Name: rs60054737
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.

rs60054737

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr19:6181814-6181824 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
Alleles: del(C)₈ / del(C)₆ / delCC / delC /…
del(C)₈ / del(C)₆ / delCC / delC / dupC / dupCC / dupCCC / dup(C)₄ / dup(C)₅
Variation Type: Indel Insertion and Deletion
Frequency: (C)₁₁=0.2833 (1419/5008, 1000G)
del(C)₈=0.000 (0/422, ALFA)
del(C)₆=0.000 (0/422, ALFA) (+ 7 more)
delCC=0.000 (0/422, ALFA)
delC=0.000 (0/422, ALFA)
dupC=0.000 (0/422, ALFA)
dupCC=0.000 (0/422, ALFA)
dupCCC=0.000 (0/422, ALFA)
dup(C)₄=0.000 (0/422, ALFA)
dup(C)₅=0.000 (0/422, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: ACSBG2 : Intron Variant
LOC105372255 : 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	422	CCCCCCCCCCC=1.000	CCC=0.000, CCCCC=0.000, CCCCCCCCC=0.000, CCCCCCCCCC=0.000, CCCCCCCCCCCC=0.000, CCCCCCCCCCCCC=0.000, CCCCCCCCCCCCCC=0.000, CCCCCCCCCCCCCCC=0.000, CCCCCCCCCCCCCCCC=0.000	1.0	0.0	0.0	N/A
European	Sub	144	CCCCCCCCCCC=1.000	CCC=0.000, CCCCC=0.000, CCCCCCCCC=0.000, CCCCCCCCCC=0.000, CCCCCCCCCCCC=0.000, CCCCCCCCCCCCC=0.000, CCCCCCCCCCCCCC=0.000, CCCCCCCCCCCCCCC=0.000, CCCCCCCCCCCCCCCC=0.000	1.0	0.0	0.0	N/A
African	Sub	248	CCCCCCCCCCC=1.000	CCC=0.000, CCCCC=0.000, CCCCCCCCC=0.000, CCCCCCCCCC=0.000, CCCCCCCCCCCC=0.000, CCCCCCCCCCCCC=0.000, CCCCCCCCCCCCCC=0.000, CCCCCCCCCCCCCCC=0.000, CCCCCCCCCCCCCCCC=0.000	1.0	0.0	0.0	N/A
African Others	Sub	10	CCCCCCCCCCC=1.0	CCC=0.0, CCCCC=0.0, CCCCCCCCC=0.0, CCCCCCCCCC=0.0, CCCCCCCCCCCC=0.0, CCCCCCCCCCCCC=0.0, CCCCCCCCCCCCCC=0.0, CCCCCCCCCCCCCCC=0.0, CCCCCCCCCCCCCCCC=0.0	1.0	0.0	0.0	N/A
African American	Sub	238	CCCCCCCCCCC=1.000	CCC=0.000, CCCCC=0.000, CCCCCCCCC=0.000, CCCCCCCCCC=0.000, CCCCCCCCCCCC=0.000, CCCCCCCCCCCCC=0.000, CCCCCCCCCCCCCC=0.000, CCCCCCCCCCCCCCC=0.000, CCCCCCCCCCCCCCCC=0.000	1.0	0.0	0.0	N/A
Asian	Sub	0	CCCCCCCCCCC=0	CCC=0, CCCCC=0, CCCCCCCCC=0, CCCCCCCCCC=0, CCCCCCCCCCCC=0, CCCCCCCCCCCCC=0, CCCCCCCCCCCCCC=0, CCCCCCCCCCCCCCC=0, CCCCCCCCCCCCCCCC=0	0	0	0	N/A
East Asian	Sub	0	CCCCCCCCCCC=0	CCC=0, CCCCC=0, CCCCCCCCC=0, CCCCCCCCCC=0, CCCCCCCCCCCC=0, CCCCCCCCCCCCC=0, CCCCCCCCCCCCCC=0, CCCCCCCCCCCCCCC=0, CCCCCCCCCCCCCCCC=0	0	0	0	N/A
Other Asian	Sub	0	CCCCCCCCCCC=0	CCC=0, CCCCC=0, CCCCCCCCC=0, CCCCCCCCCC=0, CCCCCCCCCCCC=0, CCCCCCCCCCCCC=0, CCCCCCCCCCCCCC=0, CCCCCCCCCCCCCCC=0, CCCCCCCCCCCCCCCC=0	0	0	0	N/A
Latin American 1	Sub	4	CCCCCCCCCCC=1.0	CCC=0.0, CCCCC=0.0, CCCCCCCCC=0.0, CCCCCCCCCC=0.0, CCCCCCCCCCCC=0.0, CCCCCCCCCCCCC=0.0, CCCCCCCCCCCCCC=0.0, CCCCCCCCCCCCCCC=0.0, CCCCCCCCCCCCCCCC=0.0	1.0	0.0	0.0	N/A
Latin American 2	Sub	4	CCCCCCCCCCC=1.0	CCC=0.0, CCCCC=0.0, CCCCCCCCC=0.0, CCCCCCCCCC=0.0, CCCCCCCCCCCC=0.0, CCCCCCCCCCCCC=0.0, CCCCCCCCCCCCCC=0.0, CCCCCCCCCCCCCCC=0.0, CCCCCCCCCCCCCCCC=0.0	1.0	0.0	0.0	N/A
South Asian	Sub	4	CCCCCCCCCCC=1.0	CCC=0.0, CCCCC=0.0, CCCCCCCCC=0.0, CCCCCCCCCC=0.0, CCCCCCCCCCCC=0.0, CCCCCCCCCCCCC=0.0, CCCCCCCCCCCCCC=0.0, CCCCCCCCCCCCCCC=0.0, CCCCCCCCCCCCCCCC=0.0	1.0	0.0	0.0	N/A
Other	Sub	18	CCCCCCCCCCC=1.00	CCC=0.00, CCCCC=0.00, CCCCCCCCC=0.00, CCCCCCCCCC=0.00, CCCCCCCCCCCC=0.00, CCCCCCCCCCCCC=0.00, CCCCCCCCCCCCCC=0.00, CCCCCCCCCCCCCCC=0.00, CCCCCCCCCCCCCCCC=0.00	1.0	0.0	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
1000Genomes	Global	Study-wide	5008	(C)₁₁=0.2833	delC=0.7167
1000Genomes	African	Sub	1322	(C)₁₁=0.4198	delC=0.5802
1000Genomes	East Asian	Sub	1008	(C)₁₁=0.1329	delC=0.8671
1000Genomes	Europe	Sub	1006	(C)₁₁=0.2893	delC=0.7107
1000Genomes	South Asian	Sub	978	(C)₁₁=0.268	delC=0.732
1000Genomes	American	Sub	694	(C)₁₁=0.255	delC=0.745
Allele Frequency Aggregator	Total	Global	422	(C)₁₁=1.000	del(C)₈=0.000, del(C)₆=0.000, delCC=0.000, delC=0.000, dupC=0.000, dupCC=0.000, dupCCC=0.000, dup(C)₄=0.000, dup(C)₅=0.000
