Name: rs751338141
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.

rs751338141

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr16:83810522-83810544 (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(A)₁₁ / del(A)₁₀ / del(A)₉ / de…
del(A)₁₁ / del(A)₁₀ / del(A)₉ / del(A)₈ / del(A)₇ / del(A)₆ / del(A)₅ / del(A)₄ / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)₄ / dup(A)₅ / dup(A)₆ / dup(A)₇ / dup(A)₁₄ / dup(A)₁₇
Variation Type: Indel Insertion and Deletion
Frequency: del(A)₇=0.000049 (13/264690, TOPMED)
del(A)₁₁=0.0000 (0/3224, ALFA)
del(A)₁₀=0.0000 (0/3224, ALFA) (+ 15 more)
del(A)₉=0.0000 (0/3224, ALFA)
del(A)₈=0.0000 (0/3224, ALFA)
del(A)₇=0.0000 (0/3224, ALFA)
del(A)₆=0.0000 (0/3224, ALFA)
del(A)₅=0.0000 (0/3224, ALFA)
del(A)₄=0.0000 (0/3224, ALFA)
delAAA=0.0000 (0/3224, ALFA)
delAA=0.0000 (0/3224, ALFA)
delA=0.0000 (0/3224, ALFA)
dupA=0.0000 (0/3224, ALFA)
dupAA=0.0000 (0/3224, ALFA)
dupAAA=0.0000 (0/3224, ALFA)
dup(A)₄=0.0000 (0/3224, ALFA)
dup(A)₅=0.0000 (0/3224, ALFA)
dup(A)₆=0.0000 (0/3224, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: HSBP1 : 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	3224	AAAAAAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
European	Sub	2010	AAAAAAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
African	Sub	700	AAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A
African Others	Sub	24	AAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
African American	Sub	676	AAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A
Asian	Sub	58	AAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
East Asian	Sub	46	AAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Other Asian	Sub	12	AAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Latin American 1	Sub	42	AAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Latin American 2	Sub	230	AAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A
South Asian	Sub	32	AAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Other	Sub	152	AAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=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").

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	(A)₂₃=0.999951	del(A)₇=0.000049
Allele Frequency Aggregator	Total	Global	3224	(A)₂₃=1.0000	del(A)₁₁=0.0000, del(A)₁₀=0.0000, del(A)₉=0.0000, del(A)₈=0.0000, del(A)₇=0.0000, del(A)₆=0.0000, del(A)₅=0.0000, del(A)₄=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000, dup(A)₄=0.0000, dup(A)₅=0.0000, dup(A)₆=0.0000
Allele Frequency Aggregator	European	Sub	2010	(A)₂₃=1.0000	del(A)₁₁=0.0000, del(A)₁₀=0.0000, del(A)₉=0.0000, del(A)₈=0.0000, del(A)₇=0.0000, del(A)₆=0.0000, del(A)₅=0.0000, del(A)₄=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000, dup(A)₄=0.0000, dup(A)₅=0.0000, dup(A)₆=0.0000
Allele Frequency Aggregator	African	Sub	700	(A)₂₃=1.000	del(A)₁₁=0.000, del(A)₁₀=0.000, del(A)₉=0.000, del(A)₈=0.000, del(A)₇=0.000, del(A)₆=0.000, del(A)₅=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₄=0.000, dup(A)₅=0.000, dup(A)₆=0.000
Allele Frequency Aggregator	Latin American 2	Sub	230	(A)₂₃=1.000	del(A)₁₁=0.000, del(A)₁₀=0.000, del(A)₉=0.000, del(A)₈=0.000, del(A)₇=0.000, del(A)₆=0.000, del(A)₅=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₄=0.000, dup(A)₅=0.000, dup(A)₆=0.000
