Name: rs1224930652
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.

rs1224930652

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr8:42274787-42274801 (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(C)₉ / del(C)₈ / del(C)₇ / del(…
del(C)₉ / del(C)₈ / del(C)₇ / del(C)₆ / del(C)₅ / del(C)₄ / delCCC / delCC / delC / dupC / dupCC / dupCCC / dup(C)₄ / ins(C)₁₉ / ins(C)₂₇
Variation Type: Indel Insertion and Deletion
Frequency: del(C)₉=0.00000 (0/12758, ALFA)
del(C)₈=0.00000 (0/12758, ALFA)
del(C)₇=0.00000 (0/12758, ALFA) (+ 10 more)
del(C)₆=0.00000 (0/12758, ALFA)
del(C)₅=0.00000 (0/12758, ALFA)
del(C)₄=0.00000 (0/12758, ALFA)
delCC=0.00000 (0/12758, ALFA)
delC=0.00000 (0/12758, ALFA)
dupC=0.00000 (0/12758, ALFA)
dupCC=0.00000 (0/12758, ALFA)
dupCCC=0.00000 (0/12758, ALFA)
dup(C)₄=0.00000 (0/12758, ALFA)
delC=0.035 (8/230, NorthernSweden)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: IKBKB : 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	12758	CCCCCCCCCCCCCCC=1.00000	CCCCCC=0.00000, CCCCCCC=0.00000, CCCCCCCC=0.00000, CCCCCCCCC=0.00000, CCCCCCCCCC=0.00000, CCCCCCCCCCC=0.00000, CCCCCCCCCCCCC=0.00000, CCCCCCCCCCCCCC=0.00000, CCCCCCCCCCCCCCCC=0.00000, CCCCCCCCCCCCCCCCC=0.00000, CCCCCCCCCCCCCCCCCC=0.00000, CCCCCCCCCCCCCCCCCCC=0.00000	1.0	N/A
European	Sub	8672	CCCCCCCCCCCCCCC=1.0000	CCCCCC=0.0000, CCCCCCC=0.0000, CCCCCCCC=0.0000, CCCCCCCCC=0.0000, CCCCCCCCCC=0.0000, CCCCCCCCCCC=0.0000, CCCCCCCCCCCCC=0.0000, CCCCCCCCCCCCCC=0.0000, CCCCCCCCCCCCCCCC=0.0000, CCCCCCCCCCCCCCCCC=0.0000, CCCCCCCCCCCCCCCCCC=0.0000, CCCCCCCCCCCCCCCCCCC=0.0000	1.0	N/A
African	Sub	2822	CCCCCCCCCCCCCCC=1.0000	CCCCCC=0.0000, CCCCCCC=0.0000, CCCCCCCC=0.0000, CCCCCCCCC=0.0000, CCCCCCCCCC=0.0000, CCCCCCCCCCC=0.0000, CCCCCCCCCCCCC=0.0000, CCCCCCCCCCCCCC=0.0000, CCCCCCCCCCCCCCCC=0.0000, CCCCCCCCCCCCCCCCC=0.0000, CCCCCCCCCCCCCCCCCC=0.0000, CCCCCCCCCCCCCCCCCCC=0.0000	1.0	N/A
African Others	Sub	112	CCCCCCCCCCCCCCC=1.000	CCCCCC=0.000, CCCCCCC=0.000, CCCCCCCC=0.000, CCCCCCCCC=0.000, CCCCCCCCCC=0.000, CCCCCCCCCCC=0.000, CCCCCCCCCCCCC=0.000, CCCCCCCCCCCCCC=0.000, CCCCCCCCCCCCCCCC=0.000, CCCCCCCCCCCCCCCCC=0.000, CCCCCCCCCCCCCCCCCC=0.000, CCCCCCCCCCCCCCCCCCC=0.000	1.0	N/A
African American	Sub	2710	CCCCCCCCCCCCCCC=1.0000	CCCCCC=0.0000, CCCCCCC=0.0000, CCCCCCCC=0.0000, CCCCCCCCC=0.0000, CCCCCCCCCC=0.0000, CCCCCCCCCCC=0.0000, CCCCCCCCCCCCC=0.0000, CCCCCCCCCCCCCC=0.0000, CCCCCCCCCCCCCCCC=0.0000, CCCCCCCCCCCCCCCCC=0.0000, CCCCCCCCCCCCCCCCCC=0.0000, CCCCCCCCCCCCCCCCCCC=0.0000	1.0	N/A
Asian	Sub	92	CCCCCCCCCCCCCCC=1.00	CCCCCC=0.00, CCCCCCC=0.00, CCCCCCCC=0.00, CCCCCCCCC=0.00, CCCCCCCCCC=0.00, CCCCCCCCCCC=0.00, CCCCCCCCCCCCC=0.00, CCCCCCCCCCCCCC=0.00, CCCCCCCCCCCCCCCC=0.00, CCCCCCCCCCCCCCCCC=0.00, CCCCCCCCCCCCCCCCCC=0.00, CCCCCCCCCCCCCCCCCCC=0.00	1.0	N/A
East Asian	Sub	70	CCCCCCCCCCCCCCC=1.00	CCCCCC=0.00, CCCCCCC=0.00, CCCCCCCC=0.00, CCCCCCCCC=0.00, CCCCCCCCCC=0.00, CCCCCCCCCCC=0.00, CCCCCCCCCCCCC=0.00, CCCCCCCCCCCCCC=0.00, CCCCCCCCCCCCCCCC=0.00, CCCCCCCCCCCCCCCCC=0.00, CCCCCCCCCCCCCCCCCC=0.00, CCCCCCCCCCCCCCCCCCC=0.00	1.0	N/A
Other Asian	Sub	22	CCCCCCCCCCCCCCC=1.00	CCCCCC=0.00, CCCCCCC=0.00, CCCCCCCC=0.00, CCCCCCCCC=0.00, CCCCCCCCCC=0.00, CCCCCCCCCCC=0.00, CCCCCCCCCCCCC=0.00, CCCCCCCCCCCCCC=0.00, CCCCCCCCCCCCCCCC=0.00, CCCCCCCCCCCCCCCCC=0.00, CCCCCCCCCCCCCCCCCC=0.00, CCCCCCCCCCCCCCCCCCC=0.00	1.0	N/A
Latin American 1	Sub	140	CCCCCCCCCCCCCCC=1.000	CCCCCC=0.000, CCCCCCC=0.000, CCCCCCCC=0.000, CCCCCCCCC=0.000, CCCCCCCCCC=0.000, CCCCCCCCCCC=0.000, CCCCCCCCCCCCC=0.000, CCCCCCCCCCCCCC=0.000, CCCCCCCCCCCCCCCC=0.000, CCCCCCCCCCCCCCCCC=0.000, CCCCCCCCCCCCCCCCCC=0.000, CCCCCCCCCCCCCCCCCCC=0.000	1.0	N/A
Latin American 2	Sub	498	CCCCCCCCCCCCCCC=1.000	CCCCCC=0.000, CCCCCCC=0.000, CCCCCCCC=0.000, CCCCCCCCC=0.000, CCCCCCCCCC=0.000, CCCCCCCCCCC=0.000, CCCCCCCCCCCCC=0.000, CCCCCCCCCCCCCC=0.000, CCCCCCCCCCCCCCCC=0.000, CCCCCCCCCCCCCCCCC=0.000, CCCCCCCCCCCCCCCCCC=0.000, CCCCCCCCCCCCCCCCCCC=0.000	1.0	N/A
South Asian	Sub	86	CCCCCCCCCCCCCCC=1.00	CCCCCC=0.00, CCCCCCC=0.00, CCCCCCCC=0.00, CCCCCCCCC=0.00, CCCCCCCCCC=0.00, CCCCCCCCCCC=0.00, CCCCCCCCCCCCC=0.00, CCCCCCCCCCCCCC=0.00, CCCCCCCCCCCCCCCC=0.00, CCCCCCCCCCCCCCCCC=0.00, CCCCCCCCCCCCCCCCCC=0.00, CCCCCCCCCCCCCCCCCCC=0.00	1.0	N/A
Other	Sub	448	CCCCCCCCCCCCCCC=1.000	CCCCCC=0.000, CCCCCCC=0.000, CCCCCCCC=0.000, CCCCCCCCC=0.000, CCCCCCCCCC=0.000, CCCCCCCCCCC=0.000, CCCCCCCCCCCCC=0.000, CCCCCCCCCCCCCC=0.000, CCCCCCCCCCCCCCCC=0.000, CCCCCCCCCCCCCCCCC=0.000, CCCCCCCCCCCCCCCCCC=0.000, CCCCCCCCCCCCCCCCCCC=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
Allele Frequency Aggregator	Total	Global	12758	(C)₁₅=1.00000	del(C)₉=0.00000, del(C)₈=0.00000, del(C)₇=0.00000, del(C)₆=0.00000, del(C)₅=0.00000, del(C)₄=0.00000, delCC=0.00000, delC=0.00000, dupC=0.00000, dupCC=0.00000, dupCCC=0.00000, dup(C)₄=0.00000
