Name: rs1491528478
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.

rs1491528478

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr2:213147680-213147688 (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: delAAA / delAA / delA / dupA
Variation Type: Indel Insertion and Deletion
Frequency: delAA=0.000004 (1/264690, TOPMED)
dupA=0.000007 (1/139608, GnomAD)
delAA=0.288423 (31422/108944, ExAC) (+ 3 more)
delAA=0.02381 (470/19742, ALFA)
delAA=0.0224 (41/1832, Korea1K)
delAA=0.03 (1/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: IKZF2 : 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	HTRZ	HWEP
Total	Global	19742	AAAAAAAAA=0.97619	AAAAAAA=0.02381, AAAAAAAA=0.00000, AAAAAAAAAA=0.00000	0.952386	0.047614	4
European	Sub	13074	AAAAAAAAA=0.97652	AAAAAAA=0.02348, AAAAAAAA=0.00000, AAAAAAAAAA=0.00000	0.953037	0.046963	2
African	Sub	2902	AAAAAAAAA=0.9873	AAAAAAA=0.0127, AAAAAAAA=0.0000, AAAAAAAAAA=0.0000	0.9745	0.0255	0
African Others	Sub	92	AAAAAAAAA=1.00	AAAAAAA=0.00, AAAAAAAA=0.00, AAAAAAAAAA=0.00	1.0	0.0	N/A
African American	Sub	2810	AAAAAAAAA=0.9868	AAAAAAA=0.0132, AAAAAAAA=0.0000, AAAAAAAAAA=0.0000	0.973665	0.026335	0
Asian	Sub	164	AAAAAAAAA=0.976	AAAAAAA=0.024, AAAAAAAA=0.000, AAAAAAAAAA=0.000	0.95122	0.04878	0
East Asian	Sub	110	AAAAAAAAA=0.982	AAAAAAA=0.018, AAAAAAAA=0.000, AAAAAAAAAA=0.000	0.963636	0.036364	0
Other Asian	Sub	54	AAAAAAAAA=0.96	AAAAAAA=0.04, AAAAAAAA=0.00, AAAAAAAAAA=0.00	0.925926	0.074074	0
Latin American 1	Sub	146	AAAAAAAAA=1.000	AAAAAAA=0.000, AAAAAAAA=0.000, AAAAAAAAAA=0.000	1.0	0.0	N/A
Latin American 2	Sub	610	AAAAAAAAA=1.000	AAAAAAA=0.000, AAAAAAAA=0.000, AAAAAAAAAA=0.000	1.0	0.0	N/A
South Asian	Sub	94	AAAAAAAAA=1.00	AAAAAAA=0.00, AAAAAAAA=0.00, AAAAAAAAAA=0.00	1.0	0.0	N/A
Other	Sub	2752	AAAAAAAAA=0.9557	AAAAAAA=0.0443, AAAAAAAA=0.0000, AAAAAAAAAA=0.0000	0.911337	0.088663	2

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)₉=0.999996	delAA=0.000004
gnomAD - Genomes	Global	Study-wide	139608	- No frequency provided	dupA=0.000007
gnomAD - Genomes	European	Sub	75718	- No frequency provided	dupA=0.00000
gnomAD - Genomes	African	Sub	41712	- No frequency provided	dupA=0.00002
gnomAD - Genomes	American	Sub	13610	- No frequency provided	dupA=0.00000
gnomAD - Genomes	Ashkenazi Jewish	Sub	3314	- No frequency provided	dupA=0.0000
gnomAD - Genomes	East Asian	Sub	3116	- No frequency provided	dupA=0.0000
gnomAD - Genomes	Other	Sub	2138	- No frequency provided	dupA=0.0000
ExAC	Global	Study-wide	108944	(A)₉=0.711577	delAA=0.288423
ExAC	Europe	Sub	65638	(A)₉=0.70241	delAA=0.29759
ExAC	Asian	Sub	23042	(A)₉=0.74481	delAA=0.25519
ExAC	American	Sub	10068	(A)₉=0.70173	delAA=0.29827
ExAC	African	Sub	9380	(A)₉=0.7028	delAA=0.2972
ExAC	Other	Sub	816	(A)₉=0.733	delAA=0.267
Allele Frequency Aggregator	Total	Global	19742	(A)₉=0.97619	delAA=0.02381, delA=0.00000, dupA=0.00000
Allele Frequency Aggregator	European	Sub	13074	(A)₉=0.97652	delAA=0.02348, delA=0.00000, dupA=0.00000
