Name: rs768099248
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.

rs768099248

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr2:159704483-159704499 (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(T)₁₃ / del(T)₈ / del(T)₇ / del…
del(T)₁₃ / del(T)₈ / del(T)₇ / del(T)₆ / delTTT / delTT / delT / dupT / dupTT / dupTTT / dup(T)₄ / dup(T)₅ / dup(T)₆ / dup(T)₇ / dup(T)₈ / dup(T)₉ / dup(T)₁₀ / dup(T)₁₁ / dup(T)₁₃
Variation Type: Indel Insertion and Deletion
Frequency: del(T)₁₃=0.000011 (3/264690, TOPMED)
dupT=0.08799 (1246/14160, 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	Alt HMOZ	HTRZ	HWEP
Total	Global	14160	TTTTTTTTTTTTTTTTT=0.90939	TTTT=0.00000, TTTTTTTTT=0.00000, TTTTTTTTTT=0.00000, TTTTTTTTTTT=0.00000, TTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTT=0.08799, TTTTTTTTTTTTTTTTTTTTTTTT=0.00106, TTTTTTTTTTTTTTTTTTT=0.00092, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00035, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00028, TTTTTTTTTTTTTTTTTTTT=0.00000	0.866875	0.041726	0.091399	32
European	Sub	11658	TTTTTTTTTTTTTTTTT=0.89029	TTTT=0.00000, TTTTTTTTT=0.00000, TTTTTTTTTT=0.00000, TTTTTTTTTTT=0.00000, TTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTT=0.10654, TTTTTTTTTTTTTTTTTTTTTTTT=0.00129, TTTTTTTTTTTTTTTTTTT=0.00112, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00043, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00034, TTTTTTTTTTTTTTTTTTTT=0.00000	0.838654	0.050561	0.110785	32
African	Sub	1486	TTTTTTTTTTTTTTTTT=1.0000	TTTT=0.0000, TTTTTTTTT=0.0000, TTTTTTTTTT=0.0000, TTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000	1.0	0.0	0.0	N/A
African Others	Sub	56	TTTTTTTTTTTTTTTTT=1.00	TTTT=0.00, TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
African American	Sub	1430	TTTTTTTTTTTTTTTTT=1.0000	TTTT=0.0000, TTTTTTTTT=0.0000, TTTTTTTTTT=0.0000, TTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000	1.0	0.0	0.0	N/A
Asian	Sub	82	TTTTTTTTTTTTTTTTT=1.00	TTTT=0.00, TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	58	TTTTTTTTTTTTTTTTT=1.00	TTTT=0.00, TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	24	TTTTTTTTTTTTTTTTT=1.00	TTTT=0.00, TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	102	TTTTTTTTTTTTTTTTT=1.000	TTTT=0.000, TTTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
Latin American 2	Sub	440	TTTTTTTTTTTTTTTTT=1.000	TTTT=0.000, TTTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	64	TTTTTTTTTTTTTTTTT=1.00	TTTT=0.00, TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other	Sub	328	TTTTTTTTTTTTTTTTT=0.988	TTTT=0.000, TTTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.012, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000	0.981707	0.006098	0.012195	22

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	(T)₁₇=0.999989	del(T)₁₃=0.000011
Allele Frequency Aggregator	Total	Global	14160	(T)₁₇=0.90939	del(T)₁₃=0.00000, del(T)₈=0.00000, del(T)₇=0.00000, del(T)₆=0.00000, delTTT=0.00000, delTT=0.00000, delT=0.00000, dupT=0.08799, dupTT=0.00092, dupTTT=0.00000, dup(T)₇=0.00106, dup(T)₈=0.00028, dup(T)₁₁=0.00035
Allele Frequency Aggregator	European	Sub	11658	(T)₁₇=0.89029	del(T)₁₃=0.00000, del(T)₈=0.00000, del(T)₇=0.00000, del(T)₆=0.00000, delTTT=0.00000, delTT=0.00000, delT=0.00000, dupT=0.10654, dupTT=0.00112, dupTTT=0.00000, dup(T)₇=0.00129, dup(T)₈=0.00034, dup(T)₁₁=0.00043
Allele Frequency Aggregator	African	Sub	1486	(T)₁₇=1.0000	del(T)₁₃=0.0000, del(T)₈=0.0000, del(T)₇=0.0000, del(T)₆=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0000, dupTT=0.0000, dupTTT=0.0000, dup(T)₇=0.0000, dup(T)₈=0.0000, dup(T)₁₁=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	440	(T)₁₇=1.000	del(T)₁₃=0.000, del(T)₈=0.000, del(T)₇=0.000, del(T)₆=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₇=0.000, dup(T)₈=0.000, dup(T)₁₁=0.000
Allele Frequency Aggregator	Other	Sub	328	(T)₁₇=0.988	del(T)₁₃=0.000, del(T)₈=0.000, del(T)₇=0.000, del(T)₆=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.012, dupTT=0.000, dupTTT=0.000, dup(T)₇=0.000, dup(T)₈=0.000, dup(T)₁₁=0.000
Allele Frequency Aggregator	Latin American 1	Sub	102	(T)₁₇=1.000	del(T)₁₃=0.000, del(T)₈=0.000, del(T)₇=0.000, del(T)₆=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₇=0.000, dup(T)₈=0.000, dup(T)₁₁=0.000
Allele Frequency Aggregator	Asian	Sub	82	(T)₁₇=1.00	del(T)₁₃=0.00, del(T)₈=0.00, del(T)₇=0.00, del(T)₆=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₇=0.00, dup(T)₈=0.00, dup(T)₁₁=0.00
Allele Frequency Aggregator	South Asian	Sub	64	(T)₁₇=1.00	del(T)₁₃=0.00, del(T)₈=0.00, del(T)₇=0.00, del(T)₆=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₇=0.00, dup(T)₈=0.00, dup(T)₁₁=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.159704487_159704499del
