Name: rs11291606
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.

rs11291606

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr5:74771854-74771869 (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)₁₅ / del(A)₁₀ / del(A)₉ / de…
del(A)₁₅ / del(A)₁₀ / del(A)₉ / del(A)₈ / del(A)₇ / del(A)₆ / del(A)₄ / delAAA / delAA / delA / dupA / dupAAA / dup(A)₈ / dup(A)₉
Variation Type: Indel Insertion and Deletion
Frequency: del(A)₇=0.000019 (5/264690, TOPMED)
del(A)₁₀=0.0000 (0/8034, ALFA)
del(A)₉=0.0000 (0/8034, ALFA) (+ 10 more)
del(A)₈=0.0000 (0/8034, ALFA)
del(A)₇=0.0000 (0/8034, ALFA)
del(A)₆=0.0000 (0/8034, ALFA)
delAAA=0.0000 (0/8034, ALFA)
delAA=0.0000 (0/8034, ALFA)
delA=0.0000 (0/8034, ALFA)
dupA=0.0000 (0/8034, ALFA)
dupAAA=0.0000 (0/8034, ALFA)
del(A)₁₅=0.1040 (401/3854, ALSPAC)
delAA=0.07 (3/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: NSA2 : 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	8034	AAAAAAAAAAAAAAAA=1.0000	AAAAAA=0.0000, AAAAAAA=0.0000, AAAAAAAA=0.0000, AAAAAAAAA=0.0000, AAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
European	Sub	5926	AAAAAAAAAAAAAAAA=1.0000	AAAAAA=0.0000, AAAAAAA=0.0000, AAAAAAAA=0.0000, AAAAAAAAA=0.0000, AAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
African	Sub	1066	AAAAAAAAAAAAAAAA=1.0000	AAAAAA=0.0000, AAAAAAA=0.0000, AAAAAAAA=0.0000, AAAAAAAAA=0.0000, AAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
African Others	Sub	46	AAAAAAAAAAAAAAAA=1.00	AAAAAA=0.00, AAAAAAA=0.00, AAAAAAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
African American	Sub	1020	AAAAAAAAAAAAAAAA=1.0000	AAAAAA=0.0000, AAAAAAA=0.0000, AAAAAAAA=0.0000, AAAAAAAAA=0.0000, AAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
Asian	Sub	98	AAAAAAAAAAAAAAAA=1.00	AAAAAA=0.00, AAAAAAA=0.00, AAAAAAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
East Asian	Sub	78	AAAAAAAAAAAAAAAA=1.00	AAAAAA=0.00, AAAAAAA=0.00, AAAAAAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Other Asian	Sub	20	AAAAAAAAAAAAAAAA=1.00	AAAAAA=0.00, AAAAAAA=0.00, AAAAAAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Latin American 1	Sub	90	AAAAAAAAAAAAAAAA=1.00	AAAAAA=0.00, AAAAAAA=0.00, AAAAAAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Latin American 2	Sub	474	AAAAAAAAAAAAAAAA=1.000	AAAAAA=0.000, AAAAAAA=0.000, AAAAAAAA=0.000, AAAAAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A
South Asian	Sub	70	AAAAAAAAAAAAAAAA=1.00	AAAAAA=0.00, AAAAAAA=0.00, AAAAAAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Other	Sub	310	AAAAAAAAAAAAAAAA=1.000	AAAAAA=0.000, AAAAAAA=0.000, AAAAAAAA=0.000, AAAAAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=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").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	(A)₁₆=0.999981	del(A)₇=0.000019
