Name: rs1555472868
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.

rs1555472868

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr16:50363661-50363673 (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(CG)₆ / del(CG)₅ / del(CG)₄ / d…
del(CG)₆ / del(CG)₅ / del(CG)₄ / del(CG)₃ / delCGCG / delCG / dupCG / dupCGCG / dup(CG)₃
Variation Type: Indel Insertion and Deletion
Frequency: delCG=0.01249 (353/28258, 14KJPN)
delCG=0.01215 (197/16216, 8.3KJPN)
del(CG)₆=0.00000 (0/11152, ALFA) (+ 8 more)
del(CG)₅=0.00000 (0/11152, ALFA)
del(CG)₄=0.00000 (0/11152, ALFA)
del(CG)₃=0.00000 (0/11152, ALFA)
delCGCG=0.00000 (0/11152, ALFA)
delCG=0.00000 (0/11152, ALFA)
dupCG=0.00000 (0/11152, ALFA)
dupCGCG=0.00000 (0/11152, ALFA)
dup(CG)₃=0.00000 (0/11152, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: BRD7 : 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	11152	GCGCGCGCGCGCG=1.00000	G=0.00000, GCG=0.00000, GCGCG=0.00000, GCGCGCG=0.00000, GCGCGCGCG=0.00000, GCGCGCGCGCG=0.00000, GCGCGCGCGCGCGCG=0.00000, GCGCGCGCGCGCGCGCG=0.00000, GCGCGCGCGCGCGCGCGCG=0.00000	1.0	N/A
European	Sub	7570	GCGCGCGCGCGCG=1.0000	G=0.0000, GCG=0.0000, GCGCG=0.0000, GCGCGCG=0.0000, GCGCGCGCG=0.0000, GCGCGCGCGCG=0.0000, GCGCGCGCGCGCGCG=0.0000, GCGCGCGCGCGCGCGCG=0.0000, GCGCGCGCGCGCGCGCGCG=0.0000	1.0	N/A
African	Sub	2220	GCGCGCGCGCGCG=1.0000	G=0.0000, GCG=0.0000, GCGCG=0.0000, GCGCGCG=0.0000, GCGCGCGCG=0.0000, GCGCGCGCGCG=0.0000, GCGCGCGCGCGCGCG=0.0000, GCGCGCGCGCGCGCGCG=0.0000, GCGCGCGCGCGCGCGCGCG=0.0000	1.0	N/A
African Others	Sub	84	GCGCGCGCGCGCG=1.00	G=0.00, GCG=0.00, GCGCG=0.00, GCGCGCG=0.00, GCGCGCGCG=0.00, GCGCGCGCGCG=0.00, GCGCGCGCGCGCGCG=0.00, GCGCGCGCGCGCGCGCG=0.00, GCGCGCGCGCGCGCGCGCG=0.00	1.0	N/A
African American	Sub	2136	GCGCGCGCGCGCG=1.0000	G=0.0000, GCG=0.0000, GCGCG=0.0000, GCGCGCG=0.0000, GCGCGCGCG=0.0000, GCGCGCGCGCG=0.0000, GCGCGCGCGCGCGCG=0.0000, GCGCGCGCGCGCGCGCG=0.0000, GCGCGCGCGCGCGCGCGCG=0.0000	1.0	N/A
Asian	Sub	106	GCGCGCGCGCGCG=1.000	G=0.000, GCG=0.000, GCGCG=0.000, GCGCGCG=0.000, GCGCGCGCG=0.000, GCGCGCGCGCG=0.000, GCGCGCGCGCGCGCG=0.000, GCGCGCGCGCGCGCGCG=0.000, GCGCGCGCGCGCGCGCGCG=0.000	1.0	N/A
East Asian	Sub	82	GCGCGCGCGCGCG=1.00	G=0.00, GCG=0.00, GCGCG=0.00, GCGCGCG=0.00, GCGCGCGCG=0.00, GCGCGCGCGCG=0.00, GCGCGCGCGCGCGCG=0.00, GCGCGCGCGCGCGCGCG=0.00, GCGCGCGCGCGCGCGCGCG=0.00	1.0	N/A
Other Asian	Sub	24	GCGCGCGCGCGCG=1.00	G=0.00, GCG=0.00, GCGCG=0.00, GCGCGCG=0.00, GCGCGCGCG=0.00, GCGCGCGCGCG=0.00, GCGCGCGCGCGCGCG=0.00, GCGCGCGCGCGCGCGCG=0.00, GCGCGCGCGCGCGCGCGCG=0.00	1.0	N/A
