Name: rs1421146542
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.

rs1421146542

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr17:69303846-69303855 (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: delAT / dupAT / insATAC(AT)₅ACACAT…
delAT / dupAT / insATAC(AT)₅ACACATAC(AT)₆ / insATAC(AT)₆ACACATAC(AT)₇ / insATAC(AT)₇(ACAT)₂(ATATATATATAC)₂(ACAT)₂ATATATATAT / dupATAT / insATATAC(AT)₅(ACAT)₂ATATATATATAT / dup(AT)₃ / dup(AT)₄ / dup(AT)₅
Variation Type: Indel Insertion and Deletion
Frequency: delAT=0.00000 (0/11050, ALFA)
dupAT=0.00000 (0/11050, ALFA)
dupATAT=0.00000 (0/11050, ALFA) (+ 3 more)
dup(AT)₃=0.00000 (0/11050, ALFA)
dup(AT)₄=0.00000 (0/11050, ALFA)
dup(AT)₅=0.00000 (0/11050, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: ABCA5 : 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	11050	ATATATATAT=1.00000	ATATATAT=0.00000, ATATATATATAT=0.00000, ATATATATATATAT=0.00000, ATATATATATATATAT=0.00000, ATATATATATATATATAT=0.00000, ATATATATATATATATATAT=0.00000	1.0	N/A
European	Sub	7460	ATATATATAT=1.0000	ATATATAT=0.0000, ATATATATATAT=0.0000, ATATATATATATAT=0.0000, ATATATATATATATAT=0.0000, ATATATATATATATATAT=0.0000, ATATATATATATATATATAT=0.0000	1.0	N/A
African	Sub	2222	ATATATATAT=1.0000	ATATATAT=0.0000, ATATATATATAT=0.0000, ATATATATATATAT=0.0000, ATATATATATATATAT=0.0000, ATATATATATATATATAT=0.0000, ATATATATATATATATATAT=0.0000	1.0	N/A
African Others	Sub	74	ATATATATAT=1.00	ATATATAT=0.00, ATATATATATAT=0.00, ATATATATATATAT=0.00, ATATATATATATATAT=0.00, ATATATATATATATATAT=0.00, ATATATATATATATATATAT=0.00	1.0	N/A
African American	Sub	2148	ATATATATAT=1.0000	ATATATAT=0.0000, ATATATATATAT=0.0000, ATATATATATATAT=0.0000, ATATATATATATATAT=0.0000, ATATATATATATATATAT=0.0000, ATATATATATATATATATAT=0.0000	1.0	N/A
Asian	Sub	106	ATATATATAT=1.000	ATATATAT=0.000, ATATATATATAT=0.000, ATATATATATATAT=0.000, ATATATATATATATAT=0.000, ATATATATATATATATAT=0.000, ATATATATATATATATATAT=0.000	1.0	N/A
East Asian	Sub	82	ATATATATAT=1.00	ATATATAT=0.00, ATATATATATAT=0.00, ATATATATATATAT=0.00, ATATATATATATATAT=0.00, ATATATATATATATATAT=0.00, ATATATATATATATATATAT=0.00	1.0	N/A
Other Asian	Sub	24	ATATATATAT=1.00	ATATATAT=0.00, ATATATATATAT=0.00, ATATATATATATAT=0.00, ATATATATATATATAT=0.00, ATATATATATATATATAT=0.00, ATATATATATATATATATAT=0.00	1.0	N/A
Latin American 1	Sub	142	ATATATATAT=1.000	ATATATAT=0.000, ATATATATATAT=0.000, ATATATATATATAT=0.000, ATATATATATATATAT=0.000, ATATATATATATATATAT=0.000, ATATATATATATATATATAT=0.000	1.0	N/A
Latin American 2	Sub	592	ATATATATAT=1.000	ATATATAT=0.000, ATATATATATAT=0.000, ATATATATATATAT=0.000, ATATATATATATATAT=0.000, ATATATATATATATATAT=0.000, ATATATATATATATATATAT=0.000	1.0	N/A