Allele Frequency Aggregator	Other	Sub	152	(A)₂₃=1.000	del(A)₁₁=0.000, del(A)₁₀=0.000, del(A)₉=0.000, del(A)₈=0.000, del(A)₇=0.000, del(A)₆=0.000, del(A)₅=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₄=0.000, dup(A)₅=0.000, dup(A)₆=0.000
Allele Frequency Aggregator	Asian	Sub	58	(A)₂₃=1.00	del(A)₁₁=0.00, del(A)₁₀=0.00, del(A)₉=0.00, del(A)₈=0.00, del(A)₇=0.00, del(A)₆=0.00, del(A)₅=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₄=0.00, dup(A)₅=0.00, dup(A)₆=0.00
Allele Frequency Aggregator	Latin American 1	Sub	42	(A)₂₃=1.00	del(A)₁₁=0.00, del(A)₁₀=0.00, del(A)₉=0.00, del(A)₈=0.00, del(A)₇=0.00, del(A)₆=0.00, del(A)₅=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₄=0.00, dup(A)₅=0.00, dup(A)₆=0.00
Allele Frequency Aggregator	South Asian	Sub	32	(A)₂₃=1.00	del(A)₁₁=0.00, del(A)₁₀=0.00, del(A)₉=0.00, del(A)₈=0.00, del(A)₇=0.00, del(A)₆=0.00, del(A)₅=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₄=0.00, dup(A)₅=0.00, dup(A)₆=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.83810534_83810544del
GRCh38.p14 chr 16	NC_000016.10:g.83810535_83810544del
GRCh38.p14 chr 16	NC_000016.10:g.83810536_83810544del
GRCh38.p14 chr 16	NC_000016.10:g.83810537_83810544del
GRCh38.p14 chr 16	NC_000016.10:g.83810538_83810544del
GRCh38.p14 chr 16	NC_000016.10:g.83810539_83810544del
GRCh38.p14 chr 16	NC_000016.10:g.83810540_83810544del
GRCh38.p14 chr 16	NC_000016.10:g.83810541_83810544del
GRCh38.p14 chr 16	NC_000016.10:g.83810542_83810544del
GRCh38.p14 chr 16	NC_000016.10:g.83810543_83810544del
GRCh38.p14 chr 16	NC_000016.10:g.83810544del
GRCh38.p14 chr 16	NC_000016.10:g.83810544dup
GRCh38.p14 chr 16	NC_000016.10:g.83810543_83810544dup
GRCh38.p14 chr 16	NC_000016.10:g.83810542_83810544dup
GRCh38.p14 chr 16	NC_000016.10:g.83810541_83810544dup
GRCh38.p14 chr 16	NC_000016.10:g.83810540_83810544dup
GRCh38.p14 chr 16	NC_000016.10:g.83810539_83810544dup
GRCh38.p14 chr 16	NC_000016.10:g.83810538_83810544dup
GRCh38.p14 chr 16	NC_000016.10:g.83810531_83810544dup
GRCh38.p14 chr 16	NC_000016.10:g.83810528_83810544dup
GRCh37.p13 chr 16	NC_000016.9:g.83844139_83844149del
GRCh37.p13 chr 16	NC_000016.9:g.83844140_83844149del
GRCh37.p13 chr 16	NC_000016.9:g.83844141_83844149del
GRCh37.p13 chr 16	NC_000016.9:g.83844142_83844149del
GRCh37.p13 chr 16	NC_000016.9:g.83844143_83844149del
GRCh37.p13 chr 16	NC_000016.9:g.83844144_83844149del
GRCh37.p13 chr 16	NC_000016.9:g.83844145_83844149del
GRCh37.p13 chr 16	NC_000016.9:g.83844146_83844149del
GRCh37.p13 chr 16	NC_000016.9:g.83844147_83844149del
GRCh37.p13 chr 16	NC_000016.9:g.83844148_83844149del
GRCh37.p13 chr 16	NC_000016.9:g.83844149del
GRCh37.p13 chr 16	NC_000016.9:g.83844149dup
GRCh37.p13 chr 16	NC_000016.9:g.83844148_83844149dup
GRCh37.p13 chr 16	NC_000016.9:g.83844147_83844149dup
GRCh37.p13 chr 16	NC_000016.9:g.83844146_83844149dup
GRCh37.p13 chr 16	NC_000016.9:g.83844145_83844149dup
GRCh37.p13 chr 16	NC_000016.9:g.83844144_83844149dup
GRCh37.p13 chr 16	NC_000016.9:g.83844143_83844149dup
GRCh37.p13 chr 16	NC_000016.9:g.83844136_83844149dup
GRCh37.p13 chr 16	NC_000016.9:g.83844133_83844149dup

