Name: rs548523406
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.

rs548523406

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr7:66841611-66841626 (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)₄ / delAAA / delAA / delA / …
del(A)₄ / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)₄
Variation Type: Indel Insertion and Deletion
Frequency: dupA=0.00773 (118/15274, ALFA)
dupA=0.2 (2/8, KOREAN)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: GTF2IRD1P1 : 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	15274	AAAAAAAAAAAAAAAA=0.98946	AAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAA=0.00773, AAAAAAAAAAAAAAAAAA=0.00282, AAAAAAAAAAAAAAAAAAA=0.00000	0.985122	0.000658	0.01422	25
European	Sub	11488	AAAAAAAAAAAAAAAA=0.98607	AAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAA=0.01027, AAAAAAAAAAAAAAAAAA=0.00366, AAAAAAAAAAAAAAAAAAA=0.00000	0.980186	0.000877	0.018937	18
African	Sub	2516	AAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000	1.0	0.0	0.0	N/A
African Others	Sub	100	AAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African American	Sub	2416	AAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000	1.0	0.0	0.0	N/A
Asian	Sub	78	AAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	60	AAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	18	AAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	136	AAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
Latin American 2	Sub	546	AAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	90	AAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other	Sub	420	AAAAAAAAAAAAAAAA=0.998	AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.002, AAAAAAAAAAAAAAAAAAA=0.000	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").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	15274	(A)₁₆=0.98946	delAA=0.00000, delA=0.00000, dupA=0.00773, dupAA=0.00282, dupAAA=0.00000
Allele Frequency Aggregator	European	Sub	11488	(A)₁₆=0.98607	delAA=0.00000, delA=0.00000, dupA=0.01027, dupAA=0.00366, dupAAA=0.00000
Allele Frequency Aggregator	African	Sub	2516	(A)₁₆=1.0000	delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	546	(A)₁₆=1.000	delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000
Allele Frequency Aggregator	Other	Sub	420	(A)₁₆=0.998	delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.002, dupAAA=0.000
Allele Frequency Aggregator	Latin American 1	Sub	136	(A)₁₆=1.000	delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000
Allele Frequency Aggregator	South Asian	Sub	90	(A)₁₆=1.00	delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator	Asian	Sub	78	(A)₁₆=1.00	delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
KOREAN population from KRGDB	KOREAN	Study-wide	8	- No frequency provided	dupA=0.2

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 7	NC_000007.14:g.66841623_66841626del
GRCh38.p14 chr 7	NC_000007.14:g.66841624_66841626del
GRCh38.p14 chr 7	NC_000007.14:g.66841625_66841626del
GRCh38.p14 chr 7	NC_000007.14:g.66841626del
GRCh38.p14 chr 7	NC_000007.14:g.66841626dup
GRCh38.p14 chr 7	NC_000007.14:g.66841625_66841626dup
GRCh38.p14 chr 7	NC_000007.14:g.66841624_66841626dup
GRCh38.p14 chr 7	NC_000007.14:g.66841623_66841626dup
GRCh37.p13 chr 7	NC_000007.13:g.66306610_66306613del
GRCh37.p13 chr 7	NC_000007.13:g.66306611_66306613del
GRCh37.p13 chr 7	NC_000007.13:g.66306612_66306613del
GRCh37.p13 chr 7	NC_000007.13:g.66306613del
GRCh37.p13 chr 7	NC_000007.13:g.66306613dup
GRCh37.p13 chr 7	NC_000007.13:g.66306612_66306613dup
GRCh37.p13 chr 7	NC_000007.13:g.66306611_66306613dup
GRCh37.p13 chr 7	NC_000007.13:g.66306610_66306613dup

