAA: 2/16660)...	-	Apr 27, 2021 (155)
57	8.3KJPN Submission ignored due to conflicting rows: Row 16993816 (NC_000003.11:49133002::A 15420/16660) Row 16993817 (NC_000003.11:49133002::AA 133/16660) Row 16993818 (NC_000003.11:49133002:AAA: 2/16660)...	-	Apr 27, 2021 (155)
58	8.3KJPN Submission ignored due to conflicting rows: Row 16993816 (NC_000003.11:49133002::A 15420/16660) Row 16993817 (NC_000003.11:49133002::AA 133/16660) Row 16993818 (NC_000003.11:49133002:AAA: 2/16660)...	-	Apr 27, 2021 (155)
59	14KJPN Submission ignored due to conflicting rows: Row 24481455 (NC_000003.12:49095569::A 26180/28242) Row 24481456 (NC_000003.12:49095569::AA 204/28242) Row 24481458 (NC_000003.12:49095569:AAA: 3/28242)...	-	Oct 12, 2022 (156)
60	14KJPN Submission ignored due to conflicting rows: Row 24481455 (NC_000003.12:49095569::A 26180/28242) Row 24481456 (NC_000003.12:49095569::AA 204/28242) Row 24481458 (NC_000003.12:49095569:AAA: 3/28242)...	-	Oct 12, 2022 (156)
61	14KJPN Submission ignored due to conflicting rows: Row 24481455 (NC_000003.12:49095569::A 26180/28242) Row 24481456 (NC_000003.12:49095569::AA 204/28242) Row 24481458 (NC_000003.12:49095569:AAA: 3/28242)...	-	Oct 12, 2022 (156)
62	14KJPN Submission ignored due to conflicting rows: Row 24481455 (NC_000003.12:49095569::A 26180/28242) Row 24481456 (NC_000003.12:49095569::AA 204/28242) Row 24481458 (NC_000003.12:49095569:AAA: 3/28242)...	-	Oct 12, 2022 (156)
63	ALFA	NC_000003.12 - 49095570	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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
4993215700	NC_000003.12:49095569:AAAAAAAAAAAA… NC_000003.12:49095569:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	NC_000003.12:49095569:AAAAAAAAAAAA… NC_000003.12:49095569:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
ss4070566831	NC_000003.12:49095569:AAAAAA:	NC_000003.12:49095569:AAAAAAAAAAAA… NC_000003.12:49095569:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
4993215700	NC_000003.12:49095569:AAAAAAAAAAAA… NC_000003.12:49095569:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	NC_000003.12:49095569:AAAAAAAAAAAA… NC_000003.12:49095569:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss4070566830	NC_000003.12:49095569:AAAAA:	NC_000003.12:49095569:AAAAAAAAAAAA… NC_000003.12:49095569:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
4993215700	NC_000003.12:49095569:AAAAAAAAAAAA… NC_000003.12:49095569:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000003.12:49095569:AAAAAAAAAAAA… NC_000003.12:49095569:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss5159024511	NC_000003.11:49133002:AAA:	NC_000003.12:49095569:AAAAAAAAAAAA… NC_000003.12:49095569:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss4070566829, ss5690644354	NC_000003.12:49095569:AAA:	NC_000003.12:49095569:AAAAAAAAAAAA… NC_000003.12:49095569:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss3709176312, ss4070566828	NC_000003.12:49095569:AA:	NC_000003.12:49095569:AAAAAAAAAAAA… NC_000003.12:49095569:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
4993215700	NC_000003.12:49095569:AAAAAAAAAAAA… NC_000003.12:49095569:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000003.12:49095569:AAAAAAAAAAAA… NC_000003.12:49095569:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss2992268747, ss5159024512	NC_000003.11:49133002:A:	NC_000003.12:49095569:AAAAAAAAAAAA… NC_000003.12:49095569:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss5253989383, ss5453390575, ss5690644355	NC_000003.12:49095569:A:	NC_000003.12:49095569:AAAAAAAAAAAA… NC_000003.12:49095569:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
4993215700	NC_000003.12:49095569:AAAAAAAAAAAA… NC_000003.12:49095569:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000003.12:49095569:AAAAAAAAAAAA… NC_000003.12:49095569:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3709176311	NC_000003.12:49095570:A:	NC_000003.12:49095569:AAAAAAAAAAAA… NC_000003.12:49095569:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss295099231	NC_000003.10:49108007::A	NC_000003.12:49095569:AAAAAAAAAAAA… NC_000003.12:49095569:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss295099232	NC_000003.10:49108024::A	NC_000003.12:49095569:AAAAAAAAAAAA… NC_000003.12:49095569:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
15073661, ss663412118, ss1370316817, ss3827797168, ss5159024509, ss5825717742	NC_000003.11:49133002::A	NC_000003.12:49095569:AAAAAAAAAAAA… NC_000003.12:49095569:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss3064046261, ss3065879138, ss3803139222, ss4070566824, ss5253989381, ss5453390573, ss5690644351, ss5853602183, ss5868721237	NC_000003.12:49095569::A	NC_000003.12:49095569:AAAAAAAAAAAA… NC_000003.12:49095569:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
4993215700	NC_000003.12:49095569:AAAAAAAAAAAA… NC_000003.12:49095569:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000003.12:49095569:AAAAAAAAAAAA… NC_000003.12:49095569:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss3709176310	NC_000003.12:49095571::A	NC_000003.12:49095569:AAAAAAAAAAAA… NC_000003.12:49095569:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss41950281	NT_022517.18:49073002::A	NC_000003.12:49095569:AAAAAAAAAAAA… NC_000003.12:49095569:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss81802688, ss82284754, ss95316851	NT_022517.18:49073020::A	NC_000003.12:49095569:AAAAAAAAAAAA… NC_000003.12:49095569:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss5159024510, ss5825717743	NC_000003.11:49133002::AA	NC_000003.12:49095569:AAAAAAAAAAAA… NC_000003.12:49095569:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss4070566825, ss5253989382, ss5453390574, ss5690644352	NC_000003.12:49095569::AA	NC_000003.12:49095569:AAAAAAAAAAAA… NC_000003.12:49095569:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
4993215700	NC_000003.12:49095569:AAAAAAAAAAAA… NC_000003.12:49095569:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000003.12:49095569:AAAAAAAAAAAA… NC_000003.12:49095569:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3709176309	NC_000003.12:49095571::AA	NC_000003.12:49095569:AAAAAAAAAAAA… NC_000003.12:49095569:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss4070566826, ss5253989384	NC_000003.12:49095569::AAA	NC_000003.12:49095569:AAAAAAAAAAAA… NC_000003.12:49095569:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
4993215700	NC_000003.12:49095569:AAAAAAAAAAAA… NC_000003.12:49095569:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	NC_000003.12:49095569:AAAAAAAAAAAA… NC_000003.12:49095569:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss4070566827	NC_000003.12:49095569::AAAA	NC_000003.12:49095569:AAAAAAAAAAAA… NC_000003.12:49095569:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
4993215700	NC_000003.12:49095569:AAAAAAAAAAAA… NC_000003.12:49095569:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	NC_000003.12:49095569:AAAAAAAAAAAA… NC_000003.12:49095569:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(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 rs397690702

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

rs397690702