GRCh38.p14 chr 2	NC_000002.12:g.159704492_159704499del
GRCh38.p14 chr 2	NC_000002.12:g.159704493_159704499del
GRCh38.p14 chr 2	NC_000002.12:g.159704494_159704499del
GRCh38.p14 chr 2	NC_000002.12:g.159704497_159704499del
GRCh38.p14 chr 2	NC_000002.12:g.159704498_159704499del
GRCh38.p14 chr 2	NC_000002.12:g.159704499del
GRCh38.p14 chr 2	NC_000002.12:g.159704499dup
GRCh38.p14 chr 2	NC_000002.12:g.159704498_159704499dup
GRCh38.p14 chr 2	NC_000002.12:g.159704497_159704499dup
GRCh38.p14 chr 2	NC_000002.12:g.159704496_159704499dup
GRCh38.p14 chr 2	NC_000002.12:g.159704495_159704499dup
GRCh38.p14 chr 2	NC_000002.12:g.159704494_159704499dup
GRCh38.p14 chr 2	NC_000002.12:g.159704493_159704499dup
GRCh38.p14 chr 2	NC_000002.12:g.159704492_159704499dup
GRCh38.p14 chr 2	NC_000002.12:g.159704491_159704499dup
GRCh38.p14 chr 2	NC_000002.12:g.159704490_159704499dup
GRCh38.p14 chr 2	NC_000002.12:g.159704489_159704499dup
GRCh38.p14 chr 2	NC_000002.12:g.159704487_159704499dup
GRCh37.p13 chr 2	NC_000002.11:g.160560998_160561010del
GRCh37.p13 chr 2	NC_000002.11:g.160561003_160561010del
GRCh37.p13 chr 2	NC_000002.11:g.160561004_160561010del
GRCh37.p13 chr 2	NC_000002.11:g.160561005_160561010del
GRCh37.p13 chr 2	NC_000002.11:g.160561008_160561010del
GRCh37.p13 chr 2	NC_000002.11:g.160561009_160561010del
GRCh37.p13 chr 2	NC_000002.11:g.160561010del
GRCh37.p13 chr 2	NC_000002.11:g.160561010dup
GRCh37.p13 chr 2	NC_000002.11:g.160561009_160561010dup
GRCh37.p13 chr 2	NC_000002.11:g.160561008_160561010dup
GRCh37.p13 chr 2	NC_000002.11:g.160561007_160561010dup
GRCh37.p13 chr 2	NC_000002.11:g.160561006_160561010dup
GRCh37.p13 chr 2	NC_000002.11:g.160561005_160561010dup
GRCh37.p13 chr 2	NC_000002.11:g.160561004_160561010dup
GRCh37.p13 chr 2	NC_000002.11:g.160561003_160561010dup
GRCh37.p13 chr 2	NC_000002.11:g.160561002_160561010dup
GRCh37.p13 chr 2	NC_000002.11:g.160561001_160561010dup
GRCh37.p13 chr 2	NC_000002.11:g.160561000_160561010dup
GRCh37.p13 chr 2	NC_000002.11:g.160560998_160561010dup
BAZ2B RefSeqGene	NG_051314.1:g.12945_12957del
BAZ2B RefSeqGene	NG_051314.1:g.12950_12957del
BAZ2B RefSeqGene	NG_051314.1:g.12951_12957del
BAZ2B RefSeqGene	NG_051314.1:g.12952_12957del
BAZ2B RefSeqGene	NG_051314.1:g.12955_12957del
BAZ2B RefSeqGene	NG_051314.1:g.12956_12957del
BAZ2B RefSeqGene	NG_051314.1:g.12957del
BAZ2B RefSeqGene	NG_051314.1:g.12957dup
BAZ2B RefSeqGene	NG_051314.1:g.12956_12957dup
BAZ2B RefSeqGene	NG_051314.1:g.12955_12957dup
BAZ2B RefSeqGene	NG_051314.1:g.12954_12957dup
BAZ2B RefSeqGene	NG_051314.1:g.12953_12957dup
BAZ2B RefSeqGene	NG_051314.1:g.12952_12957dup
BAZ2B RefSeqGene	NG_051314.1:g.12951_12957dup
BAZ2B RefSeqGene	NG_051314.1:g.12950_12957dup
BAZ2B RefSeqGene	NG_051314.1:g.12949_12957dup
BAZ2B RefSeqGene	NG_051314.1:g.12948_12957dup
BAZ2B RefSeqGene	NG_051314.1:g.12947_12957dup
BAZ2B RefSeqGene	NG_051314.1:g.12945_12957dup

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.	N/A	Genic Upstream Transcript Variant
BAZ2B transcript variant 4	NM_001329857.2:c.	N/A	Genic Upstream Transcript Variant
BAZ2B transcript variant 5	NM_001329858.2:c.	N/A	Genic Upstream Transcript Variant
BAZ2B transcript variant 1	NM_013450.4:c.	N/A	Genic Upstream Transcript Variant
BAZ2B transcript variant 3	NR_110586.2:n.	N/A	Intron Variant
BAZ2B transcript variant X14	XM_017003920.2:c.-756+622… XM_017003920.2:c.-756+6222_-756+6234del	N/A	Intron Variant
BAZ2B transcript variant X3	XM_047444038.1:c.-648+622… XM_047444038.1:c.-648+6222_-648+6234del	N/A	Intron Variant
BAZ2B transcript variant X4	XM_047444039.1:c.-651+622… XM_047444039.1:c.-651+6222_-651+6234del	N/A	Intron Variant
BAZ2B transcript variant X6	XM_047444040.1:c.-548+622… XM_047444040.1:c.-548+6222_-548+6234del	N/A	Intron Variant
BAZ2B transcript variant X7	XM_047444041.1:c.-651+622… XM_047444041.1:c.-651+6222_-651+6234del	N/A	Intron Variant
BAZ2B transcript variant X8	XM_047444042.1:c.-654+622… XM_047444042.1:c.-654+6222_-654+6234del	N/A	Intron Variant
BAZ2B transcript variant X9	XM_047444043.1:c.-582+622… XM_047444043.1:c.-582+6222_-582+6234del	N/A	Intron Variant
BAZ2B transcript variant X10	XM_047444044.1:c.-509+622… XM_047444044.1:c.-509+6222_-509+6234del	N/A	Intron Variant
BAZ2B transcript variant X11	XM_047444045.1:c.-512+622… XM_047444045.1:c.-512+6222_-512+6234del	N/A	Intron Variant
BAZ2B transcript variant X12	XM_047444046.1:c.-545+622… XM_047444046.1:c.-545+6222_-545+6234del	N/A	Intron Variant
BAZ2B transcript variant X13	XM_047444047.1:c.-479+622… XM_047444047.1:c.-479+6222_-479+6234del	N/A	Intron Variant