Allele Frequency Aggregator	European	Sub	8672	(C)₁₅=1.0000	del(C)₉=0.0000, del(C)₈=0.0000, del(C)₇=0.0000, del(C)₆=0.0000, del(C)₅=0.0000, del(C)₄=0.0000, delCC=0.0000, delC=0.0000, dupC=0.0000, dupCC=0.0000, dupCCC=0.0000, dup(C)₄=0.0000
Allele Frequency Aggregator	African	Sub	2822	(C)₁₅=1.0000	del(C)₉=0.0000, del(C)₈=0.0000, del(C)₇=0.0000, del(C)₆=0.0000, del(C)₅=0.0000, del(C)₄=0.0000, delCC=0.0000, delC=0.0000, dupC=0.0000, dupCC=0.0000, dupCCC=0.0000, dup(C)₄=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	498	(C)₁₅=1.000	del(C)₉=0.000, del(C)₈=0.000, del(C)₇=0.000, del(C)₆=0.000, del(C)₅=0.000, del(C)₄=0.000, delCC=0.000, delC=0.000, dupC=0.000, dupCC=0.000, dupCCC=0.000, dup(C)₄=0.000
Allele Frequency Aggregator	Other	Sub	448	(C)₁₅=1.000	del(C)₉=0.000, del(C)₈=0.000, del(C)₇=0.000, del(C)₆=0.000, del(C)₅=0.000, del(C)₄=0.000, delCC=0.000, delC=0.000, dupC=0.000, dupCC=0.000, dupCCC=0.000, dup(C)₄=0.000
Allele Frequency Aggregator	Latin American 1	Sub	140	(C)₁₅=1.000	del(C)₉=0.000, del(C)₈=0.000, del(C)₇=0.000, del(C)₆=0.000, del(C)₅=0.000, del(C)₄=0.000, delCC=0.000, delC=0.000, dupC=0.000, dupCC=0.000, dupCCC=0.000, dup(C)₄=0.000
Allele Frequency Aggregator	Asian	Sub	92	(C)₁₅=1.00	del(C)₉=0.00, del(C)₈=0.00, del(C)₇=0.00, del(C)₆=0.00, del(C)₅=0.00, del(C)₄=0.00, delCC=0.00, delC=0.00, dupC=0.00, dupCC=0.00, dupCCC=0.00, dup(C)₄=0.00
Allele Frequency Aggregator	South Asian	Sub	86	(C)₁₅=1.00	del(C)₉=0.00, del(C)₈=0.00, del(C)₇=0.00, del(C)₆=0.00, del(C)₅=0.00, del(C)₄=0.00, delCC=0.00, delC=0.00, dupC=0.00, dupCC=0.00, dupCCC=0.00, dup(C)₄=0.00
Northern Sweden	ACPOP	Study-wide	230	(C)₁₅=0.965	delC=0.035

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 8	NC_000008.11:g.42274793_42274801del
GRCh38.p14 chr 8	NC_000008.11:g.42274794_42274801del
GRCh38.p14 chr 8	NC_000008.11:g.42274795_42274801del
GRCh38.p14 chr 8	NC_000008.11:g.42274796_42274801del
GRCh38.p14 chr 8	NC_000008.11:g.42274797_42274801del
GRCh38.p14 chr 8	NC_000008.11:g.42274798_42274801del
GRCh38.p14 chr 8	NC_000008.11:g.42274799_42274801del
GRCh38.p14 chr 8	NC_000008.11:g.42274800_42274801del
GRCh38.p14 chr 8	NC_000008.11:g.42274801del
GRCh38.p14 chr 8	NC_000008.11:g.42274801dup
GRCh38.p14 chr 8	NC_000008.11:g.42274800_42274801dup
GRCh38.p14 chr 8	NC_000008.11:g.42274799_42274801dup
GRCh38.p14 chr 8	NC_000008.11:g.42274798_42274801dup
GRCh38.p14 chr 8	NC_000008.11:g.42274801_42274802insCCCCCCCCCCCCCCCCCCC
GRCh38.p14 chr 8	NC_000008.11:g.42274801_42274802insCCCCCCCCCCCCCCCCCCCCCCCCCCC
GRCh37.p13 chr 8	NC_000008.10:g.42132311_42132319del
GRCh37.p13 chr 8	NC_000008.10:g.42132312_42132319del
GRCh37.p13 chr 8	NC_000008.10:g.42132313_42132319del
GRCh37.p13 chr 8	NC_000008.10:g.42132314_42132319del
GRCh37.p13 chr 8	NC_000008.10:g.42132315_42132319del
GRCh37.p13 chr 8	NC_000008.10:g.42132316_42132319del
GRCh37.p13 chr 8	NC_000008.10:g.42132317_42132319del
GRCh37.p13 chr 8	NC_000008.10:g.42132318_42132319del
GRCh37.p13 chr 8	NC_000008.10:g.42132319del
GRCh37.p13 chr 8	NC_000008.10:g.42132319dup
GRCh37.p13 chr 8	NC_000008.10:g.42132318_42132319dup
GRCh37.p13 chr 8	NC_000008.10:g.42132317_42132319dup
GRCh37.p13 chr 8	NC_000008.10:g.42132316_42132319dup
GRCh37.p13 chr 8	NC_000008.10:g.42132319_42132320insCCCCCCCCCCCCCCCCCCC
GRCh37.p13 chr 8	NC_000008.10:g.42132319_42132320insCCCCCCCCCCCCCCCCCCCCCCCCCCC
IKBKB RefSeqGene (LRG_1241)	NG_041793.1:g.8492_8500del
IKBKB RefSeqGene (LRG_1241)	NG_041793.1:g.8493_8500del
IKBKB RefSeqGene (LRG_1241)	NG_041793.1:g.8494_8500del
IKBKB RefSeqGene (LRG_1241)	NG_041793.1:g.8495_8500del
IKBKB RefSeqGene (LRG_1241)	NG_041793.1:g.8496_8500del
IKBKB RefSeqGene (LRG_1241)	NG_041793.1:g.8497_8500del
IKBKB RefSeqGene (LRG_1241)	NG_041793.1:g.8498_8500del
IKBKB RefSeqGene (LRG_1241)	NG_041793.1:g.8499_8500del
IKBKB RefSeqGene (LRG_1241)	NG_041793.1:g.8500del
IKBKB RefSeqGene (LRG_1241)	NG_041793.1:g.8500dup
IKBKB RefSeqGene (LRG_1241)	NG_041793.1:g.8499_8500dup
IKBKB RefSeqGene (LRG_1241)	NG_041793.1:g.8498_8500dup
IKBKB RefSeqGene (LRG_1241)	NG_041793.1:g.8497_8500dup
IKBKB RefSeqGene (LRG_1241)	NG_041793.1:g.8500_8501insCCCCCCCCCCCCCCCCCCC
IKBKB RefSeqGene (LRG_1241)	NG_041793.1:g.8500_8501insCCCCCCCCCCCCCCCCCCCCCCCCCCC

Gene: IKBKB, inhibitor of nuclear factor kappa B kinase subunit beta (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
IKBKB transcript variant 2	NM_001190720.3:c.-88+3324… NM_001190720.3:c.-88+3324_-88+3332del	N/A	Intron Variant
IKBKB transcript variant 7	NM_001242778.2:c.23+2588_… NM_001242778.2:c.23+2588_23+2596del	N/A	Intron Variant
IKBKB transcript variant 1	NM_001556.3:c.105+2588_10… NM_001556.3:c.105+2588_105+2596del	N/A	Intron Variant
IKBKB transcript variant 5	NR_033818.2:n.	N/A	Intron Variant
IKBKB transcript variant 6	NR_033819.2:n.	N/A	Intron Variant
IKBKB transcript variant 8	NR_040009.2:n.	N/A	Intron Variant
