Name: rs1488187690
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.

rs1488187690

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr8:22049199 (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: C>A / C>G / C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.000193 (51/264690, TOPMED)
A=0.00000 (0/14026, ALFA)
G=0.00000 (0/14026, ALFA) (+ 2 more)
T=0.00000 (0/14026, ALFA)
T=0.0002 (1/6404, 1000G_30x)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: DMTN : 5 Prime UTR Variant
FGF17 : 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	HWEP
Total	Global	14026	C=1.00000	A=0.00000, G=0.00000, T=0.00000	1.0	N/A
European	Sub	9690	C=1.0000	A=0.0000, G=0.0000, T=0.0000	1.0	N/A
African	Sub	2874	C=1.0000	A=0.0000, G=0.0000, T=0.0000	1.0	N/A
African Others	Sub	114	C=1.000	A=0.000, G=0.000, T=0.000	1.0	N/A
African American	Sub	2760	C=1.0000	A=0.0000, G=0.0000, T=0.0000	1.0	N/A
Asian	Sub	112	C=1.000	A=0.000, G=0.000, T=0.000	1.0	N/A
East Asian	Sub	86	C=1.00	A=0.00, G=0.00, T=0.00	1.0	N/A
Other Asian	Sub	26	C=1.00	A=0.00, G=0.00, T=0.00	1.0	N/A
Latin American 1	Sub	146	C=1.000	A=0.000, G=0.000, T=0.000	1.0	N/A
Latin American 2	Sub	610	C=1.000	A=0.000, G=0.000, T=0.000	1.0	N/A
South Asian	Sub	98	C=1.00	A=0.00, G=0.00, T=0.00	1.0	N/A
Other	Sub	496	C=1.000	A=0.000, G=0.000, T=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
TopMed	Global	Study-wide	264690	C=0.999807	A=0.000193
Allele Frequency Aggregator	Total	Global	14026	C=1.00000	A=0.00000, G=0.00000, T=0.00000
Allele Frequency Aggregator	European	Sub	9690	C=1.0000	A=0.0000, G=0.0000, T=0.0000
Allele Frequency Aggregator	African	Sub	2874	C=1.0000	A=0.0000, G=0.0000, T=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	610	C=1.000	A=0.000, G=0.000, T=0.000
Allele Frequency Aggregator	Other	Sub	496	C=1.000	A=0.000, G=0.000, T=0.000
Allele Frequency Aggregator	Latin American 1	Sub	146	C=1.000	A=0.000, G=0.000, T=0.000
Allele Frequency Aggregator	Asian	Sub	112	C=1.000	A=0.000, G=0.000, T=0.000
Allele Frequency Aggregator	South Asian	Sub	98	C=1.00	A=0.00, G=0.00, T=0.00
1000Genomes_30x	Global	Study-wide	6404	C=0.9998	T=0.0002
1000Genomes_30x	African	Sub	1786	C=0.9994	T=0.0006
1000Genomes_30x	Europe	Sub	1266	C=1.0000	T=0.0000
1000Genomes_30x	South Asian	Sub	1202	C=1.0000	T=0.0000
1000Genomes_30x	East Asian	Sub	1170	C=1.0000	T=0.0000
1000Genomes_30x	American	Sub	980	C=1.000	T=0.000

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.22049199C>A
GRCh38.p14 chr 8	NC_000008.11:g.22049199C>G
GRCh38.p14 chr 8	NC_000008.11:g.22049199C>T
GRCh37.p13 chr 8	NC_000008.10:g.21906710C>A
GRCh37.p13 chr 8	NC_000008.10:g.21906710C>G
GRCh37.p13 chr 8	NC_000008.10:g.21906710C>T
FGF17 RefSeqGene	NG_033889.1:g.11283C>A
FGF17 RefSeqGene	NG_033889.1:g.11283C>G
FGF17 RefSeqGene	NG_033889.1:g.11283C>T