Latin American 1	Sub	136	GCGCGCGCGCGCG=1.000	G=0.000, GCG=0.000, GCGCG=0.000, GCGCGCG=0.000, GCGCGCGCG=0.000, GCGCGCGCGCG=0.000, GCGCGCGCGCGCGCG=0.000, GCGCGCGCGCGCGCGCG=0.000, GCGCGCGCGCGCGCGCGCG=0.000	1.0	N/A
Latin American 2	Sub	592	GCGCGCGCGCGCG=1.000	G=0.000, GCG=0.000, GCGCG=0.000, GCGCGCG=0.000, GCGCGCGCG=0.000, GCGCGCGCGCG=0.000, GCGCGCGCGCGCGCG=0.000, GCGCGCGCGCGCGCGCG=0.000, GCGCGCGCGCGCGCGCGCG=0.000	1.0	N/A
South Asian	Sub	92	GCGCGCGCGCGCG=1.00	G=0.00, GCG=0.00, GCGCG=0.00, GCGCGCG=0.00, GCGCGCGCG=0.00, GCGCGCGCGCG=0.00, GCGCGCGCGCGCGCG=0.00, GCGCGCGCGCGCGCGCG=0.00, GCGCGCGCGCGCGCGCGCG=0.00	1.0	N/A
Other	Sub	436	GCGCGCGCGCGCG=1.000	G=0.000, GCG=0.000, GCGCG=0.000, GCGCGCG=0.000, GCGCGCGCG=0.000, GCGCGCGCGCG=0.000, GCGCGCGCGCGCGCG=0.000, GCGCGCGCGCGCGCGCG=0.000, GCGCGCGCGCGCGCGCGCG=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
14KJPN	JAPANESE	Study-wide	28258	(GC)₆G=0.98751	delCG=0.01249
8.3KJPN	JAPANESE	Study-wide	16216	(GC)₆G=0.98785	delCG=0.01215
Allele Frequency Aggregator	Total	Global	11152	(GC)₆G=1.00000	del(CG)₆=0.00000, del(CG)₅=0.00000, del(CG)₄=0.00000, del(CG)₃=0.00000, delCGCG=0.00000, delCG=0.00000, dupCG=0.00000, dupCGCG=0.00000, dup(CG)₃=0.00000
Allele Frequency Aggregator	European	Sub	7570	(GC)₆G=1.0000	del(CG)₆=0.0000, del(CG)₅=0.0000, del(CG)₄=0.0000, del(CG)₃=0.0000, delCGCG=0.0000, delCG=0.0000, dupCG=0.0000, dupCGCG=0.0000, dup(CG)₃=0.0000
Allele Frequency Aggregator	African	Sub	2220	(GC)₆G=1.0000	del(CG)₆=0.0000, del(CG)₅=0.0000, del(CG)₄=0.0000, del(CG)₃=0.0000, delCGCG=0.0000, delCG=0.0000, dupCG=0.0000, dupCGCG=0.0000, dup(CG)₃=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	592	(GC)₆G=1.000	del(CG)₆=0.000, del(CG)₅=0.000, del(CG)₄=0.000, del(CG)₃=0.000, delCGCG=0.000, delCG=0.000, dupCG=0.000, dupCGCG=0.000, dup(CG)₃=0.000
Allele Frequency Aggregator	Other	Sub	436	(GC)₆G=1.000	del(CG)₆=0.000, del(CG)₅=0.000, del(CG)₄=0.000, del(CG)₃=0.000, delCGCG=0.000, delCG=0.000, dupCG=0.000, dupCGCG=0.000, dup(CG)₃=0.000
Allele Frequency Aggregator	Latin American 1	Sub	136	(GC)₆G=1.000	del(CG)₆=0.000, del(CG)₅=0.000, del(CG)₄=0.000, del(CG)₃=0.000, delCGCG=0.000, delCG=0.000, dupCG=0.000, dupCGCG=0.000, dup(CG)₃=0.000
Allele Frequency Aggregator	Asian	Sub	106	(GC)₆G=1.000	del(CG)₆=0.000, del(CG)₅=0.000, del(CG)₄=0.000, del(CG)₃=0.000, delCGCG=0.000, delCG=0.000, dupCG=0.000, dupCGCG=0.000, dup(CG)₃=0.000
Allele Frequency Aggregator	South Asian	Sub	92	(GC)₆G=1.00	del(CG)₆=0.00, del(CG)₅=0.00, del(CG)₄=0.00, del(CG)₃=0.00, delCGCG=0.00, delCG=0.00, dupCG=0.00, dupCGCG=0.00, dup(CG)₃=0.00

