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dbSNP Short Genetic Variations

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.


Current Build 155

Released April 9, 2021

Homo sapiens
chr17:7222175 (GRCh38.p13) 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.

A>C / A>G
Variation Type
SNV Single Nucleotide Variation
C=0.000004 (1/264690, TOPMED)
C=0.000004 (1/251484, GnomAD_exome)
C=0.000014 (2/140210, GnomAD) (+ 2 more)
C=0.000008 (1/121390, ExAC)
C=0.00007 (1/14528, ALFA)
Clinical Significance
Reported in ClinVar
Gene : Consequence
ACADVL : Splice Acceptor Variant
8 citations
Genomic View
See rs on genome

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.p13 chr 17 NC_000017.11:g.7222175A>C
GRCh38.p13 chr 17 NC_000017.11:g.7222175A>G
GRCh37.p13 chr 17 NC_000017.10:g.7125494A>C
GRCh37.p13 chr 17 NC_000017.10:g.7125494A>G
DLG4 RefSeqGene NG_008391.2:g.2876T>G
DLG4 RefSeqGene NG_008391.2:g.2876T>C
ACADVL RefSeqGene NG_007975.1:g.7342A>C
ACADVL RefSeqGene NG_007975.1:g.7342A>G
Gene: ACADVL, acyl-CoA dehydrogenase very long chain (plus strand)
Molecule type Change Amino acid[Codon] SO Term
ACADVL transcript variant 1 NM_000018.4:c. N/A Splice Acceptor Variant
ACADVL transcript variant 2 NM_001033859.3:c. N/A Splice Acceptor Variant
ACADVL transcript variant 3 NM_001270447.2:c. N/A Splice Acceptor Variant
ACADVL transcript variant 4 NM_001270448.2:c. N/A Splice Acceptor Variant
ACADVL transcript variant X1 XM_006721516.3:c. N/A Splice Acceptor Variant
ACADVL transcript variant X3 XM_011523829.2:c. N/A Splice Acceptor Variant
ACADVL transcript variant X4 XM_011523830.2:c. N/A Splice Acceptor Variant
ACADVL transcript variant X2 XM_024450741.1:c. N/A Splice Acceptor Variant
ACADVL transcript variant X5 XR_934021.2:n. N/A Splice Acceptor Variant
ACADVL transcript variant X6 XR_934022.2:n. N/A Splice Acceptor Variant
ACADVL transcript variant X7 XR_934023.2:n. N/A Splice Acceptor 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.

Allele: C (allele ID: 98201 )
ClinVar Accession Disease Names Clinical Significance
RCV000077923.6 not provided Pathogenic
RCV000180449.8 Very long chain acyl-CoA dehydrogenase deficiency Pathogenic
Allele: G (allele ID: 921176 )
ClinVar Accession Disease Names Clinical Significance
RCV001200800.1 Very long chain acyl-CoA dehydrogenase deficiency Pathogenic

ALFA Allele Frequency (New)
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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 14528 A=0.99993 C=0.00007
European Sub 9690 A=0.9999 C=0.0001
African Sub 3324 A=1.0000 C=0.0000
African Others Sub 114 A=1.000 C=0.000
African American Sub 3210 A=1.0000 C=0.0000
Asian Sub 112 A=1.000 C=0.000
East Asian Sub 86 A=1.00 C=0.00
Other Asian Sub 26 A=1.00 C=0.00
Latin American 1 Sub 146 A=1.000 C=0.000
Latin American 2 Sub 610 A=1.000 C=0.000
South Asian Sub 98 A=1.00 C=0.00
Other Sub 548 A=1.000 C=0.000


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").

Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 A=0.999996 C=0.000004
gnomAD - Exomes Global Study-wide 251484 A=0.999996 C=0.000004
gnomAD - Exomes European Sub 135412 A=0.999993 C=0.000007
gnomAD - Exomes Asian Sub 49010 A=1.00000 C=0.00000
gnomAD - Exomes American Sub 34588 A=1.00000 C=0.00000
gnomAD - Exomes African Sub 16256 A=1.00000 C=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10078 A=1.00000 C=0.00000
gnomAD - Exomes Other Sub 6140 A=1.0000 C=0.0000
gnomAD - Genomes Global Study-wide 140210 A=0.999986 C=0.000014
gnomAD - Genomes European Sub 75928 A=0.99997 C=0.00003
gnomAD - Genomes African Sub 42022 A=1.00000 C=0.00000
gnomAD - Genomes American Sub 13656 A=1.00000 C=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3322 A=1.0000 C=0.0000
gnomAD - Genomes East Asian Sub 3132 A=1.0000 C=0.0000
gnomAD - Genomes Other Sub 2150 A=1.0000 C=0.0000
ExAC Global Study-wide 121390 A=0.999992 C=0.000008
ExAC Europe Sub 73338 A=0.99999 C=0.00001
ExAC Asian Sub 25166 A=1.00000 C=0.00000
ExAC American Sub 11576 A=1.00000 C=0.00000
ExAC African Sub 10402 A=1.00000 C=0.00000
ExAC Other Sub 908 A=1.000 C=0.000