Gene: HSBP1, heat shock factor binding protein 1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
HSBP1 transcript	NM_001537.4:c.3-887_3-8… NM_001537.4:c.3-887_3-877del	N/A	Intron Variant

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement	(A)₂₃=	del(A)₁₁	del(A)₁₀	del(A)₉	del(A)₈	del(A)₇	del(A)₆	del(A)₅	del(A)₄	delAAA	delAA	delA	dupA	dupAA	dupAAA	dup(A)₄	dup(A)₅	dup(A)₆	dup(A)₇	dup(A)₁₄	dup(A)₁₇
GRCh38.p14 chr 16	NC_000016.10:g.83810522_83810544=	NC_000016.10:g.83810534_83810544del	NC_000016.10:g.83810535_83810544del	NC_000016.10:g.83810536_83810544del	NC_000016.10:g.83810537_83810544del	NC_000016.10:g.83810538_83810544del	NC_000016.10:g.83810539_83810544del	NC_000016.10:g.83810540_83810544del	NC_000016.10:g.83810541_83810544del	NC_000016.10:g.83810542_83810544del	NC_000016.10:g.83810543_83810544del	NC_000016.10:g.83810544del	NC_000016.10:g.83810544dup	NC_000016.10:g.83810543_83810544dup	NC_000016.10:g.83810542_83810544dup	NC_000016.10:g.83810541_83810544dup	NC_000016.10:g.83810540_83810544dup	NC_000016.10:g.83810539_83810544dup	NC_000016.10:g.83810538_83810544dup	NC_000016.10:g.83810531_83810544dup	NC_000016.10:g.83810528_83810544dup
GRCh37.p13 chr 16	NC_000016.9:g.83844127_83844149=	NC_000016.9:g.83844139_83844149del	NC_000016.9:g.83844140_83844149del	NC_000016.9:g.83844141_83844149del	NC_000016.9:g.83844142_83844149del	NC_000016.9:g.83844143_83844149del	NC_000016.9:g.83844144_83844149del	NC_000016.9:g.83844145_83844149del	NC_000016.9:g.83844146_83844149del	NC_000016.9:g.83844147_83844149del	NC_000016.9:g.83844148_83844149del	NC_000016.9:g.83844149del	NC_000016.9:g.83844149dup	NC_000016.9:g.83844148_83844149dup	NC_000016.9:g.83844147_83844149dup	NC_000016.9:g.83844146_83844149dup	NC_000016.9:g.83844145_83844149dup	NC_000016.9:g.83844144_83844149dup	NC_000016.9:g.83844143_83844149dup	NC_000016.9:g.83844136_83844149dup	NC_000016.9:g.83844133_83844149dup
HSBP1 transcript	NM_001537.3:c.*3-899=	NM_001537.3:c.3-887_3-877del	NM_001537.3:c.3-886_3-877del	NM_001537.3:c.3-885_3-877del	NM_001537.3:c.3-884_3-877del	NM_001537.3:c.3-883_3-877del	NM_001537.3:c.3-882_3-877del	NM_001537.3:c.3-881_3-877del	NM_001537.3:c.3-880_3-877del	NM_001537.3:c.3-879_3-877del	NM_001537.3:c.3-878_3-877del	NM_001537.3:c.*3-877del	NM_001537.3:c.*3-877dup	NM_001537.3:c.3-878_3-877dup	NM_001537.3:c.3-879_3-877dup	NM_001537.3:c.3-880_3-877dup	NM_001537.3:c.3-881_3-877dup	NM_001537.3:c.3-882_3-877dup	NM_001537.3:c.3-883_3-877dup	NM_001537.3:c.3-890_3-877dup	NM_001537.3:c.3-893_3-877dup
HSBP1 transcript	NM_001537.4:c.*3-899=	NM_001537.4:c.3-887_3-877del	NM_001537.4:c.3-886_3-877del	NM_001537.4:c.3-885_3-877del	NM_001537.4:c.3-884_3-877del	NM_001537.4:c.3-883_3-877del	NM_001537.4:c.3-882_3-877del	NM_001537.4:c.3-881_3-877del	NM_001537.4:c.3-880_3-877del	NM_001537.4:c.3-879_3-877del	NM_001537.4:c.3-878_3-877del	NM_001537.4:c.*3-877del	NM_001537.4:c.*3-877dup	NM_001537.4:c.3-878_3-877dup	NM_001537.4:c.3-879_3-877dup	NM_001537.4:c.3-880_3-877dup	NM_001537.4:c.3-881_3-877dup	NM_001537.4:c.3-882_3-877dup	NM_001537.4:c.3-883_3-877dup	NM_001537.4:c.3-890_3-877dup	NM_001537.4:c.3-893_3-877dup

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#.

