Name: rs34283278
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.

rs34283278

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr7:154546489-154546504 (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: delAAA / delAA / delA / dupA / dup…
delAAA / delAA / delA / dupA / dupAA / dupAAA
Variation Type: Indel Insertion and Deletion
Frequency: delA=0.2025 (1661/8202, ALFA)
delAA=0.1470 (512/3484, 1000G)
delA=0.438 (261/596, NorthernSweden) (+ 1 more)
(A)₁₆=0.42 (17/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: DPP6 : 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	8202	AAAAAAAAAAAAAAAA=0.7966	AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0002, AAAAAAAAAAAAAAA=0.2025, AAAAAAAAAAAAAAAAA=0.0006, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000	0.676435	0.081563	0.242002	32
European	Sub	6872	AAAAAAAAAAAAAAAA=0.7576	AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0003, AAAAAAAAAAAAAAA=0.2414, AAAAAAAAAAAAAAAAA=0.0007, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000	0.614286	0.097376	0.288338	32
African	Sub	696	AAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
African Others	Sub	20	AAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African American	Sub	676	AAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
Asian	Sub	56	AAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	42	AAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	14	AAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	54	AAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	318	AAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	38	AAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other	Sub	168	AAAAAAAAAAAAAAAA=0.988	AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.012, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000	0.97619	0.0	0.02381	0

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	8202	(A)₁₆=0.7966	delAAA=0.0000, delAA=0.0002, delA=0.2025, dupA=0.0006, dupAA=0.0000, dupAAA=0.0000
Allele Frequency Aggregator	European	Sub	6872	(A)₁₆=0.7576	delAAA=0.0000, delAA=0.0003, delA=0.2414, dupA=0.0007, dupAA=0.0000, dupAAA=0.0000
Allele Frequency Aggregator	African	Sub	696	(A)₁₆=1.000	delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000
Allele Frequency Aggregator	Latin American 2	Sub	318	(A)₁₆=1.000	delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000
Allele Frequency Aggregator	Other	Sub	168	(A)₁₆=0.988	delAAA=0.000, delAA=0.000, delA=0.012, dupA=0.000, dupAA=0.000, dupAAA=0.000
Allele Frequency Aggregator	Asian	Sub	56	(A)₁₆=1.00	delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator	Latin American 1	Sub	54	(A)₁₆=1.00	delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator	South Asian	Sub	38	(A)₁₆=1.00	delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
1000Genomes	Global	Study-wide	3484	(A)₁₆=0.8530	delAA=0.1470
1000Genomes	African	Sub	1012	(A)₁₆=0.6107	delAA=0.3893
1000Genomes	East Asian	Sub	820	(A)₁₆=0.912	delAA=0.088
1000Genomes	South Asian	Sub	622	(A)₁₆=0.979	delAA=0.021
1000Genomes	Europe	Sub	551	(A)₁₆=0.989	delAA=0.011
1000Genomes	American	Sub	479	(A)₁₆=0.944	delAA=0.056
Northern Sweden	ACPOP	Study-wide	596	(A)₁₆=0.562	delA=0.438
The Danish reference pan genome	Danish	Study-wide	40	(A)₁₆=0.42	delA=0.57

