Name: rs66698312
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.

rs66698312

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr2:159604952-159604956 (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: delCGCG / delCG / dupCG / dupCGCG …
delCGCG / delCG / dupCG / dupCGCG / ins(CG)₃
Variation Type: Indel Insertion and Deletion
Frequency: dupCGCG=0.00029 (4/13971, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: BAZ2B : 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	13971	GCGCG=0.99971	G=0.00000, GCG=0.00000, GCGCGCG=0.00000, GCGCGCGCG=0.00029, GCGCGCGCGCG=0.00000	0.999532	0.000468	0
European	Sub	9762	GCGCG=0.9996	G=0.0000, GCG=0.0000, GCGCGCG=0.0000, GCGCGCGCG=0.0004, GCGCGCGCGCG=0.0000	0.999304	0.000696	0
African	Sub	2794	GCGCG=1.0000	G=0.0000, GCG=0.0000, GCGCGCG=0.0000, GCGCGCGCG=0.0000, GCGCGCGCGCG=0.0000	1.0	0.0	N/A
African Others	Sub	108	GCGCG=1.000	G=0.000, GCG=0.000, GCGCGCG=0.000, GCGCGCGCG=0.000, GCGCGCGCGCG=0.000	1.0	0.0	N/A
African American	Sub	2686	GCGCG=1.0000	G=0.0000, GCG=0.0000, GCGCGCG=0.0000, GCGCGCGCG=0.0000, GCGCGCGCGCG=0.0000	1.0	0.0	N/A
Asian	Sub	104	GCGCG=1.000	G=0.000, GCG=0.000, GCGCGCG=0.000, GCGCGCGCG=0.000, GCGCGCGCGCG=0.000	1.0	0.0	N/A
East Asian	Sub	82	GCGCG=1.00	G=0.00, GCG=0.00, GCGCGCG=0.00, GCGCGCGCG=0.00, GCGCGCGCGCG=0.00	1.0	0.0	N/A
Other Asian	Sub	22	GCGCG=1.00	G=0.00, GCG=0.00, GCGCGCG=0.00, GCGCGCGCG=0.00, GCGCGCGCGCG=0.00	1.0	0.0	N/A
Latin American 1	Sub	146	GCGCG=1.000	G=0.000, GCG=0.000, GCGCGCG=0.000, GCGCGCGCG=0.000, GCGCGCGCGCG=0.000	1.0	0.0	N/A
Latin American 2	Sub	608	GCGCG=1.000	G=0.000, GCG=0.000, GCGCGCG=0.000, GCGCGCGCG=0.000, GCGCGCGCGCG=0.000	1.0	0.0	N/A
South Asian	Sub	92	GCGCG=1.00	G=0.00, GCG=0.00, GCGCGCG=0.00, GCGCGCGCG=0.00, GCGCGCGCGCG=0.00	1.0	0.0	N/A
Other	Sub	465	GCGCG=1.000	G=0.000, GCG=0.000, GCGCGCG=0.000, GCGCGCGCG=0.000, GCGCGCGCGCG=0.000	1.0	0.0	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	13971	GCGCG=0.99971	delCGCG=0.00000, delCG=0.00000, dupCG=0.00000, dupCGCG=0.00029, ins(CG)₃=0.00000
Allele Frequency Aggregator	European	Sub	9762	GCGCG=0.9996	delCGCG=0.0000, delCG=0.0000, dupCG=0.0000, dupCGCG=0.0004, ins(CG)₃=0.0000
Allele Frequency Aggregator	African	Sub	2794	GCGCG=1.0000	delCGCG=0.0000, delCG=0.0000, dupCG=0.0000, dupCGCG=0.0000, ins(CG)₃=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	608	GCGCG=1.000	delCGCG=0.000, delCG=0.000, dupCG=0.000, dupCGCG=0.000, ins(CG)₃=0.000
Allele Frequency Aggregator	Other	Sub	465	GCGCG=1.000	delCGCG=0.000, delCG=0.000, dupCG=0.000, dupCGCG=0.000, ins(CG)₃=0.000
Allele Frequency Aggregator	Latin American 1	Sub	146	GCGCG=1.000	delCGCG=0.000, delCG=0.000, dupCG=0.000, dupCGCG=0.000, ins(CG)₃=0.000
Allele Frequency Aggregator	Asian	Sub	104	GCGCG=1.000	delCGCG=0.000, delCG=0.000, dupCG=0.000, dupCGCG=0.000, ins(CG)₃=0.000
