Name: rs551775168
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.

rs551775168

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr14:22954731-22954748 (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)₁₀ / del(T)₈ / del(T)₅ / del…
del(T)₁₀ / del(T)₈ / del(T)₅ / del(T)₄ / delTTT / delTT / delT / dupT / dupTT / dupTTT / dup(T)₅
Variation Type: Indel Insertion and Deletion
Frequency: del(T)₁₀=0.000004 (1/264690, TOPMED)
dupT=0.00168 (30/17818, ALFA)
delT=0.2458 (1231/5008, 1000G)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: HAUS4 : Intron Variant
PRMT5-DT : 500B Downstream Variant
Publications: 0 citations
Genomic View: See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele	Ref HMOZ	HTRZ	HWEP
Total	Global	17818	TTTTTTTTTTTTTTTTTT=0.99832	TTTTTTTT=0.00000, TTTTTTTTTT=0.00000, TTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTT=0.00168, TTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTT=0.00000	0.996633	0.003367	0
European	Sub	14036	TTTTTTTTTTTTTTTTTT=0.99786	TTTTTTTT=0.00000, TTTTTTTTTT=0.00000, TTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTT=0.00214, TTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTT=0.00000	0.995725	0.004275	0
African	Sub	2376	TTTTTTTTTTTTTTTTTT=1.0000	TTTTTTTT=0.0000, TTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0000	1.0	0.0	N/A
African Others	Sub	90	TTTTTTTTTTTTTTTTTT=1.00	TTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	N/A
African American	Sub	2286	TTTTTTTTTTTTTTTTTT=1.0000	TTTTTTTT=0.0000, TTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0000	1.0	0.0	N/A
Asian	Sub	110	TTTTTTTTTTTTTTTTTT=1.000	TTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	N/A
East Asian	Sub	86	TTTTTTTTTTTTTTTTTT=1.00	TTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	N/A
Other Asian	Sub	24	TTTTTTTTTTTTTTTTTT=1.00	TTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	N/A
Latin American 1	Sub	134	TTTTTTTTTTTTTTTTTT=1.000	TTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	N/A
Latin American 2	Sub	590	TTTTTTTTTTTTTTTTTT=1.000	TTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	N/A
South Asian	Sub	98	TTTTTTTTTTTTTTTTTT=1.00	TTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	N/A
Other	Sub	474	TTTTTTTTTTTTTTTTTT=1.000	TTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	N/A

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

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	(T)₁₈=0.999996	del(T)₁₀=0.000004
Allele Frequency Aggregator	Total	Global	17818	(T)₁₈=0.99832	del(T)₁₀=0.00000, del(T)₈=0.00000, delTTT=0.00000, delTT=0.00000, delT=0.00000, dupT=0.00168, dupTT=0.00000, dupTTT=0.00000
Allele Frequency Aggregator	European	Sub	14036	(T)₁₈=0.99786	del(T)₁₀=0.00000, del(T)₈=0.00000, delTTT=0.00000, delTT=0.00000, delT=0.00000, dupT=0.00214, dupTT=0.00000, dupTTT=0.00000