BAZ2B transcript variant X15	XM_047444048.1:c.-1453+62… XM_047444048.1:c.-1453+6222_-1453+6234del	N/A	Intron Variant
BAZ2B transcript variant X24	XM_047444052.1:c.-648+622… XM_047444052.1:c.-648+6222_-648+6234del	N/A	Intron Variant
BAZ2B transcript variant X29	XM_047444055.1:c.-648+622… XM_047444055.1:c.-648+6222_-648+6234del	N/A	Intron Variant
BAZ2B transcript variant X5	XM_005246488.3:c.	N/A	Genic Upstream Transcript 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	(T)₁₇=	del(T)₁₃	del(T)₈	del(T)₇	del(T)₆	delTTT	delTT	delT	dupT	dupTT	dupTTT	dup(T)₄	dup(T)₅	dup(T)₆	dup(T)₇	dup(T)₈	dup(T)₉	dup(T)₁₀	dup(T)₁₁	dup(T)₁₃
GRCh38.p14 chr 2	NC_000002.12:g.159704483_159704499=	NC_000002.12:g.159704487_159704499del	NC_000002.12:g.159704492_159704499del	NC_000002.12:g.159704493_159704499del	NC_000002.12:g.159704494_159704499del	NC_000002.12:g.159704497_159704499del	NC_000002.12:g.159704498_159704499del	NC_000002.12:g.159704499del	NC_000002.12:g.159704499dup	NC_000002.12:g.159704498_159704499dup	NC_000002.12:g.159704497_159704499dup	NC_000002.12:g.159704496_159704499dup	NC_000002.12:g.159704495_159704499dup	NC_000002.12:g.159704494_159704499dup	NC_000002.12:g.159704493_159704499dup	NC_000002.12:g.159704492_159704499dup	NC_000002.12:g.159704491_159704499dup	NC_000002.12:g.159704490_159704499dup	NC_000002.12:g.159704489_159704499dup	NC_000002.12:g.159704487_159704499dup
GRCh37.p13 chr 2	NC_000002.11:g.160560994_160561010=	NC_000002.11:g.160560998_160561010del	NC_000002.11:g.160561003_160561010del	NC_000002.11:g.160561004_160561010del	NC_000002.11:g.160561005_160561010del	NC_000002.11:g.160561008_160561010del	NC_000002.11:g.160561009_160561010del	NC_000002.11:g.160561010del	NC_000002.11:g.160561010dup	NC_000002.11:g.160561009_160561010dup	NC_000002.11:g.160561008_160561010dup	NC_000002.11:g.160561007_160561010dup	NC_000002.11:g.160561006_160561010dup	NC_000002.11:g.160561005_160561010dup	NC_000002.11:g.160561004_160561010dup	NC_000002.11:g.160561003_160561010dup	NC_000002.11:g.160561002_160561010dup	NC_000002.11:g.160561001_160561010dup	NC_000002.11:g.160561000_160561010dup	NC_000002.11:g.160560998_160561010dup
BAZ2B RefSeqGene	NG_051314.1:g.12941_12957=	NG_051314.1:g.12945_12957del	NG_051314.1:g.12950_12957del	NG_051314.1:g.12951_12957del	NG_051314.1:g.12952_12957del	NG_051314.1:g.12955_12957del	NG_051314.1:g.12956_12957del	NG_051314.1:g.12957del	NG_051314.1:g.12957dup	NG_051314.1:g.12956_12957dup	NG_051314.1:g.12955_12957dup	NG_051314.1:g.12954_12957dup	NG_051314.1:g.12953_12957dup	NG_051314.1:g.12952_12957dup	NG_051314.1:g.12951_12957dup	NG_051314.1:g.12950_12957dup	NG_051314.1:g.12949_12957dup	NG_051314.1:g.12948_12957dup	NG_051314.1:g.12947_12957dup	NG_051314.1:g.12945_12957dup
BAZ2B transcript variant X14	XM_017003920.2:c.-756+6234=	XM_017003920.2:c.-756+6222_-756+6234del	XM_017003920.2:c.-756+6227_-756+6234del	XM_017003920.2:c.-756+6228_-756+6234del	XM_017003920.2:c.-756+6229_-756+6234del	XM_017003920.2:c.-756+6232_-756+6234del	XM_017003920.2:c.-756+6233_-756+6234del	XM_017003920.2:c.-756+6234del	XM_017003920.2:c.-756+6234dup	XM_017003920.2:c.-756+6233_-756+6234dup	XM_017003920.2:c.-756+6232_-756+6234dup	XM_017003920.2:c.-756+6231_-756+6234dup	XM_017003920.2:c.-756+6230_-756+6234dup	XM_017003920.2:c.-756+6229_-756+6234dup	XM_017003920.2:c.-756+6228_-756+6234dup	XM_017003920.2:c.-756+6227_-756+6234dup	XM_017003920.2:c.-756+6226_-756+6234dup	XM_017003920.2:c.-756+6225_-756+6234dup	XM_017003920.2:c.-756+6224_-756+6234dup	XM_017003920.2:c.-756+6222_-756+6234dup
BAZ2B transcript variant X3	XM_047444038.1:c.-648+6234=	XM_047444038.1:c.-648+6222_-648+6234del	XM_047444038.1:c.-648+6227_-648+6234del	XM_047444038.1:c.-648+6228_-648+6234del	XM_047444038.1:c.-648+6229_-648+6234del	XM_047444038.1:c.-648+6232_-648+6234del	XM_047444038.1:c.-648+6233_-648+6234del	XM_047444038.1:c.-648+6234del	XM_047444038.1:c.-648+6234dup	XM_047444038.1:c.-648+6233_-648+6234dup	XM_047444038.1:c.-648+6232_-648+6234dup	XM_047444038.1:c.-648+6231_-648+6234dup	XM_047444038.1:c.-648+6230_-648+6234dup	XM_047444038.1:c.-648+6229_-648+6234dup	XM_047444038.1:c.-648+6228_-648+6234dup	XM_047444038.1:c.-648+6227_-648+6234dup	XM_047444038.1:c.-648+6226_-648+6234dup	XM_047444038.1:c.-648+6225_-648+6234dup	XM_047444038.1:c.-648+6224_-648+6234dup	XM_047444038.1:c.-648+6222_-648+6234dup