Allele Frequency Aggregator	Total	Global	8034	(A)₁₆=1.0000	del(A)₁₀=0.0000, del(A)₉=0.0000, del(A)₈=0.0000, del(A)₇=0.0000, del(A)₆=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAAA=0.0000
Allele Frequency Aggregator	European	Sub	5926	(A)₁₆=1.0000	del(A)₁₀=0.0000, del(A)₉=0.0000, del(A)₈=0.0000, del(A)₇=0.0000, del(A)₆=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAAA=0.0000
Allele Frequency Aggregator	African	Sub	1066	(A)₁₆=1.0000	del(A)₁₀=0.0000, del(A)₉=0.0000, del(A)₈=0.0000, del(A)₇=0.0000, del(A)₆=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAAA=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	474	(A)₁₆=1.000	del(A)₁₀=0.000, del(A)₉=0.000, del(A)₈=0.000, del(A)₇=0.000, del(A)₆=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAAA=0.000
Allele Frequency Aggregator	Other	Sub	310	(A)₁₆=1.000	del(A)₁₀=0.000, del(A)₉=0.000, del(A)₈=0.000, del(A)₇=0.000, del(A)₆=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAAA=0.000
Allele Frequency Aggregator	Asian	Sub	98	(A)₁₆=1.00	del(A)₁₀=0.00, del(A)₉=0.00, del(A)₈=0.00, del(A)₇=0.00, del(A)₆=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAAA=0.00
Allele Frequency Aggregator	Latin American 1	Sub	90	(A)₁₆=1.00	del(A)₁₀=0.00, del(A)₉=0.00, del(A)₈=0.00, del(A)₇=0.00, del(A)₆=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAAA=0.00
Allele Frequency Aggregator	South Asian	Sub	70	(A)₁₆=1.00	del(A)₁₀=0.00, del(A)₉=0.00, del(A)₈=0.00, del(A)₇=0.00, del(A)₆=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAAA=0.00
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	(A)₁₆=0.8960	del(A)₁₅=0.1040
The Danish reference pan genome	Danish	Study-wide	40	(A)₁₆=0.93	delAA=0.07

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 5	NC_000005.10:g.74771855_74771869del
GRCh38.p14 chr 5	NC_000005.10:g.74771860_74771869del
GRCh38.p14 chr 5	NC_000005.10:g.74771861_74771869del
GRCh38.p14 chr 5	NC_000005.10:g.74771862_74771869del
GRCh38.p14 chr 5	NC_000005.10:g.74771863_74771869del
GRCh38.p14 chr 5	NC_000005.10:g.74771864_74771869del
GRCh38.p14 chr 5	NC_000005.10:g.74771866_74771869del
GRCh38.p14 chr 5	NC_000005.10:g.74771867_74771869del
GRCh38.p14 chr 5	NC_000005.10:g.74771868_74771869del
GRCh38.p14 chr 5	NC_000005.10:g.74771869del
GRCh38.p14 chr 5	NC_000005.10:g.74771869dup
GRCh38.p14 chr 5	NC_000005.10:g.74771867_74771869dup
GRCh38.p14 chr 5	NC_000005.10:g.74771862_74771869dup
GRCh38.p14 chr 5	NC_000005.10:g.74771861_74771869dup
GRCh37.p13 chr 5	NC_000005.9:g.74067680_74067694del
GRCh37.p13 chr 5	NC_000005.9:g.74067685_74067694del
GRCh37.p13 chr 5	NC_000005.9:g.74067686_74067694del
GRCh37.p13 chr 5	NC_000005.9:g.74067687_74067694del
GRCh37.p13 chr 5	NC_000005.9:g.74067688_74067694del
GRCh37.p13 chr 5	NC_000005.9:g.74067689_74067694del
GRCh37.p13 chr 5	NC_000005.9:g.74067691_74067694del
GRCh37.p13 chr 5	NC_000005.9:g.74067692_74067694del
GRCh37.p13 chr 5	NC_000005.9:g.74067693_74067694del
GRCh37.p13 chr 5	NC_000005.9:g.74067694del