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 7	NC_000007.14:g.154546502_154546504del
GRCh38.p14 chr 7	NC_000007.14:g.154546503_154546504del
GRCh38.p14 chr 7	NC_000007.14:g.154546504del
GRCh38.p14 chr 7	NC_000007.14:g.154546504dup
GRCh38.p14 chr 7	NC_000007.14:g.154546503_154546504dup
GRCh38.p14 chr 7	NC_000007.14:g.154546502_154546504dup
GRCh37.p13 chr 7	NC_000007.13:g.154243587_154243589del
GRCh37.p13 chr 7	NC_000007.13:g.154243588_154243589del
GRCh37.p13 chr 7	NC_000007.13:g.154243589del
GRCh37.p13 chr 7	NC_000007.13:g.154243589dup
GRCh37.p13 chr 7	NC_000007.13:g.154243588_154243589dup
GRCh37.p13 chr 7	NC_000007.13:g.154243587_154243589dup
DPP6 RefSeqGene	NG_033878.2:g.803517_803519del
DPP6 RefSeqGene	NG_033878.2:g.803518_803519del
DPP6 RefSeqGene	NG_033878.2:g.803519del
DPP6 RefSeqGene	NG_033878.2:g.803519dup
DPP6 RefSeqGene	NG_033878.2:g.803518_803519dup
DPP6 RefSeqGene	NG_033878.2:g.803517_803519dup
GRCh38.p14 chr 7 fix patch HG2239_PATCH	NW_012132919.1:g.124151_124153del
GRCh38.p14 chr 7 fix patch HG2239_PATCH	NW_012132919.1:g.124152_124153del
GRCh38.p14 chr 7 fix patch HG2239_PATCH	NW_012132919.1:g.124153del
GRCh38.p14 chr 7 fix patch HG2239_PATCH	NW_012132919.1:g.124153dup
GRCh38.p14 chr 7 fix patch HG2239_PATCH	NW_012132919.1:g.124152_124153dup
GRCh38.p14 chr 7 fix patch HG2239_PATCH	NW_012132919.1:g.124151_124153dup

Gene: DPP6, dipeptidyl peptidase like 6 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
DPP6 transcript variant 3	NM_001039350.3:c.360+5876… NM_001039350.3:c.360+5876_360+5878del	N/A	Intron Variant
DPP6 transcript variant 4	NM_001290252.2:c.366+5876… NM_001290252.2:c.366+5876_366+5878del	N/A	Intron Variant
DPP6 transcript variant 5	NM_001290253.2:c.552+5876… NM_001290253.2:c.552+5876_552+5878del	N/A	Intron Variant
DPP6 transcript variant 6	NM_001364497.2:c.369+5876… NM_001364497.2:c.369+5876_369+5878del	N/A	Intron Variant
DPP6 transcript variant 7	NM_001364498.2:c.369+5876… NM_001364498.2:c.369+5876_369+5878del	N/A	Intron Variant
DPP6 transcript variant 8	NM_001364499.2:c.369+5876… NM_001364499.2:c.369+5876_369+5878del	N/A	Intron Variant
DPP6 transcript variant 9	NM_001364500.2:c.369+5876… NM_001364500.2:c.369+5876_369+5878del	N/A	Intron Variant
DPP6 transcript variant 10	NM_001364501.2:c.360+5876… NM_001364501.2:c.360+5876_360+5878del	N/A	Intron Variant
DPP6 transcript variant 11	NM_001364502.2:c.366+5876… NM_001364502.2:c.366+5876_366+5878del	N/A	Intron Variant
DPP6 transcript variant 2	NM_001936.5:c.366+5876_36… NM_001936.5:c.366+5876_366+5878del	N/A	Intron Variant
DPP6 transcript variant 1	NM_130797.4:c.552+5876_55… NM_130797.4:c.552+5876_552+5878del	N/A	Intron Variant
DPP6 transcript variant 12	NR_157195.2:n.	N/A	Intron Variant
DPP6 transcript variant 13	NR_157196.2:n.	N/A	Intron Variant
DPP6 transcript variant X2	XM_047419951.1:c.369+5876… XM_047419951.1:c.369+5876_369+5878del	N/A	Intron Variant
DPP6 transcript variant X1	XM_017011812.3:c.	N/A	Genic Upstream Transcript Variant