Allele Frequency Aggregator	South Asian	Sub	92	GCGCG=1.00	delCGCG=0.00, delCG=0.00, dupCG=0.00, dupCGCG=0.00, ins(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 2	NC_000002.12:g.159604953_159604956del
GRCh38.p14 chr 2	NC_000002.12:g.159604953CG[1]
GRCh38.p14 chr 2	NC_000002.12:g.159604953CG[3]
GRCh38.p14 chr 2	NC_000002.12:g.159604953CG[4]
GRCh38.p14 chr 2	NC_000002.12:g.159604953CG[5]
GRCh37.p13 chr 2	NC_000002.11:g.160461464_160461467del
GRCh37.p13 chr 2	NC_000002.11:g.160461464CG[1]
GRCh37.p13 chr 2	NC_000002.11:g.160461464CG[3]
GRCh37.p13 chr 2	NC_000002.11:g.160461464CG[4]
GRCh37.p13 chr 2	NC_000002.11:g.160461464CG[5]
BAZ2B RefSeqGene	NG_051314.1:g.112485_112488del
BAZ2B RefSeqGene	NG_051314.1:g.112485GC[1]
BAZ2B RefSeqGene	NG_051314.1:g.112485GC[3]
BAZ2B RefSeqGene	NG_051314.1:g.112485GC[4]
BAZ2B RefSeqGene	NG_051314.1:g.112485GC[5]

Gene: BAZ2B, bromodomain adjacent to zinc finger domain 2B (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
BAZ2B transcript variant 2	NM_001289975.1:c.-46+1128… NM_001289975.1:c.-46+11287_-46+11290del	N/A	Intron Variant
BAZ2B transcript variant 4	NM_001329857.2:c.-46+1128… NM_001329857.2:c.-46+11287_-46+11290del	N/A	Intron Variant
BAZ2B transcript variant 5	NM_001329858.2:c.-46+1043… NM_001329858.2:c.-46+10439_-46+10442del	N/A	Intron Variant
BAZ2B transcript variant 1	NM_013450.4:c.-46+11287_-… NM_013450.4:c.-46+11287_-46+11290del	N/A	Intron Variant
BAZ2B transcript variant 3	NR_110586.2:n.	N/A	Genic Downstream Transcript Variant
BAZ2B transcript variant X5	XM_005246488.3:c.-46+1043… XM_005246488.3:c.-46+10439_-46+10442del	N/A	Intron Variant
BAZ2B transcript variant X14	XM_017003920.2:c.-154+112… XM_017003920.2:c.-154+11287_-154+11290del	N/A	Intron Variant
BAZ2B transcript variant X3	XM_047444038.1:c.-46+1128… XM_047444038.1:c.-46+11287_-46+11290del	N/A	Intron Variant
BAZ2B transcript variant X4	XM_047444039.1:c.-46+1128… XM_047444039.1:c.-46+11287_-46+11290del	N/A	Intron Variant
BAZ2B transcript variant X6	XM_047444040.1:c.-46+1128… XM_047444040.1:c.-46+11287_-46+11290del	N/A	Intron Variant
BAZ2B transcript variant X7	XM_047444041.1:c.-46+1128… XM_047444041.1:c.-46+11287_-46+11290del	N/A	Intron Variant
BAZ2B transcript variant X8	XM_047444042.1:c.-46+1128… XM_047444042.1:c.-46+11287_-46+11290del	N/A	Intron Variant
BAZ2B transcript variant X9	XM_047444043.1:c.-46+1128… XM_047444043.1:c.-46+11287_-46+11290del	N/A	Intron Variant
BAZ2B transcript variant X10	XM_047444044.1:c.-46+1128… XM_047444044.1:c.-46+11287_-46+11290del	N/A	Intron Variant
BAZ2B transcript variant X11	XM_047444045.1:c.-46+1128… XM_047444045.1:c.-46+11287_-46+11290del	N/A	Intron Variant
BAZ2B transcript variant X12	XM_047444046.1:c.-46+1128… XM_047444046.1:c.-46+11287_-46+11290del	N/A	Intron Variant
BAZ2B transcript variant X13	XM_047444047.1:c.-46+1128… XM_047444047.1:c.-46+11287_-46+11290del	N/A	Intron Variant