BAZ2B transcript variant X4	XM_047444039.1:c.-651+6234=	XM_047444039.1:c.-651+6222_-651+6234del	XM_047444039.1:c.-651+6227_-651+6234del	XM_047444039.1:c.-651+6228_-651+6234del	XM_047444039.1:c.-651+6229_-651+6234del	XM_047444039.1:c.-651+6232_-651+6234del	XM_047444039.1:c.-651+6233_-651+6234del	XM_047444039.1:c.-651+6234del	XM_047444039.1:c.-651+6234dup	XM_047444039.1:c.-651+6233_-651+6234dup	XM_047444039.1:c.-651+6232_-651+6234dup	XM_047444039.1:c.-651+6231_-651+6234dup	XM_047444039.1:c.-651+6230_-651+6234dup	XM_047444039.1:c.-651+6229_-651+6234dup	XM_047444039.1:c.-651+6228_-651+6234dup	XM_047444039.1:c.-651+6227_-651+6234dup	XM_047444039.1:c.-651+6226_-651+6234dup	XM_047444039.1:c.-651+6225_-651+6234dup	XM_047444039.1:c.-651+6224_-651+6234dup	XM_047444039.1:c.-651+6222_-651+6234dup
BAZ2B transcript variant X6	XM_047444040.1:c.-548+6234=	XM_047444040.1:c.-548+6222_-548+6234del	XM_047444040.1:c.-548+6227_-548+6234del	XM_047444040.1:c.-548+6228_-548+6234del	XM_047444040.1:c.-548+6229_-548+6234del	XM_047444040.1:c.-548+6232_-548+6234del	XM_047444040.1:c.-548+6233_-548+6234del	XM_047444040.1:c.-548+6234del	XM_047444040.1:c.-548+6234dup	XM_047444040.1:c.-548+6233_-548+6234dup	XM_047444040.1:c.-548+6232_-548+6234dup	XM_047444040.1:c.-548+6231_-548+6234dup	XM_047444040.1:c.-548+6230_-548+6234dup	XM_047444040.1:c.-548+6229_-548+6234dup	XM_047444040.1:c.-548+6228_-548+6234dup	XM_047444040.1:c.-548+6227_-548+6234dup	XM_047444040.1:c.-548+6226_-548+6234dup	XM_047444040.1:c.-548+6225_-548+6234dup	XM_047444040.1:c.-548+6224_-548+6234dup	XM_047444040.1:c.-548+6222_-548+6234dup
BAZ2B transcript variant X7	XM_047444041.1:c.-651+6234=	XM_047444041.1:c.-651+6222_-651+6234del	XM_047444041.1:c.-651+6227_-651+6234del	XM_047444041.1:c.-651+6228_-651+6234del	XM_047444041.1:c.-651+6229_-651+6234del	XM_047444041.1:c.-651+6232_-651+6234del	XM_047444041.1:c.-651+6233_-651+6234del	XM_047444041.1:c.-651+6234del	XM_047444041.1:c.-651+6234dup	XM_047444041.1:c.-651+6233_-651+6234dup	XM_047444041.1:c.-651+6232_-651+6234dup	XM_047444041.1:c.-651+6231_-651+6234dup	XM_047444041.1:c.-651+6230_-651+6234dup	XM_047444041.1:c.-651+6229_-651+6234dup	XM_047444041.1:c.-651+6228_-651+6234dup	XM_047444041.1:c.-651+6227_-651+6234dup	XM_047444041.1:c.-651+6226_-651+6234dup	XM_047444041.1:c.-651+6225_-651+6234dup	XM_047444041.1:c.-651+6224_-651+6234dup	XM_047444041.1:c.-651+6222_-651+6234dup
BAZ2B transcript variant X8	XM_047444042.1:c.-654+6234=	XM_047444042.1:c.-654+6222_-654+6234del	XM_047444042.1:c.-654+6227_-654+6234del	XM_047444042.1:c.-654+6228_-654+6234del	XM_047444042.1:c.-654+6229_-654+6234del	XM_047444042.1:c.-654+6232_-654+6234del	XM_047444042.1:c.-654+6233_-654+6234del	XM_047444042.1:c.-654+6234del	XM_047444042.1:c.-654+6234dup	XM_047444042.1:c.-654+6233_-654+6234dup	XM_047444042.1:c.-654+6232_-654+6234dup	XM_047444042.1:c.-654+6231_-654+6234dup	XM_047444042.1:c.-654+6230_-654+6234dup	XM_047444042.1:c.-654+6229_-654+6234dup	XM_047444042.1:c.-654+6228_-654+6234dup	XM_047444042.1:c.-654+6227_-654+6234dup	XM_047444042.1:c.-654+6226_-654+6234dup	XM_047444042.1:c.-654+6225_-654+6234dup	XM_047444042.1:c.-654+6224_-654+6234dup	XM_047444042.1:c.-654+6222_-654+6234dup
BAZ2B transcript variant X9	XM_047444043.1:c.-582+6234=	XM_047444043.1:c.-582+6222_-582+6234del	XM_047444043.1:c.-582+6227_-582+6234del	XM_047444043.1:c.-582+6228_-582+6234del	XM_047444043.1:c.-582+6229_-582+6234del	XM_047444043.1:c.-582+6232_-582+6234del	XM_047444043.1:c.-582+6233_-582+6234del	XM_047444043.1:c.-582+6234del	XM_047444043.1:c.-582+6234dup	XM_047444043.1:c.-582+6233_-582+6234dup	XM_047444043.1:c.-582+6232_-582+6234dup	XM_047444043.1:c.-582+6231_-582+6234dup	XM_047444043.1:c.-582+6230_-582+6234dup	XM_047444043.1:c.-582+6229_-582+6234dup	XM_047444043.1:c.-582+6228_-582+6234dup	XM_047444043.1:c.-582+6227_-582+6234dup	XM_047444043.1:c.-582+6226_-582+6234dup	XM_047444043.1:c.-582+6225_-582+6234dup	XM_047444043.1:c.-582+6224_-582+6234dup	XM_047444043.1:c.-582+6222_-582+6234dup
BAZ2B transcript variant X10	XM_047444044.1:c.-509+6234=	XM_047444044.1:c.-509+6222_-509+6234del	XM_047444044.1:c.-509+6227_-509+6234del	XM_047444044.1:c.-509+6228_-509+6234del	XM_047444044.1:c.-509+6229_-509+6234del	XM_047444044.1:c.-509+6232_-509+6234del	XM_047444044.1:c.-509+6233_-509+6234del	XM_047444044.1:c.-509+6234del	XM_047444044.1:c.-509+6234dup	XM_047444044.1:c.-509+6233_-509+6234dup	XM_047444044.1:c.-509+6232_-509+6234dup	XM_047444044.1:c.-509+6231_-509+6234dup	XM_047444044.1:c.-509+6230_-509+6234dup	XM_047444044.1:c.-509+6229_-509+6234dup	XM_047444044.1:c.-509+6228_-509+6234dup	XM_047444044.1:c.-509+6227_-509+6234dup	XM_047444044.1:c.-509+6226_-509+6234dup	XM_047444044.1:c.-509+6225_-509+6234dup	XM_047444044.1:c.-509+6224_-509+6234dup	XM_047444044.1:c.-509+6222_-509+6234dup
