Name: rs8178720
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.

rs8178720

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr8:42194795-42194802 (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: delCC / delC / dupC / dupCCC / dup…
delCC / delC / dupC / dupCCC / dup(C)₄ / dup(C)₅ / dup(C)₆ / ins(C)₁₀ / ins(C)₁₁ / ins(C)₁₂ / ins(C)₁₃ / ins(C)₁₅ / ins(C)₁₆ / ins(C)₂₀
Variation Type: Indel Insertion and Deletion
Frequency: delC=0.4220 (2891/6850, ALFA)
(C)₈=0.3508 (1566/4464, Estonian)
(C)₈=0.3661 (1411/3854, ALSPAC) (+ 4 more)
(C)₈=0.3673 (1362/3708, TWINSUK)
(C)₈=0.3034 (554/1826, Korea1K)
(C)₈=0.343 (206/600, NorthernSweden)
(C)₈=0.40 (16/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: PLAT : 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: 20230706150541

Population	Group	Sample Size	Ref Allele	Alt Allele
Total	Global	6850	CCCCCCCC=0.5780	CCCCCCC=0.4220, CCCCCCCCC=0.0000
European	Sub	5610	CCCCCCCC=0.4857	CCCCCCC=0.5143, CCCCCCCCC=0.0000
African	Sub	1054	CCCCCCCC=1.0000	CCCCCCC=0.0000, CCCCCCCCC=0.0000
African Others	Sub	52	CCCCCCCC=1.00	CCCCCCC=0.00, CCCCCCCCC=0.00
African American	Sub	1002	CCCCCCCC=1.0000	CCCCCCC=0.0000, CCCCCCCCC=0.0000
Asian	Sub	14	CCCCCCCC=1.00	CCCCCCC=0.00, CCCCCCCCC=0.00
East Asian	Sub	14	CCCCCCCC=1.00	CCCCCCC=0.00, CCCCCCCCC=0.00
Other Asian	Sub	0	CCCCCCCC=0	CCCCCCC=0, CCCCCCCCC=0
Latin American 1	Sub	22	CCCCCCCC=1.00	CCCCCCC=0.00, CCCCCCCCC=0.00
Latin American 2	Sub	48	CCCCCCCC=1.00	CCCCCCC=0.00, CCCCCCCCC=0.00
South Asian	Sub	16	CCCCCCCC=1.00	CCCCCCC=0.00, CCCCCCCCC=0.00
Other	Sub	86	CCCCCCCC=0.93	CCCCCCC=0.07, CCCCCCCCC=0.00

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

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	6850	(C)₈=0.5780	delC=0.4220, dupC=0.0000
Allele Frequency Aggregator	European	Sub	5610	(C)₈=0.4857	delC=0.5143, dupC=0.0000
Allele Frequency Aggregator	African	Sub	1054	(C)₈=1.0000	delC=0.0000, dupC=0.0000
Allele Frequency Aggregator	Other	Sub	86	(C)₈=0.93	delC=0.07, dupC=0.00
Allele Frequency Aggregator	Latin American 2	Sub	48	(C)₈=1.00	delC=0.00, dupC=0.00
Allele Frequency Aggregator	Latin American 1	Sub	22	(C)₈=1.00	delC=0.00, dupC=0.00
Allele Frequency Aggregator	South Asian	Sub	16	(C)₈=1.00	delC=0.00, dupC=0.00
Allele Frequency Aggregator	Asian	Sub	14	(C)₈=1.00	delC=0.00, dupC=0.00
Genetic variation in the Estonian population	Estonian	Study-wide	4464	(C)₈=0.3508	delC=0.6492
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	(C)₈=0.3661	delC=0.6339
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	(C)₈=0.3673	delC=0.6327
Korean Genome Project	KOREAN	Study-wide	1826	(C)₈=0.3034	delC=0.6966
Northern Sweden	ACPOP	Study-wide	600	(C)₈=0.343	delC=0.657
The Danish reference pan genome	Danish	Study-wide	40	(C)₈=0.40	delC=0.60

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 8	NC_000008.11:g.42194801_42194802del
GRCh38.p14 chr 8	NC_000008.11:g.42194802del
GRCh38.p14 chr 8	NC_000008.11:g.42194802dup
GRCh38.p14 chr 8	NC_000008.11:g.42194800_42194802dup
GRCh38.p14 chr 8	NC_000008.11:g.42194799_42194802dup