Allele Frequency Aggregator	African	Sub	2902	(A)₉=0.9873	delAA=0.0127, delA=0.0000, dupA=0.0000
Allele Frequency Aggregator	Other	Sub	2752	(A)₉=0.9557	delAA=0.0443, delA=0.0000, dupA=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	610	(A)₉=1.000	delAA=0.000, delA=0.000, dupA=0.000
Allele Frequency Aggregator	Asian	Sub	164	(A)₉=0.976	delAA=0.024, delA=0.000, dupA=0.000
Allele Frequency Aggregator	Latin American 1	Sub	146	(A)₉=1.000	delAA=0.000, delA=0.000, dupA=0.000
Allele Frequency Aggregator	South Asian	Sub	94	(A)₉=1.00	delAA=0.00, delA=0.00, dupA=0.00
Korean Genome Project	KOREAN	Study-wide	1832	(A)₉=0.9776	delAA=0.0224
The Danish reference pan genome	Danish	Study-wide	40	(A)₉=0.97	delAA=0.03

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 2	NC_000002.12:g.213147686_213147688del
GRCh38.p14 chr 2	NC_000002.12:g.213147687_213147688del
GRCh38.p14 chr 2	NC_000002.12:g.213147688del
GRCh38.p14 chr 2	NC_000002.12:g.213147688dup
GRCh37.p13 chr 2	NC_000002.11:g.214012410_214012412del
GRCh37.p13 chr 2	NC_000002.11:g.214012411_214012412del
GRCh37.p13 chr 2	NC_000002.11:g.214012412del
GRCh37.p13 chr 2	NC_000002.11:g.214012412dup

Gene: IKZF2, IKAROS family zinc finger 2 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
IKZF2 transcript variant 2	NM_001079526.2:c.139+26_1… NM_001079526.2:c.139+26_139+28del	N/A	Intron Variant
IKZF2 transcript variant 3	NM_001371274.1:c.139+26_1… NM_001371274.1:c.139+26_139+28del	N/A	Intron Variant
IKZF2 transcript variant 4	NM_001371275.1:c.139+26_1… NM_001371275.1:c.139+26_139+28del	N/A	Intron Variant
IKZF2 transcript variant 5	NM_001371276.1:c.139+26_1… NM_001371276.1:c.139+26_139+28del	N/A	Intron Variant
IKZF2 transcript variant 6	NM_001371277.1:c.136+29_1… NM_001371277.1:c.136+29_136+31del	N/A	Intron Variant
IKZF2 transcript variant 7	NM_001387220.1:c.139+26_1… NM_001387220.1:c.139+26_139+28del	N/A	Intron Variant
IKZF2 transcript variant 1	NM_016260.3:c.139+26_139+… NM_016260.3:c.139+26_139+28del	N/A	Intron Variant
IKZF2 transcript variant X15	XM_005246386.6:c.157+26_1… XM_005246386.6:c.157+26_157+28del	N/A	Intron Variant
IKZF2 transcript variant X2	XM_011510802.4:c.160+26_1… XM_011510802.4:c.160+26_160+28del	N/A	Intron Variant
IKZF2 transcript variant X1	XM_011510803.4:c.160+26_1… XM_011510803.4:c.160+26_160+28del	N/A	Intron Variant
IKZF2 transcript variant X4	XM_011510804.4:c.160+26_1… XM_011510804.4:c.160+26_160+28del	N/A	Intron Variant
IKZF2 transcript variant X3	XM_011510805.4:c.160+26_1… XM_011510805.4:c.160+26_160+28del	N/A	Intron Variant
IKZF2 transcript variant X10	XM_011510807.4:c.142+26_1… XM_011510807.4:c.142+26_142+28del	N/A	Intron Variant
IKZF2 transcript variant X9	XM_011510808.4:c.142+26_1… XM_011510808.4:c.142+26_142+28del	N/A	Intron Variant
IKZF2 transcript variant X12	XM_011510809.4:c.142+26_1… XM_011510809.4:c.142+26_142+28del	N/A	Intron Variant