Gene: DMTN, dematin actin binding protein (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
DMTN transcript variant 13	NM_001323382.2:c.-64=	N/A	5 Prime UTR Variant
DMTN transcript variant 27	NM_001323397.2:c.-197=	N/A	5 Prime UTR Variant
DMTN transcript variant 37	NM_001387727.1:c.-197=	N/A	5 Prime UTR Variant
DMTN transcript variant 33	NM_001387723.1:c.-64=	N/A	5 Prime UTR Variant
DMTN transcript variant 36	NM_001387726.1:c.-197=	N/A	5 Prime UTR Variant
DMTN transcript variant 2	NM_001114135.5:c.	N/A	Genic Upstream Transcript Variant
DMTN transcript variant 3	NM_001114136.3:c.	N/A	Genic Upstream Transcript Variant
DMTN transcript variant 4	NM_001114137.4:c.	N/A	Genic Upstream Transcript Variant
DMTN transcript variant 5	NM_001114138.3:c.	N/A	Genic Upstream Transcript Variant
DMTN transcript variant 6	NM_001114139.4:c.	N/A	Genic Upstream Transcript Variant
DMTN transcript variant 7	NM_001302816.3:c.	N/A	Genic Upstream Transcript Variant
DMTN transcript variant 8	NM_001302817.3:c.	N/A	Genic Upstream Transcript Variant
DMTN transcript variant 9	NM_001323378.2:c.	N/A	Genic Upstream Transcript Variant
DMTN transcript variant 10	NM_001323379.2:c.	N/A	Genic Upstream Transcript Variant
DMTN transcript variant 11	NM_001323380.2:c.	N/A	Genic Upstream Transcript Variant
DMTN transcript variant 12	NM_001323381.2:c.	N/A	Genic Upstream Transcript Variant
DMTN transcript variant 14	NM_001323383.2:c.	N/A	Genic Upstream Transcript Variant
DMTN transcript variant 15	NM_001323384.2:c.	N/A	Genic Upstream Transcript Variant
DMTN transcript variant 16	NM_001323385.2:c.	N/A	Genic Upstream Transcript Variant
DMTN transcript variant 17	NM_001323387.2:c.	N/A	Genic Upstream Transcript Variant
DMTN transcript variant 18	NM_001323388.2:c.	N/A	Genic Upstream Transcript Variant
DMTN transcript variant 19	NM_001323389.2:c.	N/A	Genic Upstream Transcript Variant
DMTN transcript variant 20	NM_001323390.2:c.	N/A	Genic Upstream Transcript Variant
DMTN transcript variant 21	NM_001323391.2:c.	N/A	Genic Upstream Transcript Variant
DMTN transcript variant 22	NM_001323392.2:c.	N/A	Genic Upstream Transcript Variant
DMTN transcript variant 23	NM_001323393.2:c.	N/A	Genic Upstream Transcript Variant
DMTN transcript variant 24	NM_001323394.2:c.	N/A	Genic Upstream Transcript Variant
DMTN transcript variant 25	NM_001323395.2:c.	N/A	Genic Upstream Transcript Variant
DMTN transcript variant 26	NM_001323396.2:c.	N/A	Genic Upstream Transcript Variant
DMTN transcript variant 28	NM_001323398.2:c.	N/A	Genic Upstream Transcript Variant
DMTN transcript variant 29	NM_001323399.2:c.	N/A	Genic Upstream Transcript Variant
DMTN transcript variant 30	NM_001323400.2:c.	N/A	Genic Upstream Transcript Variant
DMTN transcript variant 31	NM_001323401.2:c.	N/A	Genic Upstream Transcript Variant
DMTN transcript variant 38	NM_001387728.1:c.	N/A	Genic Upstream Transcript Variant
DMTN transcript variant 40	NM_001387730.1:c.	N/A	Genic Upstream Transcript Variant