GRCh38.p14 chr 8	NC_000008.11:g.42194798_42194802dup
GRCh38.p14 chr 8	NC_000008.11:g.42194797_42194802dup
GRCh38.p14 chr 8	NC_000008.11:g.42194802_42194803insCCCCCCCCCC
GRCh38.p14 chr 8	NC_000008.11:g.42194802_42194803insCCCCCCCCCCC
GRCh38.p14 chr 8	NC_000008.11:g.42194802_42194803insCCCCCCCCCCCC
GRCh38.p14 chr 8	NC_000008.11:g.42194802_42194803insCCCCCCCCCCCCC
GRCh38.p14 chr 8	NC_000008.11:g.42194802_42194803insCCCCCCCCCCCCCCC
GRCh38.p14 chr 8	NC_000008.11:g.42194802_42194803insCCCCCCCCCCCCCCCC
GRCh38.p14 chr 8	NC_000008.11:g.42194802_42194803insCCCCCCCCCCCCCCCCCCCC
GRCh37.p13 chr 8	NC_000008.10:g.42052319_42052320del
GRCh37.p13 chr 8	NC_000008.10:g.42052320del
GRCh37.p13 chr 8	NC_000008.10:g.42052320dup
GRCh37.p13 chr 8	NC_000008.10:g.42052318_42052320dup
GRCh37.p13 chr 8	NC_000008.10:g.42052317_42052320dup
GRCh37.p13 chr 8	NC_000008.10:g.42052316_42052320dup
GRCh37.p13 chr 8	NC_000008.10:g.42052315_42052320dup
GRCh37.p13 chr 8	NC_000008.10:g.42052320_42052321insCCCCCCCCCC
GRCh37.p13 chr 8	NC_000008.10:g.42052320_42052321insCCCCCCCCCCC
GRCh37.p13 chr 8	NC_000008.10:g.42052320_42052321insCCCCCCCCCCCC
GRCh37.p13 chr 8	NC_000008.10:g.42052320_42052321insCCCCCCCCCCCCC
GRCh37.p13 chr 8	NC_000008.10:g.42052320_42052321insCCCCCCCCCCCCCCC
GRCh37.p13 chr 8	NC_000008.10:g.42052320_42052321insCCCCCCCCCCCCCCCC
GRCh37.p13 chr 8	NC_000008.10:g.42052320_42052321insCCCCCCCCCCCCCCCCCCCC
PLAT RefSeqGene (LRG_570)	NG_023264.1:g.17881_17882del
PLAT RefSeqGene (LRG_570)	NG_023264.1:g.17882del
PLAT RefSeqGene (LRG_570)	NG_023264.1:g.17882dup
PLAT RefSeqGene (LRG_570)	NG_023264.1:g.17880_17882dup
PLAT RefSeqGene (LRG_570)	NG_023264.1:g.17879_17882dup
PLAT RefSeqGene (LRG_570)	NG_023264.1:g.17878_17882dup
PLAT RefSeqGene (LRG_570)	NG_023264.1:g.17877_17882dup
PLAT RefSeqGene (LRG_570)	NG_023264.1:g.17882_17883insGGGGGGGGGG
PLAT RefSeqGene (LRG_570)	NG_023264.1:g.17882_17883insGGGGGGGGGGG
PLAT RefSeqGene (LRG_570)	NG_023264.1:g.17882_17883insGGGGGGGGGGGG
PLAT RefSeqGene (LRG_570)	NG_023264.1:g.17882_17883insGGGGGGGGGGGGG
PLAT RefSeqGene (LRG_570)	NG_023264.1:g.17882_17883insGGGGGGGGGGGGGGG
PLAT RefSeqGene (LRG_570)	NG_023264.1:g.17882_17883insGGGGGGGGGGGGGGGG
PLAT RefSeqGene (LRG_570)	NG_023264.1:g.17882_17883insGGGGGGGGGGGGGGGGGGGG

Gene: PLAT, plasminogen activator, tissue type (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
PLAT transcript variant 1	NM_000930.5:c.-26-1585_-2… NM_000930.5:c.-26-1585_-26-1584del	N/A	Intron Variant
PLAT transcript variant 4	NM_001319189.2:c.-26-1585… NM_001319189.2:c.-26-1585_-26-1584del	N/A	Intron Variant
PLAT transcript variant 3	NM_033011.4:c.-26-1585_-2… NM_033011.4:c.-26-1585_-26-1584del	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)₈=	delCC	delC	dupC	dupCCC	dup(C)₄	dup(C)₅	dup(C)₆	ins(C)₁₀	ins(C)₁₁	ins(C)₁₂	ins(C)₁₃	ins(C)₁₅	ins(C)₁₆	ins(C)₂₀