South Asian	Sub	92	ATATATATAT=1.00	ATATATAT=0.00, ATATATATATAT=0.00, ATATATATATATAT=0.00, ATATATATATATATAT=0.00, ATATATATATATATATAT=0.00, ATATATATATATATATATAT=0.00	1.0	N/A
Other	Sub	436	ATATATATAT=1.000	ATATATAT=0.000, ATATATATATAT=0.000, ATATATATATATAT=0.000, ATATATATATATATAT=0.000, ATATATATATATATATAT=0.000, ATATATATATATATATATAT=0.000	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	11050	(AT)₅=1.00000	delAT=0.00000, dupAT=0.00000, dupATAT=0.00000, dup(AT)₃=0.00000, dup(AT)₄=0.00000, dup(AT)₅=0.00000
Allele Frequency Aggregator	European	Sub	7460	(AT)₅=1.0000	delAT=0.0000, dupAT=0.0000, dupATAT=0.0000, dup(AT)₃=0.0000, dup(AT)₄=0.0000, dup(AT)₅=0.0000
Allele Frequency Aggregator	African	Sub	2222	(AT)₅=1.0000	delAT=0.0000, dupAT=0.0000, dupATAT=0.0000, dup(AT)₃=0.0000, dup(AT)₄=0.0000, dup(AT)₅=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	592	(AT)₅=1.000	delAT=0.000, dupAT=0.000, dupATAT=0.000, dup(AT)₃=0.000, dup(AT)₄=0.000, dup(AT)₅=0.000
Allele Frequency Aggregator	Other	Sub	436	(AT)₅=1.000	delAT=0.000, dupAT=0.000, dupATAT=0.000, dup(AT)₃=0.000, dup(AT)₄=0.000, dup(AT)₅=0.000
Allele Frequency Aggregator	Latin American 1	Sub	142	(AT)₅=1.000	delAT=0.000, dupAT=0.000, dupATAT=0.000, dup(AT)₃=0.000, dup(AT)₄=0.000, dup(AT)₅=0.000
Allele Frequency Aggregator	Asian	Sub	106	(AT)₅=1.000	delAT=0.000, dupAT=0.000, dupATAT=0.000, dup(AT)₃=0.000, dup(AT)₄=0.000, dup(AT)₅=0.000
Allele Frequency Aggregator	South Asian	Sub	92	(AT)₅=1.00	delAT=0.00, dupAT=0.00, dupATAT=0.00, dup(AT)₃=0.00, dup(AT)₄=0.00, dup(AT)₅=0.00

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 17	NC_000017.11:g.69303846AT[4]
GRCh38.p14 chr 17	NC_000017.11:g.69303846AT[6]
GRCh38.p14 chr 17	NC_000017.11:g.69303846_69303855AT[6]ACATATATATATACACATACATATATATATAT[1]
GRCh38.p14 chr 17	NC_000017.11:g.69303846_69303855ATATATATATATAC[2]ACAT[2]AT[6]
GRCh38.p14 chr 17	NC_000017.11:g.69303846_69303855ATATATATATATACAT[2]ACATATATATATATACATATATATATACACATACATATATATATAT[1]
GRCh38.p14 chr 17	NC_000017.11:g.69303846AT[7]
GRCh38.p14 chr 17	NC_000017.11:g.69303846_69303855AT[7]ACATATATATATACATACATATATATATATAT[1]
GRCh38.p14 chr 17	NC_000017.11:g.69303846AT[8]
GRCh38.p14 chr 17	NC_000017.11:g.69303846AT[9]
GRCh38.p14 chr 17	NC_000017.11:g.69303846AT[10]
GRCh37.p13 chr 17	NC_000017.10:g.67299987AT[4]
GRCh37.p13 chr 17	NC_000017.10:g.67299987AT[6]
GRCh37.p13 chr 17	NC_000017.10:g.67299987_67299996AT[6]ACATATATATATACACATACATATATATATAT[1]
GRCh37.p13 chr 17	NC_000017.10:g.67299987_67299996ATATATATATATAC[2]ACAT[2]AT[6]
GRCh37.p13 chr 17	NC_000017.10:g.67299987_67299996ATATATATATATACAT[2]ACATATATATATATACATATATATATACACATACATATATATATAT[1]
GRCh37.p13 chr 17	NC_000017.10:g.67299987AT[7]
GRCh37.p13 chr 17	NC_000017.10:g.67299987_67299996AT[7]ACATATATATATACATACATATATATATATAT[1]