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

Not Reported in ClinVar

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

Placement	(A)₁₆=	delAAA	delAA	delA	dupA	dupAA	dupAAA
GRCh38.p14 chr 7	NC_000007.14:g.154546489_154546504=	NC_000007.14:g.154546502_154546504del	NC_000007.14:g.154546503_154546504del	NC_000007.14:g.154546504del	NC_000007.14:g.154546504dup	NC_000007.14:g.154546503_154546504dup	NC_000007.14:g.154546502_154546504dup
GRCh37.p13 chr 7	NC_000007.13:g.154243574_154243589=	NC_000007.13:g.154243587_154243589del	NC_000007.13:g.154243588_154243589del	NC_000007.13:g.154243589del	NC_000007.13:g.154243589dup	NC_000007.13:g.154243588_154243589dup	NC_000007.13:g.154243587_154243589dup
DPP6 RefSeqGene	NG_033878.2:g.803504_803519=	NG_033878.2:g.803517_803519del	NG_033878.2:g.803518_803519del	NG_033878.2:g.803519del	NG_033878.2:g.803519dup	NG_033878.2:g.803518_803519dup	NG_033878.2:g.803517_803519dup
GRCh38.p14 chr 7 fix patch HG2239_PATCH	NW_012132919.1:g.124138_124153=	NW_012132919.1:g.124151_124153del	NW_012132919.1:g.124152_124153del	NW_012132919.1:g.124153del	NW_012132919.1:g.124153dup	NW_012132919.1:g.124152_124153dup	NW_012132919.1:g.124151_124153dup
DPP6 transcript variant 3	NM_001039350.1:c.360+5863=	NM_001039350.1:c.360+5876_360+5878del	NM_001039350.1:c.360+5877_360+5878del	NM_001039350.1:c.360+5878del	NM_001039350.1:c.360+5878dup	NM_001039350.1:c.360+5877_360+5878dup	NM_001039350.1:c.360+5876_360+5878dup
DPP6 transcript variant 3	NM_001039350.3:c.360+5863=	NM_001039350.3:c.360+5876_360+5878del	NM_001039350.3:c.360+5877_360+5878del	NM_001039350.3:c.360+5878del	NM_001039350.3:c.360+5878dup	NM_001039350.3:c.360+5877_360+5878dup	NM_001039350.3:c.360+5876_360+5878dup
DPP6 transcript variant 4	NM_001290252.2:c.366+5863=	NM_001290252.2:c.366+5876_366+5878del	NM_001290252.2:c.366+5877_366+5878del	NM_001290252.2:c.366+5878del	NM_001290252.2:c.366+5878dup	NM_001290252.2:c.366+5877_366+5878dup	NM_001290252.2:c.366+5876_366+5878dup
DPP6 transcript variant 5	NM_001290253.2:c.552+5863=	NM_001290253.2:c.552+5876_552+5878del	NM_001290253.2:c.552+5877_552+5878del	NM_001290253.2:c.552+5878del	NM_001290253.2:c.552+5878dup	NM_001290253.2:c.552+5877_552+5878dup	NM_001290253.2:c.552+5876_552+5878dup
DPP6 transcript variant 6	NM_001364497.2:c.369+5863=	NM_001364497.2:c.369+5876_369+5878del	NM_001364497.2:c.369+5877_369+5878del	NM_001364497.2:c.369+5878del	NM_001364497.2:c.369+5878dup	NM_001364497.2:c.369+5877_369+5878dup	NM_001364497.2:c.369+5876_369+5878dup