GRCh38.p14 chr 8	NC_000008.11:g.42194795_42194802=	NC_000008.11:g.42194801_42194802del	NC_000008.11:g.42194802del	NC_000008.11:g.42194802dup	NC_000008.11:g.42194800_42194802dup	NC_000008.11:g.42194799_42194802dup	NC_000008.11:g.42194798_42194802dup	NC_000008.11:g.42194797_42194802dup	NC_000008.11:g.42194802_42194803insCCCCCCCCCC	NC_000008.11:g.42194802_42194803insCCCCCCCCCCC	NC_000008.11:g.42194802_42194803insCCCCCCCCCCCC	NC_000008.11:g.42194802_42194803insCCCCCCCCCCCCC	NC_000008.11:g.42194802_42194803insCCCCCCCCCCCCCCC	NC_000008.11:g.42194802_42194803insCCCCCCCCCCCCCCCC	NC_000008.11:g.42194802_42194803insCCCCCCCCCCCCCCCCCCCC
GRCh37.p13 chr 8	NC_000008.10:g.42052313_42052320=	NC_000008.10:g.42052319_42052320del	NC_000008.10:g.42052320del	NC_000008.10:g.42052320dup	NC_000008.10:g.42052318_42052320dup	NC_000008.10:g.42052317_42052320dup	NC_000008.10:g.42052316_42052320dup	NC_000008.10:g.42052315_42052320dup	NC_000008.10:g.42052320_42052321insCCCCCCCCCC	NC_000008.10:g.42052320_42052321insCCCCCCCCCCC	NC_000008.10:g.42052320_42052321insCCCCCCCCCCCC	NC_000008.10:g.42052320_42052321insCCCCCCCCCCCCC	NC_000008.10:g.42052320_42052321insCCCCCCCCCCCCCCC	NC_000008.10:g.42052320_42052321insCCCCCCCCCCCCCCCC	NC_000008.10:g.42052320_42052321insCCCCCCCCCCCCCCCCCCCC
PLAT RefSeqGene (LRG_570)	NG_023264.1:g.17875_17882=	NG_023264.1:g.17881_17882del	NG_023264.1:g.17882del	NG_023264.1:g.17882dup	NG_023264.1:g.17880_17882dup	NG_023264.1:g.17879_17882dup	NG_023264.1:g.17878_17882dup	NG_023264.1:g.17877_17882dup	NG_023264.1:g.17882_17883insGGGGGGGGGG	NG_023264.1:g.17882_17883insGGGGGGGGGGG	NG_023264.1:g.17882_17883insGGGGGGGGGGGG	NG_023264.1:g.17882_17883insGGGGGGGGGGGGG	NG_023264.1:g.17882_17883insGGGGGGGGGGGGGGG	NG_023264.1:g.17882_17883insGGGGGGGGGGGGGGGG	NG_023264.1:g.17882_17883insGGGGGGGGGGGGGGGGGGGG
PLAT transcript variant 1	NM_000930.3:c.-26-1584=	NM_000930.3:c.-26-1585_-26-1584del	NM_000930.3:c.-26-1584del	NM_000930.3:c.-26-1584dup	NM_000930.3:c.-26-1586_-26-1584dup	NM_000930.3:c.-26-1587_-26-1584dup	NM_000930.3:c.-26-1588_-26-1584dup	NM_000930.3:c.-26-1589_-26-1584dup	NM_000930.3:c.-26-1584_-26-1583insGGGGGGGGGG	NM_000930.3:c.-26-1584_-26-1583insGGGGGGGGGGG	NM_000930.3:c.-26-1584_-26-1583insGGGGGGGGGGGG	NM_000930.3:c.-26-1584_-26-1583insGGGGGGGGGGGGG	NM_000930.3:c.-26-1584_-26-1583insGGGGGGGGGGGGGGG	NM_000930.3:c.-26-1584_-26-1583insGGGGGGGGGGGGGGGG	NM_000930.3:c.-26-1584_-26-1583insGGGGGGGGGGGGGGGGGGGG
PLAT transcript variant 1	NM_000930.5:c.-26-1584=	NM_000930.5:c.-26-1585_-26-1584del	NM_000930.5:c.-26-1584del	NM_000930.5:c.-26-1584dup	NM_000930.5:c.-26-1586_-26-1584dup	NM_000930.5:c.-26-1587_-26-1584dup	NM_000930.5:c.-26-1588_-26-1584dup	NM_000930.5:c.-26-1589_-26-1584dup	NM_000930.5:c.-26-1584_-26-1583insGGGGGGGGGG	NM_000930.5:c.-26-1584_-26-1583insGGGGGGGGGGG	NM_000930.5:c.-26-1584_-26-1583insGGGGGGGGGGGG	NM_000930.5:c.-26-1584_-26-1583insGGGGGGGGGGGGG	NM_000930.5:c.-26-1584_-26-1583insGGGGGGGGGGGGGGG	NM_000930.5:c.-26-1584_-26-1583insGGGGGGGGGGGGGGGG	NM_000930.5:c.-26-1584_-26-1583insGGGGGGGGGGGGGGGGGGGG