Allele Frequency Aggregator	African	Sub	2376	(T)₁₈=1.0000	del(T)₁₀=0.0000, del(T)₈=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0000, dupTT=0.0000, dupTTT=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	590	(T)₁₈=1.000	del(T)₁₀=0.000, del(T)₈=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000
Allele Frequency Aggregator	Other	Sub	474	(T)₁₈=1.000	del(T)₁₀=0.000, del(T)₈=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000
Allele Frequency Aggregator	Latin American 1	Sub	134	(T)₁₈=1.000	del(T)₁₀=0.000, del(T)₈=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000
Allele Frequency Aggregator	Asian	Sub	110	(T)₁₈=1.000	del(T)₁₀=0.000, del(T)₈=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000
Allele Frequency Aggregator	South Asian	Sub	98	(T)₁₈=1.00	del(T)₁₀=0.00, del(T)₈=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00
1000Genomes	Global	Study-wide	5008	(T)₁₈=0.7542	delT=0.2458
1000Genomes	African	Sub	1322	(T)₁₈=0.6422	delT=0.3578
1000Genomes	East Asian	Sub	1008	(T)₁₈=0.8343	delT=0.1657
1000Genomes	Europe	Sub	1006	(T)₁₈=0.7714	delT=0.2286
1000Genomes	South Asian	Sub	978	(T)₁₈=0.808	delT=0.192
1000Genomes	American	Sub	694	(T)₁₈=0.751	delT=0.249

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 14	NC_000014.9:g.22954739_22954748del
GRCh38.p14 chr 14	NC_000014.9:g.22954741_22954748del
GRCh38.p14 chr 14	NC_000014.9:g.22954744_22954748del
GRCh38.p14 chr 14	NC_000014.9:g.22954745_22954748del
GRCh38.p14 chr 14	NC_000014.9:g.22954746_22954748del
GRCh38.p14 chr 14	NC_000014.9:g.22954747_22954748del
GRCh38.p14 chr 14	NC_000014.9:g.22954748del
GRCh38.p14 chr 14	NC_000014.9:g.22954748dup
GRCh38.p14 chr 14	NC_000014.9:g.22954747_22954748dup
GRCh38.p14 chr 14	NC_000014.9:g.22954746_22954748dup
GRCh38.p14 chr 14	NC_000014.9:g.22954744_22954748dup
GRCh37.p13 chr 14	NC_000014.8:g.23423948_23423957del
GRCh37.p13 chr 14	NC_000014.8:g.23423950_23423957del
GRCh37.p13 chr 14	NC_000014.8:g.23423953_23423957del
GRCh37.p13 chr 14	NC_000014.8:g.23423954_23423957del
GRCh37.p13 chr 14	NC_000014.8:g.23423955_23423957del
GRCh37.p13 chr 14	NC_000014.8:g.23423956_23423957del
GRCh37.p13 chr 14	NC_000014.8:g.23423957del
GRCh37.p13 chr 14	NC_000014.8:g.23423957dup
GRCh37.p13 chr 14	NC_000014.8:g.23423956_23423957dup
GRCh37.p13 chr 14	NC_000014.8:g.23423955_23423957dup
GRCh37.p13 chr 14	NC_000014.8:g.23423953_23423957dup

Gene: HAUS4, HAUS augmin like complex subunit 4 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
HAUS4 transcript variant 1	NM_001166269.2:c.55+360_5… NM_001166269.2:c.55+360_55+369del	N/A	Intron Variant
HAUS4 transcript variant 3	NM_001166270.2:c.55+360_5… NM_001166270.2:c.55+360_55+369del	N/A	Intron Variant
HAUS4 transcript variant 2	NM_017815.3:c.55+360_55+3… NM_017815.3:c.55+360_55+369del	N/A	Intron Variant

Gene: PRMT5-DT, PRMT5 divergent transcript (plus strand) : 500B Downstream Variant