IKZF2 transcript variant X11	XM_011510810.4:c.142+26_1… XM_011510810.4:c.142+26_142+28del	N/A	Intron Variant
IKZF2 transcript variant X8	XM_011510811.4:c.142+26_1… XM_011510811.4:c.142+26_142+28del	N/A	Intron Variant
IKZF2 transcript variant X13	XM_011510812.4:c.142+26_1… XM_011510812.4:c.142+26_142+28del	N/A	Intron Variant
IKZF2 transcript variant X14	XM_011510815.4:c.160+26_1… XM_011510815.4:c.160+26_160+28del	N/A	Intron Variant
IKZF2 transcript variant X17	XM_011510817.4:c.160+26_1… XM_011510817.4:c.160+26_160+28del	N/A	Intron Variant
IKZF2 transcript variant X22	XM_011510819.4:c.157+26_1… XM_011510819.4:c.157+26_157+28del	N/A	Intron Variant
IKZF2 transcript variant X5	XM_047443721.1:c.157+26_1… XM_047443721.1:c.157+26_157+28del	N/A	Intron Variant
IKZF2 transcript variant X6	XM_047443722.1:c.157+26_1… XM_047443722.1:c.157+26_157+28del	N/A	Intron Variant
IKZF2 transcript variant X7	XM_047443723.1:c.157+26_1… XM_047443723.1:c.157+26_157+28del	N/A	Intron Variant
IKZF2 transcript variant X18	XM_047443724.1:c.157+26_1… XM_047443724.1:c.157+26_157+28del	N/A	Intron Variant
IKZF2 transcript variant X19	XM_047443725.1:c.139+26_1… XM_047443725.1:c.139+26_139+28del	N/A	Intron Variant
IKZF2 transcript variant X23	XM_047443727.1:c.139+26_1… XM_047443727.1:c.139+26_139+28del	N/A	Intron Variant
IKZF2 transcript variant X16	XM_011510816.4:c.-151_-14… XM_011510816.4:c.-151_-143=	N/A	5 Prime UTR Variant
IKZF2 transcript variant X20	XM_047443726.1:c.-151_-14… XM_047443726.1:c.-151_-143=	N/A	5 Prime UTR Variant
IKZF2 transcript variant X21	XM_011510818.4:c.-49832_-… XM_011510818.4:c.-49832_-49824=	N/A	5 Prime UTR 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)₉=	delAAA	delAA	delA	dupA
GRCh38.p14 chr 2	NC_000002.12:g.213147680_213147688=	NC_000002.12:g.213147686_213147688del	NC_000002.12:g.213147687_213147688del	NC_000002.12:g.213147688del	NC_000002.12:g.213147688dup
GRCh37.p13 chr 2	NC_000002.11:g.214012404_214012412=	NC_000002.11:g.214012410_214012412del	NC_000002.11:g.214012411_214012412del	NC_000002.11:g.214012412del	NC_000002.11:g.214012412dup
IKZF2 transcript variant X21	XM_011510818.4:c.-49832_-49824=	XM_011510818.4:c.-49826_-49824del	XM_011510818.4:c.-49825_-49824del	XM_011510818.4:c.-49824del	XM_011510818.4:c.-49824dup
IKZF2 transcript variant X16	XM_011510816.4:c.-151_-143=	XM_011510816.4:c.-145_-143del	XM_011510816.4:c.-144_-143del	XM_011510816.4:c.-143del	XM_011510816.4:c.-143dup
IKZF2 transcript variant X16	XM_011510816.3:c.-151_-143=	XM_011510816.3:c.-145_-143del	XM_011510816.3:c.-144_-143del	XM_011510816.3:c.-143del	XM_011510816.3:c.-143dup
IKZF2 transcript variant X16	XM_011510816.2:c.-151_-143=	XM_011510816.2:c.-145_-143del	XM_011510816.2:c.-144_-143del	XM_011510816.2:c.-143del	XM_011510816.2:c.-143dup
IKZF2 transcript variant X20	XM_047443726.1:c.-151_-143=	XM_047443726.1:c.-145_-143del	XM_047443726.1:c.-144_-143del	XM_047443726.1:c.-143del	XM_047443726.1:c.-143dup