BAZ2B transcript variant X15	XM_047444048.1:c.-3+10439… XM_047444048.1:c.-3+10439_-3+10442del	N/A	Intron Variant
BAZ2B transcript variant X24	XM_047444052.1:c.-46+1128… XM_047444052.1:c.-46+11287_-46+11290del	N/A	Intron Variant
BAZ2B transcript variant X29	XM_047444055.1:c.-46+1128… XM_047444055.1:c.-46+11287_-46+11290del	N/A	Intron Variant
BAZ2B transcript variant X41	XM_005246489.5:c.	N/A	Genic Upstream Transcript Variant
BAZ2B transcript variant X16	XM_005246492.5:c.	N/A	Genic Upstream Transcript Variant
BAZ2B transcript variant X1	XM_011511038.3:c.	N/A	Genic Upstream Transcript Variant
BAZ2B transcript variant X18	XM_011511042.1:c.	N/A	Genic Upstream Transcript Variant
BAZ2B transcript variant X22	XM_011511043.1:c.	N/A	Genic Upstream Transcript Variant
BAZ2B transcript variant X25	XM_011511044.1:c.	N/A	Genic Upstream Transcript Variant
BAZ2B transcript variant X27	XM_011511045.1:c.	N/A	Genic Upstream Transcript Variant
BAZ2B transcript variant X33	XM_011511050.1:c.	N/A	Genic Upstream Transcript Variant
BAZ2B transcript variant X34	XM_011511051.1:c.	N/A	Genic Upstream Transcript Variant
BAZ2B transcript variant X37	XM_011511052.1:c.	N/A	Genic Upstream Transcript Variant
BAZ2B transcript variant X45	XM_011511056.2:c.	N/A	Genic Upstream Transcript Variant
BAZ2B transcript variant X17	XM_017003923.1:c.	N/A	Genic Upstream Transcript Variant
BAZ2B transcript variant X20	XM_017003924.1:c.	N/A	Genic Upstream Transcript Variant
BAZ2B transcript variant X32	XM_017003930.2:c.	N/A	Genic Upstream Transcript Variant
BAZ2B transcript variant X2	XM_047444037.1:c.	N/A	Genic Upstream Transcript Variant
BAZ2B transcript variant X19	XM_047444049.1:c.	N/A	Genic Upstream Transcript Variant
BAZ2B transcript variant X21	XM_047444050.1:c.	N/A	Genic Upstream Transcript Variant
BAZ2B transcript variant X23	XM_047444051.1:c.	N/A	Genic Upstream Transcript Variant
BAZ2B transcript variant X26	XM_047444053.1:c.	N/A	Genic Upstream Transcript Variant
BAZ2B transcript variant X28	XM_047444054.1:c.	N/A	Genic Upstream Transcript Variant
BAZ2B transcript variant X30	XM_047444056.1:c.	N/A	Genic Upstream Transcript Variant
BAZ2B transcript variant X31	XM_047444057.1:c.	N/A	Genic Upstream Transcript Variant
BAZ2B transcript variant X35	XM_047444058.1:c.	N/A	Genic Upstream Transcript Variant
BAZ2B transcript variant X36	XM_047444059.1:c.	N/A	Genic Upstream Transcript Variant
BAZ2B transcript variant X38	XM_047444060.1:c.	N/A	Genic Upstream Transcript Variant
BAZ2B transcript variant X39	XM_047444061.1:c.	N/A	Genic Upstream Transcript Variant
BAZ2B transcript variant X40	XM_047444062.1:c.	N/A	Genic Upstream Transcript Variant
BAZ2B transcript variant X42	XM_047444063.1:c.	N/A	Genic Upstream Transcript Variant
BAZ2B transcript variant X43	XM_047444064.1:c.	N/A	Genic Upstream Transcript Variant