Allele Frequency Aggregator	African	Sub	248	(C)₁₁=1.000	del(C)₈=0.000, del(C)₆=0.000, delCC=0.000, delC=0.000, dupC=0.000, dupCC=0.000, dupCCC=0.000, dup(C)₄=0.000, dup(C)₅=0.000
Allele Frequency Aggregator	European	Sub	144	(C)₁₁=1.000	del(C)₈=0.000, del(C)₆=0.000, delCC=0.000, delC=0.000, dupC=0.000, dupCC=0.000, dupCCC=0.000, dup(C)₄=0.000, dup(C)₅=0.000
Allele Frequency Aggregator	Other	Sub	18	(C)₁₁=1.00	del(C)₈=0.00, del(C)₆=0.00, delCC=0.00, delC=0.00, dupC=0.00, dupCC=0.00, dupCCC=0.00, dup(C)₄=0.00, dup(C)₅=0.00
Allele Frequency Aggregator	Latin American 1	Sub	4	(C)₁₁=1.0	del(C)₈=0.0, del(C)₆=0.0, delCC=0.0, delC=0.0, dupC=0.0, dupCC=0.0, dupCCC=0.0, dup(C)₄=0.0, dup(C)₅=0.0
Allele Frequency Aggregator	Latin American 2	Sub	4	(C)₁₁=1.0	del(C)₈=0.0, del(C)₆=0.0, delCC=0.0, delC=0.0, dupC=0.0, dupCC=0.0, dupCCC=0.0, dup(C)₄=0.0, dup(C)₅=0.0
Allele Frequency Aggregator	South Asian	Sub	4	(C)₁₁=1.0	del(C)₈=0.0, del(C)₆=0.0, delCC=0.0, delC=0.0, dupC=0.0, dupCC=0.0, dupCCC=0.0, dup(C)₄=0.0, dup(C)₅=0.0
Allele Frequency Aggregator	Asian	Sub	0	(C)₁₁=0	del(C)₈=0, del(C)₆=0, delCC=0, delC=0, dupC=0, dupCC=0, dupCCC=0, dup(C)₄=0, dup(C)₅=0

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 19	NC_000019.10:g.6181817_6181824del
GRCh38.p14 chr 19	NC_000019.10:g.6181819_6181824del
GRCh38.p14 chr 19	NC_000019.10:g.6181823_6181824del
GRCh38.p14 chr 19	NC_000019.10:g.6181824del
GRCh38.p14 chr 19	NC_000019.10:g.6181824dup
GRCh38.p14 chr 19	NC_000019.10:g.6181823_6181824dup
GRCh38.p14 chr 19	NC_000019.10:g.6181822_6181824dup
GRCh38.p14 chr 19	NC_000019.10:g.6181821_6181824dup
GRCh38.p14 chr 19	NC_000019.10:g.6181820_6181824dup
GRCh37.p13 chr 19	NC_000019.9:g.6181828_6181835del
GRCh37.p13 chr 19	NC_000019.9:g.6181830_6181835del
GRCh37.p13 chr 19	NC_000019.9:g.6181834_6181835del
GRCh37.p13 chr 19	NC_000019.9:g.6181835del
GRCh37.p13 chr 19	NC_000019.9:g.6181835dup
GRCh37.p13 chr 19	NC_000019.9:g.6181834_6181835dup
GRCh37.p13 chr 19	NC_000019.9:g.6181833_6181835dup
GRCh37.p13 chr 19	NC_000019.9:g.6181832_6181835dup
GRCh37.p13 chr 19	NC_000019.9:g.6181831_6181835dup

Gene: ACSBG2, acyl-CoA synthetase bubblegum family member 2 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ACSBG2 transcript variant 1	NM_001289177.2:c.907-934_… NM_001289177.2:c.907-934_907-927del	N/A	Intron Variant
ACSBG2 transcript variant 3	NM_001289178.2:c.907-934_… NM_001289178.2:c.907-934_907-927del	N/A	Intron Variant
ACSBG2 transcript variant 4	NM_001289179.2:c.907-934_… NM_001289179.2:c.907-934_907-927del	N/A	Intron Variant
ACSBG2 transcript variant 5	NM_001289180.2:c.346-934_… NM_001289180.2:c.346-934_346-927del	N/A	Intron Variant
ACSBG2 transcript variant 6	NM_001321384.2:c.757-934_… NM_001321384.2:c.757-934_757-927del	N/A	Intron Variant
ACSBG2 transcript variant 2	NM_030924.5:c.907-934_907… NM_030924.5:c.907-934_907-927del	N/A	Intron Variant
ACSBG2 transcript variant X4	XM_005259653.4:c.907-934_… XM_005259653.4:c.907-934_907-927del	N/A	Intron Variant
ACSBG2 transcript variant X6	XM_011528329.2:c.286-934_… XM_011528329.2:c.286-934_286-927del	N/A	Intron Variant
ACSBG2 transcript variant X1	XM_017027332.3:c.907-934_… XM_017027332.3:c.907-934_907-927del	N/A	Intron Variant
ACSBG2 transcript variant X2	XM_017027333.2:c.907-934_… XM_017027333.2:c.907-934_907-927del	N/A	Intron Variant
ACSBG2 transcript variant X3	XM_047439477.1:c.739-934_… XM_047439477.1:c.739-934_739-927del	N/A	Intron Variant
ACSBG2 transcript variant X5	XM_047439478.1:c.346-934_… XM_047439478.1:c.346-934_346-927del	N/A	Intron Variant

Gene: LOC105372255, uncharacterized LOC105372255 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LOC105372255 transcript variant X1	XR_936282.3:n.	N/A	Intron Variant
LOC105372255 transcript variant X3	XR_936283.3:n.	N/A	Intron Variant
LOC105372255 transcript variant X2	XR_936284.4:n.	N/A	Intron Variant