PLAT transcript variant 4	NM_001319189.2:c.-26-1584=	NM_001319189.2:c.-26-1585_-26-1584del	NM_001319189.2:c.-26-1584del	NM_001319189.2:c.-26-1584dup	NM_001319189.2:c.-26-1586_-26-1584dup	NM_001319189.2:c.-26-1587_-26-1584dup	NM_001319189.2:c.-26-1588_-26-1584dup	NM_001319189.2:c.-26-1589_-26-1584dup	NM_001319189.2:c.-26-1584_-26-1583insGGGGGGGGGG	NM_001319189.2:c.-26-1584_-26-1583insGGGGGGGGGGG	NM_001319189.2:c.-26-1584_-26-1583insGGGGGGGGGGGG	NM_001319189.2:c.-26-1584_-26-1583insGGGGGGGGGGGGG	NM_001319189.2:c.-26-1584_-26-1583insGGGGGGGGGGGGGGG	NM_001319189.2:c.-26-1584_-26-1583insGGGGGGGGGGGGGGGG	NM_001319189.2:c.-26-1584_-26-1583insGGGGGGGGGGGGGGGGGGGG
PLAT transcript variant 3	NM_033011.2:c.-26-1584=	NM_033011.2:c.-26-1585_-26-1584del	NM_033011.2:c.-26-1584del	NM_033011.2:c.-26-1584dup	NM_033011.2:c.-26-1586_-26-1584dup	NM_033011.2:c.-26-1587_-26-1584dup	NM_033011.2:c.-26-1588_-26-1584dup	NM_033011.2:c.-26-1589_-26-1584dup	NM_033011.2:c.-26-1584_-26-1583insGGGGGGGGGG	NM_033011.2:c.-26-1584_-26-1583insGGGGGGGGGGG	NM_033011.2:c.-26-1584_-26-1583insGGGGGGGGGGGG	NM_033011.2:c.-26-1584_-26-1583insGGGGGGGGGGGGG	NM_033011.2:c.-26-1584_-26-1583insGGGGGGGGGGGGGGG	NM_033011.2:c.-26-1584_-26-1583insGGGGGGGGGGGGGGGG	NM_033011.2:c.-26-1584_-26-1583insGGGGGGGGGGGGGGGGGGGG
PLAT transcript variant 3	NM_033011.4:c.-26-1584=	NM_033011.4:c.-26-1585_-26-1584del	NM_033011.4:c.-26-1584del	NM_033011.4:c.-26-1584dup	NM_033011.4:c.-26-1586_-26-1584dup	NM_033011.4:c.-26-1587_-26-1584dup	NM_033011.4:c.-26-1588_-26-1584dup	NM_033011.4:c.-26-1589_-26-1584dup	NM_033011.4:c.-26-1584_-26-1583insGGGGGGGGGG	NM_033011.4:c.-26-1584_-26-1583insGGGGGGGGGGG	NM_033011.4:c.-26-1584_-26-1583insGGGGGGGGGGGG	NM_033011.4:c.-26-1584_-26-1583insGGGGGGGGGGGGG	NM_033011.4:c.-26-1584_-26-1583insGGGGGGGGGGGGGGG	NM_033011.4:c.-26-1584_-26-1583insGGGGGGGGGGGGGGGG	NM_033011.4:c.-26-1584_-26-1583insGGGGGGGGGGGGGGGGGGGG
PLAT transcript variant X1	XM_005273530.1:c.-26-1584=	XM_005273530.1:c.-26-1585_-26-1584del	XM_005273530.1:c.-26-1584del	XM_005273530.1:c.-26-1584dup	XM_005273530.1:c.-26-1586_-26-1584dup	XM_005273530.1:c.-26-1587_-26-1584dup	XM_005273530.1:c.-26-1588_-26-1584dup	XM_005273530.1:c.-26-1589_-26-1584dup	XM_005273530.1:c.-26-1584_-26-1583insGGGGGGGGGG	XM_005273530.1:c.-26-1584_-26-1583insGGGGGGGGGGG	XM_005273530.1:c.-26-1584_-26-1583insGGGGGGGGGGGG	XM_005273530.1:c.-26-1584_-26-1583insGGGGGGGGGGGGG	XM_005273530.1:c.-26-1584_-26-1583insGGGGGGGGGGGGGGG	XM_005273530.1:c.-26-1584_-26-1583insGGGGGGGGGGGGGGGG	XM_005273530.1:c.-26-1584_-26-1583insGGGGGGGGGGGGGGGGGGGG
PLAT transcript variant X2	XM_005273531.1:c.-26-1584=	XM_005273531.1:c.-26-1585_-26-1584del	XM_005273531.1:c.-26-1584del	XM_005273531.1:c.-26-1584dup	XM_005273531.1:c.-26-1586_-26-1584dup	XM_005273531.1:c.-26-1587_-26-1584dup	XM_005273531.1:c.-26-1588_-26-1584dup	XM_005273531.1:c.-26-1589_-26-1584dup	XM_005273531.1:c.-26-1584_-26-1583insGGGGGGGGGG	XM_005273531.1:c.-26-1584_-26-1583insGGGGGGGGGGG	XM_005273531.1:c.-26-1584_-26-1583insGGGGGGGGGGGG	XM_005273531.1:c.-26-1584_-26-1583insGGGGGGGGGGGGG	XM_005273531.1:c.-26-1584_-26-1583insGGGGGGGGGGGGGGG	XM_005273531.1:c.-26-1584_-26-1583insGGGGGGGGGGGGGGGG	XM_005273531.1:c.-26-1584_-26-1583insGGGGGGGGGGGGGGGGGGGG

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#.

