Name: rs545028521
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.

rs545028521

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr11:2983593-2983604 (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: delAA / delA / dupA / dupAA / dupA…
delAA / delA / dupA / dupAA / dupAAA / dup(A)₄
Variation Type: Indel Insertion and Deletion
Frequency: dupA=0.1916 (1588/8289, ALFA)
dupA=0.3321 (1663/5008, 1000G)
dupA=0.3664 (1412/3854, ALSPAC) (+ 2 more)
dupA=0.3735 (1385/3708, TWINSUK)
dupA=0.38 (15/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: NAP1L4 : 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	8289	AAAAAAAAAAAA=0.8078	AAAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.1916, AAAAAAAAAAAAAA=0.0006, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000	0.703435	0.087083	0.209482	32
European	Sub	7309	AAAAAAAAAAAA=0.7825	AAAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.2169, AAAAAAAAAAAAAA=0.0007, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000	0.66438	0.098793	0.236828	32
African	Sub	386	AAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
African Others	Sub	6	AAAAAAAAAAAA=1.0	AAAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
African American	Sub	380	AAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
Asian	Sub	60	AAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	46	AAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	14	AAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	46	AAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	292	AAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	20	AAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other	Sub	176	AAAAAAAAAAAA=0.983	AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.017, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000	0.965909	0.0	0.034091	0

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	8289	(A)₁₂=0.8078	delAA=0.0000, delA=0.0000, dupA=0.1916, dupAA=0.0006, dupAAA=0.0000, dup(A)₄=0.0000
Allele Frequency Aggregator	European	Sub	7309	(A)₁₂=0.7825	delAA=0.0000, delA=0.0000, dupA=0.2169, dupAA=0.0007, dupAAA=0.0000, dup(A)₄=0.0000
Allele Frequency Aggregator	African	Sub	386	(A)₁₂=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	292	(A)₁₂=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	Other	Sub	176	(A)₁₂=0.983	delAA=0.000, delA=0.000, dupA=0.017, dupAA=0.000, dupAAA=0.000, dup(A)₄=0.000
Allele Frequency Aggregator	Asian	Sub	60	(A)₁₂=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	46	(A)₁₂=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	South Asian	Sub	20	(A)₁₂=1.00	delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₄=0.00
1000Genomes	Global	Study-wide	5008	- No frequency provided	dupA=0.3321
1000Genomes	African	Sub	1322	- No frequency provided	dupA=0.4455
1000Genomes	East Asian	Sub	1008	- No frequency provided	dupA=0.1974
1000Genomes	Europe	Sub	1006	- No frequency provided	dupA=0.3191
1000Genomes	South Asian	Sub	978	- No frequency provided	dupA=0.380
1000Genomes	American	Sub	694	- No frequency provided	dupA=0.262