GRCh37.p13 chr 5	NC_000005.9:g.74067694dup
GRCh37.p13 chr 5	NC_000005.9:g.74067692_74067694dup
GRCh37.p13 chr 5	NC_000005.9:g.74067687_74067694dup
GRCh37.p13 chr 5	NC_000005.9:g.74067686_74067694dup
GFM2 RefSeqGene	NG_011531.1:g.350_364del
GFM2 RefSeqGene	NG_011531.1:g.355_364del
GFM2 RefSeqGene	NG_011531.1:g.356_364del
GFM2 RefSeqGene	NG_011531.1:g.357_364del
GFM2 RefSeqGene	NG_011531.1:g.358_364del
GFM2 RefSeqGene	NG_011531.1:g.359_364del
GFM2 RefSeqGene	NG_011531.1:g.361_364del
GFM2 RefSeqGene	NG_011531.1:g.362_364del
GFM2 RefSeqGene	NG_011531.1:g.363_364del
GFM2 RefSeqGene	NG_011531.1:g.364del
GFM2 RefSeqGene	NG_011531.1:g.364dup
GFM2 RefSeqGene	NG_011531.1:g.362_364dup
GFM2 RefSeqGene	NG_011531.1:g.357_364dup
GFM2 RefSeqGene	NG_011531.1:g.356_364dup

Gene: NSA2, NSA2 ribosome biogenesis factor (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
NSA2 transcript variant 2	NM_001271665.2:c.522+1045… NM_001271665.2:c.522+1045_522+1059del	N/A	Intron Variant
NSA2 transcript variant 4	NM_001364506.2:c.523-458_… NM_001364506.2:c.523-458_523-444del	N/A	Intron Variant
NSA2 transcript variant 1	NM_014886.6:c.522+1045_52… NM_014886.6:c.522+1045_522+1059del	N/A	Intron Variant
NSA2 transcript variant 3	NR_073403.2:n.	N/A	Intron Variant
NSA2 transcript variant 5	NR_157205.2:n.	N/A	Intron Variant
NSA2 transcript variant 6	NR_157206.2: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)₁₅	del(A)₁₀	del(A)₉	del(A)₈	del(A)₇	del(A)₆	del(A)₄	delAAA	delAA	delA	dupA	dupAAA	dup(A)₈	dup(A)₉
GRCh38.p14 chr 5	NC_000005.10:g.74771854_74771869=	NC_000005.10:g.74771855_74771869del	NC_000005.10:g.74771860_74771869del	NC_000005.10:g.74771861_74771869del	NC_000005.10:g.74771862_74771869del	NC_000005.10:g.74771863_74771869del	NC_000005.10:g.74771864_74771869del	NC_000005.10:g.74771866_74771869del	NC_000005.10:g.74771867_74771869del	NC_000005.10:g.74771868_74771869del	NC_000005.10:g.74771869del	NC_000005.10:g.74771869dup	NC_000005.10:g.74771867_74771869dup	NC_000005.10:g.74771862_74771869dup	NC_000005.10:g.74771861_74771869dup
GRCh37.p13 chr 5	NC_000005.9:g.74067679_74067694=	NC_000005.9:g.74067680_74067694del	NC_000005.9:g.74067685_74067694del	NC_000005.9:g.74067686_74067694del	NC_000005.9:g.74067687_74067694del	NC_000005.9:g.74067688_74067694del	NC_000005.9:g.74067689_74067694del	NC_000005.9:g.74067691_74067694del	NC_000005.9:g.74067692_74067694del	NC_000005.9:g.74067693_74067694del	NC_000005.9:g.74067694del	NC_000005.9:g.74067694dup	NC_000005.9:g.74067692_74067694dup	NC_000005.9:g.74067687_74067694dup	NC_000005.9:g.74067686_74067694dup
GFM2 RefSeqGene	NG_011531.1:g.349_364=	NG_011531.1:g.350_364del	NG_011531.1:g.355_364del	NG_011531.1:g.356_364del	NG_011531.1:g.357_364del	NG_011531.1:g.358_364del	NG_011531.1:g.359_364del	NG_011531.1:g.361_364del	NG_011531.1:g.362_364del	NG_011531.1:g.363_364del	NG_011531.1:g.364del	NG_011531.1:g.364dup	NG_011531.1:g.362_364dup	NG_011531.1:g.357_364dup	NG_011531.1:g.356_364dup