LOC105372255 transcript variant X4	XR_936285.3:n.	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	(C)₁₁=	del(C)₈	del(C)₆	delCC	delC	dupC	dupCC	dupCCC	dup(C)₄	dup(C)₅
GRCh38.p14 chr 19	NC_000019.10:g.6181814_6181824=	NC_000019.10:g.6181817_6181824del	NC_000019.10:g.6181819_6181824del	NC_000019.10:g.6181823_6181824del	NC_000019.10:g.6181824del	NC_000019.10:g.6181824dup	NC_000019.10:g.6181823_6181824dup	NC_000019.10:g.6181822_6181824dup	NC_000019.10:g.6181821_6181824dup	NC_000019.10:g.6181820_6181824dup
GRCh37.p13 chr 19	NC_000019.9:g.6181825_6181835=	NC_000019.9:g.6181828_6181835del	NC_000019.9:g.6181830_6181835del	NC_000019.9:g.6181834_6181835del	NC_000019.9:g.6181835del	NC_000019.9:g.6181835dup	NC_000019.9:g.6181834_6181835dup	NC_000019.9:g.6181833_6181835dup	NC_000019.9:g.6181832_6181835dup	NC_000019.9:g.6181831_6181835dup
ACSBG2 transcript variant 1	NM_001289177.2:c.907-937=	NM_001289177.2:c.907-934_907-927del	NM_001289177.2:c.907-932_907-927del	NM_001289177.2:c.907-928_907-927del	NM_001289177.2:c.907-927del	NM_001289177.2:c.907-927dup	NM_001289177.2:c.907-928_907-927dup	NM_001289177.2:c.907-929_907-927dup	NM_001289177.2:c.907-930_907-927dup	NM_001289177.2:c.907-931_907-927dup
ACSBG2 transcript variant 3	NM_001289178.2:c.907-937=	NM_001289178.2:c.907-934_907-927del	NM_001289178.2:c.907-932_907-927del	NM_001289178.2:c.907-928_907-927del	NM_001289178.2:c.907-927del	NM_001289178.2:c.907-927dup	NM_001289178.2:c.907-928_907-927dup	NM_001289178.2:c.907-929_907-927dup	NM_001289178.2:c.907-930_907-927dup	NM_001289178.2:c.907-931_907-927dup
ACSBG2 transcript variant 4	NM_001289179.2:c.907-937=	NM_001289179.2:c.907-934_907-927del	NM_001289179.2:c.907-932_907-927del	NM_001289179.2:c.907-928_907-927del	NM_001289179.2:c.907-927del	NM_001289179.2:c.907-927dup	NM_001289179.2:c.907-928_907-927dup	NM_001289179.2:c.907-929_907-927dup	NM_001289179.2:c.907-930_907-927dup	NM_001289179.2:c.907-931_907-927dup
ACSBG2 transcript variant 5	NM_001289180.2:c.346-937=	NM_001289180.2:c.346-934_346-927del	NM_001289180.2:c.346-932_346-927del	NM_001289180.2:c.346-928_346-927del	NM_001289180.2:c.346-927del	NM_001289180.2:c.346-927dup	NM_001289180.2:c.346-928_346-927dup	NM_001289180.2:c.346-929_346-927dup	NM_001289180.2:c.346-930_346-927dup	NM_001289180.2:c.346-931_346-927dup
ACSBG2 transcript variant 6	NM_001321384.2:c.757-937=	NM_001321384.2:c.757-934_757-927del	NM_001321384.2:c.757-932_757-927del	NM_001321384.2:c.757-928_757-927del	NM_001321384.2:c.757-927del	NM_001321384.2:c.757-927dup	NM_001321384.2:c.757-928_757-927dup	NM_001321384.2:c.757-929_757-927dup	NM_001321384.2:c.757-930_757-927dup	NM_001321384.2:c.757-931_757-927dup
ACSBG2 transcript	NM_030924.3:c.907-937=	NM_030924.3:c.907-934_907-927del	NM_030924.3:c.907-932_907-927del	NM_030924.3:c.907-928_907-927del	NM_030924.3:c.907-927del	NM_030924.3:c.907-927dup	NM_030924.3:c.907-928_907-927dup	NM_030924.3:c.907-929_907-927dup	NM_030924.3:c.907-930_907-927dup	NM_030924.3:c.907-931_907-927dup
ACSBG2 transcript variant 2	NM_030924.5:c.907-937=	NM_030924.5:c.907-934_907-927del	NM_030924.5:c.907-932_907-927del	NM_030924.5:c.907-928_907-927del	NM_030924.5:c.907-927del	NM_030924.5:c.907-927dup	NM_030924.5:c.907-928_907-927dup	NM_030924.5:c.907-929_907-927dup	NM_030924.5:c.907-930_907-927dup	NM_030924.5:c.907-931_907-927dup
ACSBG2 transcript variant X1	XM_005259649.1:c.907-937=	XM_005259649.1:c.907-934_907-927del	XM_005259649.1:c.907-932_907-927del	XM_005259649.1:c.907-928_907-927del	XM_005259649.1:c.907-927del	XM_005259649.1:c.907-927dup	XM_005259649.1:c.907-928_907-927dup	XM_005259649.1:c.907-929_907-927dup	XM_005259649.1:c.907-930_907-927dup	XM_005259649.1:c.907-931_907-927dup
ACSBG2 transcript variant X2	XM_005259650.1:c.907-937=	XM_005259650.1:c.907-934_907-927del	XM_005259650.1:c.907-932_907-927del	XM_005259650.1:c.907-928_907-927del	XM_005259650.1:c.907-927del	XM_005259650.1:c.907-927dup	XM_005259650.1:c.907-928_907-927dup	XM_005259650.1:c.907-929_907-927dup	XM_005259650.1:c.907-930_907-927dup	XM_005259650.1:c.907-931_907-927dup