IKBKB transcript variant X1	XM_011544517.3:c.105+2588… XM_011544517.3:c.105+2588_105+2596del	N/A	Intron Variant
IKBKB transcript variant X5	XM_011544520.3:c.133+2588… XM_011544520.3:c.133+2588_133+2596del	N/A	Intron Variant
IKBKB transcript variant X2	XM_047421757.1:c.105+2588… XM_047421757.1:c.105+2588_105+2596del	N/A	Intron Variant
IKBKB transcript variant X3	XM_047421758.1:c.105+2588… XM_047421758.1:c.105+2588_105+2596del	N/A	Intron Variant
IKBKB transcript variant X4	XM_047421759.1:c.23+2588_… XM_047421759.1:c.23+2588_23+2596del	N/A	Intron Variant
IKBKB transcript variant X6	XM_047421760.1:c.105+2588… XM_047421760.1:c.105+2588_105+2596del	N/A	Intron Variant
IKBKB transcript variant X7	XM_047421761.1:c.105+2588… XM_047421761.1:c.105+2588_105+2596del	N/A	Intron Variant
IKBKB transcript variant X8	XM_047421762.1:c.133+2588… XM_047421762.1:c.133+2588_133+2596del	N/A	Intron Variant
IKBKB transcript variant X10	XM_047421764.1:c.105+2588… XM_047421764.1:c.105+2588_105+2596del	N/A	Intron Variant
IKBKB transcript variant X9	XM_047421763.1:c.	N/A	Genic Upstream Transcript 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	(C)₁₅=	del(C)₉	del(C)₈	del(C)₇	del(C)₆	del(C)₅	del(C)₄	delCCC	delCC	delC	dupC	dupCC	dupCCC	dup(C)₄	ins(C)₁₉	ins(C)₂₇
GRCh38.p14 chr 8	NC_000008.11:g.42274787_42274801=	NC_000008.11:g.42274793_42274801del	NC_000008.11:g.42274794_42274801del	NC_000008.11:g.42274795_42274801del	NC_000008.11:g.42274796_42274801del	NC_000008.11:g.42274797_42274801del	NC_000008.11:g.42274798_42274801del	NC_000008.11:g.42274799_42274801del	NC_000008.11:g.42274800_42274801del	NC_000008.11:g.42274801del	NC_000008.11:g.42274801dup	NC_000008.11:g.42274800_42274801dup	NC_000008.11:g.42274799_42274801dup	NC_000008.11:g.42274798_42274801dup	NC_000008.11:g.42274801_42274802insCCCCCCCCCCCCCCCCCCC	NC_000008.11:g.42274801_42274802insCCCCCCCCCCCCCCCCCCCCCCCCCCC
GRCh37.p13 chr 8	NC_000008.10:g.42132305_42132319=	NC_000008.10:g.42132311_42132319del	NC_000008.10:g.42132312_42132319del	NC_000008.10:g.42132313_42132319del	NC_000008.10:g.42132314_42132319del	NC_000008.10:g.42132315_42132319del	NC_000008.10:g.42132316_42132319del	NC_000008.10:g.42132317_42132319del	NC_000008.10:g.42132318_42132319del	NC_000008.10:g.42132319del	NC_000008.10:g.42132319dup	NC_000008.10:g.42132318_42132319dup	NC_000008.10:g.42132317_42132319dup	NC_000008.10:g.42132316_42132319dup	NC_000008.10:g.42132319_42132320insCCCCCCCCCCCCCCCCCCC	NC_000008.10:g.42132319_42132320insCCCCCCCCCCCCCCCCCCCCCCCCCCC
IKBKB RefSeqGene (LRG_1241)	NG_041793.1:g.8486_8500=	NG_041793.1:g.8492_8500del	NG_041793.1:g.8493_8500del	NG_041793.1:g.8494_8500del	NG_041793.1:g.8495_8500del	NG_041793.1:g.8496_8500del	NG_041793.1:g.8497_8500del	NG_041793.1:g.8498_8500del	NG_041793.1:g.8499_8500del	NG_041793.1:g.8500del	NG_041793.1:g.8500dup	NG_041793.1:g.8499_8500dup	NG_041793.1:g.8498_8500dup	NG_041793.1:g.8497_8500dup	NG_041793.1:g.8500_8501insCCCCCCCCCCCCCCCCCCC	NG_041793.1:g.8500_8501insCCCCCCCCCCCCCCCCCCCCCCCCCCC
IKBKB transcript variant 2	NM_001190720.2:c.99+3318=	NM_001190720.2:c.99+3324_99+3332del	NM_001190720.2:c.99+3325_99+3332del	NM_001190720.2:c.99+3326_99+3332del	NM_001190720.2:c.99+3327_99+3332del	NM_001190720.2:c.99+3328_99+3332del	NM_001190720.2:c.99+3329_99+3332del	NM_001190720.2:c.99+3330_99+3332del	NM_001190720.2:c.99+3331_99+3332del	NM_001190720.2:c.99+3332del	NM_001190720.2:c.99+3332dup	NM_001190720.2:c.99+3331_99+3332dup	NM_001190720.2:c.99+3330_99+3332dup	NM_001190720.2:c.99+3329_99+3332dup	NM_001190720.2:c.99+3332_99+3333insCCCCCCCCCCCCCCCCCCC	NM_001190720.2:c.99+3332_99+3333insCCCCCCCCCCCCCCCCCCCCCCCCCCC
IKBKB transcript variant 2	NM_001190720.3:c.-88+3318=	NM_001190720.3:c.-88+3324_-88+3332del	NM_001190720.3:c.-88+3325_-88+3332del	NM_001190720.3:c.-88+3326_-88+3332del	NM_001190720.3:c.-88+3327_-88+3332del	NM_001190720.3:c.-88+3328_-88+3332del	NM_001190720.3:c.-88+3329_-88+3332del	NM_001190720.3:c.-88+3330_-88+3332del	NM_001190720.3:c.-88+3331_-88+3332del	NM_001190720.3:c.-88+3332del	NM_001190720.3:c.-88+3332dup	NM_001190720.3:c.-88+3331_-88+3332dup	NM_001190720.3:c.-88+3330_-88+3332dup	NM_001190720.3:c.-88+3329_-88+3332dup	NM_001190720.3:c.-88+3332_-88+3333insCCCCCCCCCCCCCCCCCCC	NM_001190720.3:c.-88+3332_-88+3333insCCCCCCCCCCCCCCCCCCCCCCCCCCC
IKBKB transcript variant 7	NM_001242778.1:c.23+2582=	NM_001242778.1:c.23+2588_23+2596del	NM_001242778.1:c.23+2589_23+2596del	NM_001242778.1:c.23+2590_23+2596del	NM_001242778.1:c.23+2591_23+2596del	NM_001242778.1:c.23+2592_23+2596del	NM_001242778.1:c.23+2593_23+2596del	NM_001242778.1:c.23+2594_23+2596del	NM_001242778.1:c.23+2595_23+2596del	NM_001242778.1:c.23+2596del	NM_001242778.1:c.23+2596dup	NM_001242778.1:c.23+2595_23+2596dup	NM_001242778.1:c.23+2594_23+2596dup	NM_001242778.1:c.23+2593_23+2596dup	NM_001242778.1:c.23+2596_23+2597insCCCCCCCCCCCCCCCCCCC	NM_001242778.1:c.23+2596_23+2597insCCCCCCCCCCCCCCCCCCCCCCCCCCC