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements

Sequence name	Change
GRCh38.p14 chr 16	NC_000016.10:g.50363662_50363673del
GRCh38.p14 chr 16	NC_000016.10:g.50363662CG[1]
GRCh38.p14 chr 16	NC_000016.10:g.50363662CG[2]
GRCh38.p14 chr 16	NC_000016.10:g.50363662CG[3]
GRCh38.p14 chr 16	NC_000016.10:g.50363662CG[4]
GRCh38.p14 chr 16	NC_000016.10:g.50363662CG[5]
GRCh38.p14 chr 16	NC_000016.10:g.50363662CG[7]
GRCh38.p14 chr 16	NC_000016.10:g.50363662CG[8]
GRCh38.p14 chr 16	NC_000016.10:g.50363662CG[9]
GRCh37.p13 chr 16	NC_000016.9:g.50397573_50397584del
GRCh37.p13 chr 16	NC_000016.9:g.50397573CG[1]
GRCh37.p13 chr 16	NC_000016.9:g.50397573CG[2]
GRCh37.p13 chr 16	NC_000016.9:g.50397573CG[3]
GRCh37.p13 chr 16	NC_000016.9:g.50397573CG[4]
GRCh37.p13 chr 16	NC_000016.9:g.50397573CG[5]
GRCh37.p13 chr 16	NC_000016.9:g.50397573CG[7]
GRCh37.p13 chr 16	NC_000016.9:g.50397573CG[8]
GRCh37.p13 chr 16	NC_000016.9:g.50397573CG[9]
BRD7 RefSeqGene	NG_023418.1:g.10263_10274del
BRD7 RefSeqGene	NG_023418.1:g.10263GC[1]
BRD7 RefSeqGene	NG_023418.1:g.10263GC[2]
BRD7 RefSeqGene	NG_023418.1:g.10263GC[3]
BRD7 RefSeqGene	NG_023418.1:g.10263GC[4]
BRD7 RefSeqGene	NG_023418.1:g.10263GC[5]
BRD7 RefSeqGene	NG_023418.1:g.10263GC[7]
BRD7 RefSeqGene	NG_023418.1:g.10263GC[8]
BRD7 RefSeqGene	NG_023418.1:g.10263GC[9]

Gene: BRD7, bromodomain containing 7 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
BRD7 transcript variant 1	NM_001173984.3:c.258+4418… NM_001173984.3:c.258+4418_258+4429del	N/A	Intron Variant
BRD7 transcript variant 2	NM_013263.5:c.258+4418_25… NM_013263.5:c.258+4418_258+4429del	N/A	Intron Variant
BRD7 transcript variant X1	XM_011523046.4:c.309+4367… XM_011523046.4:c.309+4367_309+4378del	N/A	Intron Variant
BRD7 transcript variant X2	XM_011523047.3:c.309+4367… XM_011523047.3:c.309+4367_309+4378del	N/A	Intron Variant
BRD7 transcript variant X3	XM_011523048.3:c.309+4367… XM_011523048.3:c.309+4367_309+4378del	N/A	Intron Variant
BRD7 transcript variant X4	XM_011523049.3:c.309+4367… XM_011523049.3:c.309+4367_309+4378del	N/A	Intron Variant
BRD7 transcript variant X5	XM_017023179.2:c.258+4418… XM_017023179.2:c.258+4418_258+4429del	N/A	Intron Variant
BRD7 transcript variant X6	XM_017023180.2:c.258+4418… XM_017023180.2:c.258+4418_258+4429del	N/A	Intron Variant
BRD7 transcript variant X8	XM_047434007.1:c.309+4367… XM_047434007.1:c.309+4367_309+4378del	N/A	Intron Variant
BRD7 transcript variant X9	XM_047434008.1:c.309+4367… XM_047434008.1:c.309+4367_309+4378del	N/A	Intron Variant