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	- No frequency provided	dupA=0.3664
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	- No frequency provided	dupA=0.3735
The Danish reference pan genome	Danish	Study-wide	40	- No frequency provided	dupA=0.38

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 11	NC_000011.10:g.2983603_2983604del
GRCh38.p14 chr 11	NC_000011.10:g.2983604del
GRCh38.p14 chr 11	NC_000011.10:g.2983604dup
GRCh38.p14 chr 11	NC_000011.10:g.2983603_2983604dup
GRCh38.p14 chr 11	NC_000011.10:g.2983602_2983604dup
GRCh38.p14 chr 11	NC_000011.10:g.2983601_2983604dup
GRCh37.p13 chr 11	NC_000011.9:g.3004833_3004834del
GRCh37.p13 chr 11	NC_000011.9:g.3004834del
GRCh37.p13 chr 11	NC_000011.9:g.3004834dup
GRCh37.p13 chr 11	NC_000011.9:g.3004833_3004834dup
GRCh37.p13 chr 11	NC_000011.9:g.3004832_3004834dup
GRCh37.p13 chr 11	NC_000011.9:g.3004831_3004834dup
GRCh38.p14 chr 11 alt locus HSCHR11_1_CTG7	NT_187585.1:g.214681_214682del
GRCh38.p14 chr 11 alt locus HSCHR11_1_CTG7	NT_187585.1:g.214682del
GRCh38.p14 chr 11 alt locus HSCHR11_1_CTG7	NT_187585.1:g.214682dup
GRCh38.p14 chr 11 alt locus HSCHR11_1_CTG7	NT_187585.1:g.214681_214682dup
GRCh38.p14 chr 11 alt locus HSCHR11_1_CTG7	NT_187585.1:g.214680_214682dup
GRCh38.p14 chr 11 alt locus HSCHR11_1_CTG7	NT_187585.1:g.214679_214682dup

Gene: NAP1L4, nucleosome assembly protein 1 like 4 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
NAP1L4 transcript variant 2	NM_001369375.1:c.-17-4357… NM_001369375.1:c.-17-4357_-17-4356del	N/A	Intron Variant
NAP1L4 transcript variant 3	NM_001369376.1:c.-17-4357… NM_001369376.1:c.-17-4357_-17-4356del	N/A	Intron Variant
NAP1L4 transcript variant 4	NM_001369377.1:c.-17-4357… NM_001369377.1:c.-17-4357_-17-4356del	N/A	Intron Variant
NAP1L4 transcript variant 5	NM_001369378.1:c.-17-4357… NM_001369378.1:c.-17-4357_-17-4356del	N/A	Intron Variant
NAP1L4 transcript variant 6	NM_001369379.1:c.-17-4357… NM_001369379.1:c.-17-4357_-17-4356del	N/A	Intron Variant
NAP1L4 transcript variant 7	NM_001369380.1:c.-17-4357… NM_001369380.1:c.-17-4357_-17-4356del	N/A	Intron Variant
NAP1L4 transcript variant 8	NM_001369381.1:c.-17-4357… NM_001369381.1:c.-17-4357_-17-4356del	N/A	Intron Variant
NAP1L4 transcript variant 9	NM_001369382.1:c.-17-4357… NM_001369382.1:c.-17-4357_-17-4356del	N/A	Intron Variant
NAP1L4 transcript variant 10	NM_001369383.1:c.-17-4357… NM_001369383.1:c.-17-4357_-17-4356del	N/A	Intron Variant
NAP1L4 transcript variant 11	NM_001369384.1:c.-17-4357… NM_001369384.1:c.-17-4357_-17-4356del	N/A	Intron Variant
NAP1L4 transcript variant 12	NM_001369385.1:c.-17-4357… NM_001369385.1:c.-17-4357_-17-4356del	N/A	Intron Variant
NAP1L4 transcript variant 13	NM_001369386.1:c.-17-4357… NM_001369386.1:c.-17-4357_-17-4356del	N/A	Intron Variant
NAP1L4 transcript variant 14	NM_001369388.1:c.-17-4357… NM_001369388.1:c.-17-4357_-17-4356del	N/A	Intron Variant
NAP1L4 transcript variant 1	NM_005969.4:c.-17-4357_-1… NM_005969.4:c.-17-4357_-17-4356del	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)₁₂=	delAA	delA	dupA	dupAA	dupAAA	dup(A)₄