ACSBG2 transcript variant X3	XM_005259651.1:c.907-937=	XM_005259651.1:c.907-934_907-927del	XM_005259651.1:c.907-932_907-927del	XM_005259651.1:c.907-928_907-927del	XM_005259651.1:c.907-927del	XM_005259651.1:c.907-927dup	XM_005259651.1:c.907-928_907-927dup	XM_005259651.1:c.907-929_907-927dup	XM_005259651.1:c.907-930_907-927dup	XM_005259651.1:c.907-931_907-927dup
ACSBG2 transcript variant X4	XM_005259652.1:c.757-937=	XM_005259652.1:c.757-934_757-927del	XM_005259652.1:c.757-932_757-927del	XM_005259652.1:c.757-928_757-927del	XM_005259652.1:c.757-927del	XM_005259652.1:c.757-927dup	XM_005259652.1:c.757-928_757-927dup	XM_005259652.1:c.757-929_757-927dup	XM_005259652.1:c.757-930_757-927dup	XM_005259652.1:c.757-931_757-927dup
ACSBG2 transcript variant X5	XM_005259653.1:c.907-937=	XM_005259653.1:c.907-934_907-927del	XM_005259653.1:c.907-932_907-927del	XM_005259653.1:c.907-928_907-927del	XM_005259653.1:c.907-927del	XM_005259653.1:c.907-927dup	XM_005259653.1:c.907-928_907-927dup	XM_005259653.1:c.907-929_907-927dup	XM_005259653.1:c.907-930_907-927dup	XM_005259653.1:c.907-931_907-927dup
ACSBG2 transcript variant X4	XM_005259653.4:c.907-937=	XM_005259653.4:c.907-934_907-927del	XM_005259653.4:c.907-932_907-927del	XM_005259653.4:c.907-928_907-927del	XM_005259653.4:c.907-927del	XM_005259653.4:c.907-927dup	XM_005259653.4:c.907-928_907-927dup	XM_005259653.4:c.907-929_907-927dup	XM_005259653.4:c.907-930_907-927dup	XM_005259653.4:c.907-931_907-927dup
ACSBG2 transcript variant X6	XM_005259654.1:c.346-937=	XM_005259654.1:c.346-934_346-927del	XM_005259654.1:c.346-932_346-927del	XM_005259654.1:c.346-928_346-927del	XM_005259654.1:c.346-927del	XM_005259654.1:c.346-927dup	XM_005259654.1:c.346-928_346-927dup	XM_005259654.1:c.346-929_346-927dup	XM_005259654.1:c.346-930_346-927dup	XM_005259654.1:c.346-931_346-927dup
ACSBG2 transcript variant X6	XM_011528329.2:c.286-937=	XM_011528329.2:c.286-934_286-927del	XM_011528329.2:c.286-932_286-927del	XM_011528329.2:c.286-928_286-927del	XM_011528329.2:c.286-927del	XM_011528329.2:c.286-927dup	XM_011528329.2:c.286-928_286-927dup	XM_011528329.2:c.286-929_286-927dup	XM_011528329.2:c.286-930_286-927dup	XM_011528329.2:c.286-931_286-927dup
ACSBG2 transcript variant X1	XM_017027332.3:c.907-937=	XM_017027332.3:c.907-934_907-927del	XM_017027332.3:c.907-932_907-927del	XM_017027332.3:c.907-928_907-927del	XM_017027332.3:c.907-927del	XM_017027332.3:c.907-927dup	XM_017027332.3:c.907-928_907-927dup	XM_017027332.3:c.907-929_907-927dup	XM_017027332.3:c.907-930_907-927dup	XM_017027332.3:c.907-931_907-927dup
ACSBG2 transcript variant X2	XM_017027333.2:c.907-937=	XM_017027333.2:c.907-934_907-927del	XM_017027333.2:c.907-932_907-927del	XM_017027333.2:c.907-928_907-927del	XM_017027333.2:c.907-927del	XM_017027333.2:c.907-927dup	XM_017027333.2:c.907-928_907-927dup	XM_017027333.2:c.907-929_907-927dup	XM_017027333.2:c.907-930_907-927dup	XM_017027333.2:c.907-931_907-927dup
ACSBG2 transcript variant X3	XM_047439477.1:c.739-937=	XM_047439477.1:c.739-934_739-927del	XM_047439477.1:c.739-932_739-927del	XM_047439477.1:c.739-928_739-927del	XM_047439477.1:c.739-927del	XM_047439477.1:c.739-927dup	XM_047439477.1:c.739-928_739-927dup	XM_047439477.1:c.739-929_739-927dup	XM_047439477.1:c.739-930_739-927dup	XM_047439477.1:c.739-931_739-927dup
ACSBG2 transcript variant X5	XM_047439478.1:c.346-937=	XM_047439478.1:c.346-934_346-927del	XM_047439478.1:c.346-932_346-927del	XM_047439478.1:c.346-928_346-927del	XM_047439478.1:c.346-927del	XM_047439478.1:c.346-927dup	XM_047439478.1:c.346-928_346-927dup	XM_047439478.1:c.346-929_346-927dup	XM_047439478.1:c.346-930_346-927dup	XM_047439478.1:c.346-931_346-927dup

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#.

