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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.

rs375806217

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr17:7224696 (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.

Alleles
T>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.000060 (16/264690, TOPMED)
C=0.000009 (2/213112, GnomAD_exome)
C=0.000092 (12/130972, GnomAD) (+ 4 more)
C=0.00008 (3/39118, ExAC)
C=0.00007 (1/14050, ALFA)
C=0.00008 (1/12948, GO-ESP)
C=0.0002 (1/5008, 1000G)
Clinical Significance
Reported in ClinVar
Gene : Consequence
ACADVL : Missense Variant
MIR324 : 2KB Upstream Variant
Publications
1 citation
Genomic View
See rs on genome
Help

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.7224696T>C
GRCh37.p13 chr 17 NC_000017.10:g.7128015T>C
DLG4 RefSeqGene NG_008391.2:g.355A>G
DVL2 RefSeqGene NG_033038.1:g.14849A>G
ACADVL RefSeqGene NG_007975.1:g.9863T>C
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.1733T>C M [ATG] > T [ACG] Coding Sequence Variant
very long-chain specific acyl-CoA dehydrogenase, mitochondrial isoform 1 precursor NP_000009.1:p.Met578Thr M (Met) > T (Thr) Missense Variant
ACADVL transcript variant 2 NM_001033859.3:c.1667T>C M [ATG] > T [ACG] Coding Sequence Variant
very long-chain specific acyl-CoA dehydrogenase, mitochondrial isoform 2 precursor NP_001029031.1:p.Met556Thr M (Met) > T (Thr) Missense Variant
ACADVL transcript variant 4 NM_001270448.2:c.1505T>C M [ATG] > T [ACG] Coding Sequence Variant
very long-chain specific acyl-CoA dehydrogenase, mitochondrial isoform 4 NP_001257377.1:p.Met502Thr M (Met) > T (Thr) Missense Variant
ACADVL transcript variant 3 NM_001270447.2:c.1802T>C M [ATG] > T [ACG] Coding Sequence Variant
very long-chain specific acyl-CoA dehydrogenase, mitochondrial isoform 3 NP_001257376.1:p.Met601Thr M (Met) > T (Thr) Missense Variant
ACADVL transcript variant X1 XM_006721516.3:c.1679-19T…

XM_006721516.3:c.1679-19T>C

N/A Intron Variant
ACADVL transcript variant X3 XM_011523829.2:c.1577-19T…

XM_011523829.2:c.1577-19T>C

N/A Intron Variant
ACADVL transcript variant X2 XM_024450741.1:c.1721T>C M [ATG] > T [ACG] Coding Sequence Variant
very long-chain specific acyl-CoA dehydrogenase, mitochondrial isoform X2 XP_024306509.1:p.Met574Thr M (Met) > T (Thr) Missense Variant
ACADVL transcript variant X4 XM_011523830.2:c.1631T>C M [ATG] > T [ACG] Coding Sequence Variant
very long-chain specific acyl-CoA dehydrogenase, mitochondrial isoform X4 XP_011522132.1:p.Met544Thr M (Met) > T (Thr) Missense Variant
ACADVL transcript variant X5 XR_934021.2:n.1788T>C N/A Non Coding Transcript Variant
ACADVL transcript variant X6 XR_934022.2:n.1694T>C N/A Non Coding Transcript Variant
ACADVL transcript variant X7 XR_934023.2:n. N/A Intron Variant
Gene: MIR324, microRNA 324 (minus strand) : 2KB Upstream Variant
Molecule type Change Amino acid[Codon] SO Term
MIR324 transcript NR_029896.1:n. N/A Upstream Transcript Variant
Help

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: 98191 )
ClinVar Accession Disease Names Clinical Significance
RCV000669184.2 Very long chain acyl-CoA dehydrogenase deficiency Uncertain-Significance
RCV000723595.2 not provided Uncertain-Significance

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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 14050 T=0.99993 C=0.00007
European Sub 9690 T=1.0000 C=0.0000
African Sub 2898 T=0.9997 C=0.0003
African Others Sub 114 T=1.000 C=0.000
African American Sub 2784 T=0.9996 C=0.0004
Asian Sub 112 T=1.000 C=0.000
East Asian Sub 86 T=1.00 C=0.00
Other Asian Sub 26 T=1.00 C=0.00
Latin American 1 Sub 146 T=1.000 C=0.000
Latin American 2 Sub 610 T=1.000 C=0.000
South Asian Sub 98 T=1.00 C=0.00
Other Sub 496 T=1.000 C=0.000


Help

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").