BAZ2B transcript variant X44	XM_047444065.1: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	GCGCG=	delCGCG	delCG	dupCG	dupCGCG	ins(CG)₃
GRCh38.p14 chr 2	NC_000002.12:g.159604952_159604956=	NC_000002.12:g.159604953_159604956del	NC_000002.12:g.159604953CG[1]	NC_000002.12:g.159604953CG[3]	NC_000002.12:g.159604953CG[4]	NC_000002.12:g.159604953CG[5]
GRCh37.p13 chr 2	NC_000002.11:g.160461463_160461467=	NC_000002.11:g.160461464_160461467del	NC_000002.11:g.160461464CG[1]	NC_000002.11:g.160461464CG[3]	NC_000002.11:g.160461464CG[4]	NC_000002.11:g.160461464CG[5]
BAZ2B RefSeqGene	NG_051314.1:g.112484_112488=	NG_051314.1:g.112485_112488del	NG_051314.1:g.112485GC[1]	NG_051314.1:g.112485GC[3]	NG_051314.1:g.112485GC[4]	NG_051314.1:g.112485GC[5]
BAZ2B transcript variant 2	NM_001289975.1:c.-46+11290=	NM_001289975.1:c.-46+11287_-46+11290del	NM_001289975.1:c.-46+11289_-46+11290del	NM_001289975.1:c.-46+11287GC[3]	NM_001289975.1:c.-46+11287GC[4]	NM_001289975.1:c.-46+11287GC[5]
BAZ2B transcript variant 4	NM_001329857.2:c.-46+11290=	NM_001329857.2:c.-46+11287_-46+11290del	NM_001329857.2:c.-46+11289_-46+11290del	NM_001329857.2:c.-46+11287GC[3]	NM_001329857.2:c.-46+11287GC[4]	NM_001329857.2:c.-46+11287GC[5]
BAZ2B transcript variant 5	NM_001329858.2:c.-46+10442=	NM_001329858.2:c.-46+10439_-46+10442del	NM_001329858.2:c.-46+10441_-46+10442del	NM_001329858.2:c.-46+10439GC[3]	NM_001329858.2:c.-46+10439GC[4]	NM_001329858.2:c.-46+10439GC[5]
BAZ2B transcript	NM_013450.2:c.-46+11290=	NM_013450.2:c.-46+11287_-46+11290del	NM_013450.2:c.-46+11289_-46+11290del	NM_013450.2:c.-46+11287GC[3]	NM_013450.2:c.-46+11287GC[4]	NM_013450.2:c.-46+11287GC[5]
BAZ2B transcript variant 1	NM_013450.4:c.-46+11290=	NM_013450.4:c.-46+11287_-46+11290del	NM_013450.4:c.-46+11289_-46+11290del	NM_013450.4:c.-46+11287GC[3]	NM_013450.4:c.-46+11287GC[4]	NM_013450.4:c.-46+11287GC[5]
BAZ2B transcript variant X1	XM_005246488.1:c.-46+10442=	XM_005246488.1:c.-46+10439_-46+10442del	XM_005246488.1:c.-46+10441_-46+10442del	XM_005246488.1:c.-46+10439GC[3]	XM_005246488.1:c.-46+10439GC[4]	XM_005246488.1:c.-46+10439GC[5]
BAZ2B transcript variant X5	XM_005246488.3:c.-46+10442=	XM_005246488.3:c.-46+10439_-46+10442del	XM_005246488.3:c.-46+10441_-46+10442del	XM_005246488.3:c.-46+10439GC[3]	XM_005246488.3:c.-46+10439GC[4]	XM_005246488.3:c.-46+10439GC[5]
BAZ2B transcript variant X3	XM_005246490.1:c.-46+11290=	XM_005246490.1:c.-46+11287_-46+11290del	XM_005246490.1:c.-46+11289_-46+11290del	XM_005246490.1:c.-46+11287GC[3]	XM_005246490.1:c.-46+11287GC[4]	XM_005246490.1:c.-46+11287GC[5]
BAZ2B transcript variant X4	XM_005246491.1:c.-46+11290=	XM_005246491.1:c.-46+11287_-46+11290del	XM_005246491.1:c.-46+11289_-46+11290del	XM_005246491.1:c.-46+11287GC[3]	XM_005246491.1:c.-46+11287GC[4]	XM_005246491.1:c.-46+11287GC[5]