Molecule type	Change	Amino acid[Codon]	SO Term
PRMT5-DT transcript	NR_110002.1:n.	N/A	Downstream 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)₁₈=	del(T)₁₀	del(T)₈	del(T)₅	del(T)₄	delTTT	delTT	delT	dupT	dupTT	dupTTT	dup(T)₅
GRCh38.p14 chr 14	NC_000014.9:g.22954731_22954748=	NC_000014.9:g.22954739_22954748del	NC_000014.9:g.22954741_22954748del	NC_000014.9:g.22954744_22954748del	NC_000014.9:g.22954745_22954748del	NC_000014.9:g.22954746_22954748del	NC_000014.9:g.22954747_22954748del	NC_000014.9:g.22954748del	NC_000014.9:g.22954748dup	NC_000014.9:g.22954747_22954748dup	NC_000014.9:g.22954746_22954748dup	NC_000014.9:g.22954744_22954748dup
GRCh37.p13 chr 14	NC_000014.8:g.23423940_23423957=	NC_000014.8:g.23423948_23423957del	NC_000014.8:g.23423950_23423957del	NC_000014.8:g.23423953_23423957del	NC_000014.8:g.23423954_23423957del	NC_000014.8:g.23423955_23423957del	NC_000014.8:g.23423956_23423957del	NC_000014.8:g.23423957del	NC_000014.8:g.23423957dup	NC_000014.8:g.23423956_23423957dup	NC_000014.8:g.23423955_23423957dup	NC_000014.8:g.23423953_23423957dup
HAUS4 transcript variant 1	NM_001166269.1:c.55+369=	NM_001166269.1:c.55+360_55+369del	NM_001166269.1:c.55+362_55+369del	NM_001166269.1:c.55+365_55+369del	NM_001166269.1:c.55+366_55+369del	NM_001166269.1:c.55+367_55+369del	NM_001166269.1:c.55+368_55+369del	NM_001166269.1:c.55+369del	NM_001166269.1:c.55+369dup	NM_001166269.1:c.55+368_55+369dup	NM_001166269.1:c.55+367_55+369dup	NM_001166269.1:c.55+365_55+369dup
HAUS4 transcript variant 1	NM_001166269.2:c.55+369=	NM_001166269.2:c.55+360_55+369del	NM_001166269.2:c.55+362_55+369del	NM_001166269.2:c.55+365_55+369del	NM_001166269.2:c.55+366_55+369del	NM_001166269.2:c.55+367_55+369del	NM_001166269.2:c.55+368_55+369del	NM_001166269.2:c.55+369del	NM_001166269.2:c.55+369dup	NM_001166269.2:c.55+368_55+369dup	NM_001166269.2:c.55+367_55+369dup	NM_001166269.2:c.55+365_55+369dup
HAUS4 transcript variant 3	NM_001166270.1:c.55+369=	NM_001166270.1:c.55+360_55+369del	NM_001166270.1:c.55+362_55+369del	NM_001166270.1:c.55+365_55+369del	NM_001166270.1:c.55+366_55+369del	NM_001166270.1:c.55+367_55+369del	NM_001166270.1:c.55+368_55+369del	NM_001166270.1:c.55+369del	NM_001166270.1:c.55+369dup	NM_001166270.1:c.55+368_55+369dup	NM_001166270.1:c.55+367_55+369dup	NM_001166270.1:c.55+365_55+369dup
HAUS4 transcript variant 3	NM_001166270.2:c.55+369=	NM_001166270.2:c.55+360_55+369del	NM_001166270.2:c.55+362_55+369del	NM_001166270.2:c.55+365_55+369del	NM_001166270.2:c.55+366_55+369del	NM_001166270.2:c.55+367_55+369del	NM_001166270.2:c.55+368_55+369del	NM_001166270.2:c.55+369del	NM_001166270.2:c.55+369dup	NM_001166270.2:c.55+368_55+369dup	NM_001166270.2:c.55+367_55+369dup	NM_001166270.2:c.55+365_55+369dup