Gene: GTF2IRD1P1, GTF2I repeat domain containing 1 pseudogene 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
GTF2IRD1P1 transcript	NR_003934.2:n.	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)₁₆=	del(A)₄	delAAA	delAA	delA	dupA	dupAA	dupAAA	dup(A)₄
GRCh38.p14 chr 7	NC_000007.14:g.66841611_66841626=	NC_000007.14:g.66841623_66841626del	NC_000007.14:g.66841624_66841626del	NC_000007.14:g.66841625_66841626del	NC_000007.14:g.66841626del	NC_000007.14:g.66841626dup	NC_000007.14:g.66841625_66841626dup	NC_000007.14:g.66841624_66841626dup	NC_000007.14:g.66841623_66841626dup
GRCh37.p13 chr 7	NC_000007.13:g.66306598_66306613=	NC_000007.13:g.66306610_66306613del	NC_000007.13:g.66306611_66306613del	NC_000007.13:g.66306612_66306613del	NC_000007.13:g.66306613del	NC_000007.13:g.66306613dup	NC_000007.13:g.66306612_66306613dup	NC_000007.13:g.66306611_66306613dup	NC_000007.13:g.66306610_66306613dup

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#.

29 SubSNP, 18 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SSIP	ss947197136	Aug 21, 2014 (142)
2	SWEGEN	ss3001329084	Nov 08, 2017 (151)
3	SWEGEN	ss3001329085	Nov 08, 2017 (151)
4	MCHAISSO	ss3066147341	Nov 08, 2017 (151)
5	ACPOP	ss3734704439	Jul 13, 2019 (153)
6	ACPOP	ss3734704440	Jul 13, 2019 (153)
7	PACBIO	ss3785844638	Jul 13, 2019 (153)
8	EVA	ss3830613256	Apr 26, 2020 (154)
9	KRGDB	ss3914705325	Apr 26, 2020 (154)
10	GNOMAD	ss4165066687	Apr 26, 2021 (155)
11	GNOMAD	ss4165066688	Apr 26, 2021 (155)
12	GNOMAD	ss4165066689	Apr 26, 2021 (155)
13	GNOMAD	ss4165066690	Apr 26, 2021 (155)
14	GNOMAD	ss4165066691	Apr 26, 2021 (155)
15	GNOMAD	ss4165066692	Apr 26, 2021 (155)
16	GNOMAD	ss4165066693	Apr 26, 2021 (155)
17	TOMMO_GENOMICS	ss5183586528	Apr 26, 2021 (155)
18	TOMMO_GENOMICS	ss5183586529	Apr 26, 2021 (155)
19	TOMMO_GENOMICS	ss5183586530	Apr 26, 2021 (155)
20	1000G_HIGH_COVERAGE	ss5273224604	Oct 14, 2022 (156)
21	1000G_HIGH_COVERAGE	ss5273224605	Oct 14, 2022 (156)
22	1000G_HIGH_COVERAGE	ss5273224606	Oct 14, 2022 (156)
23	HUGCELL_USP	ss5470298118	Oct 14, 2022 (156)
24	HUGCELL_USP	ss5470298119	Oct 14, 2022 (156)
25	HUGCELL_USP	ss5470298120	Oct 14, 2022 (156)
26	TOMMO_GENOMICS	ss5723969605	Oct 14, 2022 (156)
27	TOMMO_GENOMICS	ss5723969606	Oct 14, 2022 (156)
28	TOMMO_GENOMICS	ss5723969607	Oct 14, 2022 (156)
29	YY_MCH	ss5808723991	Oct 14, 2022 (156)
30	gnomAD - Genomes Submission ignored due to conflicting rows: Row 263944823 (NC_000007.14:66841610::A 4357/128884) Row 263944824 (NC_000007.14:66841610::AA 1689/128932) Row 263944825 (NC_000007.14:66841610::AAA 11/128972)...	-	Apr 26, 2021 (155)
31	gnomAD - Genomes Submission ignored due to conflicting rows: Row 263944823 (NC_000007.14:66841610::A 4357/128884) Row 263944824 (NC_000007.14:66841610::AA 1689/128932) Row 263944825 (NC_000007.14:66841610::AAA 11/128972)...	-	Apr 26, 2021 (155)
32	gnomAD - Genomes Submission ignored due to conflicting rows: Row 263944823 (NC_000007.14:66841610::A 4357/128884) Row 263944824 (NC_000007.14:66841610::AA 1689/128932) Row 263944825 (NC_000007.14:66841610::AAA 11/128972)...	-	Apr 26, 2021 (155)
33	gnomAD - Genomes Submission ignored due to conflicting rows: Row 263944823 (NC_000007.14:66841610::A 4357/128884) Row 263944824 (NC_000007.14:66841610::AA 1689/128932) Row 263944825 (NC_000007.14:66841610::AAA 11/128972)...	-	Apr 26, 2021 (155)