BRD7 transcript variant X10	XM_011523050.4:c.	N/A	Genic Upstream Transcript Variant
BRD7 transcript variant X7	XM_047434006.1: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	(GC)₆G=	del(CG)₆	del(CG)₅	del(CG)₄	del(CG)₃	delCGCG	delCG	dupCG	dupCGCG	dup(CG)₃
GRCh38.p14 chr 16	NC_000016.10:g.50363661_50363673=	NC_000016.10:g.50363662_50363673del	NC_000016.10:g.50363662CG[1]	NC_000016.10:g.50363662CG[2]	NC_000016.10:g.50363662CG[3]	NC_000016.10:g.50363662CG[4]	NC_000016.10:g.50363662CG[5]	NC_000016.10:g.50363662CG[7]	NC_000016.10:g.50363662CG[8]	NC_000016.10:g.50363662CG[9]
GRCh37.p13 chr 16	NC_000016.9:g.50397572_50397584=	NC_000016.9:g.50397573_50397584del	NC_000016.9:g.50397573CG[1]	NC_000016.9:g.50397573CG[2]	NC_000016.9:g.50397573CG[3]	NC_000016.9:g.50397573CG[4]	NC_000016.9:g.50397573CG[5]	NC_000016.9:g.50397573CG[7]	NC_000016.9:g.50397573CG[8]	NC_000016.9:g.50397573CG[9]
BRD7 RefSeqGene	NG_023418.1:g.10262_10274=	NG_023418.1:g.10263_10274del	NG_023418.1:g.10263GC[1]	NG_023418.1:g.10263GC[2]	NG_023418.1:g.10263GC[3]	NG_023418.1:g.10263GC[4]	NG_023418.1:g.10263GC[5]	NG_023418.1:g.10263GC[7]	NG_023418.1:g.10263GC[8]	NG_023418.1:g.10263GC[9]
BRD7 transcript variant 1	NM_001173984.2:c.258+4429=	NM_001173984.2:c.258+4418_258+4429del	NM_001173984.2:c.258+4420_258+4429del	NM_001173984.2:c.258+4418GC[2]	NM_001173984.2:c.258+4418GC[3]	NM_001173984.2:c.258+4418GC[4]	NM_001173984.2:c.258+4418GC[5]	NM_001173984.2:c.258+4418GC[7]	NM_001173984.2:c.258+4418GC[8]	NM_001173984.2:c.258+4418GC[9]
BRD7 transcript variant 1	NM_001173984.3:c.258+4429=	NM_001173984.3:c.258+4418_258+4429del	NM_001173984.3:c.258+4420_258+4429del	NM_001173984.3:c.258+4418GC[2]	NM_001173984.3:c.258+4418GC[3]	NM_001173984.3:c.258+4418GC[4]	NM_001173984.3:c.258+4418GC[5]	NM_001173984.3:c.258+4418GC[7]	NM_001173984.3:c.258+4418GC[8]	NM_001173984.3:c.258+4418GC[9]
BRD7 transcript variant 2	NM_013263.4:c.258+4429=	NM_013263.4:c.258+4418_258+4429del	NM_013263.4:c.258+4420_258+4429del	NM_013263.4:c.258+4418GC[2]	NM_013263.4:c.258+4418GC[3]	NM_013263.4:c.258+4418GC[4]	NM_013263.4:c.258+4418GC[5]	NM_013263.4:c.258+4418GC[7]	NM_013263.4:c.258+4418GC[8]	NM_013263.4:c.258+4418GC[9]
BRD7 transcript variant 2	NM_013263.5:c.258+4429=	NM_013263.5:c.258+4418_258+4429del	NM_013263.5:c.258+4420_258+4429del	NM_013263.5:c.258+4418GC[2]	NM_013263.5:c.258+4418GC[3]	NM_013263.5:c.258+4418GC[4]	NM_013263.5:c.258+4418GC[5]	NM_013263.5:c.258+4418GC[7]	NM_013263.5:c.258+4418GC[8]	NM_013263.5:c.258+4418GC[9]