DMTN transcript variant 42	NM_001387732.1:c.	N/A	Genic Upstream Transcript Variant
DMTN transcript variant 44	NM_001387734.1:c.	N/A	Genic Upstream Transcript Variant
DMTN transcript variant 45	NM_001387735.1:c.	N/A	Genic Upstream Transcript Variant
DMTN transcript variant 46	NM_001387736.1:c.	N/A	Genic Upstream Transcript Variant
DMTN transcript variant 47	NM_001387737.1:c.	N/A	Genic Upstream Transcript Variant
DMTN transcript variant 52	NM_001387742.1:c.	N/A	Genic Upstream Transcript Variant
DMTN transcript variant 53	NM_001387743.1:c.	N/A	Genic Upstream Transcript Variant
DMTN transcript variant 54	NM_001387744.1:c.	N/A	Genic Upstream Transcript Variant
DMTN transcript variant 55	NM_001387745.1:c.	N/A	Genic Upstream Transcript Variant
DMTN transcript variant 60	NM_001387750.1:c.	N/A	Genic Upstream Transcript Variant
DMTN transcript variant 61	NM_001387751.1:c.	N/A	Genic Upstream Transcript Variant
DMTN transcript variant 62	NM_001387752.1:c.	N/A	Genic Upstream Transcript Variant
DMTN transcript variant 63	NM_001387753.1:c.	N/A	Genic Upstream Transcript Variant
DMTN transcript variant 64	NM_001387754.1:c.	N/A	Genic Upstream Transcript Variant
DMTN transcript variant 65	NM_001387755.1:c.	N/A	Genic Upstream Transcript Variant
DMTN transcript variant 66	NM_001387756.1:c.	N/A	Genic Upstream Transcript Variant
DMTN transcript variant 67	NM_001387757.1:c.	N/A	Genic Upstream Transcript Variant
DMTN transcript variant 1	NM_001978.5:c.	N/A	Genic Upstream Transcript Variant
DMTN transcript variant X15	XM_017013194.2:c.	N/A	Genic Upstream Transcript Variant
DMTN transcript variant X1	XM_047421496.1:c.	N/A	Genic Upstream Transcript Variant
DMTN transcript variant X2	XM_047421497.1:c.	N/A	Genic Upstream Transcript Variant
DMTN transcript variant X3	XM_047421498.1:c.	N/A	Genic Upstream Transcript Variant
DMTN transcript variant X4	XM_047421499.1:c.	N/A	Genic Upstream Transcript Variant
DMTN transcript variant X5	XM_047421500.1:c.	N/A	Genic Upstream Transcript Variant
DMTN transcript variant X6	XM_047421501.1:c.	N/A	Genic Upstream Transcript Variant
DMTN transcript variant X7	XM_047421502.1:c.	N/A	Genic Upstream Transcript Variant
DMTN transcript variant X8	XM_047421503.1:c.	N/A	Genic Upstream Transcript Variant
DMTN transcript variant X9	XM_047421504.1:c.	N/A	Genic Upstream Transcript Variant
DMTN transcript variant X10	XM_047421505.1:c.	N/A	Genic Upstream Transcript Variant
DMTN transcript variant X11	XM_047421506.1:c.	N/A	Genic Upstream Transcript Variant
DMTN transcript variant X12	XM_047421507.1:c.	N/A	Genic Upstream Transcript Variant
DMTN transcript variant X13	XM_047421508.1:c.	N/A	Genic Upstream Transcript Variant
DMTN transcript variant X14	XM_047421509.1:c.	N/A	Genic Upstream Transcript Variant
DMTN transcript variant X16	XM_047421510.1:c.	N/A	Genic Upstream Transcript Variant
DMTN transcript variant X17	XM_047421511.1:c.	N/A	Genic Upstream Transcript Variant