Download
Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 T=0.999940 C=0.000060
gnomAD - Exomes Global Study-wide 213112 T=0.999991 C=0.000009
gnomAD - Exomes European Sub 111662 T=1.000000 C=0.000000
gnomAD - Exomes Asian Sub 43430 T=1.00000 C=0.00000
gnomAD - Exomes American Sub 30422 T=1.00000 C=0.00000
gnomAD - Exomes African Sub 12924 T=0.99985 C=0.00015
gnomAD - Exomes Ashkenazi Jewish Sub 9282 T=1.0000 C=0.0000
gnomAD - Exomes Other Sub 5392 T=1.0000 C=0.0000
gnomAD - Genomes Global Study-wide 130972 T=0.999908 C=0.000092
gnomAD - Genomes European Sub 72174 T=1.00000 C=0.00000
gnomAD - Genomes African Sub 38658 T=0.99969 C=0.00031
gnomAD - Genomes American Sub 11780 T=1.00000 C=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3266 T=1.0000 C=0.0000
gnomAD - Genomes East Asian Sub 3078 T=1.0000 C=0.0000
gnomAD - Genomes Other Sub 2016 T=1.0000 C=0.0000
ExAC Global Study-wide 39118 T=0.99992 C=0.00008
ExAC Europe Sub 20398 T=1.00000 C=0.00000
ExAC Asian Sub 12152 T=1.00000 C=0.00000
ExAC African Sub 4128 T=0.9993 C=0.0007
ExAC American Sub 2134 T=1.0000 C=0.0000
ExAC Other Sub 306 T=1.000 C=0.000
GO Exome Sequencing Project Global Study-wide 12948 T=0.99992 C=0.00008
GO Exome Sequencing Project European American Sub 8572 T=1.0000 C=0.0000
GO Exome Sequencing Project African American Sub 4376 T=0.9998 C=0.0002
1000Genomes Global Study-wide 5008 T=0.9998 C=0.0002
1000Genomes African Sub 1322 T=0.9992 C=0.0008
1000Genomes East Asian Sub 1008 T=1.0000 C=0.0000
1000Genomes Europe Sub 1006 T=1.0000 C=0.0000
1000Genomes South Asian Sub 978 T=1.000 C=0.000
1000Genomes American Sub 694 T=1.000 C=0.000
Help