BAZ2B transcript variant X6	XM_005246493.1:c.-46+11290=	XM_005246493.1:c.-46+11287_-46+11290del	XM_005246493.1:c.-46+11289_-46+11290del	XM_005246493.1:c.-46+11287GC[3]	XM_005246493.1:c.-46+11287GC[4]	XM_005246493.1:c.-46+11287GC[5]
BAZ2B transcript variant X7	XM_005246494.1:c.-46+11290=	XM_005246494.1:c.-46+11287_-46+11290del	XM_005246494.1:c.-46+11289_-46+11290del	XM_005246494.1:c.-46+11287GC[3]	XM_005246494.1:c.-46+11287GC[4]	XM_005246494.1:c.-46+11287GC[5]
BAZ2B transcript variant X8	XM_005246495.1:c.-46+11290=	XM_005246495.1:c.-46+11287_-46+11290del	XM_005246495.1:c.-46+11289_-46+11290del	XM_005246495.1:c.-46+11287GC[3]	XM_005246495.1:c.-46+11287GC[4]	XM_005246495.1:c.-46+11287GC[5]
BAZ2B transcript variant X9	XM_005246496.1:c.-46+11290=	XM_005246496.1:c.-46+11287_-46+11290del	XM_005246496.1:c.-46+11289_-46+11290del	XM_005246496.1:c.-46+11287GC[3]	XM_005246496.1:c.-46+11287GC[4]	XM_005246496.1:c.-46+11287GC[5]
BAZ2B transcript variant X10	XM_005246497.1:c.-46+11290=	XM_005246497.1:c.-46+11287_-46+11290del	XM_005246497.1:c.-46+11289_-46+11290del	XM_005246497.1:c.-46+11287GC[3]	XM_005246497.1:c.-46+11287GC[4]	XM_005246497.1:c.-46+11287GC[5]
BAZ2B transcript variant X11	XM_005246498.1:c.-46+11290=	XM_005246498.1:c.-46+11287_-46+11290del	XM_005246498.1:c.-46+11289_-46+11290del	XM_005246498.1:c.-46+11287GC[3]	XM_005246498.1:c.-46+11287GC[4]	XM_005246498.1:c.-46+11287GC[5]
BAZ2B transcript variant X12	XM_005246499.1:c.-46+11290=	XM_005246499.1:c.-46+11287_-46+11290del	XM_005246499.1:c.-46+11289_-46+11290del	XM_005246499.1:c.-46+11287GC[3]	XM_005246499.1:c.-46+11287GC[4]	XM_005246499.1:c.-46+11287GC[5]
BAZ2B transcript variant X13	XM_005246500.1:c.-46+11290=	XM_005246500.1:c.-46+11287_-46+11290del	XM_005246500.1:c.-46+11289_-46+11290del	XM_005246500.1:c.-46+11287GC[3]	XM_005246500.1:c.-46+11287GC[4]	XM_005246500.1:c.-46+11287GC[5]
BAZ2B transcript variant X14	XM_005246501.1:c.-46+11290=	XM_005246501.1:c.-46+11287_-46+11290del	XM_005246501.1:c.-46+11289_-46+11290del	XM_005246501.1:c.-46+11287GC[3]	XM_005246501.1:c.-46+11287GC[4]	XM_005246501.1:c.-46+11287GC[5]
BAZ2B transcript variant X15	XM_005246502.1:c.-46+11290=	XM_005246502.1:c.-46+11287_-46+11290del	XM_005246502.1:c.-46+11289_-46+11290del	XM_005246502.1:c.-46+11287GC[3]	XM_005246502.1:c.-46+11287GC[4]	XM_005246502.1:c.-46+11287GC[5]
BAZ2B transcript variant X14	XM_017003920.2:c.-154+11290=	XM_017003920.2:c.-154+11287_-154+11290del	XM_017003920.2:c.-154+11289_-154+11290del	XM_017003920.2:c.-154+11287GC[3]	XM_017003920.2:c.-154+11287GC[4]	XM_017003920.2:c.-154+11287GC[5]
BAZ2B transcript variant X3	XM_047444038.1:c.-46+11290=	XM_047444038.1:c.-46+11287_-46+11290del	XM_047444038.1:c.-46+11289_-46+11290del	XM_047444038.1:c.-46+11287GC[3]	XM_047444038.1:c.-46+11287GC[4]	XM_047444038.1:c.-46+11287GC[5]