GRCh37.p13 chr 17	NC_000017.10:g.67299987AT[8]
GRCh37.p13 chr 17	NC_000017.10:g.67299987AT[9]
GRCh37.p13 chr 17	NC_000017.10:g.67299987AT[10]
ABCA5 RefSeqGene	NG_034199.1:g.28328AT[4]
ABCA5 RefSeqGene	NG_034199.1:g.28328AT[6]
ABCA5 RefSeqGene	NG_034199.1:g.28328_28337AT[6]GTATGTGTATATATATATGTATATATATATAT[1]
ABCA5 RefSeqGene	NG_034199.1:g.28328_28337AT[7]GTATGTGTATATATATATATGTATATATATATAT[1]
ABCA5 RefSeqGene	NG_034199.1:g.28328_28337AT[6]GTATGTGTATATATATATGTATATATATATATGTATGTATATATATATATATGTATATATATATAT[1]
ABCA5 RefSeqGene	NG_034199.1:g.28328AT[7]
ABCA5 RefSeqGene	NG_034199.1:g.28328_28337AT[7]GTAT[2]AT[4]GTATATATATATATAT[1]
ABCA5 RefSeqGene	NG_034199.1:g.28328AT[8]
ABCA5 RefSeqGene	NG_034199.1:g.28328AT[9]
ABCA5 RefSeqGene	NG_034199.1:g.28328AT[10]

Gene: ABCA5, ATP binding cassette subfamily A member 5 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ABCA5 transcript variant 1	NM_018672.5:c.930+814AT[4]	N/A	Intron Variant
ABCA5 transcript variant 2	NM_172232.4:c.930+814AT[4]	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	(AT)₅=	delAT	dupAT	insATAC(AT)₅ACACATAC(AT)₆	insATAC(AT)₆ACACATAC(AT)₇	insATAC(AT)₇(ACAT)₂(ATATATATATAC)₂(ACAT)₂ATATATATAT	dupATAT	insATATAC(AT)₅(ACAT)₂ATATATATATAT	dup(AT)₃	dup(AT)₄	dup(AT)₅
GRCh38.p14 chr 17	NC_000017.11:g.69303846_69303855=	NC_000017.11:g.69303846AT[4]	NC_000017.11:g.69303846AT[6]	NC_000017.11:g.69303846_69303855AT[6]ACATATATATATACACATACATATATATATAT[1]	NC_000017.11:g.69303846_69303855ATATATATATATAC[2]ACAT[2]AT[6]	NC_000017.11:g.69303846_69303855ATATATATATATACAT[2]ACATATATATATATACATATATATATACACATACATATATATATAT[1]	NC_000017.11:g.69303846AT[7]	NC_000017.11:g.69303846_69303855AT[7]ACATATATATATACATACATATATATATATAT[1]	NC_000017.11:g.69303846AT[8]	NC_000017.11:g.69303846AT[9]	NC_000017.11:g.69303846AT[10]
GRCh37.p13 chr 17	NC_000017.10:g.67299987_67299996=	NC_000017.10:g.67299987AT[4]	NC_000017.10:g.67299987AT[6]	NC_000017.10:g.67299987_67299996AT[6]ACATATATATATACACATACATATATATATAT[1]	NC_000017.10:g.67299987_67299996ATATATATATATAC[2]ACAT[2]AT[6]	NC_000017.10:g.67299987_67299996ATATATATATATACAT[2]ACATATATATATATACATATATATATACACATACATATATATATAT[1]	NC_000017.10:g.67299987AT[7]	NC_000017.10:g.67299987_67299996AT[7]ACATATATATATACATACATATATATATATAT[1]	NC_000017.10:g.67299987AT[8]	NC_000017.10:g.67299987AT[9]	NC_000017.10:g.67299987AT[10]
ABCA5 RefSeqGene	NG_034199.1:g.28328_28337=	NG_034199.1:g.28328AT[4]	NG_034199.1:g.28328AT[6]	NG_034199.1:g.28328_28337AT[6]GTATGTGTATATATATATGTATATATATATAT[1]	NG_034199.1:g.28328_28337AT[7]GTATGTGTATATATATATATGTATATATATATAT[1]	NG_034199.1:g.28328_28337AT[6]GTATGTGTATATATATATGTATATATATATATGTATGTATATATATATATATGTATATATATATAT[1]	NG_034199.1:g.28328AT[7]	NG_034199.1:g.28328_28337AT[7]GTAT[2]AT[4]GTATATATATATATAT[1]	NG_034199.1:g.28328AT[8]	NG_034199.1:g.28328AT[9]	NG_034199.1:g.28328AT[10]