HAUS4 transcript variant 2	NM_017815.2:c.55+369=	NM_017815.2:c.55+360_55+369del	NM_017815.2:c.55+362_55+369del	NM_017815.2:c.55+365_55+369del	NM_017815.2:c.55+366_55+369del	NM_017815.2:c.55+367_55+369del	NM_017815.2:c.55+368_55+369del	NM_017815.2:c.55+369del	NM_017815.2:c.55+369dup	NM_017815.2:c.55+368_55+369dup	NM_017815.2:c.55+367_55+369dup	NM_017815.2:c.55+365_55+369dup
HAUS4 transcript variant 2	NM_017815.3:c.55+369=	NM_017815.3:c.55+360_55+369del	NM_017815.3:c.55+362_55+369del	NM_017815.3:c.55+365_55+369del	NM_017815.3:c.55+366_55+369del	NM_017815.3:c.55+367_55+369del	NM_017815.3:c.55+368_55+369del	NM_017815.3:c.55+369del	NM_017815.3:c.55+369dup	NM_017815.3:c.55+368_55+369dup	NM_017815.3:c.55+367_55+369dup	NM_017815.3:c.55+365_55+369dup
HAUS4 transcript variant X1	XM_005267772.1:c.55+369=	XM_005267772.1:c.55+360_55+369del	XM_005267772.1:c.55+362_55+369del	XM_005267772.1:c.55+365_55+369del	XM_005267772.1:c.55+366_55+369del	XM_005267772.1:c.55+367_55+369del	XM_005267772.1:c.55+368_55+369del	XM_005267772.1:c.55+369del	XM_005267772.1:c.55+369dup	XM_005267772.1:c.55+368_55+369dup	XM_005267772.1:c.55+367_55+369dup	XM_005267772.1:c.55+365_55+369dup
HAUS4 transcript variant X2	XM_005267773.1:c.55+369=	XM_005267773.1:c.55+360_55+369del	XM_005267773.1:c.55+362_55+369del	XM_005267773.1:c.55+365_55+369del	XM_005267773.1:c.55+366_55+369del	XM_005267773.1:c.55+367_55+369del	XM_005267773.1:c.55+368_55+369del	XM_005267773.1:c.55+369del	XM_005267773.1:c.55+369dup	XM_005267773.1:c.55+368_55+369dup	XM_005267773.1:c.55+367_55+369dup	XM_005267773.1:c.55+365_55+369dup
HAUS4 transcript variant X3	XM_005267774.1:c.55+369=	XM_005267774.1:c.55+360_55+369del	XM_005267774.1:c.55+362_55+369del	XM_005267774.1:c.55+365_55+369del	XM_005267774.1:c.55+366_55+369del	XM_005267774.1:c.55+367_55+369del	XM_005267774.1:c.55+368_55+369del	XM_005267774.1:c.55+369del	XM_005267774.1:c.55+369dup	XM_005267774.1:c.55+368_55+369dup	XM_005267774.1:c.55+367_55+369dup	XM_005267774.1:c.55+365_55+369dup
HAUS4 transcript variant X4	XM_005267775.1:c.-175+369=	XM_005267775.1:c.-175+360_-175+369del	XM_005267775.1:c.-175+362_-175+369del	XM_005267775.1:c.-175+365_-175+369del	XM_005267775.1:c.-175+366_-175+369del	XM_005267775.1:c.-175+367_-175+369del	XM_005267775.1:c.-175+368_-175+369del	XM_005267775.1:c.-175+369del	XM_005267775.1:c.-175+369dup	XM_005267775.1:c.-175+368_-175+369dup	XM_005267775.1:c.-175+367_-175+369dup	XM_005267775.1:c.-175+365_-175+369dup
HAUS4 transcript variant X5	XM_005267776.1:c.55+369=	XM_005267776.1:c.55+360_55+369del	XM_005267776.1:c.55+362_55+369del	XM_005267776.1:c.55+365_55+369del	XM_005267776.1:c.55+366_55+369del	XM_005267776.1:c.55+367_55+369del	XM_005267776.1:c.55+368_55+369del	XM_005267776.1:c.55+369del	XM_005267776.1:c.55+369dup	XM_005267776.1:c.55+368_55+369dup	XM_005267776.1:c.55+367_55+369dup	XM_005267776.1:c.55+365_55+369dup

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#.