82 SubSNP, 25 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	PGA-UW-FHCRC	ss9806868	Aug 27, 2003 (117)
2	ABI	ss43311148	Dec 03, 2013 (138)
3	DEVINE_LAB	ss50241095	Mar 15, 2016 (147)
4	HGSV	ss80895882	Sep 08, 2015 (146)
5	HGSV	ss81644285	Sep 08, 2015 (146)
6	HGSV	ss81776574	Sep 08, 2015 (146)
7	HGSV	ss82122469	Sep 08, 2015 (146)
8	HUMANGENOME_JCVI	ss95490865	Dec 05, 2013 (138)
9	ILLUMINA	ss107695372	Feb 06, 2009 (130)
10	ILLUMINA	ss160953794	Aug 21, 2014 (142)
11	ILLUMINA	ss174733750	Jul 04, 2010 (132)
12	BUSHMAN	ss193974246	Jul 04, 2010 (132)
13	GMI	ss287829737	May 09, 2011 (134)
14	GMI	ss288904570	May 04, 2012 (137)
15	PJP	ss295379074	May 09, 2011 (134)
16	1000GENOMES	ss327045719	Aug 21, 2014 (142)
17	1000GENOMES	ss327107333	Aug 21, 2014 (142)
18	1000GENOMES	ss327429584	Aug 21, 2014 (142)
19	ILLUMINA	ss482790018	Sep 08, 2015 (146)
20	ILLUMINA	ss537560295	Sep 08, 2015 (146)
21	LUNTER	ss551840437	Apr 25, 2013 (138)
22	LUNTER	ss552057933	Apr 25, 2013 (138)
23	LUNTER	ss553338766	Apr 25, 2013 (138)
24	SSMP	ss663854857	Apr 01, 2015 (144)
25	BILGI_BIOE	ss666435956	Apr 25, 2013 (138)
26	EVA-GONL	ss985443538	Aug 21, 2014 (142)
27	DDI	ss1536583663	Apr 01, 2015 (144)
28	EVA_GENOME_DK	ss1577193903	Apr 01, 2015 (144)
29	EVA_UK10K_ALSPAC	ss1706031462	Apr 01, 2015 (144)
30	EVA_UK10K_TWINSUK	ss1706031542	Apr 01, 2015 (144)
31	HAMMER_LAB	ss1805506876	Sep 08, 2015 (146)
32	JJLAB	ss2030905394	Sep 14, 2016 (149)
33	SYSTEMSBIOZJU	ss2627017137	Nov 08, 2017 (151)
34	SWEGEN	ss3003062675	Nov 08, 2017 (151)
35	MCHAISSO	ss3064298433	Nov 08, 2017 (151)
36	MCHAISSO	ss3065184769	Nov 08, 2017 (151)
37	MCHAISSO	ss3066199669	Nov 08, 2017 (151)
38	ILLUMINA	ss3630049124	Oct 12, 2018 (152)
39	ILLUMINA	ss3636907044	Oct 12, 2018 (152)
40	ILLUMINA	ss3638757238	Oct 12, 2018 (152)
41	ILLUMINA	ss3643688337	Oct 12, 2018 (152)
42	BEROUKHIMLAB	ss3644260554	Oct 12, 2018 (152)
43	BIOINF_KMB_FNS_UNIBA	ss3646092108	Oct 12, 2018 (152)
44	URBANLAB	ss3648902760	Oct 12, 2018 (152)
45	EGCUT_WGS	ss3670756983	Jul 13, 2019 (153)
46	EVA_DECODE	ss3721884298	Jul 13, 2019 (153)
47	EVA_DECODE	ss3721884299	Jul 13, 2019 (153)
48	ACPOP	ss3735608169	Jul 13, 2019 (153)
49	PACBIO	ss3786129720	Jul 13, 2019 (153)
50	PACBIO	ss3791389087	Jul 13, 2019 (153)
51	PACBIO	ss3796270374	Jul 13, 2019 (153)
52	KHV_HUMAN_GENOMES	ss3811078905	Jul 13, 2019 (153)
53	EVA	ss3831136211	Apr 26, 2020 (154)
54	EVA	ss3839078438	Apr 26, 2020 (154)
55	EVA	ss3844537270	Apr 26, 2020 (154)
56	KOGIC	ss3963722910	Apr 26, 2020 (154)
57	GNOMAD	ss4183153277	Apr 26, 2021 (155)
58	GNOMAD	ss4183153278	Apr 26, 2021 (155)
59	GNOMAD	ss4183153279	Apr 26, 2021 (155)
60	GNOMAD	ss4183153280	Apr 26, 2021 (155)
61	GNOMAD	ss4183153281	Apr 26, 2021 (155)
62	GNOMAD	ss4183153282	Apr 26, 2021 (155)
63	GNOMAD	ss4183153283	Apr 26, 2021 (155)
64	GNOMAD	ss4183153284	Apr 26, 2021 (155)
65	GNOMAD	ss4183153285	Apr 26, 2021 (155)
66	GNOMAD	ss4183153286	Apr 26, 2021 (155)
67	GNOMAD	ss4183153287	Apr 26, 2021 (155)
68	GNOMAD	ss4183153288	Apr 26, 2021 (155)
69	GNOMAD	ss4183153289	Apr 26, 2021 (155)
70	TOMMO_GENOMICS	ss5188386674	Apr 26, 2021 (155)
71	TOMMO_GENOMICS	ss5188386675	Apr 26, 2021 (155)
72	1000G_HIGH_COVERAGE	ss5276899913	Oct 16, 2022 (156)
73	HUGCELL_USP	ss5473500287	Oct 16, 2022 (156)
74	HUGCELL_USP	ss5473500288	Oct 16, 2022 (156)