BRD7 transcript variant X1	XM_005255911.1:c.258+4429=	XM_005255911.1:c.258+4418_258+4429del	XM_005255911.1:c.258+4420_258+4429del	XM_005255911.1:c.258+4418GC[2]	XM_005255911.1:c.258+4418GC[3]	XM_005255911.1:c.258+4418GC[4]	XM_005255911.1:c.258+4418GC[5]	XM_005255911.1:c.258+4418GC[7]	XM_005255911.1:c.258+4418GC[8]	XM_005255911.1:c.258+4418GC[9]
BRD7 transcript variant X2	XM_005255912.1:c.258+4429=	XM_005255912.1:c.258+4418_258+4429del	XM_005255912.1:c.258+4420_258+4429del	XM_005255912.1:c.258+4418GC[2]	XM_005255912.1:c.258+4418GC[3]	XM_005255912.1:c.258+4418GC[4]	XM_005255912.1:c.258+4418GC[5]	XM_005255912.1:c.258+4418GC[7]	XM_005255912.1:c.258+4418GC[8]	XM_005255912.1:c.258+4418GC[9]
BRD7 transcript variant X1	XM_011523046.4:c.309+4378=	XM_011523046.4:c.309+4367_309+4378del	XM_011523046.4:c.309+4369_309+4378del	XM_011523046.4:c.309+4367GC[2]	XM_011523046.4:c.309+4367GC[3]	XM_011523046.4:c.309+4367GC[4]	XM_011523046.4:c.309+4367GC[5]	XM_011523046.4:c.309+4367GC[7]	XM_011523046.4:c.309+4367GC[8]	XM_011523046.4:c.309+4367GC[9]
BRD7 transcript variant X2	XM_011523047.3:c.309+4378=	XM_011523047.3:c.309+4367_309+4378del	XM_011523047.3:c.309+4369_309+4378del	XM_011523047.3:c.309+4367GC[2]	XM_011523047.3:c.309+4367GC[3]	XM_011523047.3:c.309+4367GC[4]	XM_011523047.3:c.309+4367GC[5]	XM_011523047.3:c.309+4367GC[7]	XM_011523047.3:c.309+4367GC[8]	XM_011523047.3:c.309+4367GC[9]
BRD7 transcript variant X3	XM_011523048.3:c.309+4378=	XM_011523048.3:c.309+4367_309+4378del	XM_011523048.3:c.309+4369_309+4378del	XM_011523048.3:c.309+4367GC[2]	XM_011523048.3:c.309+4367GC[3]	XM_011523048.3:c.309+4367GC[4]	XM_011523048.3:c.309+4367GC[5]	XM_011523048.3:c.309+4367GC[7]	XM_011523048.3:c.309+4367GC[8]	XM_011523048.3:c.309+4367GC[9]
BRD7 transcript variant X4	XM_011523049.3:c.309+4378=	XM_011523049.3:c.309+4367_309+4378del	XM_011523049.3:c.309+4369_309+4378del	XM_011523049.3:c.309+4367GC[2]	XM_011523049.3:c.309+4367GC[3]	XM_011523049.3:c.309+4367GC[4]	XM_011523049.3:c.309+4367GC[5]	XM_011523049.3:c.309+4367GC[7]	XM_011523049.3:c.309+4367GC[8]	XM_011523049.3:c.309+4367GC[9]
BRD7 transcript variant X5	XM_017023179.2:c.258+4429=	XM_017023179.2:c.258+4418_258+4429del	XM_017023179.2:c.258+4420_258+4429del	XM_017023179.2:c.258+4418GC[2]	XM_017023179.2:c.258+4418GC[3]	XM_017023179.2:c.258+4418GC[4]	XM_017023179.2:c.258+4418GC[5]	XM_017023179.2:c.258+4418GC[7]	XM_017023179.2:c.258+4418GC[8]	XM_017023179.2:c.258+4418GC[9]