GRCh38.p14 chr 11	NC_000011.10:g.2983593_2983604=	NC_000011.10:g.2983603_2983604del	NC_000011.10:g.2983604del	NC_000011.10:g.2983604dup	NC_000011.10:g.2983603_2983604dup	NC_000011.10:g.2983602_2983604dup	NC_000011.10:g.2983601_2983604dup
GRCh37.p13 chr 11	NC_000011.9:g.3004823_3004834=	NC_000011.9:g.3004833_3004834del	NC_000011.9:g.3004834del	NC_000011.9:g.3004834dup	NC_000011.9:g.3004833_3004834dup	NC_000011.9:g.3004832_3004834dup	NC_000011.9:g.3004831_3004834dup
GRCh38.p14 chr 11 alt locus HSCHR11_1_CTG7	NT_187585.1:g.214671_214682=	NT_187585.1:g.214681_214682del	NT_187585.1:g.214682del	NT_187585.1:g.214682dup	NT_187585.1:g.214681_214682dup	NT_187585.1:g.214680_214682dup	NT_187585.1:g.214679_214682dup
NAP1L4 transcript variant 2	NM_001369375.1:c.-17-4356=	NM_001369375.1:c.-17-4357_-17-4356del	NM_001369375.1:c.-17-4356del	NM_001369375.1:c.-17-4356dup	NM_001369375.1:c.-17-4357_-17-4356dup	NM_001369375.1:c.-17-4358_-17-4356dup	NM_001369375.1:c.-17-4359_-17-4356dup
NAP1L4 transcript variant 3	NM_001369376.1:c.-17-4356=	NM_001369376.1:c.-17-4357_-17-4356del	NM_001369376.1:c.-17-4356del	NM_001369376.1:c.-17-4356dup	NM_001369376.1:c.-17-4357_-17-4356dup	NM_001369376.1:c.-17-4358_-17-4356dup	NM_001369376.1:c.-17-4359_-17-4356dup
NAP1L4 transcript variant 4	NM_001369377.1:c.-17-4356=	NM_001369377.1:c.-17-4357_-17-4356del	NM_001369377.1:c.-17-4356del	NM_001369377.1:c.-17-4356dup	NM_001369377.1:c.-17-4357_-17-4356dup	NM_001369377.1:c.-17-4358_-17-4356dup	NM_001369377.1:c.-17-4359_-17-4356dup
NAP1L4 transcript variant 5	NM_001369378.1:c.-17-4356=	NM_001369378.1:c.-17-4357_-17-4356del	NM_001369378.1:c.-17-4356del	NM_001369378.1:c.-17-4356dup	NM_001369378.1:c.-17-4357_-17-4356dup	NM_001369378.1:c.-17-4358_-17-4356dup	NM_001369378.1:c.-17-4359_-17-4356dup
NAP1L4 transcript variant 6	NM_001369379.1:c.-17-4356=	NM_001369379.1:c.-17-4357_-17-4356del	NM_001369379.1:c.-17-4356del	NM_001369379.1:c.-17-4356dup	NM_001369379.1:c.-17-4357_-17-4356dup	NM_001369379.1:c.-17-4358_-17-4356dup	NM_001369379.1:c.-17-4359_-17-4356dup
NAP1L4 transcript variant 7	NM_001369380.1:c.-17-4356=	NM_001369380.1:c.-17-4357_-17-4356del	NM_001369380.1:c.-17-4356del	NM_001369380.1:c.-17-4356dup	NM_001369380.1:c.-17-4357_-17-4356dup	NM_001369380.1:c.-17-4358_-17-4356dup	NM_001369380.1:c.-17-4359_-17-4356dup
NAP1L4 transcript variant 8	NM_001369381.1:c.-17-4356=	NM_001369381.1:c.-17-4357_-17-4356del	NM_001369381.1:c.-17-4356del	NM_001369381.1:c.-17-4356dup	NM_001369381.1:c.-17-4357_-17-4356dup	NM_001369381.1:c.-17-4358_-17-4356dup	NM_001369381.1:c.-17-4359_-17-4356dup
NAP1L4 transcript variant 9	NM_001369382.1:c.-17-4356=	NM_001369382.1:c.-17-4357_-17-4356del	NM_001369382.1:c.-17-4356del	NM_001369382.1:c.-17-4356dup	NM_001369382.1:c.-17-4357_-17-4356dup	NM_001369382.1:c.-17-4358_-17-4356dup	NM_001369382.1:c.-17-4359_-17-4356dup
NAP1L4 transcript variant 10	NM_001369383.1:c.-17-4356=	NM_001369383.1:c.-17-4357_-17-4356del	NM_001369383.1:c.-17-4356del	NM_001369383.1:c.-17-4356dup	NM_001369383.1:c.-17-4357_-17-4356dup	NM_001369383.1:c.-17-4358_-17-4356dup	NM_001369383.1:c.-17-4359_-17-4356dup