34	gnomAD - Genomes Submission ignored due to conflicting rows: Row 263944823 (NC_000007.14:66841610::A 4357/128884) Row 263944824 (NC_000007.14:66841610::AA 1689/128932) Row 263944825 (NC_000007.14:66841610::AAA 11/128972)...	-	Apr 26, 2021 (155)
35	gnomAD - Genomes Submission ignored due to conflicting rows: Row 263944823 (NC_000007.14:66841610::A 4357/128884) Row 263944824 (NC_000007.14:66841610::AA 1689/128932) Row 263944825 (NC_000007.14:66841610::AAA 11/128972)...	-	Apr 26, 2021 (155)
36	gnomAD - Genomes Submission ignored due to conflicting rows: Row 263944823 (NC_000007.14:66841610::A 4357/128884) Row 263944824 (NC_000007.14:66841610::AA 1689/128932) Row 263944825 (NC_000007.14:66841610::AAA 11/128972)...	-	Apr 26, 2021 (155)
37	gnomAD - Genomes Submission ignored due to conflicting rows: Row 263944823 (NC_000007.14:66841610::A 4357/128884) Row 263944824 (NC_000007.14:66841610::AA 1689/128932) Row 263944825 (NC_000007.14:66841610::AAA 11/128972)...	-	Apr 26, 2021 (155)
38	KOREAN population from KRGDB	NC_000007.13 - 66306598	Apr 26, 2020 (154)
39	Northern Sweden Submission ignored due to conflicting rows: Row 7989304 (NC_000007.13:66306597::A 25/598) Row 7989305 (NC_000007.13:66306597::AA 11/598)	-	Jul 13, 2019 (153)
40	Northern Sweden Submission ignored due to conflicting rows: Row 7989304 (NC_000007.13:66306597::A 25/598) Row 7989305 (NC_000007.13:66306597::AA 11/598)	-	Jul 13, 2019 (153)
41	8.3KJPN Submission ignored due to conflicting rows: Row 41555835 (NC_000007.13:66306597::A 3713/16754) Row 41555836 (NC_000007.13:66306597:A: 28/16754) Row 41555837 (NC_000007.13:66306597::AA 2/16754)	-	Apr 26, 2021 (155)
42	8.3KJPN Submission ignored due to conflicting rows: Row 41555835 (NC_000007.13:66306597::A 3713/16754) Row 41555836 (NC_000007.13:66306597:A: 28/16754) Row 41555837 (NC_000007.13:66306597::AA 2/16754)	-	Apr 26, 2021 (155)
43	8.3KJPN Submission ignored due to conflicting rows: Row 41555835 (NC_000007.13:66306597::A 3713/16754) Row 41555836 (NC_000007.13:66306597:A: 28/16754) Row 41555837 (NC_000007.13:66306597::AA 2/16754)	-	Apr 26, 2021 (155)
44	14KJPN Submission ignored due to conflicting rows: Row 57806709 (NC_000007.14:66841610::A 6317/28258) Row 57806710 (NC_000007.14:66841610:A: 36/28258) Row 57806711 (NC_000007.14:66841610::AA 3/28258)	-	Oct 14, 2022 (156)
45	14KJPN Submission ignored due to conflicting rows: Row 57806709 (NC_000007.14:66841610::A 6317/28258) Row 57806710 (NC_000007.14:66841610:A: 36/28258) Row 57806711 (NC_000007.14:66841610::AA 3/28258)	-	Oct 14, 2022 (156)
46	14KJPN Submission ignored due to conflicting rows: Row 57806709 (NC_000007.14:66841610::A 6317/28258) Row 57806710 (NC_000007.14:66841610:A: 36/28258) Row 57806711 (NC_000007.14:66841610::AA 3/28258)	-	Oct 14, 2022 (156)
47	ALFA	NC_000007.14 - 66841611	Apr 26, 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
ss4165066693	NC_000007.14:66841610:AAAA:	NC_000007.14:66841610:AAAAAAAAAAAA… NC_000007.14:66841610:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss4165066692	NC_000007.14:66841610:AAA:	NC_000007.14:66841610:AAAAAAAAAAAA… NC_000007.14:66841610:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss4165066691	NC_000007.14:66841610:AA:	NC_000007.14:66841610:AAAAAAAAAAAA… NC_000007.14:66841610:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