BRD7 transcript variant X6	XM_017023180.2:c.258+4429=	XM_017023180.2:c.258+4418_258+4429del	XM_017023180.2:c.258+4420_258+4429del	XM_017023180.2:c.258+4418GC[2]	XM_017023180.2:c.258+4418GC[3]	XM_017023180.2:c.258+4418GC[4]	XM_017023180.2:c.258+4418GC[5]	XM_017023180.2:c.258+4418GC[7]	XM_017023180.2:c.258+4418GC[8]	XM_017023180.2:c.258+4418GC[9]
BRD7 transcript variant X8	XM_047434007.1:c.309+4378=	XM_047434007.1:c.309+4367_309+4378del	XM_047434007.1:c.309+4369_309+4378del	XM_047434007.1:c.309+4367GC[2]	XM_047434007.1:c.309+4367GC[3]	XM_047434007.1:c.309+4367GC[4]	XM_047434007.1:c.309+4367GC[5]	XM_047434007.1:c.309+4367GC[7]	XM_047434007.1:c.309+4367GC[8]	XM_047434007.1:c.309+4367GC[9]
BRD7 transcript variant X9	XM_047434008.1:c.309+4378=	XM_047434008.1:c.309+4367_309+4378del	XM_047434008.1:c.309+4369_309+4378del	XM_047434008.1:c.309+4367GC[2]	XM_047434008.1:c.309+4367GC[3]	XM_047434008.1:c.309+4367GC[4]	XM_047434008.1:c.309+4367GC[5]	XM_047434008.1:c.309+4367GC[7]	XM_047434008.1:c.309+4367GC[8]	XM_047434008.1:c.309+4367GC[9]

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#.

14 SubSNP, 12 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	LUNTER	ss552473529	Apr 25, 2013 (138)
2	EVA	ss3834563445	Apr 27, 2020 (154)
3	GNOMAD	ss4300786902	Apr 26, 2021 (155)
4	GNOMAD	ss4300786903	Apr 26, 2021 (155)
5	GNOMAD	ss4300786904	Apr 26, 2021 (155)
6	GNOMAD	ss4300786929	Apr 26, 2021 (155)
7	GNOMAD	ss4300786930	Apr 26, 2021 (155)
8	GNOMAD	ss4300786931	Apr 26, 2021 (155)
9	GNOMAD	ss4300786932	Apr 26, 2021 (155)
10	GNOMAD	ss4300786933	Apr 26, 2021 (155)
11	GNOMAD	ss4300786934	Apr 26, 2021 (155)
12	TOMMO_GENOMICS	ss5219518489	Apr 26, 2021 (155)
13	HUGCELL_USP	ss5494268787	Oct 17, 2022 (156)
14	TOMMO_GENOMICS	ss5774514312	Oct 17, 2022 (156)
15	gnomAD - Genomes Submission ignored due to conflicting rows: Row 489214945 (NC_000016.10:50363660::GC 496/94350) Row 489214946 (NC_000016.10:50363660::GCGC 7/94360) Row 489214947 (NC_000016.10:50363660::GCGCGC 16/94360)...	-	Apr 26, 2021 (155)
16	gnomAD - Genomes Submission ignored due to conflicting rows: Row 489214945 (NC_000016.10:50363660::GC 496/94350) Row 489214946 (NC_000016.10:50363660::GCGC 7/94360) Row 489214947 (NC_000016.10:50363660::GCGCGC 16/94360)...	-	Apr 26, 2021 (155)
17	gnomAD - Genomes Submission ignored due to conflicting rows: Row 489214945 (NC_000016.10:50363660::GC 496/94350) Row 489214946 (NC_000016.10:50363660::GCGC 7/94360) Row 489214947 (NC_000016.10:50363660::GCGCGC 16/94360)...	-	Apr 26, 2021 (155)