NSA2 transcript variant 2	NM_001271665.1:c.522+1044=	NM_001271665.1:c.522+1045_522+1059del	NM_001271665.1:c.522+1050_522+1059del	NM_001271665.1:c.522+1051_522+1059del	NM_001271665.1:c.522+1052_522+1059del	NM_001271665.1:c.522+1053_522+1059del	NM_001271665.1:c.522+1054_522+1059del	NM_001271665.1:c.522+1056_522+1059del	NM_001271665.1:c.522+1057_522+1059del	NM_001271665.1:c.522+1058_522+1059del	NM_001271665.1:c.522+1059del	NM_001271665.1:c.522+1059dup	NM_001271665.1:c.522+1057_522+1059dup	NM_001271665.1:c.522+1052_522+1059dup	NM_001271665.1:c.522+1051_522+1059dup
NSA2 transcript variant 2	NM_001271665.2:c.522+1044=	NM_001271665.2:c.522+1045_522+1059del	NM_001271665.2:c.522+1050_522+1059del	NM_001271665.2:c.522+1051_522+1059del	NM_001271665.2:c.522+1052_522+1059del	NM_001271665.2:c.522+1053_522+1059del	NM_001271665.2:c.522+1054_522+1059del	NM_001271665.2:c.522+1056_522+1059del	NM_001271665.2:c.522+1057_522+1059del	NM_001271665.2:c.522+1058_522+1059del	NM_001271665.2:c.522+1059del	NM_001271665.2:c.522+1059dup	NM_001271665.2:c.522+1057_522+1059dup	NM_001271665.2:c.522+1052_522+1059dup	NM_001271665.2:c.522+1051_522+1059dup
NSA2 transcript variant 4	NM_001364506.2:c.523-459=	NM_001364506.2:c.523-458_523-444del	NM_001364506.2:c.523-453_523-444del	NM_001364506.2:c.523-452_523-444del	NM_001364506.2:c.523-451_523-444del	NM_001364506.2:c.523-450_523-444del	NM_001364506.2:c.523-449_523-444del	NM_001364506.2:c.523-447_523-444del	NM_001364506.2:c.523-446_523-444del	NM_001364506.2:c.523-445_523-444del	NM_001364506.2:c.523-444del	NM_001364506.2:c.523-444dup	NM_001364506.2:c.523-446_523-444dup	NM_001364506.2:c.523-451_523-444dup	NM_001364506.2:c.523-452_523-444dup
NSA2 transcript variant 1	NM_014886.4:c.522+1044=	NM_014886.4:c.522+1045_522+1059del	NM_014886.4:c.522+1050_522+1059del	NM_014886.4:c.522+1051_522+1059del	NM_014886.4:c.522+1052_522+1059del	NM_014886.4:c.522+1053_522+1059del	NM_014886.4:c.522+1054_522+1059del	NM_014886.4:c.522+1056_522+1059del	NM_014886.4:c.522+1057_522+1059del	NM_014886.4:c.522+1058_522+1059del	NM_014886.4:c.522+1059del	NM_014886.4:c.522+1059dup	NM_014886.4:c.522+1057_522+1059dup	NM_014886.4:c.522+1052_522+1059dup	NM_014886.4:c.522+1051_522+1059dup
NSA2 transcript variant 1	NM_014886.6:c.522+1044=	NM_014886.6:c.522+1045_522+1059del	NM_014886.6:c.522+1050_522+1059del	NM_014886.6:c.522+1051_522+1059del	NM_014886.6:c.522+1052_522+1059del	NM_014886.6:c.522+1053_522+1059del	NM_014886.6:c.522+1054_522+1059del	NM_014886.6:c.522+1056_522+1059del	NM_014886.6:c.522+1057_522+1059del	NM_014886.6:c.522+1058_522+1059del	NM_014886.6:c.522+1059del	NM_014886.6:c.522+1059dup	NM_014886.6:c.522+1057_522+1059dup	NM_014886.6:c.522+1052_522+1059dup	NM_014886.6:c.522+1051_522+1059dup

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#.

