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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
chr1:75732869 (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.

Variation Type
SNV Single Nucleotide Variation
C=0.000015 (4/264690, TOPMED)
C=0.000024 (6/251094, GnomAD_exome)
C=0.000021 (3/140252, GnomAD) (+ 2 more)
C=0.000008 (1/120896, ExAC)
C=0.00003 (1/35910, ALFA)
Clinical Significance
Reported in ClinVar
Gene : Consequence
ACADM : Missense Variant
1 citation
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 1 NC_000001.11:g.75732869T>C
GRCh37.p13 chr 1 NC_000001.10:g.76198554T>C
ACADM RefSeqGene (LRG_838) NG_007045.2:g.13512T>C
Gene: ACADM, acyl-CoA dehydrogenase medium chain (plus strand)
Molecule type Change Amino acid[Codon] SO Term
ACADM transcript variant 6 NM_001286044.2:c.-153= N/A 5 Prime UTR Variant
ACADM transcript variant 1 NM_000016.6:c.233T>C I [ATT] > T [ACT] Coding Sequence Variant
medium-chain specific acyl-CoA dehydrogenase, mitochondrial isoform a precursor NP_000007.1:p.Ile78Thr I (Ile) > T (Thr) Missense Variant
ACADM transcript variant 5 NM_001286043.2:c.233T>C I [ATT] > T [ACT] Coding Sequence Variant
medium-chain specific acyl-CoA dehydrogenase, mitochondrial isoform d precursor NP_001272972.1:p.Ile78Thr I (Ile) > T (Thr) Missense Variant
ACADM transcript variant 3 NM_001127328.3:c.245T>C I [ATT] > T [ACT] Coding Sequence Variant
medium-chain specific acyl-CoA dehydrogenase, mitochondrial isoform b precursor NP_001120800.1:p.Ile82Thr I (Ile) > T (Thr) Missense Variant
ACADM transcript variant 4 NM_001286042.2:c.125T>C I [ATT] > T [ACT] Coding Sequence Variant
medium-chain specific acyl-CoA dehydrogenase, mitochondrial isoform c NP_001272971.1:p.Ile42Thr I (Ile) > T (Thr) Missense 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: 98172 )
ClinVar Accession Disease Names Clinical Significance
RCV000077885.7 not provided Pathogenic
RCV000178019.4 Medium-chain acyl-coenzyme A dehydrogenase deficiency Pathogenic

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 35910 T=0.99997 C=0.00003
European Sub 26588 T=0.99996 C=0.00004
African Sub 3344 T=1.0000 C=0.0000
African Others Sub 114 T=1.000 C=0.000
African American Sub 3230 T=1.0000 C=0.0000
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 500 T=1.000 C=0.000
Latin American 2 Sub 628 T=1.000 C=0.000
South Asian Sub 98 T=1.00 C=0.00
Other Sub 4640 T=1.0000 C=0.0000