IKZF2 transcript variant 2	NM_001079526.1:c.139+28=	NM_001079526.1:c.139+26_139+28del	NM_001079526.1:c.139+27_139+28del	NM_001079526.1:c.139+28del	NM_001079526.1:c.139+28dup
IKZF2 transcript variant 2	NM_001079526.2:c.139+28=	NM_001079526.2:c.139+26_139+28del	NM_001079526.2:c.139+27_139+28del	NM_001079526.2:c.139+28del	NM_001079526.2:c.139+28dup
IKZF2 transcript variant 3	NM_001371274.1:c.139+28=	NM_001371274.1:c.139+26_139+28del	NM_001371274.1:c.139+27_139+28del	NM_001371274.1:c.139+28del	NM_001371274.1:c.139+28dup
IKZF2 transcript variant 4	NM_001371275.1:c.139+28=	NM_001371275.1:c.139+26_139+28del	NM_001371275.1:c.139+27_139+28del	NM_001371275.1:c.139+28del	NM_001371275.1:c.139+28dup
IKZF2 transcript variant 5	NM_001371276.1:c.139+28=	NM_001371276.1:c.139+26_139+28del	NM_001371276.1:c.139+27_139+28del	NM_001371276.1:c.139+28del	NM_001371276.1:c.139+28dup
IKZF2 transcript variant 6	NM_001371277.1:c.136+31=	NM_001371277.1:c.136+29_136+31del	NM_001371277.1:c.136+30_136+31del	NM_001371277.1:c.136+31del	NM_001371277.1:c.136+31dup
IKZF2 transcript variant 7	NM_001387220.1:c.139+28=	NM_001387220.1:c.139+26_139+28del	NM_001387220.1:c.139+27_139+28del	NM_001387220.1:c.139+28del	NM_001387220.1:c.139+28dup
IKZF2 transcript variant 1	NM_016260.2:c.139+28=	NM_016260.2:c.139+26_139+28del	NM_016260.2:c.139+27_139+28del	NM_016260.2:c.139+28del	NM_016260.2:c.139+28dup
IKZF2 transcript variant 1	NM_016260.3:c.139+28=	NM_016260.3:c.139+26_139+28del	NM_016260.3:c.139+27_139+28del	NM_016260.3:c.139+28del	NM_016260.3:c.139+28dup
IKZF2 transcript variant X1	XM_005246383.1:c.157+28=	XM_005246383.1:c.157+26_157+28del	XM_005246383.1:c.157+27_157+28del	XM_005246383.1:c.157+28del	XM_005246383.1:c.157+28dup
IKZF2 transcript variant X2	XM_005246384.1:c.139+28=	XM_005246384.1:c.139+26_139+28del	XM_005246384.1:c.139+27_139+28del	XM_005246384.1:c.139+28del	XM_005246384.1:c.139+28dup
IKZF2 transcript variant X3	XM_005246385.1:c.139+28=	XM_005246385.1:c.139+26_139+28del	XM_005246385.1:c.139+27_139+28del	XM_005246385.1:c.139+28del	XM_005246385.1:c.139+28dup
IKZF2 transcript variant X4	XM_005246386.1:c.157+28=	XM_005246386.1:c.157+26_157+28del	XM_005246386.1:c.157+27_157+28del	XM_005246386.1:c.157+28del	XM_005246386.1:c.157+28dup
IKZF2 transcript variant X15	XM_005246386.6:c.157+28=	XM_005246386.6:c.157+26_157+28del	XM_005246386.6:c.157+27_157+28del	XM_005246386.6:c.157+28del	XM_005246386.6:c.157+28dup
IKZF2 transcript variant X5	XM_005246387.1:c.139+28=	XM_005246387.1:c.139+26_139+28del	XM_005246387.1:c.139+27_139+28del	XM_005246387.1:c.139+28del	XM_005246387.1:c.139+28dup
IKZF2 transcript variant X2	XM_011510802.4:c.160+28=	XM_011510802.4:c.160+26_160+28del	XM_011510802.4:c.160+27_160+28del	XM_011510802.4:c.160+28del	XM_011510802.4:c.160+28dup
IKZF2 transcript variant X1	XM_011510803.4:c.160+28=	XM_011510803.4:c.160+26_160+28del	XM_011510803.4:c.160+27_160+28del	XM_011510803.4:c.160+28del	XM_011510803.4:c.160+28dup