BAZ2B transcript variant X4	XM_047444039.1:c.-46+11290=	XM_047444039.1:c.-46+11287_-46+11290del	XM_047444039.1:c.-46+11289_-46+11290del	XM_047444039.1:c.-46+11287GC[3]	XM_047444039.1:c.-46+11287GC[4]	XM_047444039.1:c.-46+11287GC[5]
BAZ2B transcript variant X6	XM_047444040.1:c.-46+11290=	XM_047444040.1:c.-46+11287_-46+11290del	XM_047444040.1:c.-46+11289_-46+11290del	XM_047444040.1:c.-46+11287GC[3]	XM_047444040.1:c.-46+11287GC[4]	XM_047444040.1:c.-46+11287GC[5]
BAZ2B transcript variant X7	XM_047444041.1:c.-46+11290=	XM_047444041.1:c.-46+11287_-46+11290del	XM_047444041.1:c.-46+11289_-46+11290del	XM_047444041.1:c.-46+11287GC[3]	XM_047444041.1:c.-46+11287GC[4]	XM_047444041.1:c.-46+11287GC[5]
BAZ2B transcript variant X8	XM_047444042.1:c.-46+11290=	XM_047444042.1:c.-46+11287_-46+11290del	XM_047444042.1:c.-46+11289_-46+11290del	XM_047444042.1:c.-46+11287GC[3]	XM_047444042.1:c.-46+11287GC[4]	XM_047444042.1:c.-46+11287GC[5]
BAZ2B transcript variant X9	XM_047444043.1:c.-46+11290=	XM_047444043.1:c.-46+11287_-46+11290del	XM_047444043.1:c.-46+11289_-46+11290del	XM_047444043.1:c.-46+11287GC[3]	XM_047444043.1:c.-46+11287GC[4]	XM_047444043.1:c.-46+11287GC[5]
BAZ2B transcript variant X10	XM_047444044.1:c.-46+11290=	XM_047444044.1:c.-46+11287_-46+11290del	XM_047444044.1:c.-46+11289_-46+11290del	XM_047444044.1:c.-46+11287GC[3]	XM_047444044.1:c.-46+11287GC[4]	XM_047444044.1:c.-46+11287GC[5]
BAZ2B transcript variant X11	XM_047444045.1:c.-46+11290=	XM_047444045.1:c.-46+11287_-46+11290del	XM_047444045.1:c.-46+11289_-46+11290del	XM_047444045.1:c.-46+11287GC[3]	XM_047444045.1:c.-46+11287GC[4]	XM_047444045.1:c.-46+11287GC[5]
BAZ2B transcript variant X12	XM_047444046.1:c.-46+11290=	XM_047444046.1:c.-46+11287_-46+11290del	XM_047444046.1:c.-46+11289_-46+11290del	XM_047444046.1:c.-46+11287GC[3]	XM_047444046.1:c.-46+11287GC[4]	XM_047444046.1:c.-46+11287GC[5]
BAZ2B transcript variant X13	XM_047444047.1:c.-46+11290=	XM_047444047.1:c.-46+11287_-46+11290del	XM_047444047.1:c.-46+11289_-46+11290del	XM_047444047.1:c.-46+11287GC[3]	XM_047444047.1:c.-46+11287GC[4]	XM_047444047.1:c.-46+11287GC[5]
BAZ2B transcript variant X15	XM_047444048.1:c.-3+10442=	XM_047444048.1:c.-3+10439_-3+10442del	XM_047444048.1:c.-3+10441_-3+10442del	XM_047444048.1:c.-3+10439GC[3]	XM_047444048.1:c.-3+10439GC[4]	XM_047444048.1:c.-3+10439GC[5]
BAZ2B transcript variant X24	XM_047444052.1:c.-46+11290=	XM_047444052.1:c.-46+11287_-46+11290del	XM_047444052.1:c.-46+11289_-46+11290del	XM_047444052.1:c.-46+11287GC[3]	XM_047444052.1:c.-46+11287GC[4]	XM_047444052.1:c.-46+11287GC[5]
BAZ2B transcript variant X29	XM_047444055.1:c.-46+11290=	XM_047444055.1:c.-46+11287_-46+11290del	XM_047444055.1:c.-46+11289_-46+11290del	XM_047444055.1:c.-46+11287GC[3]	XM_047444055.1:c.-46+11287GC[4]	XM_047444055.1:c.-46+11287GC[5]

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#.