BAZ2B transcript variant X11	XM_047444045.1:c.-512+6234=	XM_047444045.1:c.-512+6222_-512+6234del	XM_047444045.1:c.-512+6227_-512+6234del	XM_047444045.1:c.-512+6228_-512+6234del	XM_047444045.1:c.-512+6229_-512+6234del	XM_047444045.1:c.-512+6232_-512+6234del	XM_047444045.1:c.-512+6233_-512+6234del	XM_047444045.1:c.-512+6234del	XM_047444045.1:c.-512+6234dup	XM_047444045.1:c.-512+6233_-512+6234dup	XM_047444045.1:c.-512+6232_-512+6234dup	XM_047444045.1:c.-512+6231_-512+6234dup	XM_047444045.1:c.-512+6230_-512+6234dup	XM_047444045.1:c.-512+6229_-512+6234dup	XM_047444045.1:c.-512+6228_-512+6234dup	XM_047444045.1:c.-512+6227_-512+6234dup	XM_047444045.1:c.-512+6226_-512+6234dup	XM_047444045.1:c.-512+6225_-512+6234dup	XM_047444045.1:c.-512+6224_-512+6234dup	XM_047444045.1:c.-512+6222_-512+6234dup
BAZ2B transcript variant X12	XM_047444046.1:c.-545+6234=	XM_047444046.1:c.-545+6222_-545+6234del	XM_047444046.1:c.-545+6227_-545+6234del	XM_047444046.1:c.-545+6228_-545+6234del	XM_047444046.1:c.-545+6229_-545+6234del	XM_047444046.1:c.-545+6232_-545+6234del	XM_047444046.1:c.-545+6233_-545+6234del	XM_047444046.1:c.-545+6234del	XM_047444046.1:c.-545+6234dup	XM_047444046.1:c.-545+6233_-545+6234dup	XM_047444046.1:c.-545+6232_-545+6234dup	XM_047444046.1:c.-545+6231_-545+6234dup	XM_047444046.1:c.-545+6230_-545+6234dup	XM_047444046.1:c.-545+6229_-545+6234dup	XM_047444046.1:c.-545+6228_-545+6234dup	XM_047444046.1:c.-545+6227_-545+6234dup	XM_047444046.1:c.-545+6226_-545+6234dup	XM_047444046.1:c.-545+6225_-545+6234dup	XM_047444046.1:c.-545+6224_-545+6234dup	XM_047444046.1:c.-545+6222_-545+6234dup
BAZ2B transcript variant X13	XM_047444047.1:c.-479+6234=	XM_047444047.1:c.-479+6222_-479+6234del	XM_047444047.1:c.-479+6227_-479+6234del	XM_047444047.1:c.-479+6228_-479+6234del	XM_047444047.1:c.-479+6229_-479+6234del	XM_047444047.1:c.-479+6232_-479+6234del	XM_047444047.1:c.-479+6233_-479+6234del	XM_047444047.1:c.-479+6234del	XM_047444047.1:c.-479+6234dup	XM_047444047.1:c.-479+6233_-479+6234dup	XM_047444047.1:c.-479+6232_-479+6234dup	XM_047444047.1:c.-479+6231_-479+6234dup	XM_047444047.1:c.-479+6230_-479+6234dup	XM_047444047.1:c.-479+6229_-479+6234dup	XM_047444047.1:c.-479+6228_-479+6234dup	XM_047444047.1:c.-479+6227_-479+6234dup	XM_047444047.1:c.-479+6226_-479+6234dup	XM_047444047.1:c.-479+6225_-479+6234dup	XM_047444047.1:c.-479+6224_-479+6234dup	XM_047444047.1:c.-479+6222_-479+6234dup
BAZ2B transcript variant X15	XM_047444048.1:c.-1453+6234=	XM_047444048.1:c.-1453+6222_-1453+6234del	XM_047444048.1:c.-1453+6227_-1453+6234del	XM_047444048.1:c.-1453+6228_-1453+6234del	XM_047444048.1:c.-1453+6229_-1453+6234del	XM_047444048.1:c.-1453+6232_-1453+6234del	XM_047444048.1:c.-1453+6233_-1453+6234del	XM_047444048.1:c.-1453+6234del	XM_047444048.1:c.-1453+6234dup	XM_047444048.1:c.-1453+6233_-1453+6234dup	XM_047444048.1:c.-1453+6232_-1453+6234dup	XM_047444048.1:c.-1453+6231_-1453+6234dup	XM_047444048.1:c.-1453+6230_-1453+6234dup	XM_047444048.1:c.-1453+6229_-1453+6234dup	XM_047444048.1:c.-1453+6228_-1453+6234dup	XM_047444048.1:c.-1453+6227_-1453+6234dup	XM_047444048.1:c.-1453+6226_-1453+6234dup	XM_047444048.1:c.-1453+6225_-1453+6234dup	XM_047444048.1:c.-1453+6224_-1453+6234dup	XM_047444048.1:c.-1453+6222_-1453+6234dup
BAZ2B transcript variant X24	XM_047444052.1:c.-648+6234=	XM_047444052.1:c.-648+6222_-648+6234del	XM_047444052.1:c.-648+6227_-648+6234del	XM_047444052.1:c.-648+6228_-648+6234del	XM_047444052.1:c.-648+6229_-648+6234del	XM_047444052.1:c.-648+6232_-648+6234del	XM_047444052.1:c.-648+6233_-648+6234del	XM_047444052.1:c.-648+6234del	XM_047444052.1:c.-648+6234dup	XM_047444052.1:c.-648+6233_-648+6234dup	XM_047444052.1:c.-648+6232_-648+6234dup	XM_047444052.1:c.-648+6231_-648+6234dup	XM_047444052.1:c.-648+6230_-648+6234dup	XM_047444052.1:c.-648+6229_-648+6234dup	XM_047444052.1:c.-648+6228_-648+6234dup	XM_047444052.1:c.-648+6227_-648+6234dup	XM_047444052.1:c.-648+6226_-648+6234dup	XM_047444052.1:c.-648+6225_-648+6234dup	XM_047444052.1:c.-648+6224_-648+6234dup	XM_047444052.1:c.-648+6222_-648+6234dup
BAZ2B transcript variant X29	XM_047444055.1:c.-648+6234=	XM_047444055.1:c.-648+6222_-648+6234del	XM_047444055.1:c.-648+6227_-648+6234del	XM_047444055.1:c.-648+6228_-648+6234del	XM_047444055.1:c.-648+6229_-648+6234del	XM_047444055.1:c.-648+6232_-648+6234del	XM_047444055.1:c.-648+6233_-648+6234del	XM_047444055.1:c.-648+6234del	XM_047444055.1:c.-648+6234dup	XM_047444055.1:c.-648+6233_-648+6234dup	XM_047444055.1:c.-648+6232_-648+6234dup	XM_047444055.1:c.-648+6231_-648+6234dup	XM_047444055.1:c.-648+6230_-648+6234dup	XM_047444055.1:c.-648+6229_-648+6234dup	XM_047444055.1:c.-648+6228_-648+6234dup	XM_047444055.1:c.-648+6227_-648+6234dup	XM_047444055.1:c.-648+6226_-648+6234dup	XM_047444055.1:c.-648+6225_-648+6234dup	XM_047444055.1:c.-648+6224_-648+6234dup	XM_047444055.1:c.-648+6222_-648+6234dup

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#.