47 SubSNP, 39 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	EVA_UK10K_ALSPAC	ss1708631622	Apr 01, 2015 (144)
2	EVA_UK10K_ALSPAC	ss1708631624	Apr 01, 2015 (144)
3	EVA_UK10K_TWINSUK	ss1708631651	Apr 01, 2015 (144)
4	EVA_UK10K_TWINSUK	ss1708631654	Apr 01, 2015 (144)
5	SWEGEN	ss3014934171	Nov 08, 2017 (151)
6	EVA	ss3834698079	Apr 27, 2020 (154)
7	KOGIC	ss3978084082	Apr 27, 2020 (154)
8	KOGIC	ss3978084083	Apr 27, 2020 (154)
9	KOGIC	ss3978084084	Apr 27, 2020 (154)
10	KOGIC	ss3978084085	Apr 27, 2020 (154)
11	KOGIC	ss3978084086	Apr 27, 2020 (154)
12	KOGIC	ss3978084087	Apr 27, 2020 (154)
13	GNOMAD	ss4305454322	Apr 26, 2021 (155)
14	GNOMAD	ss4305454323	Apr 26, 2021 (155)
15	GNOMAD	ss4305454324	Apr 26, 2021 (155)
16	GNOMAD	ss4305454325	Apr 26, 2021 (155)
17	GNOMAD	ss4305454326	Apr 26, 2021 (155)
18	GNOMAD	ss4305454327	Apr 26, 2021 (155)
19	GNOMAD	ss4305454328	Apr 26, 2021 (155)
20	GNOMAD	ss4305454329	Apr 26, 2021 (155)
21	GNOMAD	ss4305454330	Apr 26, 2021 (155)
22	GNOMAD	ss4305454331	Apr 26, 2021 (155)
23	GNOMAD	ss4305454332	Apr 26, 2021 (155)
24	GNOMAD	ss4305454333	Apr 26, 2021 (155)
25	GNOMAD	ss4305454334	Apr 26, 2021 (155)
26	GNOMAD	ss4305454335	Apr 26, 2021 (155)
27	GNOMAD	ss4305454336	Apr 26, 2021 (155)
28	GNOMAD	ss4305454337	Apr 26, 2021 (155)
29	GNOMAD	ss4305454338	Apr 26, 2021 (155)
30	TOPMED	ss5024456732	Apr 26, 2021 (155)
31	TOMMO_GENOMICS	ss5220757420	Apr 26, 2021 (155)
32	TOMMO_GENOMICS	ss5220757421	Apr 26, 2021 (155)
33	TOMMO_GENOMICS	ss5220757422	Apr 26, 2021 (155)
34	TOMMO_GENOMICS	ss5220757423	Apr 26, 2021 (155)
35	TOMMO_GENOMICS	ss5220757424	Apr 26, 2021 (155)
36	HUGCELL_USP	ss5495120440	Oct 17, 2022 (156)
37	HUGCELL_USP	ss5495120441	Oct 17, 2022 (156)
38	HUGCELL_USP	ss5495120442	Oct 17, 2022 (156)
39	HUGCELL_USP	ss5495120443	Oct 17, 2022 (156)
40	TOMMO_GENOMICS	ss5776109613	Oct 17, 2022 (156)
41	TOMMO_GENOMICS	ss5776109614	Oct 17, 2022 (156)
42	TOMMO_GENOMICS	ss5776109615	Oct 17, 2022 (156)
43	TOMMO_GENOMICS	ss5776109617	Oct 17, 2022 (156)
44	TOMMO_GENOMICS	ss5776109618	Oct 17, 2022 (156)
45	EVA	ss5846764273	Oct 17, 2022 (156)
46	EVA	ss5846764274	Oct 17, 2022 (156)
47	EVA	ss5846764275	Oct 17, 2022 (156)
48	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 39110014 (NC_000016.9:83844126::AA 2527/3854) Row 39110015 (NC_000016.9:83844126::AAA 1218/3854)	-	Oct 12, 2018 (152)
49	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 39110014 (NC_000016.9:83844126::AA 2527/3854) Row 39110015 (NC_000016.9:83844126::AAA 1218/3854)	-	Oct 12, 2018 (152)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 497137927 (NC_000016.10:83810521::A 3086/48606) Row 497137928 (NC_000016.10:83810521::AA 18742/48604) Row 497137929 (NC_000016.10:83810521::AAA 8036/48654)...	-	Apr 26, 2021 (155)
51	gnomAD - Genomes Submission ignored due to conflicting rows: Row 497137927 (NC_000016.10:83810521::A 3086/48606) Row 497137928 (NC_000016.10:83810521::AA 18742/48604) Row 497137929 (NC_000016.10:83810521::AAA 8036/48654)...	-	Apr 26, 2021 (155)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 497137927 (NC_000016.10:83810521::A 3086/48606) Row 497137928 (NC_000016.10:83810521::AA 18742/48604) Row 497137929 (NC_000016.10:83810521::AAA 8036/48654)...	-	Apr 26, 2021 (155)
53	gnomAD - Genomes Submission ignored due to conflicting rows: Row 497137927 (NC_000016.10:83810521::A 3086/48606) Row 497137928 (NC_000016.10:83810521::AA 18742/48604) Row 497137929 (NC_000016.10:83810521::AAA 8036/48654)...	-	Apr 26, 2021 (155)
54	gnomAD - Genomes Submission ignored due to conflicting rows: Row 497137927 (NC_000016.10:83810521::A 3086/48606) Row 497137928 (NC_000016.10:83810521::AA 18742/48604) Row 497137929 (NC_000016.10:83810521::AAA 8036/48654)...	-	Apr 26, 2021 (155)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 497137927 (NC_000016.10:83810521::A 3086/48606) Row 497137928 (NC_000016.10:83810521::AA 18742/48604) Row 497137929 (NC_000016.10:83810521::AAA 8036/48654)...	-	Apr 26, 2021 (155)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 497137927 (NC_000016.10:83810521::A 3086/48606) Row 497137928 (NC_000016.10:83810521::AA 18742/48604) Row 497137929 (NC_000016.10:83810521::AAA 8036/48654)...	-	Apr 26, 2021 (155)