30 SubSNP, 19 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	BCMHGSC_JDW	ss103555131	Mar 15, 2016 (147)
2	1000GENOMES	ss1373812246	Aug 21, 2014 (142)
3	SWEGEN	ss3011862670	Nov 08, 2017 (151)
4	PACBIO	ss3787607214	Jul 13, 2019 (153)
5	KHV_HUMAN_GENOMES	ss3817404062	Jul 13, 2019 (153)
6	EVA	ss3833810932	Apr 27, 2020 (154)
7	GNOMAD	ss4274444623	Apr 26, 2021 (155)
8	GNOMAD	ss4274444624	Apr 26, 2021 (155)
9	GNOMAD	ss4274444625	Apr 26, 2021 (155)
10	GNOMAD	ss4274444626	Apr 26, 2021 (155)
11	GNOMAD	ss4274444627	Apr 26, 2021 (155)
12	GNOMAD	ss4274444628	Apr 26, 2021 (155)
13	GNOMAD	ss4274444629	Apr 26, 2021 (155)
14	GNOMAD	ss4274444630	Apr 26, 2021 (155)
15	GNOMAD	ss4274444631	Apr 26, 2021 (155)
16	GNOMAD	ss4274444632	Apr 26, 2021 (155)
17	TOPMED	ss4963448501	Apr 26, 2021 (155)
18	TOMMO_GENOMICS	ss5212298991	Apr 26, 2021 (155)
19	TOMMO_GENOMICS	ss5212298992	Apr 26, 2021 (155)
20	TOMMO_GENOMICS	ss5212298993	Apr 26, 2021 (155)
21	1000G_HIGH_COVERAGE	ss5295494128	Oct 16, 2022 (156)
22	1000G_HIGH_COVERAGE	ss5295494129	Oct 16, 2022 (156)
23	1000G_HIGH_COVERAGE	ss5295494130	Oct 16, 2022 (156)
24	HUGCELL_USP	ss5489625762	Oct 16, 2022 (156)
25	HUGCELL_USP	ss5489625763	Oct 16, 2022 (156)
26	HUGCELL_USP	ss5489625764	Oct 16, 2022 (156)
27	TOMMO_GENOMICS	ss5764833654	Oct 16, 2022 (156)
28	TOMMO_GENOMICS	ss5764833655	Oct 16, 2022 (156)
29	TOMMO_GENOMICS	ss5764833656	Oct 16, 2022 (156)
30	EVA	ss5850946676	Oct 16, 2022 (156)
31	1000Genomes	NC_000014.8 - 23423940	Oct 12, 2018 (152)
32	gnomAD - Genomes Submission ignored due to conflicting rows: Row 445151614 (NC_000014.9:22954730::T 1428/124754) Row 445151615 (NC_000014.9:22954730::TT 16/124742) Row 445151616 (NC_000014.9:22954730::TTT 32/124750)...	-	Apr 26, 2021 (155)
33	gnomAD - Genomes Submission ignored due to conflicting rows: Row 445151614 (NC_000014.9:22954730::T 1428/124754) Row 445151615 (NC_000014.9:22954730::TT 16/124742) Row 445151616 (NC_000014.9:22954730::TTT 32/124750)...	-	Apr 26, 2021 (155)
34	gnomAD - Genomes Submission ignored due to conflicting rows: Row 445151614 (NC_000014.9:22954730::T 1428/124754) Row 445151615 (NC_000014.9:22954730::TT 16/124742) Row 445151616 (NC_000014.9:22954730::TTT 32/124750)...	-	Apr 26, 2021 (155)
35	gnomAD - Genomes Submission ignored due to conflicting rows: Row 445151614 (NC_000014.9:22954730::T 1428/124754) Row 445151615 (NC_000014.9:22954730::TT 16/124742) Row 445151616 (NC_000014.9:22954730::TTT 32/124750)...	-	Apr 26, 2021 (155)
36	gnomAD - Genomes Submission ignored due to conflicting rows: Row 445151614 (NC_000014.9:22954730::T 1428/124754) Row 445151615 (NC_000014.9:22954730::TT 16/124742) Row 445151616 (NC_000014.9:22954730::TTT 32/124750)...	-	Apr 26, 2021 (155)
37	gnomAD - Genomes Submission ignored due to conflicting rows: Row 445151614 (NC_000014.9:22954730::T 1428/124754) Row 445151615 (NC_000014.9:22954730::TT 16/124742) Row 445151616 (NC_000014.9:22954730::TTT 32/124750)...	-	Apr 26, 2021 (155)
38	gnomAD - Genomes Submission ignored due to conflicting rows: Row 445151614 (NC_000014.9:22954730::T 1428/124754) Row 445151615 (NC_000014.9:22954730::TT 16/124742) Row 445151616 (NC_000014.9:22954730::TTT 32/124750)...	-	Apr 26, 2021 (155)