38 SubSNP, 24 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	BUSHMAN	ss193806286	Jul 04, 2010 (132)
2	BILGI_BIOE	ss666314580	Apr 25, 2013 (138)
3	EVA_GENOME_DK	ss1576537183	Apr 01, 2015 (144)
4	EVA_UK10K_ALSPAC	ss1704720419	Apr 01, 2015 (144)
5	EVA_UK10K_TWINSUK	ss1704720504	Apr 01, 2015 (144)
6	EVA_UK10K_ALSPAC	ss1710214547	Apr 01, 2015 (144)
7	EVA_UK10K_TWINSUK	ss1710214548	Apr 01, 2015 (144)
8	EVA_DECODE	ss3714924676	Jul 13, 2019 (153)
9	EVA_DECODE	ss3714924677	Jul 13, 2019 (153)
10	EVA_DECODE	ss3714924678	Jul 13, 2019 (153)
11	EVA_DECODE	ss3714924679	Jul 13, 2019 (153)
12	EVA_DECODE	ss3714924680	Jul 13, 2019 (153)
13	EVA_DECODE	ss3714924681	Jul 13, 2019 (153)
14	ACPOP	ss3732463478	Jul 13, 2019 (153)
15	ACPOP	ss3732463479	Jul 13, 2019 (153)
16	EVA	ss3829305934	Apr 26, 2020 (154)
17	GNOMAD	ss4106680091	Apr 26, 2021 (155)
18	GNOMAD	ss4106680092	Apr 26, 2021 (155)
19	GNOMAD	ss4106680093	Apr 26, 2021 (155)
20	GNOMAD	ss4106680094	Apr 26, 2021 (155)
21	GNOMAD	ss4106680095	Apr 26, 2021 (155)
22	GNOMAD	ss4106680096	Apr 26, 2021 (155)
23	GNOMAD	ss4106680097	Apr 26, 2021 (155)
24	GNOMAD	ss4106680098	Apr 26, 2021 (155)
25	GNOMAD	ss4106680099	Apr 26, 2021 (155)
26	TOPMED	ss4664340754	Apr 26, 2021 (155)
27	TOMMO_GENOMICS	ss5172322230	Apr 26, 2021 (155)
28	TOMMO_GENOMICS	ss5172322231	Apr 26, 2021 (155)
29	TOMMO_GENOMICS	ss5172322232	Apr 26, 2021 (155)
30	1000G_HIGH_COVERAGE	ss5264414833	Oct 13, 2022 (156)
31	HUGCELL_USP	ss5462544691	Oct 13, 2022 (156)
32	HUGCELL_USP	ss5462544692	Oct 13, 2022 (156)
33	HUGCELL_USP	ss5462544694	Oct 13, 2022 (156)
34	TOMMO_GENOMICS	ss5708884154	Oct 13, 2022 (156)
35	TOMMO_GENOMICS	ss5708884155	Oct 13, 2022 (156)
36	TOMMO_GENOMICS	ss5708884156	Oct 13, 2022 (156)
37	TOMMO_GENOMICS	ss5708884157	Oct 13, 2022 (156)
38	EVA	ss5854862809	Oct 13, 2022 (156)
39	The Avon Longitudinal Study of Parents and Children	NC_000005.9 - 74067679	Oct 12, 2018 (152)
40	The Danish reference pan genome	NC_000005.9 - 74067679	Apr 26, 2020 (154)
41	gnomAD - Genomes Submission ignored due to conflicting rows: Row 192365903 (NC_000005.10:74771853::A 165/70646) Row 192365904 (NC_000005.10:74771853:A: 5168/70792) Row 192365905 (NC_000005.10:74771853:AA: 17045/70362)...	-	Apr 26, 2021 (155)
42	gnomAD - Genomes Submission ignored due to conflicting rows: Row 192365903 (NC_000005.10:74771853::A 165/70646) Row 192365904 (NC_000005.10:74771853:A: 5168/70792) Row 192365905 (NC_000005.10:74771853:AA: 17045/70362)...	-	Apr 26, 2021 (155)
43	gnomAD - Genomes Submission ignored due to conflicting rows: Row 192365903 (NC_000005.10:74771853::A 165/70646) Row 192365904 (NC_000005.10:74771853:A: 5168/70792) Row 192365905 (NC_000005.10:74771853:AA: 17045/70362)...	-	Apr 26, 2021 (155)
44	gnomAD - Genomes Submission ignored due to conflicting rows: Row 192365903 (NC_000005.10:74771853::A 165/70646) Row 192365904 (NC_000005.10:74771853:A: 5168/70792) Row 192365905 (NC_000005.10:74771853:AA: 17045/70362)...	-	Apr 26, 2021 (155)
45	gnomAD - Genomes Submission ignored due to conflicting rows: Row 192365903 (NC_000005.10:74771853::A 165/70646) Row 192365904 (NC_000005.10:74771853:A: 5168/70792) Row 192365905 (NC_000005.10:74771853:AA: 17045/70362)...	-	Apr 26, 2021 (155)