DPP6 transcript variant 7	NM_001364498.2:c.369+5863=	NM_001364498.2:c.369+5876_369+5878del	NM_001364498.2:c.369+5877_369+5878del	NM_001364498.2:c.369+5878del	NM_001364498.2:c.369+5878dup	NM_001364498.2:c.369+5877_369+5878dup	NM_001364498.2:c.369+5876_369+5878dup
DPP6 transcript variant 8	NM_001364499.2:c.369+5863=	NM_001364499.2:c.369+5876_369+5878del	NM_001364499.2:c.369+5877_369+5878del	NM_001364499.2:c.369+5878del	NM_001364499.2:c.369+5878dup	NM_001364499.2:c.369+5877_369+5878dup	NM_001364499.2:c.369+5876_369+5878dup
DPP6 transcript variant 9	NM_001364500.2:c.369+5863=	NM_001364500.2:c.369+5876_369+5878del	NM_001364500.2:c.369+5877_369+5878del	NM_001364500.2:c.369+5878del	NM_001364500.2:c.369+5878dup	NM_001364500.2:c.369+5877_369+5878dup	NM_001364500.2:c.369+5876_369+5878dup
DPP6 transcript variant 10	NM_001364501.2:c.360+5863=	NM_001364501.2:c.360+5876_360+5878del	NM_001364501.2:c.360+5877_360+5878del	NM_001364501.2:c.360+5878del	NM_001364501.2:c.360+5878dup	NM_001364501.2:c.360+5877_360+5878dup	NM_001364501.2:c.360+5876_360+5878dup
DPP6 transcript variant 11	NM_001364502.2:c.366+5863=	NM_001364502.2:c.366+5876_366+5878del	NM_001364502.2:c.366+5877_366+5878del	NM_001364502.2:c.366+5878del	NM_001364502.2:c.366+5878dup	NM_001364502.2:c.366+5877_366+5878dup	NM_001364502.2:c.366+5876_366+5878dup
DPP6 transcript variant 2	NM_001936.3:c.366+5863=	NM_001936.3:c.366+5876_366+5878del	NM_001936.3:c.366+5877_366+5878del	NM_001936.3:c.366+5878del	NM_001936.3:c.366+5878dup	NM_001936.3:c.366+5877_366+5878dup	NM_001936.3:c.366+5876_366+5878dup
DPP6 transcript variant 2	NM_001936.5:c.366+5863=	NM_001936.5:c.366+5876_366+5878del	NM_001936.5:c.366+5877_366+5878del	NM_001936.5:c.366+5878del	NM_001936.5:c.366+5878dup	NM_001936.5:c.366+5877_366+5878dup	NM_001936.5:c.366+5876_366+5878dup
DPP6 transcript variant 1	NM_130797.2:c.552+5863=	NM_130797.2:c.552+5876_552+5878del	NM_130797.2:c.552+5877_552+5878del	NM_130797.2:c.552+5878del	NM_130797.2:c.552+5878dup	NM_130797.2:c.552+5877_552+5878dup	NM_130797.2:c.552+5876_552+5878dup
DPP6 transcript variant 1	NM_130797.4:c.552+5863=	NM_130797.4:c.552+5876_552+5878del	NM_130797.4:c.552+5877_552+5878del	NM_130797.4:c.552+5878del	NM_130797.4:c.552+5878dup	NM_130797.4:c.552+5877_552+5878dup	NM_130797.4:c.552+5876_552+5878dup
DPP6 transcript variant X2	XM_047419951.1:c.369+5863=	XM_047419951.1:c.369+5876_369+5878del	XM_047419951.1:c.369+5877_369+5878del	XM_047419951.1:c.369+5878del	XM_047419951.1:c.369+5878dup	XM_047419951.1:c.369+5877_369+5878dup	XM_047419951.1:c.369+5876_369+5878dup