ABCA5 transcript variant 1	NM_018672.3:c.930+823=	NM_018672.3:c.930+814AT[4]	NM_018672.3:c.930+814AT[6]	NM_018672.3:c.930+823_930+824insATATATATATATGTATGTGTATATATATATGTAT	NM_018672.3:c.930+823_930+824insATATATATATATATGTATGTGTATATATATATATGTAT	NM_018672.3:c.930+823_930+824insATATATATATATGTATGTGTATATATATATGTATATATATATATGTATGTATATATATATATATGTAT	NM_018672.3:c.930+814AT[7]	NM_018672.3:c.930+823_930+824insATATATATATATATGTATGTATATATATATGTATAT	NM_018672.3:c.930+814AT[8]	NM_018672.3:c.930+814AT[9]	NM_018672.3:c.930+814AT[10]
ABCA5 transcript variant 1	NM_018672.5:c.930+823=	NM_018672.5:c.930+814AT[4]	NM_018672.5:c.930+814AT[6]	NM_018672.5:c.930+823_930+824insATATATATATATGTATGTGTATATATATATGTAT	NM_018672.5:c.930+823_930+824insATATATATATATATGTATGTGTATATATATATATGTAT	NM_018672.5:c.930+823_930+824insATATATATATATGTATGTGTATATATATATGTATATATATATATGTATGTATATATATATATATGTAT	NM_018672.5:c.930+814AT[7]	NM_018672.5:c.930+823_930+824insATATATATATATATGTATGTATATATATATGTATAT	NM_018672.5:c.930+814AT[8]	NM_018672.5:c.930+814AT[9]	NM_018672.5:c.930+814AT[10]
ABCA5 transcript variant 2	NM_172232.2:c.930+823=	NM_172232.2:c.930+814AT[4]	NM_172232.2:c.930+814AT[6]	NM_172232.2:c.930+823_930+824insATATATATATATGTATGTGTATATATATATGTAT	NM_172232.2:c.930+823_930+824insATATATATATATATGTATGTGTATATATATATATGTAT	NM_172232.2:c.930+823_930+824insATATATATATATGTATGTGTATATATATATGTATATATATATATGTATGTATATATATATATATGTAT	NM_172232.2:c.930+814AT[7]	NM_172232.2:c.930+823_930+824insATATATATATATATGTATGTATATATATATGTATAT	NM_172232.2:c.930+814AT[8]	NM_172232.2:c.930+814AT[9]	NM_172232.2:c.930+814AT[10]
ABCA5 transcript variant 2	NM_172232.4:c.930+823=	NM_172232.4:c.930+814AT[4]	NM_172232.4:c.930+814AT[6]	NM_172232.4:c.930+823_930+824insATATATATATATGTATGTGTATATATATATGTAT	NM_172232.4:c.930+823_930+824insATATATATATATATGTATGTGTATATATATATATGTAT	NM_172232.4:c.930+823_930+824insATATATATATATGTATGTGTATATATATATGTATATATATATATGTATGTATATATATATATATGTAT	NM_172232.4:c.930+814AT[7]	NM_172232.4:c.930+823_930+824insATATATATATATATGTATGTATATATATATGTATAT	NM_172232.4:c.930+814AT[8]	NM_172232.4:c.930+814AT[9]	NM_172232.4:c.930+814AT[10]
ABCA5 transcript variant X1	XM_005257177.1:c.930+823=	XM_005257177.1:c.930+814AT[4]	XM_005257177.1:c.930+814AT[6]	XM_005257177.1:c.930+823_930+824insATATATATATATGTATGTGTATATATATATGTAT	XM_005257177.1:c.930+823_930+824insATATATATATATATGTATGTGTATATATATATATGTAT	XM_005257177.1:c.930+823_930+824insATATATATATATGTATGTGTATATATATATGTATATATATATATGTATGTATATATATATATATGTAT	XM_005257177.1:c.930+814AT[7]	XM_005257177.1:c.930+823_930+824insATATATATATATATGTATGTATATATATATGTATAT	XM_005257177.1:c.930+814AT[8]	XM_005257177.1:c.930+814AT[9]	XM_005257177.1:c.930+814AT[10]