Gene: FGF17, fibroblast growth factor 17 (plus strand) : 500B Downstream Variant

Molecule type	Change	Amino acid[Codon]	SO Term
FGF17 transcript variant 2	NM_001304478.1:c.	N/A	Downstream Transcript Variant
FGF17 transcript variant 1	NM_003867.4:c.	N/A	Downstream Transcript Variant
FGF17 transcript variant X1	XM_005273675.2:c.	N/A	Downstream Transcript Variant
FGF17 transcript variant X2	XM_011544683.2:c.	N/A	Downstream Transcript Variant
FGF17 transcript variant X3	XM_011544684.2:c.	N/A	Downstream Transcript Variant
FGF17 transcript variant X4	XM_011544685.2:c.	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	C=	A	G	T
GRCh38.p14 chr 8	NC_000008.11:g.22049199=	NC_000008.11:g.22049199C>A	NC_000008.11:g.22049199C>G	NC_000008.11:g.22049199C>T
GRCh37.p13 chr 8	NC_000008.10:g.21906710=	NC_000008.10:g.21906710C>A	NC_000008.10:g.21906710C>G	NC_000008.10:g.21906710C>T
FGF17 RefSeqGene	NG_033889.1:g.11283=	NG_033889.1:g.11283C>A	NG_033889.1:g.11283C>G	NG_033889.1:g.11283C>T
DMTN transcript variant 27	NM_001323397.2:c.-197=	NM_001323397.2:c.-197C>A	NM_001323397.2:c.-197C>G	NM_001323397.2:c.-197C>T
DMTN transcript variant 27	NM_001323397.1:c.-197=	NM_001323397.1:c.-197C>A	NM_001323397.1:c.-197C>G	NM_001323397.1:c.-197C>T
DMTN transcript variant 13	NM_001323382.2:c.-64=	NM_001323382.2:c.-64C>A	NM_001323382.2:c.-64C>G	NM_001323382.2:c.-64C>T
DMTN transcript variant 13	NM_001323382.1:c.-64=	NM_001323382.1:c.-64C>A	NM_001323382.1:c.-64C>G	NM_001323382.1:c.-64C>T
DMTN transcript variant 37	NM_001387727.1:c.-197=	NM_001387727.1:c.-197C>A	NM_001387727.1:c.-197C>G	NM_001387727.1:c.-197C>T
DMTN transcript variant 36	NM_001387726.1:c.-197=	NM_001387726.1:c.-197C>A	NM_001387726.1:c.-197C>G	NM_001387726.1:c.-197C>T
DMTN transcript variant 33	NM_001387723.1:c.-64=	NM_001387723.1:c.-64C>A	NM_001387723.1:c.-64C>G	NM_001387723.1:c.-64C>T

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#.

4 SubSNP, 6 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	GNOMAD	ss2864289900	Nov 08, 2017 (151)
2	TOPMED	ss4778707771	Apr 26, 2021 (155)
3	H3AFRICA	ss5239300612	Oct 16, 2022 (156)
4	1000G_HIGH_COVERAGE	ss5566348498	Oct 16, 2022 (156)
5	1000Genomes_30x	NC_000008.11 - 22049199	Oct 16, 2022 (156)
6	gnomAD - Genomes Submission ignored due to conflicting rows: Row 289707562 (NC_000008.11:22049198:C:A 23/127378) Row 289707563 (NC_000008.11:22049198:C:G 1/127378) Row 289707564 (NC_000008.11:22049198:C:T 60/127376)	-	Apr 26, 2021 (155)
7	gnomAD - Genomes Submission ignored due to conflicting rows: Row 289707562 (NC_000008.11:22049198:C:A 23/127378) Row 289707563 (NC_000008.11:22049198:C:G 1/127378) Row 289707564 (NC_000008.11:22049198:C:T 60/127376)	-	Apr 26, 2021 (155)
8	gnomAD - Genomes Submission ignored due to conflicting rows: Row 289707562 (NC_000008.11:22049198:C:A 23/127378) Row 289707563 (NC_000008.11:22049198:C:G 1/127378) Row 289707564 (NC_000008.11:22049198:C:T 60/127376)	-	Apr 26, 2021 (155)
9	TopMed	NC_000008.11 - 22049199	Apr 26, 2021 (155)
10	ALFA	NC_000008.11 - 22049199	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
ss2864289900	NC_000008.10:21906709:C:A	NC_000008.11:22049198:C:A	(self)
616085331, 7918966399, ss4778707771	NC_000008.11:22049198:C:A	NC_000008.11:22049198:C:A	(self)
7918966399	NC_000008.11:22049198:C:G	NC_000008.11:22049198:C:G	(self)
ss2864289900, ss5239300612	NC_000008.10:21906709:C:T	NC_000008.11:22049198:C:T	(self)
53874433, 7918966399, ss5566348498	NC_000008.11:22049198:C:T	NC_000008.11:22049198:C:T	(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 rs1488187690

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:

Select flank length:

Genomic regions, transcripts, and products
Top▲ Help
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs1488187690