IKBKB transcript variant 7	NM_001242778.2:c.23+2582=	NM_001242778.2:c.23+2588_23+2596del	NM_001242778.2:c.23+2589_23+2596del	NM_001242778.2:c.23+2590_23+2596del	NM_001242778.2:c.23+2591_23+2596del	NM_001242778.2:c.23+2592_23+2596del	NM_001242778.2:c.23+2593_23+2596del	NM_001242778.2:c.23+2594_23+2596del	NM_001242778.2:c.23+2595_23+2596del	NM_001242778.2:c.23+2596del	NM_001242778.2:c.23+2596dup	NM_001242778.2:c.23+2595_23+2596dup	NM_001242778.2:c.23+2594_23+2596dup	NM_001242778.2:c.23+2593_23+2596dup	NM_001242778.2:c.23+2596_23+2597insCCCCCCCCCCCCCCCCCCC	NM_001242778.2:c.23+2596_23+2597insCCCCCCCCCCCCCCCCCCCCCCCCCCC
IKBKB transcript variant 1	NM_001556.2:c.105+2582=	NM_001556.2:c.105+2588_105+2596del	NM_001556.2:c.105+2589_105+2596del	NM_001556.2:c.105+2590_105+2596del	NM_001556.2:c.105+2591_105+2596del	NM_001556.2:c.105+2592_105+2596del	NM_001556.2:c.105+2593_105+2596del	NM_001556.2:c.105+2594_105+2596del	NM_001556.2:c.105+2595_105+2596del	NM_001556.2:c.105+2596del	NM_001556.2:c.105+2596dup	NM_001556.2:c.105+2595_105+2596dup	NM_001556.2:c.105+2594_105+2596dup	NM_001556.2:c.105+2593_105+2596dup	NM_001556.2:c.105+2596_105+2597insCCCCCCCCCCCCCCCCCCC	NM_001556.2:c.105+2596_105+2597insCCCCCCCCCCCCCCCCCCCCCCCCCCC
IKBKB transcript variant 1	NM_001556.3:c.105+2582=	NM_001556.3:c.105+2588_105+2596del	NM_001556.3:c.105+2589_105+2596del	NM_001556.3:c.105+2590_105+2596del	NM_001556.3:c.105+2591_105+2596del	NM_001556.3:c.105+2592_105+2596del	NM_001556.3:c.105+2593_105+2596del	NM_001556.3:c.105+2594_105+2596del	NM_001556.3:c.105+2595_105+2596del	NM_001556.3:c.105+2596del	NM_001556.3:c.105+2596dup	NM_001556.3:c.105+2595_105+2596dup	NM_001556.3:c.105+2594_105+2596dup	NM_001556.3:c.105+2593_105+2596dup	NM_001556.3:c.105+2596_105+2597insCCCCCCCCCCCCCCCCCCC	NM_001556.3:c.105+2596_105+2597insCCCCCCCCCCCCCCCCCCCCCCCCCCC
IKBKB transcript variant X1	XM_005273490.1:c.105+2582=	XM_005273490.1:c.105+2588_105+2596del	XM_005273490.1:c.105+2589_105+2596del	XM_005273490.1:c.105+2590_105+2596del	XM_005273490.1:c.105+2591_105+2596del	XM_005273490.1:c.105+2592_105+2596del	XM_005273490.1:c.105+2593_105+2596del	XM_005273490.1:c.105+2594_105+2596del	XM_005273490.1:c.105+2595_105+2596del	XM_005273490.1:c.105+2596del	XM_005273490.1:c.105+2596dup	XM_005273490.1:c.105+2595_105+2596dup	XM_005273490.1:c.105+2594_105+2596dup	XM_005273490.1:c.105+2593_105+2596dup	XM_005273490.1:c.105+2596_105+2597insCCCCCCCCCCCCCCCCCCC	XM_005273490.1:c.105+2596_105+2597insCCCCCCCCCCCCCCCCCCCCCCCCCCC
IKBKB transcript variant X2	XM_005273491.1:c.23+2582=	XM_005273491.1:c.23+2588_23+2596del	XM_005273491.1:c.23+2589_23+2596del	XM_005273491.1:c.23+2590_23+2596del	XM_005273491.1:c.23+2591_23+2596del	XM_005273491.1:c.23+2592_23+2596del	XM_005273491.1:c.23+2593_23+2596del	XM_005273491.1:c.23+2594_23+2596del	XM_005273491.1:c.23+2595_23+2596del	XM_005273491.1:c.23+2596del	XM_005273491.1:c.23+2596dup	XM_005273491.1:c.23+2595_23+2596dup	XM_005273491.1:c.23+2594_23+2596dup	XM_005273491.1:c.23+2593_23+2596dup	XM_005273491.1:c.23+2596_23+2597insCCCCCCCCCCCCCCCCCCC	XM_005273491.1:c.23+2596_23+2597insCCCCCCCCCCCCCCCCCCCCCCCCCCC
IKBKB transcript variant X3	XM_005273492.1:c.105+2582=	XM_005273492.1:c.105+2588_105+2596del	XM_005273492.1:c.105+2589_105+2596del	XM_005273492.1:c.105+2590_105+2596del	XM_005273492.1:c.105+2591_105+2596del	XM_005273492.1:c.105+2592_105+2596del	XM_005273492.1:c.105+2593_105+2596del	XM_005273492.1:c.105+2594_105+2596del	XM_005273492.1:c.105+2595_105+2596del	XM_005273492.1:c.105+2596del	XM_005273492.1:c.105+2596dup	XM_005273492.1:c.105+2595_105+2596dup	XM_005273492.1:c.105+2594_105+2596dup	XM_005273492.1:c.105+2593_105+2596dup	XM_005273492.1:c.105+2596_105+2597insCCCCCCCCCCCCCCCCCCC	XM_005273492.1:c.105+2596_105+2597insCCCCCCCCCCCCCCCCCCCCCCCCCCC
IKBKB transcript variant X4	XM_005273493.1:c.73+2582=	XM_005273493.1:c.73+2588_73+2596del	XM_005273493.1:c.73+2589_73+2596del	XM_005273493.1:c.73+2590_73+2596del	XM_005273493.1:c.73+2591_73+2596del	XM_005273493.1:c.73+2592_73+2596del	XM_005273493.1:c.73+2593_73+2596del	XM_005273493.1:c.73+2594_73+2596del	XM_005273493.1:c.73+2595_73+2596del	XM_005273493.1:c.73+2596del	XM_005273493.1:c.73+2596dup	XM_005273493.1:c.73+2595_73+2596dup	XM_005273493.1:c.73+2594_73+2596dup	XM_005273493.1:c.73+2593_73+2596dup	XM_005273493.1:c.73+2596_73+2597insCCCCCCCCCCCCCCCCCCC	XM_005273493.1:c.73+2596_73+2597insCCCCCCCCCCCCCCCCCCCCCCCCCCC
IKBKB transcript variant X9	XM_005273494.1:c.105+2582=	XM_005273494.1:c.105+2588_105+2596del	XM_005273494.1:c.105+2589_105+2596del	XM_005273494.1:c.105+2590_105+2596del	XM_005273494.1:c.105+2591_105+2596del	XM_005273494.1:c.105+2592_105+2596del	XM_005273494.1:c.105+2593_105+2596del	XM_005273494.1:c.105+2594_105+2596del	XM_005273494.1:c.105+2595_105+2596del	XM_005273494.1:c.105+2596del	XM_005273494.1:c.105+2596dup	XM_005273494.1:c.105+2595_105+2596dup	XM_005273494.1:c.105+2594_105+2596dup	XM_005273494.1:c.105+2593_105+2596dup	XM_005273494.1:c.105+2596_105+2597insCCCCCCCCCCCCCCCCCCC	XM_005273494.1:c.105+2596_105+2597insCCCCCCCCCCCCCCCCCCCCCCCCCCC