ABCA5 transcript variant X2	XM_005257178.1:c.930+823=	XM_005257178.1:c.930+814AT[4]	XM_005257178.1:c.930+814AT[6]	XM_005257178.1:c.930+823_930+824insATATATATATATGTATGTGTATATATATATGTAT	XM_005257178.1:c.930+823_930+824insATATATATATATATGTATGTGTATATATATATATGTAT	XM_005257178.1:c.930+823_930+824insATATATATATATGTATGTGTATATATATATGTATATATATATATGTATGTATATATATATATATGTAT	XM_005257178.1:c.930+814AT[7]	XM_005257178.1:c.930+823_930+824insATATATATATATATGTATGTATATATATATGTATAT	XM_005257178.1:c.930+814AT[8]	XM_005257178.1:c.930+814AT[9]	XM_005257178.1:c.930+814AT[10]

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#.

20 SubSNP, 12 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	EVA_DECODE	ss3700825703	Jul 13, 2019 (153)
2	EVA_DECODE	ss3700825704	Jul 13, 2019 (153)
3	EVA_DECODE	ss3700825705	Jul 13, 2019 (153)
4	EVA_DECODE	ss3700825712	Jul 13, 2019 (153)
5	PACBIO	ss3788255169	Jul 13, 2019 (153)
6	PACBIO	ss3793202399	Jul 13, 2019 (153)
7	PACBIO	ss3798088352	Jul 13, 2019 (153)
8	GNOMAD	ss4314914363	Apr 27, 2021 (155)
9	GNOMAD	ss4314914365	Apr 27, 2021 (155)
10	GNOMAD	ss4314914367	Apr 27, 2021 (155)
11	GNOMAD	ss4314914368	Apr 27, 2021 (155)
12	GNOMAD	ss4314914370	Apr 27, 2021 (155)
13	TOMMO_GENOMICS	ss5223273592	Apr 27, 2021 (155)
14	TOMMO_GENOMICS	ss5223273594	Apr 27, 2021 (155)
15	TOMMO_GENOMICS	ss5223273595	Apr 27, 2021 (155)
16	HUGCELL_USP	ss5496755689	Oct 16, 2022 (156)
17	HUGCELL_USP	ss5496755690	Oct 16, 2022 (156)
18	HUGCELL_USP	ss5496755691	Oct 16, 2022 (156)
19	TOMMO_GENOMICS	ss5779756938	Oct 16, 2022 (156)
20	TOMMO_GENOMICS	ss5779756941	Oct 16, 2022 (156)
21	gnomAD - Genomes Submission ignored due to conflicting rows: Row 512619201 (NC_000017.11:69303845::AT 1052/5756) Row 512619203 (NC_000017.11:69303845::ATATAT 10/5870) Row 512619205 (NC_000017.11:69303845::ATATATATATATACATATATATATACACATACAT 269/5812)...	-	Apr 27, 2021 (155)
22	gnomAD - Genomes Submission ignored due to conflicting rows: Row 512619201 (NC_000017.11:69303845::AT 1052/5756) Row 512619203 (NC_000017.11:69303845::ATATAT 10/5870) Row 512619205 (NC_000017.11:69303845::ATATATATATATACATATATATATACACATACAT 269/5812)...	-	Apr 27, 2021 (155)
23	gnomAD - Genomes Submission ignored due to conflicting rows: Row 512619201 (NC_000017.11:69303845::AT 1052/5756) Row 512619203 (NC_000017.11:69303845::ATATAT 10/5870) Row 512619205 (NC_000017.11:69303845::ATATATATATATACATATATATATACACATACAT 269/5812)...	-	Apr 27, 2021 (155)
24	gnomAD - Genomes Submission ignored due to conflicting rows: Row 512619201 (NC_000017.11:69303845::AT 1052/5756) Row 512619203 (NC_000017.11:69303845::ATATAT 10/5870) Row 512619205 (NC_000017.11:69303845::ATATATATATATACATATATATATACACATACAT 269/5812)...	-	Apr 27, 2021 (155)