57	gnomAD - Genomes Submission ignored due to conflicting rows: Row 497137927 (NC_000016.10:83810521::A 3086/48606) Row 497137928 (NC_000016.10:83810521::AA 18742/48604) Row 497137929 (NC_000016.10:83810521::AAA 8036/48654)...	-	Apr 26, 2021 (155)
58	gnomAD - Genomes Submission ignored due to conflicting rows: Row 497137927 (NC_000016.10:83810521::A 3086/48606) Row 497137928 (NC_000016.10:83810521::AA 18742/48604) Row 497137929 (NC_000016.10:83810521::AAA 8036/48654)...	-	Apr 26, 2021 (155)
59	gnomAD - Genomes Submission ignored due to conflicting rows: Row 497137927 (NC_000016.10:83810521::A 3086/48606) Row 497137928 (NC_000016.10:83810521::AA 18742/48604) Row 497137929 (NC_000016.10:83810521::AAA 8036/48654)...	-	Apr 26, 2021 (155)
60	gnomAD - Genomes Submission ignored due to conflicting rows: Row 497137927 (NC_000016.10:83810521::A 3086/48606) Row 497137928 (NC_000016.10:83810521::AA 18742/48604) Row 497137929 (NC_000016.10:83810521::AAA 8036/48654)...	-	Apr 26, 2021 (155)
61	gnomAD - Genomes Submission ignored due to conflicting rows: Row 497137927 (NC_000016.10:83810521::A 3086/48606) Row 497137928 (NC_000016.10:83810521::AA 18742/48604) Row 497137929 (NC_000016.10:83810521::AAA 8036/48654)...	-	Apr 26, 2021 (155)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 497137927 (NC_000016.10:83810521::A 3086/48606) Row 497137928 (NC_000016.10:83810521::AA 18742/48604) Row 497137929 (NC_000016.10:83810521::AAA 8036/48654)...	-	Apr 26, 2021 (155)
63	gnomAD - Genomes Submission ignored due to conflicting rows: Row 497137927 (NC_000016.10:83810521::A 3086/48606) Row 497137928 (NC_000016.10:83810521::AA 18742/48604) Row 497137929 (NC_000016.10:83810521::AAA 8036/48654)...	-	Apr 26, 2021 (155)
64	gnomAD - Genomes Submission ignored due to conflicting rows: Row 497137927 (NC_000016.10:83810521::A 3086/48606) Row 497137928 (NC_000016.10:83810521::AA 18742/48604) Row 497137929 (NC_000016.10:83810521::AAA 8036/48654)...	-	Apr 26, 2021 (155)
65	gnomAD - Genomes Submission ignored due to conflicting rows: Row 497137927 (NC_000016.10:83810521::A 3086/48606) Row 497137928 (NC_000016.10:83810521::AA 18742/48604) Row 497137929 (NC_000016.10:83810521::AAA 8036/48654)...	-	Apr 26, 2021 (155)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 497137927 (NC_000016.10:83810521::A 3086/48606) Row 497137928 (NC_000016.10:83810521::AA 18742/48604) Row 497137929 (NC_000016.10:83810521::AAA 8036/48654)...	-	Apr 26, 2021 (155)
67	Korean Genome Project Submission ignored due to conflicting rows: Row 34462083 (NC_000016.10:83810523::AAA 169/1748) Row 34462084 (NC_000016.10:83810523::AA 205/1748) Row 34462085 (NC_000016.10:83810523::AAAA 45/1748)...	-	Apr 27, 2020 (154)
68	Korean Genome Project Submission ignored due to conflicting rows: Row 34462083 (NC_000016.10:83810523::AAA 169/1748) Row 34462084 (NC_000016.10:83810523::AA 205/1748) Row 34462085 (NC_000016.10:83810523::AAAA 45/1748)...	-	Apr 27, 2020 (154)
69	Korean Genome Project Submission ignored due to conflicting rows: Row 34462083 (NC_000016.10:83810523::AAA 169/1748) Row 34462084 (NC_000016.10:83810523::AA 205/1748) Row 34462085 (NC_000016.10:83810523::AAAA 45/1748)...	-	Apr 27, 2020 (154)
70	Korean Genome Project Submission ignored due to conflicting rows: Row 34462083 (NC_000016.10:83810523::AAA 169/1748) Row 34462084 (NC_000016.10:83810523::AA 205/1748) Row 34462085 (NC_000016.10:83810523::AAAA 45/1748)...	-	Apr 27, 2020 (154)
71	Korean Genome Project Submission ignored due to conflicting rows: Row 34462083 (NC_000016.10:83810523::AAA 169/1748) Row 34462084 (NC_000016.10:83810523::AA 205/1748) Row 34462085 (NC_000016.10:83810523::AAAA 45/1748)...	-	Apr 27, 2020 (154)
72	Korean Genome Project Submission ignored due to conflicting rows: Row 34462083 (NC_000016.10:83810523::AAA 169/1748) Row 34462084 (NC_000016.10:83810523::AA 205/1748) Row 34462085 (NC_000016.10:83810523::AAAA 45/1748)...	-	Apr 27, 2020 (154)