52 SubSNP, 25 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss79850735	Dec 15, 2007 (129)
2	HUMANGENOME_JCVI	ss95720481	Dec 05, 2013 (138)
3	PJP	ss294952364	May 09, 2011 (137)
4	PJP	ss294952365	May 09, 2011 (134)
5	SSMP	ss664457273	Apr 01, 2015 (144)
6	1000GENOMES	ss1377900626	Aug 21, 2014 (142)
7	SWEGEN	ss3017031673	Nov 08, 2017 (151)
8	EVA_DECODE	ss3702268906	Jul 13, 2019 (153)
9	EVA_DECODE	ss3702268907	Jul 13, 2019 (153)
10	EVA_DECODE	ss3702268908	Jul 13, 2019 (153)
11	EVA_DECODE	ss3702268909	Jul 13, 2019 (153)
12	EVA_DECODE	ss3702268910	Jul 13, 2019 (153)
13	EVA_DECODE	ss3702268911	Jul 13, 2019 (153)
14	EVA_DECODE	ss3702268914	Jul 13, 2019 (153)
15	ACPOP	ss3742821470	Jul 13, 2019 (153)
16	ACPOP	ss3742821471	Jul 13, 2019 (153)
17	ACPOP	ss3742821472	Jul 13, 2019 (153)
18	ACPOP	ss3742821473	Jul 13, 2019 (153)
19	INMEGENXS	ss3745627733	Jul 13, 2019 (153)
20	PACBIO	ss3788456398	Jul 13, 2019 (153)
21	PACBIO	ss3793378123	Jul 13, 2019 (153)
22	PACBIO	ss3793378124	Jul 13, 2019 (153)
23	PACBIO	ss3798264705	Jul 13, 2019 (153)
24	KHV_HUMAN_GENOMES	ss3821022727	Jul 13, 2019 (153)
25	EVA	ss3835331245	Apr 27, 2020 (154)
26	GNOMAD	ss4327042690	Apr 27, 2021 (155)
27	GNOMAD	ss4327042692	Apr 27, 2021 (155)
28	GNOMAD	ss4327042693	Apr 27, 2021 (155)
29	GNOMAD	ss4327042694	Apr 27, 2021 (155)
30	GNOMAD	ss4327042695	Apr 27, 2021 (155)
31	GNOMAD	ss4327042698	Apr 27, 2021 (155)
32	GNOMAD	ss4327042699	Apr 27, 2021 (155)
33	GNOMAD	ss4327042700	Apr 27, 2021 (155)
34	GNOMAD	ss4327042701	Apr 27, 2021 (155)
35	TOMMO_GENOMICS	ss5226560969	Apr 27, 2021 (155)
36	TOMMO_GENOMICS	ss5226560970	Apr 27, 2021 (155)
37	TOMMO_GENOMICS	ss5226560971	Apr 27, 2021 (155)
38	TOMMO_GENOMICS	ss5226560972	Apr 27, 2021 (155)
39	TOMMO_GENOMICS	ss5226560973	Apr 27, 2021 (155)
40	1000G_HIGH_COVERAGE	ss5306362043	Oct 16, 2022 (156)
41	1000G_HIGH_COVERAGE	ss5306362044	Oct 16, 2022 (156)
42	1000G_HIGH_COVERAGE	ss5306362045	Oct 16, 2022 (156)
43	1000G_HIGH_COVERAGE	ss5306362046	Oct 16, 2022 (156)
44	HUGCELL_USP	ss5499009332	Oct 16, 2022 (156)
45	HUGCELL_USP	ss5499009333	Oct 16, 2022 (156)
46	HUGCELL_USP	ss5499009334	Oct 16, 2022 (156)
47	HUGCELL_USP	ss5499009335	Oct 16, 2022 (156)
48	TOMMO_GENOMICS	ss5784778855	Oct 16, 2022 (156)
49	TOMMO_GENOMICS	ss5784778856	Oct 16, 2022 (156)
50	TOMMO_GENOMICS	ss5784778857	Oct 16, 2022 (156)
51	TOMMO_GENOMICS	ss5784778858	Oct 16, 2022 (156)
52	TOMMO_GENOMICS	ss5784778859	Oct 16, 2022 (156)
53	1000Genomes	NC_000019.9 - 6181825	Oct 12, 2018 (152)
54	gnomAD - Genomes Submission ignored due to conflicting rows: Row 533074654 (NC_000019.10:6181813::C 3174/49470) Row 533074656 (NC_000019.10:6181813::CC 12816/48948) Row 533074657 (NC_000019.10:6181813::CCC 883/49412)...	-	Apr 27, 2021 (155)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 533074654 (NC_000019.10:6181813::C 3174/49470) Row 533074656 (NC_000019.10:6181813::CC 12816/48948) Row 533074657 (NC_000019.10:6181813::CCC 883/49412)...	-	Apr 27, 2021 (155)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 533074654 (NC_000019.10:6181813::C 3174/49470) Row 533074656 (NC_000019.10:6181813::CC 12816/48948) Row 533074657 (NC_000019.10:6181813::CCC 883/49412)...	-	Apr 27, 2021 (155)
57	gnomAD - Genomes Submission ignored due to conflicting rows: Row 533074654 (NC_000019.10:6181813::C 3174/49470) Row 533074656 (NC_000019.10:6181813::CC 12816/48948) Row 533074657 (NC_000019.10:6181813::CCC 883/49412)...	-	Apr 27, 2021 (155)