IKBKB transcript variant X10	XM_005273495.1:c.-401+2582=	XM_005273495.1:c.-401+2588_-401+2596del	XM_005273495.1:c.-401+2589_-401+2596del	XM_005273495.1:c.-401+2590_-401+2596del	XM_005273495.1:c.-401+2591_-401+2596del	XM_005273495.1:c.-401+2592_-401+2596del	XM_005273495.1:c.-401+2593_-401+2596del	XM_005273495.1:c.-401+2594_-401+2596del	XM_005273495.1:c.-401+2595_-401+2596del	XM_005273495.1:c.-401+2596del	XM_005273495.1:c.-401+2596dup	XM_005273495.1:c.-401+2595_-401+2596dup	XM_005273495.1:c.-401+2594_-401+2596dup	XM_005273495.1:c.-401+2593_-401+2596dup	XM_005273495.1:c.-401+2596_-401+2597insCCCCCCCCCCCCCCCCCCC	XM_005273495.1:c.-401+2596_-401+2597insCCCCCCCCCCCCCCCCCCCCCCCCCCC
IKBKB transcript variant X7	XM_005273496.1:c.-306+2582=	XM_005273496.1:c.-306+2588_-306+2596del	XM_005273496.1:c.-306+2589_-306+2596del	XM_005273496.1:c.-306+2590_-306+2596del	XM_005273496.1:c.-306+2591_-306+2596del	XM_005273496.1:c.-306+2592_-306+2596del	XM_005273496.1:c.-306+2593_-306+2596del	XM_005273496.1:c.-306+2594_-306+2596del	XM_005273496.1:c.-306+2595_-306+2596del	XM_005273496.1:c.-306+2596del	XM_005273496.1:c.-306+2596dup	XM_005273496.1:c.-306+2595_-306+2596dup	XM_005273496.1:c.-306+2594_-306+2596dup	XM_005273496.1:c.-306+2593_-306+2596dup	XM_005273496.1:c.-306+2596_-306+2597insCCCCCCCCCCCCCCCCCCC	XM_005273496.1:c.-306+2596_-306+2597insCCCCCCCCCCCCCCCCCCCCCCCCCCC
IKBKB transcript variant X8	XM_005273497.1:c.-362+2582=	XM_005273497.1:c.-362+2588_-362+2596del	XM_005273497.1:c.-362+2589_-362+2596del	XM_005273497.1:c.-362+2590_-362+2596del	XM_005273497.1:c.-362+2591_-362+2596del	XM_005273497.1:c.-362+2592_-362+2596del	XM_005273497.1:c.-362+2593_-362+2596del	XM_005273497.1:c.-362+2594_-362+2596del	XM_005273497.1:c.-362+2595_-362+2596del	XM_005273497.1:c.-362+2596del	XM_005273497.1:c.-362+2596dup	XM_005273497.1:c.-362+2595_-362+2596dup	XM_005273497.1:c.-362+2594_-362+2596dup	XM_005273497.1:c.-362+2593_-362+2596dup	XM_005273497.1:c.-362+2596_-362+2597insCCCCCCCCCCCCCCCCCCC	XM_005273497.1:c.-362+2596_-362+2597insCCCCCCCCCCCCCCCCCCCCCCCCCCC
IKBKB transcript variant X9	XM_005273498.1:c.-118+2582=	XM_005273498.1:c.-118+2588_-118+2596del	XM_005273498.1:c.-118+2589_-118+2596del	XM_005273498.1:c.-118+2590_-118+2596del	XM_005273498.1:c.-118+2591_-118+2596del	XM_005273498.1:c.-118+2592_-118+2596del	XM_005273498.1:c.-118+2593_-118+2596del	XM_005273498.1:c.-118+2594_-118+2596del	XM_005273498.1:c.-118+2595_-118+2596del	XM_005273498.1:c.-118+2596del	XM_005273498.1:c.-118+2596dup	XM_005273498.1:c.-118+2595_-118+2596dup	XM_005273498.1:c.-118+2594_-118+2596dup	XM_005273498.1:c.-118+2593_-118+2596dup	XM_005273498.1:c.-118+2596_-118+2597insCCCCCCCCCCCCCCCCCCC	XM_005273498.1:c.-118+2596_-118+2597insCCCCCCCCCCCCCCCCCCCCCCCCCCC
IKBKB transcript variant X11	XM_005273500.1:c.-789+2582=	XM_005273500.1:c.-789+2588_-789+2596del	XM_005273500.1:c.-789+2589_-789+2596del	XM_005273500.1:c.-789+2590_-789+2596del	XM_005273500.1:c.-789+2591_-789+2596del	XM_005273500.1:c.-789+2592_-789+2596del	XM_005273500.1:c.-789+2593_-789+2596del	XM_005273500.1:c.-789+2594_-789+2596del	XM_005273500.1:c.-789+2595_-789+2596del	XM_005273500.1:c.-789+2596del	XM_005273500.1:c.-789+2596dup	XM_005273500.1:c.-789+2595_-789+2596dup	XM_005273500.1:c.-789+2594_-789+2596dup	XM_005273500.1:c.-789+2593_-789+2596dup	XM_005273500.1:c.-789+2596_-789+2597insCCCCCCCCCCCCCCCCCCC	XM_005273500.1:c.-789+2596_-789+2597insCCCCCCCCCCCCCCCCCCCCCCCCCCC
IKBKB transcript variant X1	XM_011544517.3:c.105+2582=	XM_011544517.3:c.105+2588_105+2596del	XM_011544517.3:c.105+2589_105+2596del	XM_011544517.3:c.105+2590_105+2596del	XM_011544517.3:c.105+2591_105+2596del	XM_011544517.3:c.105+2592_105+2596del	XM_011544517.3:c.105+2593_105+2596del	XM_011544517.3:c.105+2594_105+2596del	XM_011544517.3:c.105+2595_105+2596del	XM_011544517.3:c.105+2596del	XM_011544517.3:c.105+2596dup	XM_011544517.3:c.105+2595_105+2596dup	XM_011544517.3:c.105+2594_105+2596dup	XM_011544517.3:c.105+2593_105+2596dup	XM_011544517.3:c.105+2596_105+2597insCCCCCCCCCCCCCCCCCCC	XM_011544517.3:c.105+2596_105+2597insCCCCCCCCCCCCCCCCCCCCCCCCCCC
IKBKB transcript variant X5	XM_011544520.3:c.133+2582=	XM_011544520.3:c.133+2588_133+2596del	XM_011544520.3:c.133+2589_133+2596del	XM_011544520.3:c.133+2590_133+2596del	XM_011544520.3:c.133+2591_133+2596del	XM_011544520.3:c.133+2592_133+2596del	XM_011544520.3:c.133+2593_133+2596del	XM_011544520.3:c.133+2594_133+2596del	XM_011544520.3:c.133+2595_133+2596del	XM_011544520.3:c.133+2596del	XM_011544520.3:c.133+2596dup	XM_011544520.3:c.133+2595_133+2596dup	XM_011544520.3:c.133+2594_133+2596dup	XM_011544520.3:c.133+2593_133+2596dup	XM_011544520.3:c.133+2596_133+2597insCCCCCCCCCCCCCCCCCCC	XM_011544520.3:c.133+2596_133+2597insCCCCCCCCCCCCCCCCCCCCCCCCCCC