73	8.3KJPN Submission ignored due to conflicting rows: Row 78726727 (NC_000016.9:83844126::AA 1235/16696) Row 78726728 (NC_000016.9:83844126::A 840/16696) Row 78726729 (NC_000016.9:83844126::AAA 1741/16696)...	-	Apr 26, 2021 (155)
74	8.3KJPN Submission ignored due to conflicting rows: Row 78726727 (NC_000016.9:83844126::AA 1235/16696) Row 78726728 (NC_000016.9:83844126::A 840/16696) Row 78726729 (NC_000016.9:83844126::AAA 1741/16696)...	-	Apr 26, 2021 (155)
75	8.3KJPN Submission ignored due to conflicting rows: Row 78726727 (NC_000016.9:83844126::AA 1235/16696) Row 78726728 (NC_000016.9:83844126::A 840/16696) Row 78726729 (NC_000016.9:83844126::AAA 1741/16696)...	-	Apr 26, 2021 (155)
76	8.3KJPN Submission ignored due to conflicting rows: Row 78726727 (NC_000016.9:83844126::AA 1235/16696) Row 78726728 (NC_000016.9:83844126::A 840/16696) Row 78726729 (NC_000016.9:83844126::AAA 1741/16696)...	-	Apr 26, 2021 (155)
77	8.3KJPN Submission ignored due to conflicting rows: Row 78726727 (NC_000016.9:83844126::AA 1235/16696) Row 78726728 (NC_000016.9:83844126::A 840/16696) Row 78726729 (NC_000016.9:83844126::AAA 1741/16696)...	-	Apr 26, 2021 (155)
78	14KJPN Submission ignored due to conflicting rows: Row 109946717 (NC_000016.10:83810521::AA 1898/28044) Row 109946718 (NC_000016.10:83810521::A 1414/28044) Row 109946719 (NC_000016.10:83810521::AAA 3004/28044)...	-	Oct 17, 2022 (156)
79	14KJPN Submission ignored due to conflicting rows: Row 109946717 (NC_000016.10:83810521::AA 1898/28044) Row 109946718 (NC_000016.10:83810521::A 1414/28044) Row 109946719 (NC_000016.10:83810521::AAA 3004/28044)...	-	Oct 17, 2022 (156)
80	14KJPN Submission ignored due to conflicting rows: Row 109946717 (NC_000016.10:83810521::AA 1898/28044) Row 109946718 (NC_000016.10:83810521::A 1414/28044) Row 109946719 (NC_000016.10:83810521::AAA 3004/28044)...	-	Oct 17, 2022 (156)
81	14KJPN Submission ignored due to conflicting rows: Row 109946717 (NC_000016.10:83810521::AA 1898/28044) Row 109946718 (NC_000016.10:83810521::A 1414/28044) Row 109946719 (NC_000016.10:83810521::AAA 3004/28044)...	-	Oct 17, 2022 (156)
82	14KJPN Submission ignored due to conflicting rows: Row 109946717 (NC_000016.10:83810521::AA 1898/28044) Row 109946718 (NC_000016.10:83810521::A 1414/28044) Row 109946719 (NC_000016.10:83810521::AAA 3004/28044)...	-	Oct 17, 2022 (156)
83	TopMed	NC_000016.10 - 83810522	Apr 26, 2021 (155)
84	UK 10K study - Twins Submission ignored due to conflicting rows: Row 39110014 (NC_000016.9:83844126::AA 2356/3708) Row 39110015 (NC_000016.9:83844126::AAA 1224/3708)	-	Oct 12, 2018 (152)
85	UK 10K study - Twins Submission ignored due to conflicting rows: Row 39110014 (NC_000016.9:83844126::AA 2356/3708) Row 39110015 (NC_000016.9:83844126::AAA 1224/3708)	-	Oct 12, 2018 (152)
86	ALFA	NC_000016.10 - 83810522	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
ss4305454338	NC_000016.10:83810521:AAAAAAAAAAA:	NC_000016.10:83810521:AAAAAAAAAAAA… NC_000016.10:83810521:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
4147513367	NC_000016.10:83810521:AAAAAAAAAAAA… NC_000016.10:83810521:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	NC_000016.10:83810521:AAAAAAAAAAAA… NC_000016.10:83810521:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss4305454337	NC_000016.10:83810521:AAAAAAAAAA:	NC_000016.10:83810521:AAAAAAAAAAAA… NC_000016.10:83810521:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
4147513367	NC_000016.10:83810521:AAAAAAAAAAAA… NC_000016.10:83810521:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000016.10:83810521:AAAAAAAAAAAA… NC_000016.10:83810521:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss3014934171	NC_000016.9:83844126:AAAAAAAAA:	NC_000016.10:83810521:AAAAAAAAAAAA… NC_000016.10:83810521:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss4305454336	NC_000016.10:83810521:AAAAAAAAA:	NC_000016.10:83810521:AAAAAAAAAAAA… NC_000016.10:83810521:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
