Name: rs1491529535
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.

rs1491529535

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr7:154425620 (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: insTGGG / insTGTGGG / ins(TG)₃GG
Variation Type: Indel Insertion and Deletion
Frequency: insTGTGGG=0.00000 (0/93820, GnomAD)
insTGGG=0.00000 (0/11846, ALFA)

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	HWEP
Total	Global	11846	G=1.00000	GTGGG=0.00000	1.0	N/A
European	Sub	7608	G=1.0000	GTGGG=0.0000	1.0	N/A
African	Sub	2814	G=1.0000	GTGGG=0.0000	1.0	N/A
African Others	Sub	108	G=1.000	GTGGG=0.000	1.0	N/A
African American	Sub	2706	G=1.0000	GTGGG=0.0000	1.0	N/A
Asian	Sub	108	G=1.000	GTGGG=0.000	1.0	N/A
East Asian	Sub	84	G=1.00	GTGGG=0.00	1.0	N/A
Other Asian	Sub	24	G=1.00	GTGGG=0.00	1.0	N/A
Latin American 1	Sub	146	G=1.000	GTGGG=0.000	1.0	N/A
Latin American 2	Sub	610	G=1.000	GTGGG=0.000	1.0	N/A
South Asian	Sub	94	G=1.00	GTGGG=0.00	1.0	N/A
Other	Sub	466	G=1.000	GTGGG=0.000	1.0	N/A

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

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
gnomAD - Genomes	Global	Study-wide	93820	- No frequency provided	insTGTGGG=0.00000
gnomAD - Genomes	European	Sub	59146	- No frequency provided	insTGTGGG=0.00000
gnomAD - Genomes	African	Sub	17698	- No frequency provided	insTGTGGG=0.00000
gnomAD - Genomes	American	Sub	10480	- No frequency provided	insTGTGGG=0.00000
gnomAD - Genomes	Ashkenazi Jewish	Sub	2616	- No frequency provided	insTGTGGG=0.0000
gnomAD - Genomes	East Asian	Sub	2404	- No frequency provided	insTGTGGG=0.0000
gnomAD - Genomes	Other	Sub	1476	- No frequency provided	insTGTGGG=0.0000
Allele Frequency Aggregator	Total	Global	11846	G=1.00000	insTGGG=0.00000
Allele Frequency Aggregator	European	Sub	7608	G=1.0000	insTGGG=0.0000
Allele Frequency Aggregator	African	Sub	2814	G=1.0000	insTGGG=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	610	G=1.000	insTGGG=0.000
Allele Frequency Aggregator	Other	Sub	466	G=1.000	insTGGG=0.000
Allele Frequency Aggregator	Latin American 1	Sub	146	G=1.000	insTGGG=0.000
Allele Frequency Aggregator	Asian	Sub	108	G=1.000	insTGGG=0.000
Allele Frequency Aggregator	South Asian	Sub	94	G=1.00	insTGGG=0.00

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements

Sequence name	Change
GRCh38.p14 chr 7	NC_000007.14:g.154425620_154425621insTGGG
GRCh38.p14 chr 7	NC_000007.14:g.154425620GT[2]GGG[1]
GRCh38.p14 chr 7	NC_000007.14:g.154425620GT[3]GGG[1]
GRCh37.p13 chr 7	NC_000007.13:g.154122705_154122706insTGGG
GRCh37.p13 chr 7	NC_000007.13:g.154122705GT[2]GGG[1]
GRCh37.p13 chr 7	NC_000007.13:g.154122705GT[3]GGG[1]
DPP6 RefSeqGene	NG_033878.2:g.682635_682636insTGGG
DPP6 RefSeqGene	NG_033878.2:g.682635GT[2]GGG[1]
DPP6 RefSeqGene	NG_033878.2:g.682635GT[3]GGG[1]
GRCh38.p14 chr 7 fix patch HG2239_PATCH	NW_012132919.1:g.3269_3270insTGGG
GRCh38.p14 chr 7 fix patch HG2239_PATCH	NW_012132919.1:g.3269GT[2]GGG[1]
GRCh38.p14 chr 7 fix patch HG2239_PATCH	NW_012132919.1:g.3269GT[3]GGG[1]