40 SubSNP, 28 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SSMP	ss663251958	Apr 01, 2015 (144)
2	SSIP	ss947066916	Oct 11, 2018 (152)
3	SWEGEN	ss2990737922	Nov 08, 2017 (151)
4	MCHAISSO	ss3063963471	Nov 08, 2017 (151)
5	URBANLAB	ss3647188888	Oct 11, 2018 (152)
6	EVA	ss3827316497	Apr 25, 2020 (154)
7	KOGIC	ss3949345698	Apr 25, 2020 (154)
8	KOGIC	ss3949345699	Apr 25, 2020 (154)
9	KOGIC	ss3949345700	Apr 25, 2020 (154)
10	GNOMAD	ss4054213096	Apr 26, 2021 (155)
11	GNOMAD	ss4054213097	Apr 26, 2021 (155)
12	GNOMAD	ss4054213098	Apr 26, 2021 (155)
13	GNOMAD	ss4054213099	Apr 26, 2021 (155)
14	GNOMAD	ss4054213100	Apr 26, 2021 (155)
15	GNOMAD	ss4054213101	Apr 26, 2021 (155)
16	GNOMAD	ss4054213102	Apr 26, 2021 (155)
17	GNOMAD	ss4054213103	Apr 26, 2021 (155)
18	GNOMAD	ss4054213104	Apr 26, 2021 (155)
19	GNOMAD	ss4054213105	Apr 26, 2021 (155)
20	GNOMAD	ss4054213106	Apr 26, 2021 (155)
21	GNOMAD	ss4054213107	Apr 26, 2021 (155)
22	GNOMAD	ss4054213108	Apr 26, 2021 (155)
23	GNOMAD	ss4054213109	Apr 26, 2021 (155)
24	GNOMAD	ss4054213110	Apr 26, 2021 (155)
25	GNOMAD	ss4054213111	Apr 26, 2021 (155)
26	TOPMED	ss4530915377	Apr 26, 2021 (155)
27	TOMMO_GENOMICS	ss5154756876	Apr 26, 2021 (155)
28	TOMMO_GENOMICS	ss5154756877	Apr 26, 2021 (155)
29	TOMMO_GENOMICS	ss5154756878	Apr 26, 2021 (155)
30	1000G_HIGH_COVERAGE	ss5250693421	Oct 13, 2022 (156)
31	1000G_HIGH_COVERAGE	ss5250693422	Oct 13, 2022 (156)
32	1000G_HIGH_COVERAGE	ss5250693423	Oct 13, 2022 (156)
33	HUGCELL_USP	ss5450436652	Oct 13, 2022 (156)
34	HUGCELL_USP	ss5450436653	Oct 13, 2022 (156)
35	HUGCELL_USP	ss5450436654	Oct 13, 2022 (156)
36	TOMMO_GENOMICS	ss5685137036	Oct 13, 2022 (156)
37	TOMMO_GENOMICS	ss5685137038	Oct 13, 2022 (156)
38	TOMMO_GENOMICS	ss5685137039	Oct 13, 2022 (156)
39	TOMMO_GENOMICS	ss5685137040	Oct 13, 2022 (156)
40	EVA	ss5821070634	Oct 13, 2022 (156)
41	gnomAD - Genomes Submission ignored due to conflicting rows: Row 79528439 (NC_000002.12:159704482::TT 442/108944) Row 79528440 (NC_000002.12:159704482::TTT 38/108956) Row 79528441 (NC_000002.12:159704482::TTTT 1/108964)...	-	Apr 26, 2021 (155)
42	gnomAD - Genomes Submission ignored due to conflicting rows: Row 79528439 (NC_000002.12:159704482::TT 442/108944) Row 79528440 (NC_000002.12:159704482::TTT 38/108956) Row 79528441 (NC_000002.12:159704482::TTTT 1/108964)...	-	Apr 26, 2021 (155)
43	gnomAD - Genomes Submission ignored due to conflicting rows: Row 79528439 (NC_000002.12:159704482::TT 442/108944) Row 79528440 (NC_000002.12:159704482::TTT 38/108956) Row 79528441 (NC_000002.12:159704482::TTTT 1/108964)...	-	Apr 26, 2021 (155)
44	gnomAD - Genomes Submission ignored due to conflicting rows: Row 79528439 (NC_000002.12:159704482::TT 442/108944) Row 79528440 (NC_000002.12:159704482::TTT 38/108956) Row 79528441 (NC_000002.12:159704482::TTTT 1/108964)...	-	Apr 26, 2021 (155)
45	gnomAD - Genomes Submission ignored due to conflicting rows: Row 79528439 (NC_000002.12:159704482::TT 442/108944) Row 79528440 (NC_000002.12:159704482::TTT 38/108956) Row 79528441 (NC_000002.12:159704482::TTTT 1/108964)...	-	Apr 26, 2021 (155)
46	gnomAD - Genomes Submission ignored due to conflicting rows: Row 79528439 (NC_000002.12:159704482::TT 442/108944) Row 79528440 (NC_000002.12:159704482::TTT 38/108956) Row 79528441 (NC_000002.12:159704482::TTTT 1/108964)...	-	Apr 26, 2021 (155)
47	gnomAD - Genomes Submission ignored due to conflicting rows: Row 79528439 (NC_000002.12:159704482::TT 442/108944) Row 79528440 (NC_000002.12:159704482::TTT 38/108956) Row 79528441 (NC_000002.12:159704482::TTTT 1/108964)...	-	Apr 26, 2021 (155)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 79528439 (NC_000002.12:159704482::TT 442/108944) Row 79528440 (NC_000002.12:159704482::TTT 38/108956) Row 79528441 (NC_000002.12:159704482::TTTT 1/108964)...	-	Apr 26, 2021 (155)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 79528439 (NC_000002.12:159704482::TT 442/108944) Row 79528440 (NC_000002.12:159704482::TTT 38/108956) Row 79528441 (NC_000002.12:159704482::TTTT 1/108964)...	-	Apr 26, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 79528439 (NC_000002.12:159704482::TT 442/108944) Row 79528440 (NC_000002.12:159704482::TTT 38/108956) Row 79528441 (NC_000002.12:159704482::TTTT 1/108964)...	-	Apr 26, 2021 (155)
51	gnomAD - Genomes Submission ignored due to conflicting rows: Row 79528439 (NC_000002.12:159704482::TT 442/108944) Row 79528440 (NC_000002.12:159704482::TTT 38/108956) Row 79528441 (NC_000002.12:159704482::TTTT 1/108964)...	-	Apr 26, 2021 (155)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 79528439 (NC_000002.12:159704482::TT 442/108944) Row 79528440 (NC_000002.12:159704482::TTT 38/108956) Row 79528441 (NC_000002.12:159704482::TTTT 1/108964)...	-	Apr 26, 2021 (155)
53	gnomAD - Genomes Submission ignored due to conflicting rows: Row 79528439 (NC_000002.12:159704482::TT 442/108944) Row 79528440 (NC_000002.12:159704482::TTT 38/108956) Row 79528441 (NC_000002.12:159704482::TTTT 1/108964)...	-	Apr 26, 2021 (155)