46	gnomAD - Genomes Submission ignored due to conflicting rows: Row 192365903 (NC_000005.10:74771853::A 165/70646) Row 192365904 (NC_000005.10:74771853:A: 5168/70792) Row 192365905 (NC_000005.10:74771853:AA: 17045/70362)...	-	Apr 26, 2021 (155)
47	gnomAD - Genomes Submission ignored due to conflicting rows: Row 192365903 (NC_000005.10:74771853::A 165/70646) Row 192365904 (NC_000005.10:74771853:A: 5168/70792) Row 192365905 (NC_000005.10:74771853:AA: 17045/70362)...	-	Apr 26, 2021 (155)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 192365903 (NC_000005.10:74771853::A 165/70646) Row 192365904 (NC_000005.10:74771853:A: 5168/70792) Row 192365905 (NC_000005.10:74771853:AA: 17045/70362)...	-	Apr 26, 2021 (155)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 192365903 (NC_000005.10:74771853::A 165/70646) Row 192365904 (NC_000005.10:74771853:A: 5168/70792) Row 192365905 (NC_000005.10:74771853:AA: 17045/70362)...	-	Apr 26, 2021 (155)
50	Northern Sweden Submission ignored due to conflicting rows: Row 5748343 (NC_000005.9:74067678:AA: 25/532) Row 5748344 (NC_000005.9:74067678::AAAAAAAA 6/532)	-	Jul 13, 2019 (153)
51	Northern Sweden Submission ignored due to conflicting rows: Row 5748343 (NC_000005.9:74067678:AA: 25/532) Row 5748344 (NC_000005.9:74067678::AAAAAAAA 6/532)	-	Jul 13, 2019 (153)
52	8.3KJPN Submission ignored due to conflicting rows: Row 30291537 (NC_000005.9:74067678::A 458/16438) Row 30291538 (NC_000005.9:74067678:AA: 118/16438) Row 30291539 (NC_000005.9:74067678:A: 16/16438)	-	Apr 26, 2021 (155)
53	8.3KJPN Submission ignored due to conflicting rows: Row 30291537 (NC_000005.9:74067678::A 458/16438) Row 30291538 (NC_000005.9:74067678:AA: 118/16438) Row 30291539 (NC_000005.9:74067678:A: 16/16438)	-	Apr 26, 2021 (155)
54	8.3KJPN Submission ignored due to conflicting rows: Row 30291537 (NC_000005.9:74067678::A 458/16438) Row 30291538 (NC_000005.9:74067678:AA: 118/16438) Row 30291539 (NC_000005.9:74067678:A: 16/16438)	-	Apr 26, 2021 (155)
55	14KJPN Submission ignored due to conflicting rows: Row 42721258 (NC_000005.10:74771853::A 702/28204) Row 42721259 (NC_000005.10:74771853:A: 19/28204) Row 42721260 (NC_000005.10:74771853:AA: 186/28204)...	-	Oct 13, 2022 (156)
56	14KJPN Submission ignored due to conflicting rows: Row 42721258 (NC_000005.10:74771853::A 702/28204) Row 42721259 (NC_000005.10:74771853:A: 19/28204) Row 42721260 (NC_000005.10:74771853:AA: 186/28204)...	-	Oct 13, 2022 (156)
57	14KJPN Submission ignored due to conflicting rows: Row 42721258 (NC_000005.10:74771853::A 702/28204) Row 42721259 (NC_000005.10:74771853:A: 19/28204) Row 42721260 (NC_000005.10:74771853:AA: 186/28204)...	-	Oct 13, 2022 (156)
58	14KJPN Submission ignored due to conflicting rows: Row 42721258 (NC_000005.10:74771853::A 702/28204) Row 42721259 (NC_000005.10:74771853:A: 19/28204) Row 42721260 (NC_000005.10:74771853:AA: 186/28204)...	-	Oct 13, 2022 (156)
59	TopMed	NC_000005.10 - 74771854	Apr 26, 2021 (155)
60	UK 10K study - Twins Submission ignored due to conflicting rows: Row 15129920 (NC_000005.9:74067691:AA: 494/3708) Row 15129921 (NC_000005.9:74067678:AAAAAAAAAAAAAAA: 353/3708)	-	Apr 26, 2020 (154)