13013357174	NC_000007.14:66841610:AAAAAAAAAAAA… NC_000007.14:66841610:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000007.14:66841610:AAAAAAAAAAAA… NC_000007.14:66841610:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss3785844638, ss3830613256, ss5183586529	NC_000007.13:66306597:A:	NC_000007.14:66841610:AAAAAAAAAAAA… NC_000007.14:66841610:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss3066147341, ss5273224605, ss5470298119, ss5723969606	NC_000007.14:66841610:A:	NC_000007.14:66841610:AAAAAAAAAAAA… NC_000007.14:66841610:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
13013357174	NC_000007.14:66841610:AAAAAAAAAAAA… NC_000007.14:66841610:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000007.14:66841610:AAAAAAAAAAAA… NC_000007.14:66841610:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
21882719, ss3001329084, ss3734704439, ss3914705325, ss5183586528	NC_000007.13:66306597::A	NC_000007.14:66841610:AAAAAAAAAAAA… NC_000007.14:66841610:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss947197136	NC_000007.13:66306598::A	NC_000007.14:66841610:AAAAAAAAAAAA… NC_000007.14:66841610:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4165066687, ss5273224604, ss5470298118, ss5723969605, ss5808723991	NC_000007.14:66841610::A	NC_000007.14:66841610:AAAAAAAAAAAA… NC_000007.14:66841610:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
13013357174	NC_000007.14:66841610:AAAAAAAAAAAA… NC_000007.14:66841610:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000007.14:66841610:AAAAAAAAAAAA… NC_000007.14:66841610:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3001329085, ss3734704440, ss5183586530	NC_000007.13:66306597::AA	NC_000007.14:66841610:AAAAAAAAAAAA… NC_000007.14:66841610:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss4165066688, ss5273224606, ss5470298120, ss5723969607	NC_000007.14:66841610::AA	NC_000007.14:66841610:AAAAAAAAAAAA… NC_000007.14:66841610:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
13013357174	NC_000007.14:66841610:AAAAAAAAAAAA… NC_000007.14:66841610:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000007.14:66841610:AAAAAAAAAAAA… NC_000007.14:66841610:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss4165066689	NC_000007.14:66841610::AAA	NC_000007.14:66841610:AAAAAAAAAAAA… NC_000007.14:66841610:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
13013357174	NC_000007.14:66841610:AAAAAAAAAAAA… NC_000007.14:66841610:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000007.14:66841610:AAAAAAAAAAAA… NC_000007.14:66841610:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss4165066690	NC_000007.14:66841610::AAAA	NC_000007.14:66841610:AAAAAAAAAAAA… NC_000007.14:66841610:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss2463688904	NC_000007.13:66306597::AAA	NC_000007.14:66841610:AAAAAAAAAAAA… NC_000007.14:66841610:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

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

No publications for rs548523406

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.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs548523406