54	gnomAD - Genomes Submission ignored due to conflicting rows: Row 79528439 (NC_000002.12:159704482::TT 442/108944) Row 79528440 (NC_000002.12:159704482::TTT 38/108956) Row 79528441 (NC_000002.12:159704482::TTTT 1/108964)...	-	Apr 26, 2021 (155)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 79528439 (NC_000002.12:159704482::TT 442/108944) Row 79528440 (NC_000002.12:159704482::TTT 38/108956) Row 79528441 (NC_000002.12:159704482::TTTT 1/108964)...	-	Apr 26, 2021 (155)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 79528439 (NC_000002.12:159704482::TT 442/108944) Row 79528440 (NC_000002.12:159704482::TTT 38/108956) Row 79528441 (NC_000002.12:159704482::TTTT 1/108964)...	-	Apr 26, 2021 (155)
57	Korean Genome Project Submission ignored due to conflicting rows: Row 5723699 (NC_000002.12:159704482:T: 67/1828) Row 5723700 (NC_000002.12:159704483::T 602/1828) Row 5723701 (NC_000002.12:159704483::TT 47/1828)	-	Apr 25, 2020 (154)
58	Korean Genome Project Submission ignored due to conflicting rows: Row 5723699 (NC_000002.12:159704482:T: 67/1828) Row 5723700 (NC_000002.12:159704483::T 602/1828) Row 5723701 (NC_000002.12:159704483::TT 47/1828)	-	Apr 25, 2020 (154)
59	Korean Genome Project Submission ignored due to conflicting rows: Row 5723699 (NC_000002.12:159704482:T: 67/1828) Row 5723700 (NC_000002.12:159704483::T 602/1828) Row 5723701 (NC_000002.12:159704483::TT 47/1828)	-	Apr 25, 2020 (154)
60	8.3KJPN Submission ignored due to conflicting rows: Row 12726183 (NC_000002.11:160560993::T 3943/16660) Row 12726184 (NC_000002.11:160560993::TT 24/16660) Row 12726185 (NC_000002.11:160560993:T: 8/16660)	-	Apr 26, 2021 (155)
61	8.3KJPN Submission ignored due to conflicting rows: Row 12726183 (NC_000002.11:160560993::T 3943/16660) Row 12726184 (NC_000002.11:160560993::TT 24/16660) Row 12726185 (NC_000002.11:160560993:T: 8/16660)	-	Apr 26, 2021 (155)
62	8.3KJPN Submission ignored due to conflicting rows: Row 12726183 (NC_000002.11:160560993::T 3943/16660) Row 12726184 (NC_000002.11:160560993::TT 24/16660) Row 12726185 (NC_000002.11:160560993:T: 8/16660)	-	Apr 26, 2021 (155)
63	14KJPN Submission ignored due to conflicting rows: Row 18974140 (NC_000002.12:159704482::T 7314/28186) Row 18974142 (NC_000002.12:159704482::TT 44/28186) Row 18974143 (NC_000002.12:159704482:T: 13/28186)...	-	Oct 13, 2022 (156)
64	14KJPN Submission ignored due to conflicting rows: Row 18974140 (NC_000002.12:159704482::T 7314/28186) Row 18974142 (NC_000002.12:159704482::TT 44/28186) Row 18974143 (NC_000002.12:159704482:T: 13/28186)...	-	Oct 13, 2022 (156)
65	14KJPN Submission ignored due to conflicting rows: Row 18974140 (NC_000002.12:159704482::T 7314/28186) Row 18974142 (NC_000002.12:159704482::TT 44/28186) Row 18974143 (NC_000002.12:159704482:T: 13/28186)...	-	Oct 13, 2022 (156)
66	14KJPN Submission ignored due to conflicting rows: Row 18974140 (NC_000002.12:159704482::T 7314/28186) Row 18974142 (NC_000002.12:159704482::TT 44/28186) Row 18974143 (NC_000002.12:159704482:T: 13/28186)...	-	Oct 13, 2022 (156)
67	TopMed	NC_000002.12 - 159704483	Apr 26, 2021 (155)
68	ALFA	NC_000002.12 - 159704483	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
334738256, ss4530915377	NC_000002.12:159704482:TTTTTTTTTTT… NC_000002.12:159704482:TTTTTTTTTTTTT:	NC_000002.12:159704482:TTTTTTTTTTT… NC_000002.12:159704482:TTTTTTTTTTTTTTTTT:TTTT	(self)
12209277153	NC_000002.12:159704482:TTTTTTTTTTT… NC_000002.12:159704482:TTTTTTTTTTTTTTTTT:TTTT	NC_000002.12:159704482:TTTTTTTTTTT… NC_000002.12:159704482:TTTTTTTTTTTTTTTTT:TTTT	(self)
ss4054213111	NC_000002.12:159704482:TTTTTTTT:	NC_000002.12:159704482:TTTTTTTTTTT… NC_000002.12:159704482:TTTTTTTTTTTTTTTTT:TTTTTTTTT	(self)
12209277153	NC_000002.12:159704482:TTTTTTTTTTT… NC_000002.12:159704482:TTTTTTTTTTTTTTTTT:TTTTTTTTT	NC_000002.12:159704482:TTTTTTTTTTT… NC_000002.12:159704482:TTTTTTTTTTTTTTTTT:TTTTTTTTT	(self)
12209277153	NC_000002.12:159704482:TTTTTTTTTTT… NC_000002.12:159704482:TTTTTTTTTTTTTTTTT:TTTTTTTTTT	NC_000002.12:159704482:TTTTTTTTTTT… NC_000002.12:159704482:TTTTTTTTTTTTTTTTT:TTTTTTTTTT	(self)
ss2990737922	NC_000002.11:160560993:TTTTTT:	NC_000002.12:159704482:TTTTTTTTTTT… NC_000002.12:159704482:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss4054213110	NC_000002.12:159704482:TTTTTT:	NC_000002.12:159704482:TTTTTTTTTTT… NC_000002.12:159704482:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
12209277153	NC_000002.12:159704482:TTTTTTTTTTT… NC_000002.12:159704482:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT	NC_000002.12:159704482:TTTTTTTTTTT… NC_000002.12:159704482:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss4054213109	NC_000002.12:159704482:TTT:	NC_000002.12:159704482:TTTTTTTTTTT… NC_000002.12:159704482:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
12209277153	NC_000002.12:159704482:TTTTTTTTTTT… NC_000002.12:159704482:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	NC_000002.12:159704482:TTTTTTTTTTT… NC_000002.12:159704482:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss4054213108	NC_000002.12:159704482:TT:	NC_000002.12:159704482:TTTTTTTTTTT… NC_000002.12:159704482:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
12209277153	NC_000002.12:159704482:TTTTTTTTTTT… NC_000002.12:159704482:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	NC_000002.12:159704482:TTTTTTTTTTT… NC_000002.12:159704482:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss5154756878	NC_000002.11:160560993:T:	NC_000002.12:159704482:TTTTTTTTTTT… NC_000002.12:159704482:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss3949345698, ss4054213107, ss5250693423, ss5450436653, ss5685137039	NC_000002.12:159704482:T:	NC_000002.12:159704482:TTTTTTTTTTT… NC_000002.12:159704482:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