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 T=0.999985 C=0.000015
gnomAD - Exomes Global Study-wide 251094 T=0.999976 C=0.000024
gnomAD - Exomes European Sub 135268 T=0.999956 C=0.000044
gnomAD - Exomes Asian Sub 49000 T=1.00000 C=0.00000
gnomAD - Exomes American Sub 34566 T=1.00000 C=0.00000
gnomAD - Exomes African Sub 16076 T=1.00000 C=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10078 T=1.00000 C=0.00000
gnomAD - Exomes Other Sub 6106 T=1.0000 C=0.0000
gnomAD - Genomes Global Study-wide 140252 T=0.999979 C=0.000021
gnomAD - Genomes European Sub 75932 T=0.99996 C=0.00004
gnomAD - Genomes African Sub 42062 T=1.00000 C=0.00000
gnomAD - Genomes American Sub 13650 T=1.00000 C=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3324 T=1.0000 C=0.0000
gnomAD - Genomes East Asian Sub 3132 T=1.0000 C=0.0000
gnomAD - Genomes Other Sub 2152 T=1.0000 C=0.0000
ExAC Global Study-wide 120896 T=0.999992 C=0.000008
ExAC Europe Sub 73210 T=0.99999 C=0.00001
ExAC Asian Sub 25160 T=1.00000 C=0.00000
ExAC American Sub 11568 T=1.00000 C=0.00000
ExAC African Sub 10052 T=1.00000 C=0.00000
ExAC Other Sub 906 T=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 T= C
GRCh38.p13 chr 1 NC_000001.11:g.75732869= NC_000001.11:g.75732869T>C
GRCh37.p13 chr 1 NC_000001.10:g.76198554= NC_000001.10:g.76198554T>C
ACADM RefSeqGene (LRG_838) NG_007045.2:g.13512= NG_007045.2:g.13512T>C
ACADM transcript variant 1 NM_000016.6:c.233= NM_000016.6:c.233T>C
ACADM transcript variant 1 NM_000016.5:c.233= NM_000016.5:c.233T>C
ACADM transcript variant 1 NM_000016.4:c.233= NM_000016.4:c.233T>C
ACADM transcript variant 3 NM_001127328.3:c.245= NM_001127328.3:c.245T>C
ACADM transcript variant 3 NM_001127328.2:c.245= NM_001127328.2:c.245T>C
ACADM transcript variant 3 NM_001127328.1:c.245= NM_001127328.1:c.245T>C
ACADM transcript variant 5 NM_001286043.2:c.233= NM_001286043.2:c.233T>C
ACADM transcript variant 5 NM_001286043.1:c.233= NM_001286043.1:c.233T>C
ACADM transcript variant 4 NM_001286042.2:c.125= NM_001286042.2:c.125T>C
ACADM transcript variant 4 NM_001286042.1:c.125= NM_001286042.1:c.125T>C
ACADM transcript variant 6 NM_001286044.2:c.-153= NM_001286044.2:c.-153T>C
ACADM transcript variant 6 NM_001286044.1:c.-153= NM_001286044.1:c.-153T>C
ACADM transcript variant 2 NR_022013.1:n.663= NR_022013.1:n.663T>C
medium-chain specific acyl-CoA dehydrogenase, mitochondrial isoform a precursor NP_000007.1:p.Ile78= NP_000007.1:p.Ile78Thr
medium-chain specific acyl-CoA dehydrogenase, mitochondrial isoform b precursor NP_001120800.1:p.Ile82= NP_001120800.1:p.Ile82Thr
medium-chain specific acyl-CoA dehydrogenase, mitochondrial isoform d precursor NP_001272972.1:p.Ile78= NP_001272972.1:p.Ile78Thr
medium-chain specific acyl-CoA dehydrogenase, mitochondrial isoform c NP_001272971.1:p.Ile42= NP_001272971.1:p.Ile42Thr

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, 2 ClinVar submissions
No Submitter Submission ID Date (Build)
1 EGL ss947846726 Jan 23, 2014 (138)
2 EVA_EXAC ss1685603816 Apr 01, 2015 (144)
3 GNOMAD ss2731584901 Nov 08, 2017 (151)
4 GNOMAD ss2746357624 Nov 08, 2017 (151)
5 GNOMAD ss2756773469 Nov 08, 2017 (151)
6 ILLUMINA ss3021100356 Nov 08, 2017 (151)
7 TOPMED ss3080387163 Nov 08, 2017 (151)
8 ILLUMINA ss3651428497 Oct 11, 2018 (152)
9 ILLUMINA ss3725036067 Jul 12, 2019 (153)
10 TOPMED ss4454846733 Apr 25, 2021 (155)
11 ExAC NC_000001.10 - 76198554 Oct 11, 2018 (152)
12 gnomAD - Genomes NC_000001.11 - 75732869 Apr 25, 2021 (155)
13 gnomAD - Exomes NC_000001.10 - 76198554 Jul 12, 2019 (153)
14 TopMed NC_000001.11 - 75732869 Apr 25, 2021 (155)
15 ALFA NC_000001.11 - 75732869 Apr 25, 2021 (155)
16 ClinVar RCV000077885.7 Apr 25, 2020 (154)
17 ClinVar RCV000178019.4 Apr 25, 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
4805266, 604827, ss1685603816, ss2731584901, ss2746357624, ss2756773469, ss3021100356, ss3651428497 NC_000001.10:76198553:T:C NC_000001.11:75732868:T:C (self)
RCV000077885.7, RCV000178019.4, 15551007, 11621941, 18453068, 11294705257, ss947846726, ss3080387163, ss3725036067, ss4454846733 NC_000001.11:75732868:T:C NC_000001.11:75732868:T:C (self)

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

1 citation for rs398123074
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

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