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#.

49 SubSNP, 18 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ABI	ss42897562	Mar 13, 2006 (126)
2	ABI	ss43060280	Dec 03, 2013 (138)
3	GMI	ss288882846	May 04, 2012 (137)
4	PJP	ss295363858	May 09, 2011 (134)
5	SSMP	ss663759869	Apr 01, 2015 (144)
6	BILGI_BIOE	ss666423283	Apr 25, 2013 (138)
7	SSIP	ss947210788	Aug 21, 2014 (142)
8	1000GENOMES	ss1367796610	Aug 21, 2014 (142)
9	1000GENOMES	ss1367796612	Aug 21, 2014 (142)
10	EVA_GENOME_DK	ss1577122062	Apr 01, 2015 (144)
11	SYSTEMSBIOZJU	ss2626894031	Nov 08, 2017 (151)
12	SWEGEN	ss3002346549	Nov 08, 2017 (151)
13	MCHAISSO	ss3066180102	Nov 08, 2017 (151)
14	BEROUKHIMLAB	ss3644252484	Oct 12, 2018 (152)
15	BIOINF_KMB_FNS_UNIBA	ss3646068715	Oct 12, 2018 (152)
16	URBANLAB	ss3648797490	Oct 12, 2018 (152)
17	EVA_DECODE	ss3721049458	Jul 13, 2019 (153)
18	EVA_DECODE	ss3721049459	Jul 13, 2019 (153)
19	EVA_DECODE	ss3721049460	Jul 13, 2019 (153)
20	ACPOP	ss3735227928	Jul 13, 2019 (153)
21	PACBIO	ss3786010116	Jul 13, 2019 (153)
22	PACBIO	ss3791281030	Jul 13, 2019 (153)
23	KHV_HUMAN_GENOMES	ss3810549018	Jul 13, 2019 (153)
24	KHV_HUMAN_GENOMES	ss3810549019	Jul 13, 2019 (153)
25	EVA	ss3830911638	Apr 26, 2020 (154)
26	EVA	ss3838957104	Apr 26, 2020 (154)
27	EVA	ss3844414862	Apr 26, 2020 (154)
28	KOGIC	ss3962934736	Apr 26, 2020 (154)
29	KOGIC	ss3962934737	Apr 26, 2020 (154)
30	KOGIC	ss3962934738	Apr 26, 2020 (154)
31	KOGIC	ss3962934739	Apr 26, 2020 (154)
32	GNOMAD	ss4176237038	Apr 26, 2021 (155)
33	GNOMAD	ss4176237039	Apr 26, 2021 (155)
34	GNOMAD	ss4176237040	Apr 26, 2021 (155)
35	TOMMO_GENOMICS	ss5186417794	Apr 26, 2021 (155)
36	TOMMO_GENOMICS	ss5186417795	Apr 26, 2021 (155)
37	TOMMO_GENOMICS	ss5186417796	Apr 26, 2021 (155)
38	1000G_HIGH_COVERAGE	ss5275391030	Oct 16, 2022 (156)
39	1000G_HIGH_COVERAGE	ss5275391031	Oct 16, 2022 (156)
40	1000G_HIGH_COVERAGE	ss5275391032	Oct 16, 2022 (156)
41	HUGCELL_USP	ss5472183737	Oct 16, 2022 (156)
42	HUGCELL_USP	ss5472183738	Oct 16, 2022 (156)
43	HUGCELL_USP	ss5472183739	Oct 16, 2022 (156)
44	HUGCELL_USP	ss5472183740	Oct 16, 2022 (156)
45	TOMMO_GENOMICS	ss5727675485	Oct 16, 2022 (156)
46	TOMMO_GENOMICS	ss5727675486	Oct 16, 2022 (156)
47	TOMMO_GENOMICS	ss5727675487	Oct 16, 2022 (156)
48	EVA	ss5823777116	Oct 16, 2022 (156)
49	EVA	ss5856168826	Oct 16, 2022 (156)
50	1000Genomes	NC_000007.13 - 154243574	Oct 12, 2018 (152)
51	The Danish reference pan genome	NC_000007.13 - 154243574	Apr 26, 2020 (154)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 281864989 (NC_000007.14:154546488::A 463/133058) Row 281864990 (NC_000007.14:154546488:A: 49254/132880) Row 281864991 (NC_000007.14:154546488:AA: 10981/132952)...	-	Apr 26, 2021 (155)
53	gnomAD - Genomes Submission ignored due to conflicting rows: Row 281864989 (NC_000007.14:154546488::A 463/133058) Row 281864990 (NC_000007.14:154546488:A: 49254/132880) Row 281864991 (NC_000007.14:154546488:AA: 10981/132952)...	-	Apr 26, 2021 (155)
54	gnomAD - Genomes Submission ignored due to conflicting rows: Row 281864989 (NC_000007.14:154546488::A 463/133058) Row 281864990 (NC_000007.14:154546488:A: 49254/132880) Row 281864991 (NC_000007.14:154546488:AA: 10981/132952)...	-	Apr 26, 2021 (155)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 281864989 (NC_000007.14:154546488::A 463/133058) Row 281864990 (NC_000007.14:154546488:A: 49254/132880) Row 281864991 (NC_000007.14:154546488:AA: 10981/132952)...	-	Apr 26, 2021 (155)
56	Korean Genome Project Submission ignored due to conflicting rows: Row 19312737 (NC_000007.14:154546490:A: 364/1832) Row 19312738 (NC_000007.14:154546491::A 53/1832) Row 19312739 (NC_000007.14:154546489:AA: 107/1832)...	-	Apr 26, 2020 (154)