4147513367	NC_000016.10:83810521:AAAAAAAAAAAA… NC_000016.10:83810521:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000016.10:83810521:AAAAAAAAAAAA… NC_000016.10:83810521:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss4305454335	NC_000016.10:83810521:AAAAAAAA:	NC_000016.10:83810521:AAAAAAAAAAAA… NC_000016.10:83810521:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
4147513367	NC_000016.10:83810521:AAAAAAAAAAAA… NC_000016.10:83810521:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000016.10:83810521:AAAAAAAAAAAA… NC_000016.10:83810521:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
240002393, ss4305454334, ss5024456732	NC_000016.10:83810521:AAAAAAA:	NC_000016.10:83810521:AAAAAAAAAAAA… NC_000016.10:83810521:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
4147513367	NC_000016.10:83810521:AAAAAAAAAAAA… NC_000016.10:83810521:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000016.10:83810521:AAAAAAAAAAAA… NC_000016.10:83810521:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
4147513367	NC_000016.10:83810521:AAAAAAAAAAAA… NC_000016.10:83810521:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000016.10:83810521:AAAAAAAAAAAA… NC_000016.10:83810521:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4305454333	NC_000016.10:83810521:AAAAA:	NC_000016.10:83810521:AAAAAAAAAAAA… NC_000016.10:83810521:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
4147513367	NC_000016.10:83810521:AAAAAAAAAAAA… NC_000016.10:83810521:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000016.10:83810521:AAAAAAAAAAAA… NC_000016.10:83810521:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
4147513367	NC_000016.10:83810521:AAAAAAAAAAAA… NC_000016.10:83810521:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000016.10:83810521:AAAAAAAAAAAA… NC_000016.10:83810521:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss4305454332	NC_000016.10:83810521:AAA:	NC_000016.10:83810521:AAAAAAAAAAAA… NC_000016.10:83810521:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
4147513367	NC_000016.10:83810521:AAAAAAAAAAAA… NC_000016.10:83810521:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000016.10:83810521:AAAAAAAAAAAA… NC_000016.10:83810521:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3978084086	NC_000016.10:83810521:AA:	NC_000016.10:83810521:AAAAAAAAAAAA… NC_000016.10:83810521:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
4147513367	NC_000016.10:83810521:AAAAAAAAAAAA… NC_000016.10:83810521:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	NC_000016.10:83810521:AAAAAAAAAAAA… NC_000016.10:83810521:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss4305454331, ss5495120443	NC_000016.10:83810521:A:	NC_000016.10:83810521:AAAAAAAAAAAA… NC_000016.10:83810521:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
4147513367	NC_000016.10:83810521:AAAAAAAAAAAA… NC_000016.10:83810521:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	NC_000016.10:83810521:AAAAAAAAAAAA… NC_000016.10:83810521:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss3978084087	NC_000016.10:83810522:A:	NC_000016.10:83810521:AAAAAAAAAAAA… NC_000016.10:83810521:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss5220757421	NC_000016.9:83844126::A	NC_000016.10:83810521:AAAAAAAAAAAA… NC_000016.10:83810521:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4305454322, ss5495120440, ss5776109614	NC_000016.10:83810521::A	NC_000016.10:83810521:AAAAAAAAAAAA… NC_000016.10:83810521:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
4147513367	NC_000016.10:83810521:AAAAAAAAAAAA… NC_000016.10:83810521:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	NC_000016.10:83810521:AAAAAAAAAAAA… NC_000016.10:83810521:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3978084085	NC_000016.10:83810523::A	NC_000016.10:83810521:AAAAAAAAAAAA… NC_000016.10:83810521:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss1708631622, ss1708631651, ss5220757420, ss5846764273	NC_000016.9:83844126::AA	NC_000016.10:83810521:AAAAAAAAAAAA… NC_000016.10:83810521:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4305454323, ss5495120441, ss5776109613	NC_000016.10:83810521::AA	NC_000016.10:83810521:AAAAAAAAAAAA… NC_000016.10:83810521:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