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

Molecule type	Change	Amino acid[Codon]	SO Term
DPP6 transcript variant 3	NM_001039350.3:c.52-20594… NM_001039350.3:c.52-20594_52-20593insTGGG	N/A	Intron Variant
DPP6 transcript variant 4	NM_001290252.2:c.58-20594… NM_001290252.2:c.58-20594_58-20593insTGGG	N/A	Intron Variant
DPP6 transcript variant 5	NM_001290253.2:c.244-2059… NM_001290253.2:c.244-20594_244-20593insTGGG	N/A	Intron Variant
DPP6 transcript variant 6	NM_001364497.2:c.61-20594… NM_001364497.2:c.61-20594_61-20593insTGGG	N/A	Intron Variant
DPP6 transcript variant 7	NM_001364498.2:c.61-20594… NM_001364498.2:c.61-20594_61-20593insTGGG	N/A	Intron Variant
DPP6 transcript variant 8	NM_001364499.2:c.61-20594… NM_001364499.2:c.61-20594_61-20593insTGGG	N/A	Intron Variant
DPP6 transcript variant 9	NM_001364500.2:c.61-20594… NM_001364500.2:c.61-20594_61-20593insTGGG	N/A	Intron Variant
DPP6 transcript variant 10	NM_001364501.2:c.52-20594… NM_001364501.2:c.52-20594_52-20593insTGGG	N/A	Intron Variant
DPP6 transcript variant 11	NM_001364502.2:c.58-20594… NM_001364502.2:c.58-20594_58-20593insTGGG	N/A	Intron Variant
DPP6 transcript variant 2	NM_001936.5:c.58-20594_58… NM_001936.5:c.58-20594_58-20593insTGGG	N/A	Intron Variant
DPP6 transcript variant 1	NM_130797.4:c.244-20594_2… NM_130797.4:c.244-20594_244-20593insTGGG	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.61-20594… XM_047419951.1:c.61-20594_61-20593insTGGG	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".

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#.

3 SubSNP, 2 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	EVA_DECODE	ss3721047455	Jul 13, 2019 (153)
2	EVA_DECODE	ss3721047457	Jul 13, 2019 (153)
3	GNOMAD	ss4176222383	Apr 26, 2021 (155)
4	gnomAD - Genomes	NC_000007.14 - 154425620	Apr 26, 2021 (155)
5	ALFA	NC_000007.14 - 154425620	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
9039206875	NC_000007.14:154425619:G:GTGGG	NC_000007.14:154425619:G:GTGGG	(self)
ss3721047455	NC_000007.14:154425620::TGGG	NC_000007.14:154425619:G:GTGGG	(self)
281840134, ss4176222383	NC_000007.14:154425619::GTGTGG	NC_000007.14:154425619:G:GTGTGGG	(self)
ss3721047457	NC_000007.14:154425620::TGTGTGGG	NC_000007.14:154425619:G:GTGTGTGGG	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss3549116712	NC_000007.14:154425619::GTGG	NC_000007.14:154425619:G:GTGGG