75	SANFORD_IMAGENETICS	ss5645246180	Oct 16, 2022 (156)
76	TOMMO_GENOMICS	ss5730217502	Oct 16, 2022 (156)
77	TOMMO_GENOMICS	ss5730217503	Oct 16, 2022 (156)
78	TOMMO_GENOMICS	ss5730217504	Oct 16, 2022 (156)
79	EVA	ss5830442798	Oct 16, 2022 (156)
80	EVA	ss5856352221	Oct 16, 2022 (156)
81	EVA	ss5888686901	Oct 16, 2022 (156)
82	EVA	ss5974446564	Oct 16, 2022 (156)
83	The Avon Longitudinal Study of Parents and Children	NC_000008.10 - 42052313	Oct 12, 2018 (152)
84	Genetic variation in the Estonian population	NC_000008.10 - 42052313	Oct 12, 2018 (152)
85	The Danish reference pan genome	NC_000008.10 - 42052313	Apr 26, 2020 (154)
86	gnomAD - Genomes Submission ignored due to conflicting rows: Row 293933447 (NC_000008.11:42194794::C 60/112002) Row 293933448 (NC_000008.11:42194794::CCC 1/112004) Row 293933449 (NC_000008.11:42194794::CCCC 1/112004)...	-	Apr 26, 2021 (155)
87	gnomAD - Genomes Submission ignored due to conflicting rows: Row 293933447 (NC_000008.11:42194794::C 60/112002) Row 293933448 (NC_000008.11:42194794::CCC 1/112004) Row 293933449 (NC_000008.11:42194794::CCCC 1/112004)...	-	Apr 26, 2021 (155)
88	gnomAD - Genomes Submission ignored due to conflicting rows: Row 293933447 (NC_000008.11:42194794::C 60/112002) Row 293933448 (NC_000008.11:42194794::CCC 1/112004) Row 293933449 (NC_000008.11:42194794::CCCC 1/112004)...	-	Apr 26, 2021 (155)
89	gnomAD - Genomes Submission ignored due to conflicting rows: Row 293933447 (NC_000008.11:42194794::C 60/112002) Row 293933448 (NC_000008.11:42194794::CCC 1/112004) Row 293933449 (NC_000008.11:42194794::CCCC 1/112004)...	-	Apr 26, 2021 (155)
90	gnomAD - Genomes Submission ignored due to conflicting rows: Row 293933447 (NC_000008.11:42194794::C 60/112002) Row 293933448 (NC_000008.11:42194794::CCC 1/112004) Row 293933449 (NC_000008.11:42194794::CCCC 1/112004)...	-	Apr 26, 2021 (155)
91	gnomAD - Genomes Submission ignored due to conflicting rows: Row 293933447 (NC_000008.11:42194794::C 60/112002) Row 293933448 (NC_000008.11:42194794::CCC 1/112004) Row 293933449 (NC_000008.11:42194794::CCCC 1/112004)...	-	Apr 26, 2021 (155)
92	gnomAD - Genomes Submission ignored due to conflicting rows: Row 293933447 (NC_000008.11:42194794::C 60/112002) Row 293933448 (NC_000008.11:42194794::CCC 1/112004) Row 293933449 (NC_000008.11:42194794::CCCC 1/112004)...	-	Apr 26, 2021 (155)
93	gnomAD - Genomes Submission ignored due to conflicting rows: Row 293933447 (NC_000008.11:42194794::C 60/112002) Row 293933448 (NC_000008.11:42194794::CCC 1/112004) Row 293933449 (NC_000008.11:42194794::CCCC 1/112004)...	-	Apr 26, 2021 (155)
94	gnomAD - Genomes Submission ignored due to conflicting rows: Row 293933447 (NC_000008.11:42194794::C 60/112002) Row 293933448 (NC_000008.11:42194794::CCC 1/112004) Row 293933449 (NC_000008.11:42194794::CCCC 1/112004)...	-	Apr 26, 2021 (155)
95	gnomAD - Genomes Submission ignored due to conflicting rows: Row 293933447 (NC_000008.11:42194794::C 60/112002) Row 293933448 (NC_000008.11:42194794::CCC 1/112004) Row 293933449 (NC_000008.11:42194794::CCCC 1/112004)...	-	Apr 26, 2021 (155)
96	gnomAD - Genomes Submission ignored due to conflicting rows: Row 293933447 (NC_000008.11:42194794::C 60/112002) Row 293933448 (NC_000008.11:42194794::CCC 1/112004) Row 293933449 (NC_000008.11:42194794::CCCC 1/112004)...	-	Apr 26, 2021 (155)