4147513367	NC_000016.10:83810521:AAAAAAAAAAAA… NC_000016.10:83810521:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	NC_000016.10:83810521:AAAAAAAAAAAA… NC_000016.10:83810521:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3978084083	NC_000016.10:83810523::AA	NC_000016.10:83810521:AAAAAAAAAAAA… NC_000016.10:83810521:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss1708631624, ss1708631654, ss3834698079, ss5220757422, ss5846764274	NC_000016.9:83844126::AAA	NC_000016.10:83810521:AAAAAAAAAAAA… NC_000016.10:83810521:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4305454324, ss5495120442, ss5776109615	NC_000016.10:83810521::AAA	NC_000016.10:83810521:AAAAAAAAAAAA… NC_000016.10:83810521:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
4147513367	NC_000016.10:83810521:AAAAAAAAAAAA… NC_000016.10:83810521:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000016.10:83810521:AAAAAAAAAAAA… NC_000016.10:83810521:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3978084082	NC_000016.10:83810523::AAA	NC_000016.10:83810521:AAAAAAAAAAAA… NC_000016.10:83810521:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5220757423, ss5846764275	NC_000016.9:83844126::AAAA	NC_000016.10:83810521:AAAAAAAAAAAA… NC_000016.10:83810521:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4305454325, ss5776109617	NC_000016.10:83810521::AAAA	NC_000016.10:83810521:AAAAAAAAAAAA… NC_000016.10:83810521:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
4147513367	NC_000016.10:83810521:AAAAAAAAAAAA… NC_000016.10:83810521:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000016.10:83810521:AAAAAAAAAAAA… NC_000016.10:83810521:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3978084084	NC_000016.10:83810523::AAAA	NC_000016.10:83810521:AAAAAAAAAAAA… NC_000016.10:83810521:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5220757424	NC_000016.9:83844126::AAAAA	NC_000016.10:83810521:AAAAAAAAAAAA… NC_000016.10:83810521:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4305454326, ss5776109618	NC_000016.10:83810521::AAAAA	NC_000016.10:83810521:AAAAAAAAAAAA… NC_000016.10:83810521:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
4147513367	NC_000016.10:83810521:AAAAAAAAAAAA… NC_000016.10:83810521:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000016.10:83810521:AAAAAAAAAAAA… NC_000016.10:83810521:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4305454327	NC_000016.10:83810521::AAAAAA	NC_000016.10:83810521:AAAAAAAAAAAA… NC_000016.10:83810521:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
4147513367	NC_000016.10:83810521:AAAAAAAAAAAA… NC_000016.10:83810521:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000016.10:83810521:AAAAAAAAAAAA… NC_000016.10:83810521:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4305454328	NC_000016.10:83810521::AAAAAAA	NC_000016.10:83810521:AAAAAAAAAAAA… NC_000016.10:83810521:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4305454329	NC_000016.10:83810521::AAAAAAAAAAA… NC_000016.10:83810521::AAAAAAAAAAAAAA	NC_000016.10:83810521:AAAAAAAAAAAA… NC_000016.10:83810521:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4305454330	NC_000016.10:83810521::AAAAAAAAAAA… NC_000016.10:83810521::AAAAAAAAAAAAAAAAA	NC_000016.10:83810521:AAAAAAAAAAAA… NC_000016.10:83810521:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss3253344086	NC_000016.10:83810521:AAAA:	NC_000016.10:83810521:AAAAAAAAAAAA… NC_000016.10:83810521:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

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

No publications for rs751338141

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

rs751338141