58	gnomAD - Genomes Submission ignored due to conflicting rows: Row 533074654 (NC_000019.10:6181813::C 3174/49470) Row 533074656 (NC_000019.10:6181813::CC 12816/48948) Row 533074657 (NC_000019.10:6181813::CCC 883/49412)...	-	Apr 27, 2021 (155)
59	gnomAD - Genomes Submission ignored due to conflicting rows: Row 533074654 (NC_000019.10:6181813::C 3174/49470) Row 533074656 (NC_000019.10:6181813::CC 12816/48948) Row 533074657 (NC_000019.10:6181813::CCC 883/49412)...	-	Apr 27, 2021 (155)
60	gnomAD - Genomes Submission ignored due to conflicting rows: Row 533074654 (NC_000019.10:6181813::C 3174/49470) Row 533074656 (NC_000019.10:6181813::CC 12816/48948) Row 533074657 (NC_000019.10:6181813::CCC 883/49412)...	-	Apr 27, 2021 (155)
61	gnomAD - Genomes Submission ignored due to conflicting rows: Row 533074654 (NC_000019.10:6181813::C 3174/49470) Row 533074656 (NC_000019.10:6181813::CC 12816/48948) Row 533074657 (NC_000019.10:6181813::CCC 883/49412)...	-	Apr 27, 2021 (155)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 533074654 (NC_000019.10:6181813::C 3174/49470) Row 533074656 (NC_000019.10:6181813::CC 12816/48948) Row 533074657 (NC_000019.10:6181813::CCC 883/49412)...	-	Apr 27, 2021 (155)
63	Northern Sweden Submission ignored due to conflicting rows: Row 16106335 (NC_000019.9:6181824::CC 130/478) Row 16106336 (NC_000019.9:6181824::CCC 8/478) Row 16106337 (NC_000019.9:6181824:C: 275/478)...	-	Jul 13, 2019 (153)
64	Northern Sweden Submission ignored due to conflicting rows: Row 16106335 (NC_000019.9:6181824::CC 130/478) Row 16106336 (NC_000019.9:6181824::CCC 8/478) Row 16106337 (NC_000019.9:6181824:C: 275/478)...	-	Jul 13, 2019 (153)
65	Northern Sweden Submission ignored due to conflicting rows: Row 16106335 (NC_000019.9:6181824::CC 130/478) Row 16106336 (NC_000019.9:6181824::CCC 8/478) Row 16106337 (NC_000019.9:6181824:C: 275/478)...	-	Jul 13, 2019 (153)
66	Northern Sweden Submission ignored due to conflicting rows: Row 16106335 (NC_000019.9:6181824::CC 130/478) Row 16106336 (NC_000019.9:6181824::CCC 8/478) Row 16106337 (NC_000019.9:6181824:C: 275/478)...	-	Jul 13, 2019 (153)
67	8.3KJPN Submission ignored due to conflicting rows: Row 84530276 (NC_000019.9:6181824::C 1615/13002) Row 84530277 (NC_000019.9:6181824:C: 4018/13002) Row 84530278 (NC_000019.9:6181824::CC 4300/13002)...	-	Apr 27, 2021 (155)
68	8.3KJPN Submission ignored due to conflicting rows: Row 84530276 (NC_000019.9:6181824::C 1615/13002) Row 84530277 (NC_000019.9:6181824:C: 4018/13002) Row 84530278 (NC_000019.9:6181824::CC 4300/13002)...	-	Apr 27, 2021 (155)
69	8.3KJPN Submission ignored due to conflicting rows: Row 84530276 (NC_000019.9:6181824::C 1615/13002) Row 84530277 (NC_000019.9:6181824:C: 4018/13002) Row 84530278 (NC_000019.9:6181824::CC 4300/13002)...	-	Apr 27, 2021 (155)
70	8.3KJPN Submission ignored due to conflicting rows: Row 84530276 (NC_000019.9:6181824::C 1615/13002) Row 84530277 (NC_000019.9:6181824:C: 4018/13002) Row 84530278 (NC_000019.9:6181824::CC 4300/13002)...	-	Apr 27, 2021 (155)
71	8.3KJPN Submission ignored due to conflicting rows: Row 84530276 (NC_000019.9:6181824::C 1615/13002) Row 84530277 (NC_000019.9:6181824:C: 4018/13002) Row 84530278 (NC_000019.9:6181824::CC 4300/13002)...	-	Apr 27, 2021 (155)