IKBKB transcript variant X2	XM_047421757.1:c.105+2582=	XM_047421757.1:c.105+2588_105+2596del	XM_047421757.1:c.105+2589_105+2596del	XM_047421757.1:c.105+2590_105+2596del	XM_047421757.1:c.105+2591_105+2596del	XM_047421757.1:c.105+2592_105+2596del	XM_047421757.1:c.105+2593_105+2596del	XM_047421757.1:c.105+2594_105+2596del	XM_047421757.1:c.105+2595_105+2596del	XM_047421757.1:c.105+2596del	XM_047421757.1:c.105+2596dup	XM_047421757.1:c.105+2595_105+2596dup	XM_047421757.1:c.105+2594_105+2596dup	XM_047421757.1:c.105+2593_105+2596dup	XM_047421757.1:c.105+2596_105+2597insCCCCCCCCCCCCCCCCCCC	XM_047421757.1:c.105+2596_105+2597insCCCCCCCCCCCCCCCCCCCCCCCCCCC
IKBKB transcript variant X3	XM_047421758.1:c.105+2582=	XM_047421758.1:c.105+2588_105+2596del	XM_047421758.1:c.105+2589_105+2596del	XM_047421758.1:c.105+2590_105+2596del	XM_047421758.1:c.105+2591_105+2596del	XM_047421758.1:c.105+2592_105+2596del	XM_047421758.1:c.105+2593_105+2596del	XM_047421758.1:c.105+2594_105+2596del	XM_047421758.1:c.105+2595_105+2596del	XM_047421758.1:c.105+2596del	XM_047421758.1:c.105+2596dup	XM_047421758.1:c.105+2595_105+2596dup	XM_047421758.1:c.105+2594_105+2596dup	XM_047421758.1:c.105+2593_105+2596dup	XM_047421758.1:c.105+2596_105+2597insCCCCCCCCCCCCCCCCCCC	XM_047421758.1:c.105+2596_105+2597insCCCCCCCCCCCCCCCCCCCCCCCCCCC
IKBKB transcript variant X4	XM_047421759.1:c.23+2582=	XM_047421759.1:c.23+2588_23+2596del	XM_047421759.1:c.23+2589_23+2596del	XM_047421759.1:c.23+2590_23+2596del	XM_047421759.1:c.23+2591_23+2596del	XM_047421759.1:c.23+2592_23+2596del	XM_047421759.1:c.23+2593_23+2596del	XM_047421759.1:c.23+2594_23+2596del	XM_047421759.1:c.23+2595_23+2596del	XM_047421759.1:c.23+2596del	XM_047421759.1:c.23+2596dup	XM_047421759.1:c.23+2595_23+2596dup	XM_047421759.1:c.23+2594_23+2596dup	XM_047421759.1:c.23+2593_23+2596dup	XM_047421759.1:c.23+2596_23+2597insCCCCCCCCCCCCCCCCCCC	XM_047421759.1:c.23+2596_23+2597insCCCCCCCCCCCCCCCCCCCCCCCCCCC
IKBKB transcript variant X6	XM_047421760.1:c.105+2582=	XM_047421760.1:c.105+2588_105+2596del	XM_047421760.1:c.105+2589_105+2596del	XM_047421760.1:c.105+2590_105+2596del	XM_047421760.1:c.105+2591_105+2596del	XM_047421760.1:c.105+2592_105+2596del	XM_047421760.1:c.105+2593_105+2596del	XM_047421760.1:c.105+2594_105+2596del	XM_047421760.1:c.105+2595_105+2596del	XM_047421760.1:c.105+2596del	XM_047421760.1:c.105+2596dup	XM_047421760.1:c.105+2595_105+2596dup	XM_047421760.1:c.105+2594_105+2596dup	XM_047421760.1:c.105+2593_105+2596dup	XM_047421760.1:c.105+2596_105+2597insCCCCCCCCCCCCCCCCCCC	XM_047421760.1:c.105+2596_105+2597insCCCCCCCCCCCCCCCCCCCCCCCCCCC
IKBKB transcript variant X7	XM_047421761.1:c.105+2582=	XM_047421761.1:c.105+2588_105+2596del	XM_047421761.1:c.105+2589_105+2596del	XM_047421761.1:c.105+2590_105+2596del	XM_047421761.1:c.105+2591_105+2596del	XM_047421761.1:c.105+2592_105+2596del	XM_047421761.1:c.105+2593_105+2596del	XM_047421761.1:c.105+2594_105+2596del	XM_047421761.1:c.105+2595_105+2596del	XM_047421761.1:c.105+2596del	XM_047421761.1:c.105+2596dup	XM_047421761.1:c.105+2595_105+2596dup	XM_047421761.1:c.105+2594_105+2596dup	XM_047421761.1:c.105+2593_105+2596dup	XM_047421761.1:c.105+2596_105+2597insCCCCCCCCCCCCCCCCCCC	XM_047421761.1:c.105+2596_105+2597insCCCCCCCCCCCCCCCCCCCCCCCCCCC
IKBKB transcript variant X8	XM_047421762.1:c.133+2582=	XM_047421762.1:c.133+2588_133+2596del	XM_047421762.1:c.133+2589_133+2596del	XM_047421762.1:c.133+2590_133+2596del	XM_047421762.1:c.133+2591_133+2596del	XM_047421762.1:c.133+2592_133+2596del	XM_047421762.1:c.133+2593_133+2596del	XM_047421762.1:c.133+2594_133+2596del	XM_047421762.1:c.133+2595_133+2596del	XM_047421762.1:c.133+2596del	XM_047421762.1:c.133+2596dup	XM_047421762.1:c.133+2595_133+2596dup	XM_047421762.1:c.133+2594_133+2596dup	XM_047421762.1:c.133+2593_133+2596dup	XM_047421762.1:c.133+2596_133+2597insCCCCCCCCCCCCCCCCCCC	XM_047421762.1:c.133+2596_133+2597insCCCCCCCCCCCCCCCCCCCCCCCCCCC
IKBKB transcript variant X10	XM_047421764.1:c.105+2582=	XM_047421764.1:c.105+2588_105+2596del	XM_047421764.1:c.105+2589_105+2596del	XM_047421764.1:c.105+2590_105+2596del	XM_047421764.1:c.105+2591_105+2596del	XM_047421764.1:c.105+2592_105+2596del	XM_047421764.1:c.105+2593_105+2596del	XM_047421764.1:c.105+2594_105+2596del	XM_047421764.1:c.105+2595_105+2596del	XM_047421764.1:c.105+2596del	XM_047421764.1:c.105+2596dup	XM_047421764.1:c.105+2595_105+2596dup	XM_047421764.1:c.105+2594_105+2596dup	XM_047421764.1:c.105+2593_105+2596dup	XM_047421764.1:c.105+2596_105+2597insCCCCCCCCCCCCCCCCCCC	XM_047421764.1:c.105+2596_105+2597insCCCCCCCCCCCCCCCCCCCCCCCCCCC

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#.