18	gnomAD - Genomes Submission ignored due to conflicting rows: Row 489214945 (NC_000016.10:50363660::GC 496/94350) Row 489214946 (NC_000016.10:50363660::GCGC 7/94360) Row 489214947 (NC_000016.10:50363660::GCGCGC 16/94360)...	-	Apr 26, 2021 (155)
19	gnomAD - Genomes Submission ignored due to conflicting rows: Row 489214945 (NC_000016.10:50363660::GC 496/94350) Row 489214946 (NC_000016.10:50363660::GCGC 7/94360) Row 489214947 (NC_000016.10:50363660::GCGCGC 16/94360)...	-	Apr 26, 2021 (155)
20	gnomAD - Genomes Submission ignored due to conflicting rows: Row 489214945 (NC_000016.10:50363660::GC 496/94350) Row 489214946 (NC_000016.10:50363660::GCGC 7/94360) Row 489214947 (NC_000016.10:50363660::GCGCGC 16/94360)...	-	Apr 26, 2021 (155)
21	gnomAD - Genomes Submission ignored due to conflicting rows: Row 489214945 (NC_000016.10:50363660::GC 496/94350) Row 489214946 (NC_000016.10:50363660::GCGC 7/94360) Row 489214947 (NC_000016.10:50363660::GCGCGC 16/94360)...	-	Apr 26, 2021 (155)
22	gnomAD - Genomes Submission ignored due to conflicting rows: Row 489214945 (NC_000016.10:50363660::GC 496/94350) Row 489214946 (NC_000016.10:50363660::GCGC 7/94360) Row 489214947 (NC_000016.10:50363660::GCGCGC 16/94360)...	-	Apr 26, 2021 (155)
23	gnomAD - Genomes Submission ignored due to conflicting rows: Row 489214945 (NC_000016.10:50363660::GC 496/94350) Row 489214946 (NC_000016.10:50363660::GCGC 7/94360) Row 489214947 (NC_000016.10:50363660::GCGCGC 16/94360)...	-	Apr 26, 2021 (155)
24	8.3KJPN	NC_000016.9 - 50397572	Apr 26, 2021 (155)
25	14KJPN	NC_000016.10 - 50363661	Oct 17, 2022 (156)
26	ALFA	NC_000016.10 - 50363661	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
ss552473529	NC_000016.8:48955072:GCGCGCGCGCGC:	NC_000016.10:50363660:GCGCGCGCGCGC… NC_000016.10:50363660:GCGCGCGCGCGCG:G	(self)
ss4300786934	NC_000016.10:50363660:GCGCGCGCGCGC:	NC_000016.10:50363660:GCGCGCGCGCGC… NC_000016.10:50363660:GCGCGCGCGCGCG:G	(self)
7667559491	NC_000016.10:50363660:GCGCGCGCGCGC… NC_000016.10:50363660:GCGCGCGCGCGCG:G	NC_000016.10:50363660:GCGCGCGCGCGC… NC_000016.10:50363660:GCGCGCGCGCGCG:G	(self)
ss4300786933	NC_000016.10:50363660:GCGCGCGCGC:	NC_000016.10:50363660:GCGCGCGCGCGC… NC_000016.10:50363660:GCGCGCGCGCGCG:GCG	(self)
7667559491	NC_000016.10:50363660:GCGCGCGCGCGC… NC_000016.10:50363660:GCGCGCGCGCGCG:GCG	NC_000016.10:50363660:GCGCGCGCGCGC… NC_000016.10:50363660:GCGCGCGCGCGCG:GCG	(self)
ss4300786932	NC_000016.10:50363660:GCGCGCGC:	NC_000016.10:50363660:GCGCGCGCGCGC… NC_000016.10:50363660:GCGCGCGCGCGCG:GCGCG	(self)
7667559491	NC_000016.10:50363660:GCGCGCGCGCGC… NC_000016.10:50363660:GCGCGCGCGCGCG:GCGCG	NC_000016.10:50363660:GCGCGCGCGCGC… NC_000016.10:50363660:GCGCGCGCGCGCG:GCGCG	(self)