97	gnomAD - Genomes Submission ignored due to conflicting rows: Row 293933447 (NC_000008.11:42194794::C 60/112002) Row 293933448 (NC_000008.11:42194794::CCC 1/112004) Row 293933449 (NC_000008.11:42194794::CCCC 1/112004)...	-	Apr 26, 2021 (155)
98	gnomAD - Genomes Submission ignored due to conflicting rows: Row 293933447 (NC_000008.11:42194794::C 60/112002) Row 293933448 (NC_000008.11:42194794::CCC 1/112004) Row 293933449 (NC_000008.11:42194794::CCCC 1/112004)...	-	Apr 26, 2021 (155)
99	Korean Genome Project	NC_000008.11 - 42194795	Apr 26, 2020 (154)
100	Northern Sweden	NC_000008.10 - 42052313	Jul 13, 2019 (153)
101	8.3KJPN Submission ignored due to conflicting rows: Row 46355981 (NC_000008.10:42052312:C: 11151/16706) Row 46355982 (NC_000008.10:42052312::C 9/16706)	-	Apr 26, 2021 (155)
102	8.3KJPN Submission ignored due to conflicting rows: Row 46355981 (NC_000008.10:42052312:C: 11151/16706) Row 46355982 (NC_000008.10:42052312::C 9/16706)	-	Apr 26, 2021 (155)
103	14KJPN Submission ignored due to conflicting rows: Row 64054606 (NC_000008.11:42194794:C: 18543/28214) Row 64054607 (NC_000008.11:42194794::C 14/28214) Row 64054608 (NC_000008.11:42194794:CC: 2/28214)	-	Oct 16, 2022 (156)
104	14KJPN Submission ignored due to conflicting rows: Row 64054606 (NC_000008.11:42194794:C: 18543/28214) Row 64054607 (NC_000008.11:42194794::C 14/28214) Row 64054608 (NC_000008.11:42194794:CC: 2/28214)	-	Oct 16, 2022 (156)
105	14KJPN Submission ignored due to conflicting rows: Row 64054606 (NC_000008.11:42194794:C: 18543/28214) Row 64054607 (NC_000008.11:42194794::C 14/28214) Row 64054608 (NC_000008.11:42194794:CC: 2/28214)	-	Oct 16, 2022 (156)
106	UK 10K study - Twins	NC_000008.10 - 42052313	Oct 12, 2018 (152)
107	ALFA	NC_000008.11 - 42194795	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).

Associated ID	History Updated (Build)
rs869255386	Jul 19, 2016 (147)
rs386616002	Aug 21, 2014 (142)
rs34244836	May 11, 2012 (137)
rs35740355	May 23, 2006 (127)
rs59280851	May 25, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss5730217504	NC_000008.11:42194794:CC:	NC_000008.11:42194794:CCCCCCCC:CCC… NC_000008.11:42194794:CCCCCCCC:CCCCCC
ss160953794, ss288904570, ss295379074, ss327045719, ss327107333, ss327429584, ss551840437, ss552057933, ss553338766, ss3643688337	NC_000008.9:42171469:C:	NC_000008.11:42194794:CCCCCCCC:CCC… NC_000008.11:42194794:CCCCCCCC:CCCCCCC	(self)
ss80895882, ss81644285, ss81776574, ss82122469	NC_000008.9:42171476:C:	NC_000008.11:42194794:CCCCCCCC:CCC… NC_000008.11:42194794:CCCCCCCC:CCCCCCC	(self)
23183806, 16495231, 1216478, 8893034, 23183806, ss482790018, ss537560295, ss663854857, ss666435956, ss985443538, ss1536583663, ss1577193903, ss1706031462, ss1706031542, ss1805506876, ss2030905394, ss2627017137, ss3003062675, ss3630049124, ss3636907044, ss3638757238, ss3644260554, ss3670756983, ss3735608169, ss3786129720, ss3791389087, ss3796270374, ss3831136211, ss3839078438, ss5188386674, ss5645246180, ss5830442798, ss5974446564	NC_000008.10:42052312:C:	NC_000008.11:42194794:CCCCCCCC:CCC… NC_000008.11:42194794:CCCCCCCC:CCCCCCC	(self)