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 T= C
GRCh38.p13 chr 17 NC_000017.11:g.7224696= NC_000017.11:g.7224696T>C
GRCh37.p13 chr 17 NC_000017.10:g.7128015= NC_000017.10:g.7128015T>C
DLG4 RefSeqGene NG_008391.2:g.355= NG_008391.2:g.355A>G
DVL2 RefSeqGene NG_033038.1:g.14849= NG_033038.1:g.14849A>G
ACADVL RefSeqGene NG_007975.1:g.9863= NG_007975.1:g.9863T>C
ACADVL transcript variant 1 NM_000018.4:c.1733= NM_000018.4:c.1733T>C
ACADVL transcript variant 1 NM_000018.3:c.1733= NM_000018.3:c.1733T>C
ACADVL transcript variant 2 NM_001033859.3:c.1667= NM_001033859.3:c.1667T>C
ACADVL transcript variant 2 NM_001033859.2:c.1667= NM_001033859.2:c.1667T>C
ACADVL transcript variant 4 NM_001270448.2:c.1505= NM_001270448.2:c.1505T>C
ACADVL transcript variant 4 NM_001270448.1:c.1505= NM_001270448.1:c.1505T>C
ACADVL transcript variant 3 NM_001270447.2:c.1802= NM_001270447.2:c.1802T>C
ACADVL transcript variant 3 NM_001270447.1:c.1802= NM_001270447.1:c.1802T>C
ACADVL transcript variant X5 XR_934021.2:n.1788= XR_934021.2:n.1788T>C
ACADVL transcript variant X6 XR_934022.2:n.1694= XR_934022.2:n.1694T>C
ACADVL transcript variant X4 XM_011523830.2:c.1631= XM_011523830.2:c.1631T>C
ACADVL transcript variant X2 XM_024450741.1:c.1721= XM_024450741.1:c.1721T>C
very long-chain specific acyl-CoA dehydrogenase, mitochondrial isoform 1 precursor NP_000009.1:p.Met578= NP_000009.1:p.Met578Thr
very long-chain specific acyl-CoA dehydrogenase, mitochondrial isoform 2 precursor NP_001029031.1:p.Met556= NP_001029031.1:p.Met556Thr
very long-chain specific acyl-CoA dehydrogenase, mitochondrial isoform 4 NP_001257377.1:p.Met502= NP_001257377.1:p.Met502Thr
very long-chain specific acyl-CoA dehydrogenase, mitochondrial isoform 3 NP_001257376.1:p.Met601= NP_001257376.1:p.Met601Thr
very long-chain specific acyl-CoA dehydrogenase, mitochondrial isoform X4 XP_011522132.1:p.Met544= XP_011522132.1:p.Met544Thr
very long-chain specific acyl-CoA dehydrogenase, mitochondrial isoform X2 XP_024306509.1:p.Met574= XP_024306509.1:p.Met574Thr
ACADVL transcript variant X1 XM_006721516.3:c.1679-19= XM_006721516.3:c.1679-19T>C
ACADVL transcript variant X3 XM_011523829.2:c.1577-19= XM_011523829.2:c.1577-19T>C
Help

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#.

11 SubSNP, 7 Frequency, 2 ClinVar submissions
No Submitter Submission ID Date (Build)
1 NHLBI-ESP ss713352628 Apr 25, 2013 (138)
2 EGL ss947846740 Jan 23, 2014 (138)
3 1000GENOMES ss1357800058 Aug 21, 2014 (142)
4 EVA_EXAC ss1692564078 Apr 01, 2015 (144)
5 TOPMED ss2380139111 Dec 20, 2016 (150)
6 GNOMAD ss2742386274 Nov 08, 2017 (151)
7 GNOMAD ss2749672835 Nov 08, 2017 (151)
8 GNOMAD ss2947395673 Nov 08, 2017 (151)
9 TOPMED ss3256594766 Nov 08, 2017 (151)
10 EVA ss3825070662 Apr 27, 2020 (154)
11 TOPMED ss5028551145 Apr 27, 2021 (155)
12 1000Genomes NC_000017.10 - 7128015 Oct 12, 2018 (152)
13 ExAC NC_000017.10 - 7128015 Oct 12, 2018 (152)
14 gnomAD - Genomes NC_000017.11 - 7224696 Apr 27, 2021 (155)
15 gnomAD - Exomes NC_000017.10 - 7128015 Jul 13, 2019 (153)
16 GO Exome Sequencing Project NC_000017.10 - 7128015 Oct 12, 2018 (152)
17 TopMed NC_000017.11 - 7224696 Apr 27, 2021 (155)
18 ALFA NC_000017.11 - 7224696 Apr 27, 2021 (155)
19 ClinVar RCV000669184.2 Apr 27, 2021 (155)
20 ClinVar RCV000723595.2 Jul 13, 2019 (153)
Help

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
71010241, 2990666, 11683795, 1527791, ss713352628, ss1357800058, ss1692564078, ss2380139111, ss2742386274, ss2749672835, ss2947395673, ss3825070662 NC_000017.10:7128014:T:C NC_000017.11:7224695:T:C (self)
RCV000669184.2, RCV000723595.2, 500716647, 152330934, 244096807, 13883021352, ss947846740, ss3256594766, ss5028551145 NC_000017.11:7224695:T:C NC_000017.11:7224695:T:C (self)
Help

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

1 citation for rs375806217
PMID Title Author Year Journal
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
Help

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