25	gnomAD - Genomes Submission ignored due to conflicting rows: Row 512619201 (NC_000017.11:69303845::AT 1052/5756) Row 512619203 (NC_000017.11:69303845::ATATAT 10/5870) Row 512619205 (NC_000017.11:69303845::ATATATATATATACATATATATATACACATACAT 269/5812)...	-	Apr 27, 2021 (155)
26	gnomAD - Genomes Submission ignored due to conflicting rows: Row 512619201 (NC_000017.11:69303845::AT 1052/5756) Row 512619203 (NC_000017.11:69303845::ATATAT 10/5870) Row 512619205 (NC_000017.11:69303845::ATATATATATATACATATATATATACACATACAT 269/5812)...	-	Apr 27, 2021 (155)
27	8.3KJPN Submission ignored due to conflicting rows: Row 81242899 (NC_000017.10:67299986::ATAT 1235/4860) Row 81242901 (NC_000017.10:67299986::ATATATATATATATACATATATATATACATACATAT 1/4860) Row 81242902 (NC_000017.10:67299986::AT 5/4860)	-	Apr 27, 2021 (155)
28	8.3KJPN Submission ignored due to conflicting rows: Row 81242899 (NC_000017.10:67299986::ATAT 1235/4860) Row 81242901 (NC_000017.10:67299986::ATATATATATATATACATATATATATACATACATAT 1/4860) Row 81242902 (NC_000017.10:67299986::AT 5/4860)	-	Apr 27, 2021 (155)
29	8.3KJPN Submission ignored due to conflicting rows: Row 81242899 (NC_000017.10:67299986::ATAT 1235/4860) Row 81242901 (NC_000017.10:67299986::ATATATATATATATACATATATATATACATACATAT 1/4860) Row 81242902 (NC_000017.10:67299986::AT 5/4860)	-	Apr 27, 2021 (155)
30	14KJPN Submission ignored due to conflicting rows: Row 113594042 (NC_000017.11:69303845::ATAT 1237/10926) Row 113594045 (NC_000017.11:69303845::AT 4/10926)	-	Oct 16, 2022 (156)
31	14KJPN Submission ignored due to conflicting rows: Row 113594042 (NC_000017.11:69303845::ATAT 1237/10926) Row 113594045 (NC_000017.11:69303845::AT 4/10926)	-	Oct 16, 2022 (156)
32	ALFA	NC_000017.11 - 69303846	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
ss4314914370	NC_000017.11:69303845:AT:	NC_000017.11:69303845:ATATATATAT:A… NC_000017.11:69303845:ATATATATAT:ATATATAT	(self)
7362687062	NC_000017.11:69303845:ATATATATAT:A… NC_000017.11:69303845:ATATATATAT:ATATATAT	NC_000017.11:69303845:ATATATATAT:A… NC_000017.11:69303845:ATATATATAT:ATATATAT	(self)
ss5223273595	NC_000017.10:67299986::AT	NC_000017.11:69303845:ATATATATAT:A… NC_000017.11:69303845:ATATATATAT:ATATATATATAT	(self)
ss4314914363, ss5496755689, ss5779756941	NC_000017.11:69303845::AT	NC_000017.11:69303845:ATATATATAT:A… NC_000017.11:69303845:ATATATATAT:ATATATATATAT	(self)
7362687062	NC_000017.11:69303845:ATATATATAT:A… NC_000017.11:69303845:ATATATATAT:ATATATATATAT	NC_000017.11:69303845:ATATATATAT:A… NC_000017.11:69303845:ATATATATAT:ATATATATATAT	(self)