7 SubSNP, 5 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ABI	ss41838255	Apr 25, 2013 (138)
2	HUMANGENOME_JCVI	ss95973108	Feb 04, 2009 (130)
3	GNOMAD	ss4054201392	Apr 26, 2021 (155)
4	GNOMAD	ss4054201393	Apr 26, 2021 (155)
5	GNOMAD	ss4054201408	Apr 26, 2021 (155)
6	GNOMAD	ss4054201409	Apr 26, 2021 (155)
7	1000G_HIGH_COVERAGE	ss5250691282	Oct 17, 2022 (156)
8	gnomAD - Genomes Submission ignored due to conflicting rows: Row 79509434 (NC_000002.12:159604951::GC 26/132764) Row 79509435 (NC_000002.12:159604951::GCGC 38/132760) Row 79509450 (NC_000002.12:159604951:GC: 7/132762)...	-	Apr 26, 2021 (155)
9	gnomAD - Genomes Submission ignored due to conflicting rows: Row 79509434 (NC_000002.12:159604951::GC 26/132764) Row 79509435 (NC_000002.12:159604951::GCGC 38/132760) Row 79509450 (NC_000002.12:159604951:GC: 7/132762)...	-	Apr 26, 2021 (155)
10	gnomAD - Genomes Submission ignored due to conflicting rows: Row 79509434 (NC_000002.12:159604951::GC 26/132764) Row 79509435 (NC_000002.12:159604951::GCGC 38/132760) Row 79509450 (NC_000002.12:159604951:GC: 7/132762)...	-	Apr 26, 2021 (155)
11	gnomAD - Genomes Submission ignored due to conflicting rows: Row 79509434 (NC_000002.12:159604951::GC 26/132764) Row 79509435 (NC_000002.12:159604951::GCGC 38/132760) Row 79509450 (NC_000002.12:159604951:GC: 7/132762)...	-	Apr 26, 2021 (155)
12	ALFA	NC_000002.12 - 159604952	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
ss4054201409	NC_000002.12:159604951:GCGC:	NC_000002.12:159604951:GCGCG:G	(self)
1920489806	NC_000002.12:159604951:GCGCG:G	NC_000002.12:159604951:GCGCG:G	(self)
ss4054201408	NC_000002.12:159604951:GC:	NC_000002.12:159604951:GCGCG:GCG	(self)
1920489806	NC_000002.12:159604951:GCGCG:GCG	NC_000002.12:159604951:GCGCG:GCG	(self)
ss4054201392, ss5250691282	NC_000002.12:159604951::GC	NC_000002.12:159604951:GCGCG:GCGCG… NC_000002.12:159604951:GCGCG:GCGCGCG	(self)
1920489806	NC_000002.12:159604951:GCGCG:GCGCG… NC_000002.12:159604951:GCGCG:GCGCGCG	NC_000002.12:159604951:GCGCG:GCGCG… NC_000002.12:159604951:GCGCG:GCGCGCG	(self)
ss41838255	NT_005403.17:10670880::GC	NC_000002.12:159604951:GCGCG:GCGCG… NC_000002.12:159604951:GCGCG:GCGCGCG	(self)
ss95973108	NT_005403.17:10670881:C:CGC	NC_000002.12:159604951:GCGCG:GCGCG… NC_000002.12:159604951:GCGCG:GCGCGCG	(self)
ss4054201393	NC_000002.12:159604951::GCGC	NC_000002.12:159604951:GCGCG:GCGCG… NC_000002.12:159604951:GCGCG:GCGCGCGCG	(self)
1920489806	NC_000002.12:159604951:GCGCG:GCGCG… NC_000002.12:159604951:GCGCG:GCGCGCGCG	NC_000002.12:159604951:GCGCG:GCGCG… NC_000002.12:159604951:GCGCG:GCGCGCGCG	(self)
1920489806	NC_000002.12:159604951:GCGCG:GCGCG… NC_000002.12:159604951:GCGCG:GCGCGCGCGCG	NC_000002.12:159604951:GCGCG:GCGCG… NC_000002.12:159604951:GCGCG:GCGCGCGCGCG	(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 rs66698312

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.
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

rs66698312