ss3834563445	NC_000016.9:50397571:GCGCGC:	NC_000016.10:50363660:GCGCGCGCGCGC… NC_000016.10:50363660:GCGCGCGCGCGCG:GCGCGCG	(self)
ss4300786931	NC_000016.10:50363660:GCGCGC:	NC_000016.10:50363660:GCGCGCGCGCGC… NC_000016.10:50363660:GCGCGCGCGCGCG:GCGCGCG	(self)
7667559491	NC_000016.10:50363660:GCGCGCGCGCGC… NC_000016.10:50363660:GCGCGCGCGCGCG:GCGCGCG	NC_000016.10:50363660:GCGCGCGCGCGC… NC_000016.10:50363660:GCGCGCGCGCGCG:GCGCGCG	(self)
ss4300786930	NC_000016.10:50363660:GCGC:	NC_000016.10:50363660:GCGCGCGCGCGC… NC_000016.10:50363660:GCGCGCGCGCGCG:GCGCGCGCG	(self)
7667559491	NC_000016.10:50363660:GCGCGCGCGCGC… NC_000016.10:50363660:GCGCGCGCGCGCG:GCGCGCGCG	NC_000016.10:50363660:GCGCGCGCGCGC… NC_000016.10:50363660:GCGCGCGCGCGCG:GCGCGCGCG	(self)
77487796, ss5219518489	NC_000016.9:50397571:GC:	NC_000016.10:50363660:GCGCGCGCGCGC… NC_000016.10:50363660:GCGCGCGCGCGCG:GCGCGCGCGCG	(self)
108351416, ss4300786929, ss5494268787, ss5774514312	NC_000016.10:50363660:GC:	NC_000016.10:50363660:GCGCGCGCGCGC… NC_000016.10:50363660:GCGCGCGCGCGCG:GCGCGCGCGCG	(self)
7667559491	NC_000016.10:50363660:GCGCGCGCGCGC… NC_000016.10:50363660:GCGCGCGCGCGCG:GCGCGCGCGCG	NC_000016.10:50363660:GCGCGCGCGCGC… NC_000016.10:50363660:GCGCGCGCGCGCG:GCGCGCGCGCG	(self)
ss4300786902	NC_000016.10:50363660::GC	NC_000016.10:50363660:GCGCGCGCGCGC… NC_000016.10:50363660:GCGCGCGCGCGCG:GCGCGCGCGCGCGCG	(self)
7667559491	NC_000016.10:50363660:GCGCGCGCGCGC… NC_000016.10:50363660:GCGCGCGCGCGCG:GCGCGCGCGCGCGCG	NC_000016.10:50363660:GCGCGCGCGCGC… NC_000016.10:50363660:GCGCGCGCGCGCG:GCGCGCGCGCGCGCG	(self)
ss4300786903	NC_000016.10:50363660::GCGC	NC_000016.10:50363660:GCGCGCGCGCGC… NC_000016.10:50363660:GCGCGCGCGCGCG:GCGCGCGCGCGCGCGCG	(self)
7667559491	NC_000016.10:50363660:GCGCGCGCGCGC… NC_000016.10:50363660:GCGCGCGCGCGCG:GCGCGCGCGCGCGCGCG	NC_000016.10:50363660:GCGCGCGCGCGC… NC_000016.10:50363660:GCGCGCGCGCGCG:GCGCGCGCGCGCGCGCG	(self)
ss4300786904	NC_000016.10:50363660::GCGCGC	NC_000016.10:50363660:GCGCGCGCGCGC… NC_000016.10:50363660:GCGCGCGCGCGCG:GCGCGCGCGCGCGCGCGCG	(self)
7667559491	NC_000016.10:50363660:GCGCGCGCGCGC… NC_000016.10:50363660:GCGCGCGCGCGCG:GCGCGCGCGCGCGCGCGCG	NC_000016.10:50363660:GCGCGCGCGCGC… NC_000016.10:50363660:GCGCGCGCGCGCG:GCGCGCGCGCGCGCGCGCG	(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 rs1555472868

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).
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs1555472868