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= C G
GRCh38.p13 chr 17 NC_000017.11:g.7222175= NC_000017.11:g.7222175A>C NC_000017.11:g.7222175A>G
GRCh37.p13 chr 17 NC_000017.10:g.7125494= NC_000017.10:g.7125494A>C NC_000017.10:g.7125494A>G
DLG4 RefSeqGene NG_008391.2:g.2876= NG_008391.2:g.2876T>G NG_008391.2:g.2876T>C
ACADVL RefSeqGene NG_007975.1:g.7342= NG_007975.1:g.7342A>C NG_007975.1:g.7342A>G

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#.

10 SubSNP, 5 Frequency, 3 ClinVar submissions
No Submitter Submission ID Date (Build)
1 EGL ss947846750 Jan 23, 2014 (138)
2 EVA_EXAC ss1692563680 Apr 01, 2015 (144)
3 GNOMAD ss2742385705 Nov 08, 2017 (151)
4 GNOMAD ss2749672675 Nov 08, 2017 (151)
5 GNOMAD ss2947395463 Nov 08, 2017 (151)
6 ILLUMINA ss3021751273 Nov 08, 2017 (151)
7 TOPMED ss3256594256 Nov 08, 2017 (151)
8 ILLUMINA ss3652164052 Oct 12, 2018 (152)
9 ILLUMINA ss3725599173 Jul 13, 2019 (153)
10 TOPMED ss5028550450 Apr 27, 2021 (155)
11 ExAC NC_000017.10 - 7125494 Oct 12, 2018 (152)
12 gnomAD - Genomes NC_000017.11 - 7222175 Apr 27, 2021 (155)
13 gnomAD - Exomes NC_000017.10 - 7125494 Jul 13, 2019 (153)
14 TopMed NC_000017.11 - 7222175 Apr 27, 2021 (155)
15 ALFA NC_000017.11 - 7222175 Apr 27, 2021 (155)
16 ClinVar RCV000077923.6 Apr 27, 2020 (154)
17 ClinVar RCV000180449.8 Apr 27, 2021 (155)
18 ClinVar RCV001200800.1 Apr 27, 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
2990237, 11683150, ss1692563680, ss2742385705, ss2749672675, ss2947395463, ss3021751273, ss3652164052 NC_000017.10:7125493:A:C NC_000017.11:7222174:A:C (self)
RCV000077923.6, RCV000180449.8, 500716086, 152330466, 244096112, 4748383957, ss947846750, ss3256594256, ss3725599173, ss5028550450 NC_000017.11:7222174:A:C NC_000017.11:7222174:A:C (self)
RCV001200800.1 NC_000017.11:7222174:A:G NC_000017.11:7222174:A:G

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

8 citations for rs398123092
PMID Title Author Year Journal
9973285 Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency. Andresen BS et al. 1999 American journal of human genetics
10077518 Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden death. Mathur A et al. 1999 Circulation
10738914 Clinical and molecular heterogeneity in very-long-chain acyl-coenzyme A dehydrogenase deficiency. Pons R et al. 2000 Pediatric neurology
16488171 VLCAD deficiency: pitfalls in newborn screening and confirmation of diagnosis by mutation analysis. Boneh A et al. 2006 Molecular genetics and metabolism
17999356 Genetic basis for correction of very-long-chain acyl-coenzyme A dehydrogenase deficiency by bezafibrate in patient fibroblasts: toward a genotype-based therapy. Gobin-Limballe S et al. 2007 American journal of human genetics
23757202 Free the data: one laboratory's approach to knowledge-based genomic variant classification and preparation for EMR integration of genomic data. Bean LJ et al. 2013 Human mutation
25525159 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. Xiong HY et al. 2015 Science (New York, N.Y.)
26385305 Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States. Miller MJ et al. 2015 Molecular genetics and metabolism

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.

Software version is: 2.0.1.post596+ae089ad