39	gnomAD - Genomes Submission ignored due to conflicting rows: Row 445151614 (NC_000014.9:22954730::T 1428/124754) Row 445151615 (NC_000014.9:22954730::TT 16/124742) Row 445151616 (NC_000014.9:22954730::TTT 32/124750)...	-	Apr 26, 2021 (155)
40	gnomAD - Genomes Submission ignored due to conflicting rows: Row 445151614 (NC_000014.9:22954730::T 1428/124754) Row 445151615 (NC_000014.9:22954730::TT 16/124742) Row 445151616 (NC_000014.9:22954730::TTT 32/124750)...	-	Apr 26, 2021 (155)
41	gnomAD - Genomes Submission ignored due to conflicting rows: Row 445151614 (NC_000014.9:22954730::T 1428/124754) Row 445151615 (NC_000014.9:22954730::TT 16/124742) Row 445151616 (NC_000014.9:22954730::TTT 32/124750)...	-	Apr 26, 2021 (155)
42	8.3KJPN Submission ignored due to conflicting rows: Row 70268298 (NC_000014.8:23423939:T: 72/16760) Row 70268299 (NC_000014.8:23423939::T 22/16760) Row 70268300 (NC_000014.8:23423939::TT 2/16760)	-	Apr 26, 2021 (155)
43	8.3KJPN Submission ignored due to conflicting rows: Row 70268298 (NC_000014.8:23423939:T: 72/16760) Row 70268299 (NC_000014.8:23423939::T 22/16760) Row 70268300 (NC_000014.8:23423939::TT 2/16760)	-	Apr 26, 2021 (155)
44	8.3KJPN Submission ignored due to conflicting rows: Row 70268298 (NC_000014.8:23423939:T: 72/16760) Row 70268299 (NC_000014.8:23423939::T 22/16760) Row 70268300 (NC_000014.8:23423939::TT 2/16760)	-	Apr 26, 2021 (155)
45	14KJPN Submission ignored due to conflicting rows: Row 98670758 (NC_000014.9:22954730:T: 87/28258) Row 98670759 (NC_000014.9:22954730::T 41/28258) Row 98670760 (NC_000014.9:22954730::TT 2/28258)	-	Oct 16, 2022 (156)
46	14KJPN Submission ignored due to conflicting rows: Row 98670758 (NC_000014.9:22954730:T: 87/28258) Row 98670759 (NC_000014.9:22954730::T 41/28258) Row 98670760 (NC_000014.9:22954730::TT 2/28258)	-	Oct 16, 2022 (156)
47	14KJPN Submission ignored due to conflicting rows: Row 98670758 (NC_000014.9:22954730:T: 87/28258) Row 98670759 (NC_000014.9:22954730::T 41/28258) Row 98670760 (NC_000014.9:22954730::TT 2/28258)	-	Oct 16, 2022 (156)
48	TopMed	NC_000014.9 - 22954731	Apr 26, 2021 (155)
49	ALFA	NC_000014.9 - 22954731	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
178994160, ss4274444632, ss4963448501	NC_000014.9:22954730:TTTTTTTTTT:	NC_000014.9:22954730:TTTTTTTTTTTTT… NC_000014.9:22954730:TTTTTTTTTTTTTTTTTT:TTTTTTTT	(self)
6361036885	NC_000014.9:22954730:TTTTTTTTTTTTT… NC_000014.9:22954730:TTTTTTTTTTTTTTTTTT:TTTTTTTT	NC_000014.9:22954730:TTTTTTTTTTTTT… NC_000014.9:22954730:TTTTTTTTTTTTTTTTTT:TTTTTTTT	(self)
6361036885	NC_000014.9:22954730:TTTTTTTTTTTTT… NC_000014.9:22954730:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT	NC_000014.9:22954730:TTTTTTTTTTTTT… NC_000014.9:22954730:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT	(self)
ss4274444631	NC_000014.9:22954730:TTTTT:	NC_000014.9:22954730:TTTTTTTTTTTTT… NC_000014.9:22954730:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss4274444630	NC_000014.9:22954730:TTTT:	NC_000014.9:22954730:TTTTTTTTTTTTT… NC_000014.9:22954730:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss4274444629	NC_000014.9:22954730:TTT:	NC_000014.9:22954730:TTTTTTTTTTTTT… NC_000014.9:22954730:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