NAP1L4 transcript variant 11	NM_001369384.1:c.-17-4356=	NM_001369384.1:c.-17-4357_-17-4356del	NM_001369384.1:c.-17-4356del	NM_001369384.1:c.-17-4356dup	NM_001369384.1:c.-17-4357_-17-4356dup	NM_001369384.1:c.-17-4358_-17-4356dup	NM_001369384.1:c.-17-4359_-17-4356dup
NAP1L4 transcript variant 12	NM_001369385.1:c.-17-4356=	NM_001369385.1:c.-17-4357_-17-4356del	NM_001369385.1:c.-17-4356del	NM_001369385.1:c.-17-4356dup	NM_001369385.1:c.-17-4357_-17-4356dup	NM_001369385.1:c.-17-4358_-17-4356dup	NM_001369385.1:c.-17-4359_-17-4356dup
NAP1L4 transcript variant 13	NM_001369386.1:c.-17-4356=	NM_001369386.1:c.-17-4357_-17-4356del	NM_001369386.1:c.-17-4356del	NM_001369386.1:c.-17-4356dup	NM_001369386.1:c.-17-4357_-17-4356dup	NM_001369386.1:c.-17-4358_-17-4356dup	NM_001369386.1:c.-17-4359_-17-4356dup
NAP1L4 transcript variant 14	NM_001369388.1:c.-17-4356=	NM_001369388.1:c.-17-4357_-17-4356del	NM_001369388.1:c.-17-4356del	NM_001369388.1:c.-17-4356dup	NM_001369388.1:c.-17-4357_-17-4356dup	NM_001369388.1:c.-17-4358_-17-4356dup	NM_001369388.1:c.-17-4359_-17-4356dup
NAP1L4 transcript	NM_005969.3:c.-17-4356=	NM_005969.3:c.-17-4357_-17-4356del	NM_005969.3:c.-17-4356del	NM_005969.3:c.-17-4356dup	NM_005969.3:c.-17-4357_-17-4356dup	NM_005969.3:c.-17-4358_-17-4356dup	NM_005969.3:c.-17-4359_-17-4356dup
NAP1L4 transcript variant 1	NM_005969.4:c.-17-4356=	NM_005969.4:c.-17-4357_-17-4356del	NM_005969.4:c.-17-4356del	NM_005969.4:c.-17-4356dup	NM_005969.4:c.-17-4357_-17-4356dup	NM_005969.4:c.-17-4358_-17-4356dup	NM_005969.4:c.-17-4359_-17-4356dup
NAP1L4 transcript variant X1	XM_005252935.1:c.-17-4356=	XM_005252935.1:c.-17-4357_-17-4356del	XM_005252935.1:c.-17-4356del	XM_005252935.1:c.-17-4356dup	XM_005252935.1:c.-17-4357_-17-4356dup	XM_005252935.1:c.-17-4358_-17-4356dup	XM_005252935.1:c.-17-4359_-17-4356dup
NAP1L4 transcript variant X2	XM_005252936.1:c.-17-4356=	XM_005252936.1:c.-17-4357_-17-4356del	XM_005252936.1:c.-17-4356del	XM_005252936.1:c.-17-4356dup	XM_005252936.1:c.-17-4357_-17-4356dup	XM_005252936.1:c.-17-4358_-17-4356dup	XM_005252936.1:c.-17-4359_-17-4356dup
NAP1L4 transcript variant X3	XM_005252937.1:c.-17-4356=	XM_005252937.1:c.-17-4357_-17-4356del	XM_005252937.1:c.-17-4356del	XM_005252937.1:c.-17-4356dup	XM_005252937.1:c.-17-4357_-17-4356dup	XM_005252937.1:c.-17-4358_-17-4356dup	XM_005252937.1:c.-17-4359_-17-4356dup
NAP1L4 transcript variant X4	XM_005252938.1:c.-17-4356=	XM_005252938.1:c.-17-4357_-17-4356del	XM_005252938.1:c.-17-4356del	XM_005252938.1:c.-17-4356dup	XM_005252938.1:c.-17-4357_-17-4356dup	XM_005252938.1:c.-17-4358_-17-4356dup	XM_005252938.1:c.-17-4359_-17-4356dup

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	ss39948844	Oct 12, 2018 (152)
2	BUSHMAN	ss193214806	Oct 12, 2018 (152)
3	GMI	ss289049201	Oct 12, 2018 (152)
4	PJP	ss294685782	Oct 12, 2018 (152)
5	SSMP	ss664045592	Apr 01, 2015 (144)
6	1000GENOMES	ss1370429328	Aug 21, 2014 (142)
7	EVA_GENOME_DK	ss1574294773	Apr 01, 2015 (144)
8	EVA_UK10K_ALSPAC	ss1706973393	Apr 01, 2015 (144)