20100911, ss3064298433, ss3065184769, ss3066199669, ss3646092108, ss3648902760, ss3721884299, ss3811078905, ss3844537270, ss3963722910, ss4183153289, ss5276899913, ss5473500287, ss5730217502, ss5856352221, ss5888686901	NC_000008.11:42194794:C:	NC_000008.11:42194794:CCCCCCCC:CCC… NC_000008.11:42194794:CCCCCCCC:CCCCCCC	(self)
11345018855	NC_000008.11:42194794:CCCCCCCC:CCC… NC_000008.11:42194794:CCCCCCCC:CCCCCCC	NC_000008.11:42194794:CCCCCCCC:CCC… NC_000008.11:42194794:CCCCCCCC:CCCCCCC	(self)
ss9806868, ss107695372, ss174733750, ss287829737	NT_167187.1:29910458:C:	NC_000008.11:42194794:CCCCCCCC:CCC… NC_000008.11:42194794:CCCCCCCC:CCCCCCC	(self)
ss43311148, ss50241095, ss95490865	NT_167187.1:29910465:C:	NC_000008.11:42194794:CCCCCCCC:CCC… NC_000008.11:42194794:CCCCCCCC:CCCCCCC	(self)
ss193974246	NT_167187.2:29910449:C:	NC_000008.11:42194794:CCCCCCCC:CCC… NC_000008.11:42194794:CCCCCCCC:CCCCCCC	(self)
ss5188386675	NC_000008.10:42052312::C	NC_000008.11:42194794:CCCCCCCC:CCC… NC_000008.11:42194794:CCCCCCCC:CCCCCCCCC	(self)
ss4183153277, ss5473500288, ss5730217503	NC_000008.11:42194794::C	NC_000008.11:42194794:CCCCCCCC:CCC… NC_000008.11:42194794:CCCCCCCC:CCCCCCCCC	(self)
11345018855	NC_000008.11:42194794:CCCCCCCC:CCC… NC_000008.11:42194794:CCCCCCCC:CCCCCCCCC	NC_000008.11:42194794:CCCCCCCC:CCC… NC_000008.11:42194794:CCCCCCCC:CCCCCCCCC	(self)
ss3721884298	NC_000008.11:42194795::C	NC_000008.11:42194794:CCCCCCCC:CCC… NC_000008.11:42194794:CCCCCCCC:CCCCCCCCC	(self)
ss4183153278	NC_000008.11:42194794::CCC	NC_000008.11:42194794:CCCCCCCC:CCC… NC_000008.11:42194794:CCCCCCCC:CCCCCCCCCCC	(self)
ss4183153279	NC_000008.11:42194794::CCCC	NC_000008.11:42194794:CCCCCCCC:CCC… NC_000008.11:42194794:CCCCCCCC:CCCCCCCCCCCC	(self)
ss4183153280	NC_000008.11:42194794::CCCCC	NC_000008.11:42194794:CCCCCCCC:CCC… NC_000008.11:42194794:CCCCCCCC:CCCCCCCCCCCCC	(self)
ss4183153281	NC_000008.11:42194794::CCCCCC	NC_000008.11:42194794:CCCCCCCC:CCC… NC_000008.11:42194794:CCCCCCCC:CCCCCCCCCCCCCC	(self)
ss4183153282	NC_000008.11:42194794::CCCCCCCCCC	NC_000008.11:42194794:CCCCCCCC:CCC… NC_000008.11:42194794:CCCCCCCC:CCCCCCCCCCCCCCCCCC	(self)
ss4183153283	NC_000008.11:42194794::CCCCCCCCCCC	NC_000008.11:42194794:CCCCCCCC:CCC… NC_000008.11:42194794:CCCCCCCC:CCCCCCCCCCCCCCCCCCC	(self)
ss4183153284	NC_000008.11:42194794::CCCCCCCCCCCC	NC_000008.11:42194794:CCCCCCCC:CCC… NC_000008.11:42194794:CCCCCCCC:CCCCCCCCCCCCCCCCCCCC	(self)
ss4183153285	NC_000008.11:42194794::CCCCCCCCCCC… NC_000008.11:42194794::CCCCCCCCCCCCC	NC_000008.11:42194794:CCCCCCCC:CCC… NC_000008.11:42194794:CCCCCCCC:CCCCCCCCCCCCCCCCCCCCC	(self)
ss4183153286	NC_000008.11:42194794::CCCCCCCCCCC… NC_000008.11:42194794::CCCCCCCCCCCCCCC	NC_000008.11:42194794:CCCCCCCC:CCC… NC_000008.11:42194794:CCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCC	(self)
ss4183153287	NC_000008.11:42194794::CCCCCCCCCCC… NC_000008.11:42194794::CCCCCCCCCCCCCCCC	NC_000008.11:42194794:CCCCCCCC:CCC… NC_000008.11:42194794:CCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCC	(self)
ss4183153288	NC_000008.11:42194794::CCCCCCCCCCC… NC_000008.11:42194794::CCCCCCCCCCCCCCCCCCCC	NC_000008.11:42194794:CCCCCCCC:CCC… NC_000008.11:42194794:CCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCC	(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 rs8178720

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

rs8178720