61	UK 10K study - Twins	-	Oct 12, 2018 (152)
62	ALFA	NC_000005.10 - 74771854	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).

Associated ID	History Updated (Build)
rs34377765	May 23, 2006 (127)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
15129921, ss1704720419, ss1704720504	NC_000005.9:74067678:AAAAAAAAAAAAA… NC_000005.9:74067678:AAAAAAAAAAAAAAA:	NC_000005.10:74771853:AAAAAAAAAAAA… NC_000005.10:74771853:AAAAAAAAAAAAAAAA:A	(self)
ss4106680099	NC_000005.10:74771853:AAAAAAAAAAAA… NC_000005.10:74771853:AAAAAAAAAAAAAAA:	NC_000005.10:74771853:AAAAAAAAAAAA… NC_000005.10:74771853:AAAAAAAAAAAAAAAA:A	(self)
ss4106680098	NC_000005.10:74771853:AAAAAAAAAA:	NC_000005.10:74771853:AAAAAAAAAAAA… NC_000005.10:74771853:AAAAAAAAAAAAAAAA:AAAAAA	(self)
8242582278	NC_000005.10:74771853:AAAAAAAAAAAA… NC_000005.10:74771853:AAAAAAAAAAAAAAAA:AAAAAA	NC_000005.10:74771853:AAAAAAAAAAAA… NC_000005.10:74771853:AAAAAAAAAAAAAAAA:AAAAAA	(self)
ss4106680097	NC_000005.10:74771853:AAAAAAAAA:	NC_000005.10:74771853:AAAAAAAAAAAA… NC_000005.10:74771853:AAAAAAAAAAAAAAAA:AAAAAAA	(self)
8242582278	NC_000005.10:74771853:AAAAAAAAAAAA… NC_000005.10:74771853:AAAAAAAAAAAAAAAA:AAAAAAA	NC_000005.10:74771853:AAAAAAAAAAAA… NC_000005.10:74771853:AAAAAAAAAAAAAAAA:AAAAAAA	(self)
ss4106680096	NC_000005.10:74771853:AAAAAAAA:	NC_000005.10:74771853:AAAAAAAAAAAA… NC_000005.10:74771853:AAAAAAAAAAAAAAAA:AAAAAAAA	(self)
8242582278	NC_000005.10:74771853:AAAAAAAAAAAA… NC_000005.10:74771853:AAAAAAAAAAAAAAAA:AAAAAAAA	NC_000005.10:74771853:AAAAAAAAAAAA… NC_000005.10:74771853:AAAAAAAAAAAAAAAA:AAAAAAAA	(self)
501718311, ss4106680095, ss4664340754	NC_000005.10:74771853:AAAAAAA:	NC_000005.10:74771853:AAAAAAAAAAAA… NC_000005.10:74771853:AAAAAAAAAAAAAAAA:AAAAAAAAA	(self)
8242582278	NC_000005.10:74771853:AAAAAAAAAAAA… NC_000005.10:74771853:AAAAAAAAAAAAAAAA:AAAAAAAAA	NC_000005.10:74771853:AAAAAAAAAAAA… NC_000005.10:74771853:AAAAAAAAAAAAAAAA:AAAAAAAAA	(self)
ss3714924681	NC_000005.10:74771853:AAAAAA:	NC_000005.10:74771853:AAAAAAAAAAAA… NC_000005.10:74771853:AAAAAAAAAAAAAAAA:AAAAAAAAAA	(self)
8242582278	NC_000005.10:74771853:AAAAAAAAAAAA… NC_000005.10:74771853:AAAAAAAAAAAAAAAA:AAAAAAAAAA	NC_000005.10:74771853:AAAAAAAAAAAA… NC_000005.10:74771853:AAAAAAAAAAAAAAAA:AAAAAAAAAA	(self)
ss3714924680	NC_000005.10:74771855:AAAA:	NC_000005.10:74771853:AAAAAAAAAAAA… NC_000005.10:74771853:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss4106680094	NC_000005.10:74771853:AAA:	NC_000005.10:74771853:AAAAAAAAAAAA… NC_000005.10:74771853:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
8242582278	NC_000005.10:74771853:AAAAAAAAAAAA… NC_000005.10:74771853:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000005.10:74771853:AAAAAAAAAAAA… NC_000005.10:74771853:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss3714924679	NC_000005.10:74771856:AAA:	NC_000005.10:74771853:AAAAAAAAAAAA… NC_000005.10:74771853:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