6361036885	NC_000014.9:22954730:TTTTTTTTTTTTT… NC_000014.9:22954730:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	NC_000014.9:22954730:TTTTTTTTTTTTT… NC_000014.9:22954730:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss4274444628, ss5489625764	NC_000014.9:22954730:TT:	NC_000014.9:22954730:TTTTTTTTTTTTT… NC_000014.9:22954730:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
6361036885	NC_000014.9:22954730:TTTTTTTTTTTTT… NC_000014.9:22954730:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	NC_000014.9:22954730:TTTTTTTTTTTTT… NC_000014.9:22954730:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
63125279, ss1373812246, ss3011862670, ss3787607214, ss3833810932, ss5212298991	NC_000014.8:23423939:T:	NC_000014.9:22954730:TTTTTTTTTTTTT… NC_000014.9:22954730:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss3817404062, ss4274444627, ss5295494128, ss5489625762, ss5764833654, ss5850946676	NC_000014.9:22954730:T:	NC_000014.9:22954730:TTTTTTTTTTTTT… NC_000014.9:22954730:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
6361036885	NC_000014.9:22954730:TTTTTTTTTTTTT… NC_000014.9:22954730:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	NC_000014.9:22954730:TTTTTTTTTTTTT… NC_000014.9:22954730:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss103555131	NT_026437.12:4423955:T:	NC_000014.9:22954730:TTTTTTTTTTTTT… NC_000014.9:22954730:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss5212298992	NC_000014.8:23423939::T	NC_000014.9:22954730:TTTTTTTTTTTTT… NC_000014.9:22954730:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss4274444623, ss5295494129, ss5489625763, ss5764833655	NC_000014.9:22954730::T	NC_000014.9:22954730:TTTTTTTTTTTTT… NC_000014.9:22954730:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
6361036885	NC_000014.9:22954730:TTTTTTTTTTTTT… NC_000014.9:22954730:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	NC_000014.9:22954730:TTTTTTTTTTTTT… NC_000014.9:22954730:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss5212298993	NC_000014.8:23423939::TT	NC_000014.9:22954730:TTTTTTTTTTTTT… NC_000014.9:22954730:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss4274444624, ss5764833656	NC_000014.9:22954730::TT	NC_000014.9:22954730:TTTTTTTTTTTTT… NC_000014.9:22954730:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
6361036885	NC_000014.9:22954730:TTTTTTTTTTTTT… NC_000014.9:22954730:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	NC_000014.9:22954730:TTTTTTTTTTTTT… NC_000014.9:22954730:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss4274444625, ss5295494130	NC_000014.9:22954730::TTT	NC_000014.9:22954730:TTTTTTTTTTTTT… NC_000014.9:22954730:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
6361036885	NC_000014.9:22954730:TTTTTTTTTTTTT… NC_000014.9:22954730:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	NC_000014.9:22954730:TTTTTTTTTTTTT… NC_000014.9:22954730:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss103555131	NT_026437.12:4423955:T:TTTT	NC_000014.9:22954730:TTTTTTTTTTTTT… NC_000014.9:22954730:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss4274444626	NC_000014.9:22954730::TTTTT	NC_000014.9:22954730:TTTTTTTTTTTTT… NC_000014.9:22954730:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(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 rs551775168

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

rs551775168