12209277153	NC_000002.12:159704482:TTTTTTTTTTT… NC_000002.12:159704482:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	NC_000002.12:159704482:TTTTTTTTTTT… NC_000002.12:159704482:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss663251958, ss3827316497, ss5154756876	NC_000002.11:160560993::T	NC_000002.12:159704482:TTTTTTTTTTT… NC_000002.12:159704482:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss947066916	NC_000002.11:160560994::T	NC_000002.12:159704482:TTTTTTTTTTT… NC_000002.12:159704482:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss3063963471, ss3647188888, ss5250693421, ss5450436652, ss5685137036	NC_000002.12:159704482::T	NC_000002.12:159704482:TTTTTTTTTTT… NC_000002.12:159704482:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
12209277153	NC_000002.12:159704482:TTTTTTTTTTT… NC_000002.12:159704482:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	NC_000002.12:159704482:TTTTTTTTTTT… NC_000002.12:159704482:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss3949345699	NC_000002.12:159704483::T	NC_000002.12:159704482:TTTTTTTTTTT… NC_000002.12:159704482:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss5154756877	NC_000002.11:160560993::TT	NC_000002.12:159704482:TTTTTTTTTTT… NC_000002.12:159704482:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss4054213096, ss5250693422, ss5450436654, ss5685137038	NC_000002.12:159704482::TT	NC_000002.12:159704482:TTTTTTTTTTT… NC_000002.12:159704482:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
12209277153	NC_000002.12:159704482:TTTTTTTTTTT… NC_000002.12:159704482:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	NC_000002.12:159704482:TTTTTTTTTTT… NC_000002.12:159704482:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss3949345700	NC_000002.12:159704483::TT	NC_000002.12:159704482:TTTTTTTTTTT… NC_000002.12:159704482:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss4054213097, ss5685137040	NC_000002.12:159704482::TTT	NC_000002.12:159704482:TTTTTTTTTTT… NC_000002.12:159704482:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
12209277153	NC_000002.12:159704482:TTTTTTTTTTT… NC_000002.12:159704482:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	NC_000002.12:159704482:TTTTTTTTTTT… NC_000002.12:159704482:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss5821070634	NC_000002.11:160560993::TTTT	NC_000002.12:159704482:TTTTTTTTTTT… NC_000002.12:159704482:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
ss4054213098	NC_000002.12:159704482::TTTT	NC_000002.12:159704482:TTTTTTTTTTT… NC_000002.12:159704482:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss4054213099	NC_000002.12:159704482::TTTTT	NC_000002.12:159704482:TTTTTTTTTTT… NC_000002.12:159704482:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss4054213100	NC_000002.12:159704482::TTTTTT	NC_000002.12:159704482:TTTTTTTTTTT… NC_000002.12:159704482:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4054213101	NC_000002.12:159704482::TTTTTTT	NC_000002.12:159704482:TTTTTTTTTTT… NC_000002.12:159704482:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
12209277153	NC_000002.12:159704482:TTTTTTTTTTT… NC_000002.12:159704482:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	NC_000002.12:159704482:TTTTTTTTTTT… NC_000002.12:159704482:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4054213102	NC_000002.12:159704482::TTTTTTTT	NC_000002.12:159704482:TTTTTTTTTTT… NC_000002.12:159704482:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
12209277153	NC_000002.12:159704482:TTTTTTTTTTT… NC_000002.12:159704482:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	NC_000002.12:159704482:TTTTTTTTTTT… NC_000002.12:159704482:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4054213103	NC_000002.12:159704482::TTTTTTTTT	NC_000002.12:159704482:TTTTTTTTTTT… NC_000002.12:159704482:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4054213104	NC_000002.12:159704482::TTTTTTTTTT	NC_000002.12:159704482:TTTTTTTTTTT… NC_000002.12:159704482:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4054213105	NC_000002.12:159704482::TTTTTTTTTTT	NC_000002.12:159704482:TTTTTTTTTTT… NC_000002.12:159704482:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
12209277153	NC_000002.12:159704482:TTTTTTTTTTT… NC_000002.12:159704482:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000002.12:159704482:TTTTTTTTTTT… NC_000002.12:159704482:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4054213106	NC_000002.12:159704482::TTTTTTTTTT… NC_000002.12:159704482::TTTTTTTTTTTTT	NC_000002.12:159704482:TTTTTTTTTTT… NC_000002.12:159704482:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss2402311487	NC_000002.11:160560993:TTTTTTTTTTT… NC_000002.11:160560993:TTTTTTTTTTTTT:	NC_000002.12:159704482:TTTTTTTTTTT… NC_000002.12:159704482:TTTTTTTTTTTTTTTTT:TTTT

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

No publications for rs768099248

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:

Select flank length:

Genomic regions, transcripts, and products
Top▲ Help
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs768099248