27 SubSNP, 18 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	EVA_DECODE	ss3721885420	Jul 13, 2019 (153)
2	EVA_DECODE	ss3721885421	Jul 13, 2019 (153)
3	EVA_DECODE	ss3721885422	Jul 13, 2019 (153)
4	EVA_DECODE	ss3721885423	Jul 13, 2019 (153)
5	EVA_DECODE	ss3721885424	Jul 13, 2019 (153)
6	EVA_DECODE	ss3721885425	Jul 13, 2019 (153)
7	ACPOP	ss3735608624	Jul 13, 2019 (153)
8	KOGIC	ss3963724142	Apr 26, 2020 (154)
9	KOGIC	ss3963724143	Apr 26, 2020 (154)
10	GNOMAD	ss4183163548	Apr 26, 2021 (155)
11	GNOMAD	ss4183163549	Apr 26, 2021 (155)
12	GNOMAD	ss4183163555	Apr 26, 2021 (155)
13	GNOMAD	ss4183163556	Apr 26, 2021 (155)
14	GNOMAD	ss4183163557	Apr 26, 2021 (155)
15	GNOMAD	ss4183163558	Apr 26, 2021 (155)
16	GNOMAD	ss4183163559	Apr 26, 2021 (155)
17	GNOMAD	ss4183163560	Apr 26, 2021 (155)
18	GNOMAD	ss4183163561	Apr 26, 2021 (155)
19	GNOMAD	ss4183163562	Apr 26, 2021 (155)
20	HUGCELL_USP	ss5473502126	Oct 16, 2022 (156)
21	HUGCELL_USP	ss5473502127	Oct 16, 2022 (156)
22	SANFORD_IMAGENETICS	ss5645247295	Oct 16, 2022 (156)
23	TOMMO_GENOMICS	ss5730221161	Oct 16, 2022 (156)
24	TOMMO_GENOMICS	ss5730221163	Oct 16, 2022 (156)
25	TOMMO_GENOMICS	ss5730221164	Oct 16, 2022 (156)
26	TOMMO_GENOMICS	ss5730221165	Oct 16, 2022 (156)
27	EVA	ss5888689290	Oct 16, 2022 (156)
28	gnomAD - Genomes Submission ignored due to conflicting rows: Row 293950747 (NC_000008.11:42274786::CCCCCCCCCCCCCCCCCCC 3/4958) Row 293950748 (NC_000008.11:42274786::CCCCCCCCCCCCCCCCCCCCCCCCCCC 2/4958) Row 293950754 (NC_000008.11:42274786:C: 952/4962)...	-	Apr 26, 2021 (155)
29	gnomAD - Genomes Submission ignored due to conflicting rows: Row 293950747 (NC_000008.11:42274786::CCCCCCCCCCCCCCCCCCC 3/4958) Row 293950748 (NC_000008.11:42274786::CCCCCCCCCCCCCCCCCCCCCCCCCCC 2/4958) Row 293950754 (NC_000008.11:42274786:C: 952/4962)...	-	Apr 26, 2021 (155)
30	gnomAD - Genomes Submission ignored due to conflicting rows: Row 293950747 (NC_000008.11:42274786::CCCCCCCCCCCCCCCCCCC 3/4958) Row 293950748 (NC_000008.11:42274786::CCCCCCCCCCCCCCCCCCCCCCCCCCC 2/4958) Row 293950754 (NC_000008.11:42274786:C: 952/4962)...	-	Apr 26, 2021 (155)
31	gnomAD - Genomes Submission ignored due to conflicting rows: Row 293950747 (NC_000008.11:42274786::CCCCCCCCCCCCCCCCCCC 3/4958) Row 293950748 (NC_000008.11:42274786::CCCCCCCCCCCCCCCCCCCCCCCCCCC 2/4958) Row 293950754 (NC_000008.11:42274786:C: 952/4962)...	-	Apr 26, 2021 (155)
32	gnomAD - Genomes Submission ignored due to conflicting rows: Row 293950747 (NC_000008.11:42274786::CCCCCCCCCCCCCCCCCCC 3/4958) Row 293950748 (NC_000008.11:42274786::CCCCCCCCCCCCCCCCCCCCCCCCCCC 2/4958) Row 293950754 (NC_000008.11:42274786:C: 952/4962)...	-	Apr 26, 2021 (155)
33	gnomAD - Genomes Submission ignored due to conflicting rows: Row 293950747 (NC_000008.11:42274786::CCCCCCCCCCCCCCCCCCC 3/4958) Row 293950748 (NC_000008.11:42274786::CCCCCCCCCCCCCCCCCCCCCCCCCCC 2/4958) Row 293950754 (NC_000008.11:42274786:C: 952/4962)...	-	Apr 26, 2021 (155)
34	gnomAD - Genomes Submission ignored due to conflicting rows: Row 293950747 (NC_000008.11:42274786::CCCCCCCCCCCCCCCCCCC 3/4958) Row 293950748 (NC_000008.11:42274786::CCCCCCCCCCCCCCCCCCCCCCCCCCC 2/4958) Row 293950754 (NC_000008.11:42274786:C: 952/4962)...	-	Apr 26, 2021 (155)
35	gnomAD - Genomes Submission ignored due to conflicting rows: Row 293950747 (NC_000008.11:42274786::CCCCCCCCCCCCCCCCCCC 3/4958) Row 293950748 (NC_000008.11:42274786::CCCCCCCCCCCCCCCCCCCCCCCCCCC 2/4958) Row 293950754 (NC_000008.11:42274786:C: 952/4962)...	-	Apr 26, 2021 (155)
36	gnomAD - Genomes Submission ignored due to conflicting rows: Row 293950747 (NC_000008.11:42274786::CCCCCCCCCCCCCCCCCCC 3/4958) Row 293950748 (NC_000008.11:42274786::CCCCCCCCCCCCCCCCCCCCCCCCCCC 2/4958) Row 293950754 (NC_000008.11:42274786:C: 952/4962)...	-	Apr 26, 2021 (155)
37	gnomAD - Genomes Submission ignored due to conflicting rows: Row 293950747 (NC_000008.11:42274786::CCCCCCCCCCCCCCCCCCC 3/4958) Row 293950748 (NC_000008.11:42274786::CCCCCCCCCCCCCCCCCCCCCCCCCCC 2/4958) Row 293950754 (NC_000008.11:42274786:C: 952/4962)...	-	Apr 26, 2021 (155)
38	Korean Genome Project Submission ignored due to conflicting rows: Row 20102143 (NC_000008.11:42274789:C: 91/1018) Row 20102144 (NC_000008.11:42274786:CCCC: 1/1018)	-	Apr 26, 2020 (154)
39	Korean Genome Project Submission ignored due to conflicting rows: Row 20102143 (NC_000008.11:42274789:C: 91/1018) Row 20102144 (NC_000008.11:42274786:CCCC: 1/1018)	-	Apr 26, 2020 (154)
40	Northern Sweden	NC_000008.10 - 42132305	Jul 13, 2019 (153)
41	14KJPN Submission ignored due to conflicting rows: Row 64058265 (NC_000008.11:42274786:C: 859/24688) Row 64058267 (NC_000008.11:42274786::C 833/24688) Row 64058268 (NC_000008.11:42274786::CC 837/24688)...	-	Oct 16, 2022 (156)
42	14KJPN Submission ignored due to conflicting rows: Row 64058265 (NC_000008.11:42274786:C: 859/24688) Row 64058267 (NC_000008.11:42274786::C 833/24688) Row 64058268 (NC_000008.11:42274786::CC 837/24688)...	-	Oct 16, 2022 (156)
43	14KJPN Submission ignored due to conflicting rows: Row 64058265 (NC_000008.11:42274786:C: 859/24688) Row 64058267 (NC_000008.11:42274786::C 833/24688) Row 64058268 (NC_000008.11:42274786::CC 837/24688)...	-	Oct 16, 2022 (156)
44	14KJPN Submission ignored due to conflicting rows: Row 64058265 (NC_000008.11:42274786:C: 859/24688) Row 64058267 (NC_000008.11:42274786::C 833/24688) Row 64058268 (NC_000008.11:42274786::CC 837/24688)...	-	Oct 16, 2022 (156)
45	ALFA	NC_000008.11 - 42274787	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
ss4183163562	NC_000008.11:42274786:CCCCCCCCC:	NC_000008.11:42274786:CCCCCCCCCCCC… NC_000008.11:42274786:CCCCCCCCCCCCCCC:CCCCCC	(self)
8645905803	NC_000008.11:42274786:CCCCCCCCCCCC… NC_000008.11:42274786:CCCCCCCCCCCCCCC:CCCCCC	NC_000008.11:42274786:CCCCCCCCCCCC… NC_000008.11:42274786:CCCCCCCCCCCCCCC:CCCCCC	(self)