57	Korean Genome Project Submission ignored due to conflicting rows: Row 19312737 (NC_000007.14:154546490:A: 364/1832) Row 19312738 (NC_000007.14:154546491::A 53/1832) Row 19312739 (NC_000007.14:154546489:AA: 107/1832)...	-	Apr 26, 2020 (154)
58	Korean Genome Project Submission ignored due to conflicting rows: Row 19312737 (NC_000007.14:154546490:A: 364/1832) Row 19312738 (NC_000007.14:154546491::A 53/1832) Row 19312739 (NC_000007.14:154546489:AA: 107/1832)...	-	Apr 26, 2020 (154)
59	Korean Genome Project Submission ignored due to conflicting rows: Row 19312737 (NC_000007.14:154546490:A: 364/1832) Row 19312738 (NC_000007.14:154546491::A 53/1832) Row 19312739 (NC_000007.14:154546489:AA: 107/1832)...	-	Apr 26, 2020 (154)
60	Northern Sweden	NC_000007.13 - 154243574	Jul 13, 2019 (153)
61	8.3KJPN Submission ignored due to conflicting rows: Row 44387101 (NC_000007.13:154243573:A: 1759/16758) Row 44387102 (NC_000007.13:154243573:AA: 864/16758) Row 44387103 (NC_000007.13:154243573::A 36/16758)	-	Apr 26, 2021 (155)
62	8.3KJPN Submission ignored due to conflicting rows: Row 44387101 (NC_000007.13:154243573:A: 1759/16758) Row 44387102 (NC_000007.13:154243573:AA: 864/16758) Row 44387103 (NC_000007.13:154243573::A 36/16758)	-	Apr 26, 2021 (155)
63	8.3KJPN Submission ignored due to conflicting rows: Row 44387101 (NC_000007.13:154243573:A: 1759/16758) Row 44387102 (NC_000007.13:154243573:AA: 864/16758) Row 44387103 (NC_000007.13:154243573::A 36/16758)	-	Apr 26, 2021 (155)
64	14KJPN Submission ignored due to conflicting rows: Row 61512589 (NC_000007.14:154546488:A: 2945/28258) Row 61512590 (NC_000007.14:154546488:AA: 1482/28258) Row 61512591 (NC_000007.14:154546488::A 63/28258)	-	Oct 16, 2022 (156)
65	14KJPN Submission ignored due to conflicting rows: Row 61512589 (NC_000007.14:154546488:A: 2945/28258) Row 61512590 (NC_000007.14:154546488:AA: 1482/28258) Row 61512591 (NC_000007.14:154546488::A 63/28258)	-	Oct 16, 2022 (156)
66	14KJPN Submission ignored due to conflicting rows: Row 61512589 (NC_000007.14:154546488:A: 2945/28258) Row 61512590 (NC_000007.14:154546488:AA: 1482/28258) Row 61512591 (NC_000007.14:154546488::A 63/28258)	-	Oct 16, 2022 (156)
67	ALFA	NC_000007.14 - 154546489	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)
rs34916818	May 11, 2012 (137)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss3962934739, ss4176237040	NC_000007.14:154546488:AAA:	NC_000007.14:154546488:AAAAAAAAAAA… NC_000007.14:154546488:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
14276700471	NC_000007.14:154546488:AAAAAAAAAAA… NC_000007.14:154546488:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000007.14:154546488:AAAAAAAAAAA… NC_000007.14:154546488:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss295363858	NC_000007.12:153874506:AA:	NC_000007.14:154546488:AAAAAAAAAAA… NC_000007.14:154546488:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
39922137, ss663759869, ss1367796610, ss3786010116, ss5186417795	NC_000007.13:154243573:AA:	NC_000007.14:154546488:AAAAAAAAAAA… NC_000007.14:154546488:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss3066180102, ss3721049460, ss3810549018, ss4176237039, ss5275391031, ss5472183739, ss5727675486	NC_000007.14:154546488:AA:	NC_000007.14:154546488:AAAAAAAAAAA… NC_000007.14:154546488:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