ss3700825705, ss3700825712	NC_000017.11:69303855::AT	NC_000017.11:69303845:ATATATATAT:A… NC_000017.11:69303845:ATATATATAT:ATATATATATAT	(self)
ss4314914367, ss5496755691	NC_000017.11:69303845::ATATATATATA… NC_000017.11:69303845::ATATATATATATACATATATATATACACATACAT	NC_000017.11:69303845:ATATATATAT:A… NC_000017.11:69303845:ATATATATAT:ATATATATATATACATATATATATACACATACATATATATATAT	(self)
ss4314914368	NC_000017.11:69303845::ATATATATATA… NC_000017.11:69303845::ATATATATATATACATATATATATATACACATACATAT	NC_000017.11:69303845:ATATATATAT:A… NC_000017.11:69303845:ATATATATAT:ATATATATATATACATATATATATATACACATACATATATATATATAT	(self)
	NC_000017.11:69303845::ATATATATATA… NC_000017.11:69303845::ATATATATATATACATATATATATATATACATACATATATATATATACATATATATATACACATACAT	NC_000017.11:69303845:ATATATATAT:A… NC_000017.11:69303845:ATATATATAT:ATATATATATATACATATATATATATATACATACATATATATATATACATATATATATACACATACATATATATATAT	(self)
ss3788255169, ss3793202399, ss3798088352, ss5223273592	NC_000017.10:67299986::ATAT	NC_000017.11:69303845:ATATATATAT:A… NC_000017.11:69303845:ATATATATAT:ATATATATATATAT	(self)
ss5496755690, ss5779756938	NC_000017.11:69303845::ATAT	NC_000017.11:69303845:ATATATATAT:A… NC_000017.11:69303845:ATATATATAT:ATATATATATATAT	(self)
7362687062	NC_000017.11:69303845:ATATATATAT:A… NC_000017.11:69303845:ATATATATAT:ATATATATATATAT	NC_000017.11:69303845:ATATATATAT:A… NC_000017.11:69303845:ATATATATAT:ATATATATATATAT	(self)
ss3700825704	NC_000017.11:69303855::ATAT	NC_000017.11:69303845:ATATATATAT:A… NC_000017.11:69303845:ATATATATAT:ATATATATATATAT	(self)
ss5223273594	NC_000017.10:67299986::ATATATATATA… NC_000017.10:67299986::ATATATATATATATACATATATATATACATACATAT	NC_000017.11:69303845:ATATATATAT:A… NC_000017.11:69303845:ATATATATAT:ATATATATATATATACATATATATATACATACATATATATATATAT	(self)
ss4314914365	NC_000017.11:69303845::ATATAT	NC_000017.11:69303845:ATATATATAT:A… NC_000017.11:69303845:ATATATATAT:ATATATATATATATAT	(self)
7362687062	NC_000017.11:69303845:ATATATATAT:A… NC_000017.11:69303845:ATATATATAT:ATATATATATATATAT	NC_000017.11:69303845:ATATATATAT:A… NC_000017.11:69303845:ATATATATAT:ATATATATATATATAT	(self)
ss3700825703	NC_000017.11:69303855::ATATAT	NC_000017.11:69303845:ATATATATAT:A… NC_000017.11:69303845:ATATATATAT:ATATATATATATATAT	(self)
7362687062	NC_000017.11:69303845:ATATATATAT:A… NC_000017.11:69303845:ATATATATAT:ATATATATATATATATAT	NC_000017.11:69303845:ATATATATAT:A… NC_000017.11:69303845:ATATATATAT:ATATATATATATATATAT	(self)
7362687062	NC_000017.11:69303845:ATATATATAT:A… NC_000017.11:69303845:ATATATATAT:ATATATATATATATATATAT	NC_000017.11:69303845:ATATATATAT:A… NC_000017.11:69303845:ATATATATAT:ATATATATATATATATATAT	(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 rs1421146542

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

rs1421146542