ss4183163561	NC_000008.11:42274786:CCCCCCCC:	NC_000008.11:42274786:CCCCCCCCCCCC… NC_000008.11:42274786:CCCCCCCCCCCCCCC:CCCCCCC	(self)
8645905803	NC_000008.11:42274786:CCCCCCCCCCCC… NC_000008.11:42274786:CCCCCCCCCCCCCCC:CCCCCCC	NC_000008.11:42274786:CCCCCCCCCCCC… NC_000008.11:42274786:CCCCCCCCCCCCCCC:CCCCCCC	(self)
ss4183163560	NC_000008.11:42274786:CCCCCCC:	NC_000008.11:42274786:CCCCCCCCCCCC… NC_000008.11:42274786:CCCCCCCCCCCCCCC:CCCCCCCC	(self)
8645905803	NC_000008.11:42274786:CCCCCCCCCCCC… NC_000008.11:42274786:CCCCCCCCCCCCCCC:CCCCCCCC	NC_000008.11:42274786:CCCCCCCCCCCC… NC_000008.11:42274786:CCCCCCCCCCCCCCC:CCCCCCCC	(self)
ss4183163559, ss5473502126, ss5888689290	NC_000008.11:42274786:CCCCCC:	NC_000008.11:42274786:CCCCCCCCCCCC… NC_000008.11:42274786:CCCCCCCCCCCCCCC:CCCCCCCCC	(self)
8645905803	NC_000008.11:42274786:CCCCCCCCCCCC… NC_000008.11:42274786:CCCCCCCCCCCCCCC:CCCCCCCCC	NC_000008.11:42274786:CCCCCCCCCCCC… NC_000008.11:42274786:CCCCCCCCCCCCCCC:CCCCCCCCC	(self)
ss3721885425, ss4183163558	NC_000008.11:42274786:CCCCC:	NC_000008.11:42274786:CCCCCCCCCCCC… NC_000008.11:42274786:CCCCCCCCCCCCCCC:CCCCCCCCCC	(self)
8645905803	NC_000008.11:42274786:CCCCCCCCCCCC… NC_000008.11:42274786:CCCCCCCCCCCCCCC:CCCCCCCCCC	NC_000008.11:42274786:CCCCCCCCCCCC… NC_000008.11:42274786:CCCCCCCCCCCCCCC:CCCCCCCCCC	(self)
ss3963724143	NC_000008.11:42274786:CCCC:	NC_000008.11:42274786:CCCCCCCCCCCC… NC_000008.11:42274786:CCCCCCCCCCCCCCC:CCCCCCCCCCC	(self)
8645905803	NC_000008.11:42274786:CCCCCCCCCCCC… NC_000008.11:42274786:CCCCCCCCCCCCCCC:CCCCCCCCCCC	NC_000008.11:42274786:CCCCCCCCCCCC… NC_000008.11:42274786:CCCCCCCCCCCCCCC:CCCCCCCCCCC	(self)
ss3721885424	NC_000008.11:42274787:CCCC:	NC_000008.11:42274786:CCCCCCCCCCCC… NC_000008.11:42274786:CCCCCCCCCCCCCCC:CCCCCCCCCCC	(self)
ss4183163557	NC_000008.11:42274786:CCC:	NC_000008.11:42274786:CCCCCCCCCCCC… NC_000008.11:42274786:CCCCCCCCCCCCCCC:CCCCCCCCCCCC	(self)
ss4183163556	NC_000008.11:42274786:CC:	NC_000008.11:42274786:CCCCCCCCCCCC… NC_000008.11:42274786:CCCCCCCCCCCCCCC:CCCCCCCCCCCCC	(self)
8645905803	NC_000008.11:42274786:CCCCCCCCCCCC… NC_000008.11:42274786:CCCCCCCCCCCCCCC:CCCCCCCCCCCCC	NC_000008.11:42274786:CCCCCCCCCCCC… NC_000008.11:42274786:CCCCCCCCCCCCCCC:CCCCCCCCCCCCC	(self)
8893489, ss3735608624, ss5645247295	NC_000008.10:42132304:C:	NC_000008.11:42274786:CCCCCCCCCCCC… NC_000008.11:42274786:CCCCCCCCCCCCCCC:CCCCCCCCCCCCCC	(self)
ss4183163555, ss5473502127, ss5730221161	NC_000008.11:42274786:C:	NC_000008.11:42274786:CCCCCCCCCCCC… NC_000008.11:42274786:CCCCCCCCCCCCCCC:CCCCCCCCCCCCCC	(self)
8645905803	NC_000008.11:42274786:CCCCCCCCCCCC… NC_000008.11:42274786:CCCCCCCCCCCCCCC:CCCCCCCCCCCCCC	NC_000008.11:42274786:CCCCCCCCCCCC… NC_000008.11:42274786:CCCCCCCCCCCCCCC:CCCCCCCCCCCCCC	(self)
ss3963724142	NC_000008.11:42274789:C:	NC_000008.11:42274786:CCCCCCCCCCCC… NC_000008.11:42274786:CCCCCCCCCCCCCCC:CCCCCCCCCCCCCC	(self)
ss3721885423	NC_000008.11:42274790:C:	NC_000008.11:42274786:CCCCCCCCCCCC… NC_000008.11:42274786:CCCCCCCCCCCCCCC:CCCCCCCCCCCCCC	(self)
ss5730221163	NC_000008.11:42274786::C	NC_000008.11:42274786:CCCCCCCCCCCC… NC_000008.11:42274786:CCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCC	(self)
8645905803	NC_000008.11:42274786:CCCCCCCCCCCC… NC_000008.11:42274786:CCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCC	NC_000008.11:42274786:CCCCCCCCCCCC… NC_000008.11:42274786:CCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCC	(self)
ss3721885422	NC_000008.11:42274791::C	NC_000008.11:42274786:CCCCCCCCCCCC… NC_000008.11:42274786:CCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCC	(self)
ss5730221164	NC_000008.11:42274786::CC	NC_000008.11:42274786:CCCCCCCCCCCC… NC_000008.11:42274786:CCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCC	(self)
8645905803	NC_000008.11:42274786:CCCCCCCCCCCC… NC_000008.11:42274786:CCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCC	NC_000008.11:42274786:CCCCCCCCCCCC… NC_000008.11:42274786:CCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCC	(self)
ss3721885421	NC_000008.11:42274791::CC	NC_000008.11:42274786:CCCCCCCCCCCC… NC_000008.11:42274786:CCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCC	(self)
ss5730221165	NC_000008.11:42274786::CCC	NC_000008.11:42274786:CCCCCCCCCCCC… NC_000008.11:42274786:CCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCC
8645905803	NC_000008.11:42274786:CCCCCCCCCCCC… NC_000008.11:42274786:CCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCC	NC_000008.11:42274786:CCCCCCCCCCCC… NC_000008.11:42274786:CCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCC	(self)
8645905803	NC_000008.11:42274786:CCCCCCCCCCCC… NC_000008.11:42274786:CCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCC	NC_000008.11:42274786:CCCCCCCCCCCC… NC_000008.11:42274786:CCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCC	(self)
ss3721885420	NC_000008.11:42274791::CCCC	NC_000008.11:42274786:CCCCCCCCCCCC… NC_000008.11:42274786:CCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCC	(self)
ss4183163548	NC_000008.11:42274786::CCCCCCCCCCC… NC_000008.11:42274786::CCCCCCCCCCCCCCCCCCC	NC_000008.11:42274786:CCCCCCCCCCCC… NC_000008.11:42274786:CCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	(self)
ss4183163549	NC_000008.11:42274786::CCCCCCCCCCC… NC_000008.11:42274786::CCCCCCCCCCCCCCCCCCCCCCCCCCC	NC_000008.11:42274786:CCCCCCCCCCCC… NC_000008.11:42274786:CCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	(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 rs1224930652

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
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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.
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs1224930652