9	EVA_UK10K_TWINSUK	ss1706973434	Apr 01, 2015 (144)
10	HAMMER_LAB	ss1806662565	Sep 08, 2015 (146)
11	JJLAB	ss2031055379	Sep 14, 2016 (149)
12	SWEGEN	ss3007486395	Nov 08, 2017 (151)
13	SWEGEN	ss3007486396	Nov 08, 2017 (151)
14	EVA_DECODE	ss3691090348	Jul 13, 2019 (153)
15	EVA_DECODE	ss3691090349	Jul 13, 2019 (153)
16	EVA_DECODE	ss3691090350	Jul 13, 2019 (153)
17	PACBIO	ss3786845009	Jul 13, 2019 (153)
18	KHV_HUMAN_GENOMES	ss3814210408	Jul 13, 2019 (153)
19	EVA	ss3832440925	Apr 26, 2020 (154)
20	EVA	ss3839762908	Apr 26, 2020 (154)
21	EVA	ss3845238795	Apr 26, 2020 (154)
22	KOGIC	ss3969079919	Apr 26, 2020 (154)
23	KOGIC	ss3969079920	Apr 26, 2020 (154)
24	VINODS	ss4029433320	Apr 26, 2021 (155)
25	GNOMAD	ss4229005833	Apr 26, 2021 (155)
26	GNOMAD	ss4229005834	Apr 26, 2021 (155)
27	GNOMAD	ss4229005835	Apr 26, 2021 (155)
28	GNOMAD	ss4229005836	Apr 26, 2021 (155)
29	GNOMAD	ss4229005837	Apr 26, 2021 (155)
30	TOMMO_GENOMICS	ss5200398563	Apr 26, 2021 (155)
31	TOMMO_GENOMICS	ss5200398564	Apr 26, 2021 (155)
32	TOMMO_GENOMICS	ss5200398565	Apr 26, 2021 (155)
33	1000G_HIGH_COVERAGE	ss5286177083	Oct 16, 2022 (156)
34	1000G_HIGH_COVERAGE	ss5286177084	Oct 16, 2022 (156)
35	1000G_HIGH_COVERAGE	ss5286177085	Oct 16, 2022 (156)
36	HUGCELL_USP	ss5481516202	Oct 16, 2022 (156)
37	HUGCELL_USP	ss5481516203	Oct 16, 2022 (156)
38	TOMMO_GENOMICS	ss5747073112	Oct 16, 2022 (156)
39	TOMMO_GENOMICS	ss5747073113	Oct 16, 2022 (156)
40	TOMMO_GENOMICS	ss5747073114	Oct 16, 2022 (156)
41	EVA	ss5836170965	Oct 16, 2022 (156)
42	EVA	ss5849830539	Oct 16, 2022 (156)
43	EVA	ss5918583396	Oct 16, 2022 (156)
44	EVA	ss5941811122	Oct 16, 2022 (156)
45	1000Genomes	NC_000011.9 - 3004823	Oct 12, 2018 (152)
46	The Avon Longitudinal Study of Parents and Children	NC_000011.9 - 3004823	Oct 12, 2018 (152)
47	The Danish reference pan genome	NC_000011.9 - 3004823	Apr 26, 2020 (154)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 369589290 (NC_000011.10:2983592::A 56192/130138) Row 369589291 (NC_000011.10:2983592::AA 59/130340) Row 369589292 (NC_000011.10:2983592::AAA 2/130374)...	-	Apr 26, 2021 (155)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 369589290 (NC_000011.10:2983592::A 56192/130138) Row 369589291 (NC_000011.10:2983592::AA 59/130340) Row 369589292 (NC_000011.10:2983592::AAA 2/130374)...	-	Apr 26, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 369589290 (NC_000011.10:2983592::A 56192/130138) Row 369589291 (NC_000011.10:2983592::AA 59/130340) Row 369589292 (NC_000011.10:2983592::AAA 2/130374)...	-	Apr 26, 2021 (155)
51	gnomAD - Genomes Submission ignored due to conflicting rows: Row 369589290 (NC_000011.10:2983592::A 56192/130138) Row 369589291 (NC_000011.10:2983592::AA 59/130340) Row 369589292 (NC_000011.10:2983592::AAA 2/130374)...	-	Apr 26, 2021 (155)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 369589290 (NC_000011.10:2983592::A 56192/130138) Row 369589291 (NC_000011.10:2983592::AA 59/130340) Row 369589292 (NC_000011.10:2983592::AAA 2/130374)...	-	Apr 26, 2021 (155)