IKZF2 transcript variant X4	XM_011510804.4:c.160+28=	XM_011510804.4:c.160+26_160+28del	XM_011510804.4:c.160+27_160+28del	XM_011510804.4:c.160+28del	XM_011510804.4:c.160+28dup
IKZF2 transcript variant X3	XM_011510805.4:c.160+28=	XM_011510805.4:c.160+26_160+28del	XM_011510805.4:c.160+27_160+28del	XM_011510805.4:c.160+28del	XM_011510805.4:c.160+28dup
IKZF2 transcript variant X10	XM_011510807.4:c.142+28=	XM_011510807.4:c.142+26_142+28del	XM_011510807.4:c.142+27_142+28del	XM_011510807.4:c.142+28del	XM_011510807.4:c.142+28dup
IKZF2 transcript variant X9	XM_011510808.4:c.142+28=	XM_011510808.4:c.142+26_142+28del	XM_011510808.4:c.142+27_142+28del	XM_011510808.4:c.142+28del	XM_011510808.4:c.142+28dup
IKZF2 transcript variant X12	XM_011510809.4:c.142+28=	XM_011510809.4:c.142+26_142+28del	XM_011510809.4:c.142+27_142+28del	XM_011510809.4:c.142+28del	XM_011510809.4:c.142+28dup
IKZF2 transcript variant X11	XM_011510810.4:c.142+28=	XM_011510810.4:c.142+26_142+28del	XM_011510810.4:c.142+27_142+28del	XM_011510810.4:c.142+28del	XM_011510810.4:c.142+28dup
IKZF2 transcript variant X8	XM_011510811.4:c.142+28=	XM_011510811.4:c.142+26_142+28del	XM_011510811.4:c.142+27_142+28del	XM_011510811.4:c.142+28del	XM_011510811.4:c.142+28dup
IKZF2 transcript variant X13	XM_011510812.4:c.142+28=	XM_011510812.4:c.142+26_142+28del	XM_011510812.4:c.142+27_142+28del	XM_011510812.4:c.142+28del	XM_011510812.4:c.142+28dup
IKZF2 transcript variant X14	XM_011510815.4:c.160+28=	XM_011510815.4:c.160+26_160+28del	XM_011510815.4:c.160+27_160+28del	XM_011510815.4:c.160+28del	XM_011510815.4:c.160+28dup
IKZF2 transcript variant X17	XM_011510817.4:c.160+28=	XM_011510817.4:c.160+26_160+28del	XM_011510817.4:c.160+27_160+28del	XM_011510817.4:c.160+28del	XM_011510817.4:c.160+28dup
IKZF2 transcript variant X22	XM_011510819.4:c.157+28=	XM_011510819.4:c.157+26_157+28del	XM_011510819.4:c.157+27_157+28del	XM_011510819.4:c.157+28del	XM_011510819.4:c.157+28dup
IKZF2 transcript variant X5	XM_047443721.1:c.157+28=	XM_047443721.1:c.157+26_157+28del	XM_047443721.1:c.157+27_157+28del	XM_047443721.1:c.157+28del	XM_047443721.1:c.157+28dup
IKZF2 transcript variant X6	XM_047443722.1:c.157+28=	XM_047443722.1:c.157+26_157+28del	XM_047443722.1:c.157+27_157+28del	XM_047443722.1:c.157+28del	XM_047443722.1:c.157+28dup
IKZF2 transcript variant X7	XM_047443723.1:c.157+28=	XM_047443723.1:c.157+26_157+28del	XM_047443723.1:c.157+27_157+28del	XM_047443723.1:c.157+28del	XM_047443723.1:c.157+28dup
IKZF2 transcript variant X18	XM_047443724.1:c.157+28=	XM_047443724.1:c.157+26_157+28del	XM_047443724.1:c.157+27_157+28del	XM_047443724.1:c.157+28del	XM_047443724.1:c.157+28dup
IKZF2 transcript variant X19	XM_047443725.1:c.139+28=	XM_047443725.1:c.139+26_139+28del	XM_047443725.1:c.139+27_139+28del	XM_047443725.1:c.139+28del	XM_047443725.1:c.139+28dup