1003550, ss666314580, ss1576537183, ss3732463478, ss5172322231	NC_000005.9:74067678:AA:	NC_000005.10:74771853:AAAAAAAAAAAA… NC_000005.10:74771853:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss1710214547, ss1710214548	NC_000005.9:74067691:AA:	NC_000005.10:74771853:AAAAAAAAAAAA… NC_000005.10:74771853:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss4106680093, ss5264414833, ss5462544692, ss5708884156, ss5854862809	NC_000005.10:74771853:AA:	NC_000005.10:74771853:AAAAAAAAAAAA… NC_000005.10:74771853:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
8242582278	NC_000005.10:74771853:AAAAAAAAAAAA… NC_000005.10:74771853:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000005.10:74771853:AAAAAAAAAAAA… NC_000005.10:74771853:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss3714924678	NC_000005.10:74771857:AA:	NC_000005.10:74771853:AAAAAAAAAAAA… NC_000005.10:74771853:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss5172322232	NC_000005.9:74067678:A:	NC_000005.10:74771853:AAAAAAAAAAAA… NC_000005.10:74771853:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss4106680092, ss5462544691, ss5708884155	NC_000005.10:74771853:A:	NC_000005.10:74771853:AAAAAAAAAAAA… NC_000005.10:74771853:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
8242582278	NC_000005.10:74771853:AAAAAAAAAAAA… NC_000005.10:74771853:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000005.10:74771853:AAAAAAAAAAAA… NC_000005.10:74771853:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss3714924677	NC_000005.10:74771858:A:	NC_000005.10:74771853:AAAAAAAAAAAA… NC_000005.10:74771853:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss193806286	NT_034772.7:24662046:A:	NC_000005.10:74771853:AAAAAAAAAAAA… NC_000005.10:74771853:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss3829305934, ss5172322230	NC_000005.9:74067678::A	NC_000005.10:74771853:AAAAAAAAAAAA… NC_000005.10:74771853:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4106680091, ss5462544694, ss5708884154	NC_000005.10:74771853::A	NC_000005.10:74771853:AAAAAAAAAAAA… NC_000005.10:74771853:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
8242582278	NC_000005.10:74771853:AAAAAAAAAAAA… NC_000005.10:74771853:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000005.10:74771853:AAAAAAAAAAAA… NC_000005.10:74771853:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3714924676	NC_000005.10:74771859::A	NC_000005.10:74771853:AAAAAAAAAAAA… NC_000005.10:74771853:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
8242582278	NC_000005.10:74771853:AAAAAAAAAAAA… NC_000005.10:74771853:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000005.10:74771853:AAAAAAAAAAAA… NC_000005.10:74771853:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss3732463479	NC_000005.9:74067678::AAAAAAAA	NC_000005.10:74771853:AAAAAAAAAAAA… NC_000005.10:74771853:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5708884157	NC_000005.10:74771853::AAAAAAAAA	NC_000005.10:74771853:AAAAAAAAAAAA… NC_000005.10:74771853:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

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

No publications for rs11291606

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

rs11291606