53	gnomAD - Genomes Submission ignored due to conflicting rows: Row 369589290 (NC_000011.10:2983592::A 56192/130138) Row 369589291 (NC_000011.10:2983592::AA 59/130340) Row 369589292 (NC_000011.10:2983592::AAA 2/130374)...	-	Apr 26, 2021 (155)
54	Korean Genome Project Submission ignored due to conflicting rows: Row 25457920 (NC_000011.10:2983592::A 172/500) Row 25457921 (NC_000011.10:2983592::AA 5/500)	-	Apr 26, 2020 (154)
55	Korean Genome Project Submission ignored due to conflicting rows: Row 25457920 (NC_000011.10:2983592::A 172/500) Row 25457921 (NC_000011.10:2983592::AA 5/500)	-	Apr 26, 2020 (154)
56	8.3KJPN Submission ignored due to conflicting rows: Row 58367870 (NC_000011.9:3004822::A 4450/16758) Row 58367871 (NC_000011.9:3004822:A: 26/16758) Row 58367872 (NC_000011.9:3004822::AA 4/16758)	-	Apr 26, 2021 (155)
57	8.3KJPN Submission ignored due to conflicting rows: Row 58367870 (NC_000011.9:3004822::A 4450/16758) Row 58367871 (NC_000011.9:3004822:A: 26/16758) Row 58367872 (NC_000011.9:3004822::AA 4/16758)	-	Apr 26, 2021 (155)
58	8.3KJPN Submission ignored due to conflicting rows: Row 58367870 (NC_000011.9:3004822::A 4450/16758) Row 58367871 (NC_000011.9:3004822:A: 26/16758) Row 58367872 (NC_000011.9:3004822::AA 4/16758)	-	Apr 26, 2021 (155)
59	14KJPN Submission ignored due to conflicting rows: Row 80910216 (NC_000011.10:2983592::A 7396/28258) Row 80910217 (NC_000011.10:2983592:A: 38/28258) Row 80910218 (NC_000011.10:2983592::AA 4/28258)	-	Oct 16, 2022 (156)
60	14KJPN Submission ignored due to conflicting rows: Row 80910216 (NC_000011.10:2983592::A 7396/28258) Row 80910217 (NC_000011.10:2983592:A: 38/28258) Row 80910218 (NC_000011.10:2983592::AA 4/28258)	-	Oct 16, 2022 (156)
61	14KJPN Submission ignored due to conflicting rows: Row 80910216 (NC_000011.10:2983592::A 7396/28258) Row 80910217 (NC_000011.10:2983592:A: 38/28258) Row 80910218 (NC_000011.10:2983592::AA 4/28258)	-	Oct 16, 2022 (156)
62	UK 10K study - Twins	NC_000011.9 - 3004823	Oct 12, 2018 (152)
63	ALFA	NC_000011.10 - 2983593	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
ss4229005837	NC_000011.10:2983592:AA:	NC_000011.10:2983592:AAAAAAAAAAAA:… NC_000011.10:2983592:AAAAAAAAAAAA:AAAAAAAAAA	(self)
11390037255	NC_000011.10:2983592:AAAAAAAAAAAA:… NC_000011.10:2983592:AAAAAAAAAAAA:AAAAAAAAAA	NC_000011.10:2983592:AAAAAAAAAAAA:… NC_000011.10:2983592:AAAAAAAAAAAA:AAAAAAAAAA	(self)
ss3786845009, ss5200398564	NC_000011.9:3004822:A:	NC_000011.10:2983592:AAAAAAAAAAAA:… NC_000011.10:2983592:AAAAAAAAAAAA:AAAAAAAAAAA	(self)
ss3691090350, ss5286177084, ss5481516203, ss5747073113	NC_000011.10:2983592:A:	NC_000011.10:2983592:AAAAAAAAAAAA:… NC_000011.10:2983592:AAAAAAAAAAAA:AAAAAAAAAAA	(self)
11390037255	NC_000011.10:2983592:AAAAAAAAAAAA:… NC_000011.10:2983592:AAAAAAAAAAAA:AAAAAAAAAAA	NC_000011.10:2983592:AAAAAAAAAAAA:… NC_000011.10:2983592:AAAAAAAAAAAA:AAAAAAAAAAA	(self)
ss294685782	NC_000011.8:2961404::A	NC_000011.10:2983592:AAAAAAAAAAAA:… NC_000011.10:2983592:AAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss289049201	NC_000011.8:2961410::A	NC_000011.10:2983592:AAAAAAAAAAAA:… NC_000011.10:2983592:AAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