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

No publications for rs1491529535

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

Placement	G=	insTGGG	insTGTGGG	ins(TG)₃GG
GRCh38.p14 chr 7	NC_000007.14:g.154425620=	NC_000007.14:g.154425620_154425621insTGGG	NC_000007.14:g.154425620GT[2]GGG[1]	NC_000007.14:g.154425620GT[3]GGG[1]
GRCh37.p13 chr 7	NC_000007.13:g.154122705=	NC_000007.13:g.154122705_154122706insTGGG	NC_000007.13:g.154122705GT[2]GGG[1]	NC_000007.13:g.154122705GT[3]GGG[1]
DPP6 RefSeqGene	NG_033878.2:g.682635=	NG_033878.2:g.682635_682636insTGGG	NG_033878.2:g.682635GT[2]GGG[1]	NG_033878.2:g.682635GT[3]GGG[1]
GRCh38.p14 chr 7 fix patch HG2239_PATCH	NW_012132919.1:g.3269=	NW_012132919.1:g.3269_3270insTGGG	NW_012132919.1:g.3269GT[2]GGG[1]	NW_012132919.1:g.3269GT[3]GGG[1]
DPP6 transcript variant 3	NM_001039350.1:c.52-20594=	NM_001039350.1:c.52-20594_52-20593insTGGG	NM_001039350.1:c.52-20594_52-20593insTGTGGG	NM_001039350.1:c.52-20594_52-20593insTGTGTGGG
DPP6 transcript variant 3	NM_001039350.3:c.52-20594=	NM_001039350.3:c.52-20594_52-20593insTGGG	NM_001039350.3:c.52-20594_52-20593insTGTGGG	NM_001039350.3:c.52-20594_52-20593insTGTGTGGG
DPP6 transcript variant 4	NM_001290252.2:c.58-20594=	NM_001290252.2:c.58-20594_58-20593insTGGG	NM_001290252.2:c.58-20594_58-20593insTGTGGG	NM_001290252.2:c.58-20594_58-20593insTGTGTGGG
DPP6 transcript variant 5	NM_001290253.2:c.244-20594=	NM_001290253.2:c.244-20594_244-20593insTGGG	NM_001290253.2:c.244-20594_244-20593insTGTGGG	NM_001290253.2:c.244-20594_244-20593insTGTGTGGG
DPP6 transcript variant 6	NM_001364497.2:c.61-20594=	NM_001364497.2:c.61-20594_61-20593insTGGG	NM_001364497.2:c.61-20594_61-20593insTGTGGG	NM_001364497.2:c.61-20594_61-20593insTGTGTGGG
DPP6 transcript variant 7	NM_001364498.2:c.61-20594=	NM_001364498.2:c.61-20594_61-20593insTGGG	NM_001364498.2:c.61-20594_61-20593insTGTGGG	NM_001364498.2:c.61-20594_61-20593insTGTGTGGG
DPP6 transcript variant 8	NM_001364499.2:c.61-20594=	NM_001364499.2:c.61-20594_61-20593insTGGG	NM_001364499.2:c.61-20594_61-20593insTGTGGG	NM_001364499.2:c.61-20594_61-20593insTGTGTGGG
DPP6 transcript variant 9	NM_001364500.2:c.61-20594=	NM_001364500.2:c.61-20594_61-20593insTGGG	NM_001364500.2:c.61-20594_61-20593insTGTGGG	NM_001364500.2:c.61-20594_61-20593insTGTGTGGG
DPP6 transcript variant 10	NM_001364501.2:c.52-20594=	NM_001364501.2:c.52-20594_52-20593insTGGG	NM_001364501.2:c.52-20594_52-20593insTGTGGG	NM_001364501.2:c.52-20594_52-20593insTGTGTGGG
DPP6 transcript variant 11	NM_001364502.2:c.58-20594=	NM_001364502.2:c.58-20594_58-20593insTGGG	NM_001364502.2:c.58-20594_58-20593insTGTGGG	NM_001364502.2:c.58-20594_58-20593insTGTGTGGG
DPP6 transcript variant 2	NM_001936.3:c.58-20594=	NM_001936.3:c.58-20594_58-20593insTGGG	NM_001936.3:c.58-20594_58-20593insTGTGGG	NM_001936.3:c.58-20594_58-20593insTGTGTGGG
DPP6 transcript variant 2	NM_001936.5:c.58-20594=	NM_001936.5:c.58-20594_58-20593insTGGG	NM_001936.5:c.58-20594_58-20593insTGTGGG	NM_001936.5:c.58-20594_58-20593insTGTGTGGG
DPP6 transcript variant 1	NM_130797.2:c.244-20594=	NM_130797.2:c.244-20594_244-20593insTGGG	NM_130797.2:c.244-20594_244-20593insTGTGGG	NM_130797.2:c.244-20594_244-20593insTGTGTGGG
DPP6 transcript variant 1	NM_130797.4:c.244-20594=	NM_130797.4:c.244-20594_244-20593insTGGG	NM_130797.4:c.244-20594_244-20593insTGTGGG	NM_130797.4:c.244-20594_244-20593insTGTGTGGG
DPP6 transcript variant X2	XM_047419951.1:c.61-20594=	XM_047419951.1:c.61-20594_61-20593insTGGG	XM_047419951.1:c.61-20594_61-20593insTGTGGG	XM_047419951.1:c.61-20594_61-20593insTGTGTGGG

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs1491529535