72	14KJPN Submission ignored due to conflicting rows: Row 118615959 (NC_000019.10:6181813:C: 6444/25128) Row 118615960 (NC_000019.10:6181813::CC 9188/25128) Row 118615961 (NC_000019.10:6181813::C 3039/25128)...	-	Oct 16, 2022 (156)
73	14KJPN Submission ignored due to conflicting rows: Row 118615959 (NC_000019.10:6181813:C: 6444/25128) Row 118615960 (NC_000019.10:6181813::CC 9188/25128) Row 118615961 (NC_000019.10:6181813::C 3039/25128)...	-	Oct 16, 2022 (156)
74	14KJPN Submission ignored due to conflicting rows: Row 118615959 (NC_000019.10:6181813:C: 6444/25128) Row 118615960 (NC_000019.10:6181813::CC 9188/25128) Row 118615961 (NC_000019.10:6181813::C 3039/25128)...	-	Oct 16, 2022 (156)
75	14KJPN Submission ignored due to conflicting rows: Row 118615959 (NC_000019.10:6181813:C: 6444/25128) Row 118615960 (NC_000019.10:6181813::CC 9188/25128) Row 118615961 (NC_000019.10:6181813::C 3039/25128)...	-	Oct 16, 2022 (156)
76	14KJPN Submission ignored due to conflicting rows: Row 118615959 (NC_000019.10:6181813:C: 6444/25128) Row 118615960 (NC_000019.10:6181813::CC 9188/25128) Row 118615961 (NC_000019.10:6181813::C 3039/25128)...	-	Oct 16, 2022 (156)
77	ALFA	NC_000019.10 - 6181814	Apr 27, 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).

Associated ID	History Updated (Build)
rs148259767	May 11, 2012 (137)
rs372284689	May 13, 2013 (138)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4327042701	NC_000019.10:6181813:CCCCCCCC:	NC_000019.10:6181813:CCCCCCCCCCC:C… NC_000019.10:6181813:CCCCCCCCCCC:CCC	(self)
9327575159	NC_000019.10:6181813:CCCCCCCCCCC:C… NC_000019.10:6181813:CCCCCCCCCCC:CCC	NC_000019.10:6181813:CCCCCCCCCCC:C… NC_000019.10:6181813:CCCCCCCCCCC:CCC	(self)
ss4327042700	NC_000019.10:6181813:CCCCCC:	NC_000019.10:6181813:CCCCCCCCCCC:C… NC_000019.10:6181813:CCCCCCCCCCC:CCCCC	(self)
9327575159	NC_000019.10:6181813:CCCCCCCCCCC:C… NC_000019.10:6181813:CCCCCCCCCCC:CCCCC	NC_000019.10:6181813:CCCCCCCCCCC:C… NC_000019.10:6181813:CCCCCCCCCCC:CCCCC	(self)
ss4327042699	NC_000019.10:6181813:CC:	NC_000019.10:6181813:CCCCCCCCCCC:C… NC_000019.10:6181813:CCCCCCCCCCC:CCCCCCCCC	(self)
9327575159	NC_000019.10:6181813:CCCCCCCCCCC:C… NC_000019.10:6181813:CCCCCCCCCCC:CCCCCCCCC	NC_000019.10:6181813:CCCCCCCCCCC:C… NC_000019.10:6181813:CCCCCCCCCCC:CCCCCCCCC	(self)
ss294952364	NC_000019.8:6132824:C:	NC_000019.10:6181813:CCCCCCCCCCC:C… NC_000019.10:6181813:CCCCCCCCCCC:CCCCCCCCCC	(self)
ss294952365	NC_000019.8:6132834:C:	NC_000019.10:6181813:CCCCCCCCCCC:C… NC_000019.10:6181813:CCCCCCCCCCC:CCCCCCCCCC	(self)
75589155, ss664457273, ss1377900626, ss3017031673, ss3742821472, ss5226560970	NC_000019.9:6181824:C:	NC_000019.10:6181813:CCCCCCCCCCC:C… NC_000019.10:6181813:CCCCCCCCCCC:CCCCCCCCCC	(self)
ss3702268911, ss3821022727, ss4327042698, ss5499009333, ss5784778855	NC_000019.10:6181813:C:	NC_000019.10:6181813:CCCCCCCCCCC:C… NC_000019.10:6181813:CCCCCCCCCCC:CCCCCCCCCC	(self)
9327575159	NC_000019.10:6181813:CCCCCCCCCCC:C… NC_000019.10:6181813:CCCCCCCCCCC:CCCCCCCCCC	NC_000019.10:6181813:CCCCCCCCCCC:C… NC_000019.10:6181813:CCCCCCCCCCC:CCCCCCCCCC	(self)
ss95720481	NT_011255.14:6121834:C:	NC_000019.10:6181813:CCCCCCCCCCC:C… NC_000019.10:6181813:CCCCCCCCCCC:CCCCCCCCCC	(self)
ss3742821473, ss5226560969	NC_000019.9:6181824::C	NC_000019.10:6181813:CCCCCCCCCCC:C… NC_000019.10:6181813:CCCCCCCCCCC:CCCCCCCCCCCC	(self)