14276700471	NC_000007.14:154546488:AAAAAAAAAAA… NC_000007.14:154546488:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000007.14:154546488:AAAAAAAAAAA… NC_000007.14:154546488:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss3962934738	NC_000007.14:154546489:AA:	NC_000007.14:154546488:AAAAAAAAAAA… NC_000007.14:154546488:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss288882846	NC_000007.12:153874506:A:	NC_000007.14:154546488:AAAAAAAAAAA… NC_000007.14:154546488:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
1195041, 8512793, ss666423283, ss1577122062, ss2626894031, ss3002346549, ss3644252484, ss3735227928, ss3791281030, ss3830911638, ss3838957104, ss5186417794, ss5823777116	NC_000007.13:154243573:A:	NC_000007.14:154546488:AAAAAAAAAAA… NC_000007.14:154546488:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss947210788, ss1367796612	NC_000007.13:154243574:A:	NC_000007.14:154546488:AAAAAAAAAAA… NC_000007.14:154546488:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss3646068715, ss3648797490, ss3844414862, ss5275391030, ss5472183737, ss5727675485, ss5856168826	NC_000007.14:154546488:A:	NC_000007.14:154546488:AAAAAAAAAAA… NC_000007.14:154546488:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
14276700471	NC_000007.14:154546488:AAAAAAAAAAA… NC_000007.14:154546488:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000007.14:154546488:AAAAAAAAAAA… NC_000007.14:154546488:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss3721049459, ss3810549019	NC_000007.14:154546489:A:	NC_000007.14:154546488:AAAAAAAAAAA… NC_000007.14:154546488:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss3962934736	NC_000007.14:154546490:A:	NC_000007.14:154546488:AAAAAAAAAAA… NC_000007.14:154546488:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss42897562	NT_007914.15:14839196:A:	NC_000007.14:154546488:AAAAAAAAAAA… NC_000007.14:154546488:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss43060280	NT_007914.15:14839197:A:	NC_000007.14:154546488:AAAAAAAAAAA… NC_000007.14:154546488:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss5186417796	NC_000007.13:154243573::A	NC_000007.14:154546488:AAAAAAAAAAA… NC_000007.14:154546488:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4176237038, ss5275391032, ss5472183738, ss5727675487	NC_000007.14:154546488::A	NC_000007.14:154546488:AAAAAAAAAAA… NC_000007.14:154546488:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
14276700471	NC_000007.14:154546488:AAAAAAAAAAA… NC_000007.14:154546488:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000007.14:154546488:AAAAAAAAAAA… NC_000007.14:154546488:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3721049458	NC_000007.14:154546490::A	NC_000007.14:154546488:AAAAAAAAAAA… NC_000007.14:154546488:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3962934737	NC_000007.14:154546491::A	NC_000007.14:154546488:AAAAAAAAAAA… NC_000007.14:154546488:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
14276700471	NC_000007.14:154546488:AAAAAAAAAAA… NC_000007.14:154546488:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000007.14:154546488:AAAAAAAAAAA… NC_000007.14:154546488:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss5472183740	NC_000007.14:154546488::AAA	NC_000007.14:154546488:AAAAAAAAAAA… NC_000007.14:154546488:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
14276700471	NC_000007.14:154546488:AAAAAAAAAAA… NC_000007.14:154546488:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000007.14:154546488:AAAAAAAAAAA… NC_000007.14:154546488:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(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 rs34283278

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

rs34283278