IKZF2 transcript variant X23	XM_047443727.1:c.139+28=	XM_047443727.1:c.139+26_139+28del	XM_047443727.1:c.139+27_139+28del	XM_047443727.1:c.139+28del	XM_047443727.1:c.139+28dup

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, 6 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	WARNICH_LAB	ss678290968	Jan 10, 2018 (151)
2	EVA_GENOME_DK	ss1575615176	Jan 10, 2018 (151)
3	EVA_EXAC	ss1711703773	Jan 10, 2018 (151)
4	KOGIC	ss3950034900	Apr 25, 2020 (154)
5	FSA-LAB	ss3984201140	Apr 27, 2021 (155)
6	FSA-LAB	ss3984201141	Apr 27, 2021 (155)
7	EVA	ss3986213301	Apr 27, 2021 (155)
8	GNOMAD	ss4060650864	Apr 27, 2021 (155)
9	TOPMED	ss4543777970	Apr 27, 2021 (155)
10	EVA	ss5141897256	Apr 27, 2021 (155)
11	EVA	ss5236977765	Apr 27, 2021 (155)
12	GENOMICARE	ss5240839645	Oct 13, 2022 (156)
13	GENOMICARE	ss5240839646	Oct 13, 2022 (156)
14	GENOMICARE	ss5240839647	Oct 13, 2022 (156)
15	GENOMICARE	ss5240839648	Oct 13, 2022 (156)
16	EVA	ss5316105990	Oct 13, 2022 (156)
17	EVA	ss5316107452	Oct 13, 2022 (156)
18	YY_MCH	ss5803200019	Oct 13, 2022 (156)
19	EVA	ss5852940957	Oct 13, 2022 (156)
20	EVA	ss5981210731	Oct 13, 2022 (156)
21	ExAC	NC_000002.11 - 214012404	Oct 11, 2018 (152)
22	The Danish reference pan genome	NC_000002.11 - 214012404	Apr 25, 2020 (154)
23	gnomAD - Genomes	NC_000002.12 - 213147680	Apr 27, 2021 (155)
24	Korean Genome Project	NC_000002.12 - 213147680	Apr 25, 2020 (154)
25	TopMed	NC_000002.12 - 213147680	Apr 27, 2021 (155)
26	ALFA	NC_000002.12 - 213147680	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
ss3984201140, ss3984201141	NC_000002.11:214012403:AAA:	NC_000002.12:213147679:AAAAAAAAA:A… NC_000002.12:213147679:AAAAAAAAA:AAAAAA	(self)
6617687, 731361, ss678290968, ss1575615176, ss1711703773, ss3986213301, ss5240839645, ss5240839646, ss5240839647, ss5240839648, ss5316105990, ss5316107452, ss5981210731	NC_000002.11:214012403:AA:	NC_000002.12:213147679:AAAAAAAAA:A… NC_000002.12:213147679:AAAAAAAAA:AAAAAAA	(self)
6412901, 347600849, ss3950034900, ss4543777970, ss5141897256, ss5236977765, ss5803200019, ss5852940957	NC_000002.12:213147679:AA:	NC_000002.12:213147679:AAAAAAAAA:A… NC_000002.12:213147679:AAAAAAAAA:AAAAAAA	(self)
7268321214	NC_000002.12:213147679:AAAAAAAAA:A… NC_000002.12:213147679:AAAAAAAAA:AAAAAAA	NC_000002.12:213147679:AAAAAAAAA:A… NC_000002.12:213147679:AAAAAAAAA:AAAAAAA	(self)
7268321214	NC_000002.12:213147679:AAAAAAAAA:A… NC_000002.12:213147679:AAAAAAAAA:AAAAAAAA	NC_000002.12:213147679:AAAAAAAAA:A… NC_000002.12:213147679:AAAAAAAAA:AAAAAAAA	(self)
90201184, ss4060650864	NC_000002.12:213147679::A	NC_000002.12:213147679:AAAAAAAAA:A… NC_000002.12:213147679:AAAAAAAAA:AAAAAAAAAA	(self)
7268321214	NC_000002.12:213147679:AAAAAAAAA:A… NC_000002.12:213147679:AAAAAAAAA:AAAAAAAAAA	NC_000002.12:213147679:AAAAAAAAA:A… NC_000002.12:213147679:AAAAAAAAA:AAAAAAAAAA	(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 rs1491528478

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

rs1491528478