52337008, 29075802, 275382, 29075802, ss664045592, ss1370429328, ss1574294773, ss1706973393, ss1706973434, ss1806662565, ss2031055379, ss3007486395, ss3832440925, ss3839762908, ss5200398563, ss5836170965, ss5941811122	NC_000011.9:3004822::A	NC_000011.10:2983592:AAAAAAAAAAAA:… NC_000011.10:2983592:AAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss3814210408, ss3845238795, ss3969079919, ss4229005833, ss5286177083, ss5481516202, ss5747073112, ss5849830539, ss5918583396	NC_000011.10:2983592::A	NC_000011.10:2983592:AAAAAAAAAAAA:… NC_000011.10:2983592:AAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
11390037255	NC_000011.10:2983592:AAAAAAAAAAAA:… NC_000011.10:2983592:AAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000011.10:2983592:AAAAAAAAAAAA:… NC_000011.10:2983592:AAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss3691090349	NC_000011.10:2983593::A	NC_000011.10:2983592:AAAAAAAAAAAA:… NC_000011.10:2983592:AAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss39948844, ss193214806	NT_009237.18:2944822::A	NC_000011.10:2983592:AAAAAAAAAAAA:… NC_000011.10:2983592:AAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss4029433320	NT_187585.1:214670::A	NC_000011.10:2983592:AAAAAAAAAAAA:… NC_000011.10:2983592:AAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss3007486396, ss5200398565	NC_000011.9:3004822::AA	NC_000011.10:2983592:AAAAAAAAAAAA:… NC_000011.10:2983592:AAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss3969079920, ss4229005834, ss5286177085, ss5747073114	NC_000011.10:2983592::AA	NC_000011.10:2983592:AAAAAAAAAAAA:… NC_000011.10:2983592:AAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
11390037255	NC_000011.10:2983592:AAAAAAAAAAAA:… NC_000011.10:2983592:AAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000011.10:2983592:AAAAAAAAAAAA:… NC_000011.10:2983592:AAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss3691090348	NC_000011.10:2983593::AA	NC_000011.10:2983592:AAAAAAAAAAAA:… NC_000011.10:2983592:AAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss4229005835	NC_000011.10:2983592::AAA	NC_000011.10:2983592:AAAAAAAAAAAA:… NC_000011.10:2983592:AAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
11390037255	NC_000011.10:2983592:AAAAAAAAAAAA:… NC_000011.10:2983592:AAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000011.10:2983592:AAAAAAAAAAAA:… NC_000011.10:2983592:AAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss4229005836	NC_000011.10:2983592::AAAA	NC_000011.10:2983592:AAAAAAAAAAAA:… NC_000011.10:2983592:AAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
11390037255	NC_000011.10:2983592:AAAAAAAAAAAA:… NC_000011.10:2983592:AAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000011.10:2983592:AAAAAAAAAAAA:… NC_000011.10:2983592:AAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(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 rs545028521

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

rs545028521