ss4327042690, ss5306362045, ss5499009335, ss5784778857	NC_000019.10:6181813::C	NC_000019.10:6181813:CCCCCCCCCCC:C… NC_000019.10:6181813:CCCCCCCCCCC:CCCCCCCCCCCC	(self)
9327575159	NC_000019.10:6181813:CCCCCCCCCCC:C… NC_000019.10:6181813:CCCCCCCCCCC:CCCCCCCCCCCC	NC_000019.10:6181813:CCCCCCCCCCC:C… NC_000019.10:6181813:CCCCCCCCCCC:CCCCCCCCCCCC	(self)
ss3702268910	NC_000019.10:6181814::C	NC_000019.10:6181813:CCCCCCCCCCC:C… NC_000019.10:6181813:CCCCCCCCCCC:CCCCCCCCCCCC	(self)
ss3742821470, ss3788456398, ss3793378123, ss3798264705, ss3835331245, ss5226560971	NC_000019.9:6181824::CC	NC_000019.10:6181813:CCCCCCCCCCC:C… NC_000019.10:6181813:CCCCCCCCCCC:CCCCCCCCCCCCC	(self)
ss4327042692, ss5499009332, ss5784778856	NC_000019.10:6181813::CC	NC_000019.10:6181813:CCCCCCCCCCC:C… NC_000019.10:6181813:CCCCCCCCCCC:CCCCCCCCCCCCC	(self)
9327575159	NC_000019.10:6181813:CCCCCCCCCCC:C… NC_000019.10:6181813:CCCCCCCCCCC:CCCCCCCCCCCCC	NC_000019.10:6181813:CCCCCCCCCCC:C… NC_000019.10:6181813:CCCCCCCCCCC:CCCCCCCCCCCCC	(self)
ss3702268909	NC_000019.10:6181814::CC	NC_000019.10:6181813:CCCCCCCCCCC:C… NC_000019.10:6181813:CCCCCCCCCCC:CCCCCCCCCCCCC	(self)
ss3702268914	NC_000019.10:6181823::CC	NC_000019.10:6181813:CCCCCCCCCCC:C… NC_000019.10:6181813:CCCCCCCCCCC:CCCCCCCCCCCCC	(self)
ss79850735	NT_011255.14:6121835::CC	NC_000019.10:6181813:CCCCCCCCCCC:C… NC_000019.10:6181813:CCCCCCCCCCC:CCCCCCCCCCCCC	(self)
ss3742821471, ss5226560972	NC_000019.9:6181824::CCC	NC_000019.10:6181813:CCCCCCCCCCC:C… NC_000019.10:6181813:CCCCCCCCCCC:CCCCCCCCCCCCCC	(self)
ss3745627733	NC_000019.9:6181825::CCC	NC_000019.10:6181813:CCCCCCCCCCC:C… NC_000019.10:6181813:CCCCCCCCCCC:CCCCCCCCCCCCCC	(self)
ss4327042693, ss5306362043, ss5499009334, ss5784778858	NC_000019.10:6181813::CCC	NC_000019.10:6181813:CCCCCCCCCCC:C… NC_000019.10:6181813:CCCCCCCCCCC:CCCCCCCCCCCCCC	(self)
9327575159	NC_000019.10:6181813:CCCCCCCCCCC:C… NC_000019.10:6181813:CCCCCCCCCCC:CCCCCCCCCCCCCC	NC_000019.10:6181813:CCCCCCCCCCC:C… NC_000019.10:6181813:CCCCCCCCCCC:CCCCCCCCCCCCCC	(self)
ss3702268908	NC_000019.10:6181814::CCC	NC_000019.10:6181813:CCCCCCCCCCC:C… NC_000019.10:6181813:CCCCCCCCCCC:CCCCCCCCCCCCCC	(self)
ss3793378124, ss5226560973	NC_000019.9:6181824::CCCC	NC_000019.10:6181813:CCCCCCCCCCC:C… NC_000019.10:6181813:CCCCCCCCCCC:CCCCCCCCCCCCCCC	(self)
ss4327042694, ss5306362046, ss5784778859	NC_000019.10:6181813::CCCC	NC_000019.10:6181813:CCCCCCCCCCC:C… NC_000019.10:6181813:CCCCCCCCCCC:CCCCCCCCCCCCCCC	(self)
9327575159	NC_000019.10:6181813:CCCCCCCCCCC:C… NC_000019.10:6181813:CCCCCCCCCCC:CCCCCCCCCCCCCCC	NC_000019.10:6181813:CCCCCCCCCCC:C… NC_000019.10:6181813:CCCCCCCCCCC:CCCCCCCCCCCCCCC	(self)
ss3702268907	NC_000019.10:6181814::CCCC	NC_000019.10:6181813:CCCCCCCCCCC:C… NC_000019.10:6181813:CCCCCCCCCCC:CCCCCCCCCCCCCCC	(self)
ss4327042695, ss5306362044	NC_000019.10:6181813::CCCCC	NC_000019.10:6181813:CCCCCCCCCCC:C… NC_000019.10:6181813:CCCCCCCCCCC:CCCCCCCCCCCCCCCC	(self)
9327575159	NC_000019.10:6181813:CCCCCCCCCCC:C… NC_000019.10:6181813:CCCCCCCCCCC:CCCCCCCCCCCCCCCC	NC_000019.10:6181813:CCCCCCCCCCC:C… NC_000019.10:6181813:CCCCCCCCCCC:CCCCCCCCCCCCCCCC	(self)
ss3702268906	NC_000019.10:6181814::CCCCC	NC_000019.10:6181813:CCCCCCCCCCC:C… NC_000019.10:6181813:CCCCCCCCCCC:CCCCCCCCCCCCCCCC	(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 rs60054737

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.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs60054737