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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs141752584

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:153778836 (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
G>A
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.000121 (32/264690, TOPMED)
A=0.000179 (45/251456, GnomAD_exome)
A=0.000151 (30/199286, ALFA) (+ 6 more)
A=0.000121 (17/140256, GnomAD)
A=0.000198 (24/121360, ExAC)
A=0.00006 (5/78698, PAGE_STUDY)
A=0.00023 (3/13006, GO-ESP)
A=0.0006 (4/6404, 1000G_30x)
A=0.0008 (4/5008, 1000G)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
SLC27A3 : Missense 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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 199408 G=0.999850 A=0.000150
European Sub 170048 G=0.999847 A=0.000153
African Sub 4968 G=1.0000 A=0.0000
African Others Sub 176 G=1.000 A=0.000
African American Sub 4792 G=1.0000 A=0.0000
Asian Sub 6350 G=0.9997 A=0.0003
East Asian Sub 4502 G=0.9996 A=0.0004
Other Asian Sub 1848 G=1.0000 A=0.0000
Latin American 1 Sub 796 G=1.000 A=0.000
Latin American 2 Sub 968 G=0.999 A=0.001
South Asian Sub 280 G=1.000 A=0.000
Other Sub 15998 G=0.99994 A=0.00006


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 G=0.999879 A=0.000121
gnomAD - Exomes Global Study-wide 251456 G=0.999821 A=0.000179
gnomAD - Exomes European Sub 135400 G=0.999771 A=0.000229
gnomAD - Exomes Asian Sub 49010 G=0.99998 A=0.00002
gnomAD - Exomes American Sub 34574 G=0.99968 A=0.00032
gnomAD - Exomes African Sub 16256 G=0.99994 A=0.00006
gnomAD - Exomes Ashkenazi Jewish Sub 10078 G=1.00000 A=0.00000
gnomAD - Exomes Other Sub 6138 G=0.9998 A=0.0002
Allele Frequency Aggregator Total Global 199286 G=0.999849 A=0.000151
Allele Frequency Aggregator European Sub 169944 G=0.999847 A=0.000153
Allele Frequency Aggregator Other Sub 15994 G=0.99994 A=0.00006
Allele Frequency Aggregator Asian Sub 6350 G=0.9997 A=0.0003
Allele Frequency Aggregator African Sub 4954 G=1.0000 A=0.0000
Allele Frequency Aggregator Latin American 2 Sub 968 G=0.999 A=0.001
Allele Frequency Aggregator Latin American 1 Sub 796 G=1.000 A=0.000
Allele Frequency Aggregator South Asian Sub 280 G=1.000 A=0.000
gnomAD - Genomes Global Study-wide 140256 G=0.999879 A=0.000121
gnomAD - Genomes European Sub 75956 G=0.99986 A=0.00014
gnomAD - Genomes African Sub 42028 G=0.99993 A=0.00007
gnomAD - Genomes American Sub 13662 G=0.99985 A=0.00015
gnomAD - Genomes Ashkenazi Jewish Sub 3324 G=1.0000 A=0.0000
gnomAD - Genomes East Asian Sub 3132 G=1.0000 A=0.0000
gnomAD - Genomes Other Sub 2154 G=0.9995 A=0.0005
ExAC Global Study-wide 121360 G=0.999802 A=0.000198
ExAC Europe Sub 73326 G=0.99974 A=0.00026
ExAC Asian Sub 25164 G=0.99996 A=0.00004
ExAC American Sub 11564 G=0.99965 A=0.00035
ExAC African Sub 10402 G=1.00000 A=0.00000
ExAC Other Sub 904 G=1.000 A=0.000
The PAGE Study Global Study-wide 78698 G=0.99994 A=0.00006
The PAGE Study AfricanAmerican Sub 32516 G=1.00000 A=0.00000
The PAGE Study Mexican Sub 10810 G=0.99981 A=0.00019
The PAGE Study Asian Sub 8318 G=1.0000 A=0.0000
The PAGE Study PuertoRican Sub 7916 G=1.0000 A=0.0000
The PAGE Study NativeHawaiian Sub 4534 G=1.0000 A=0.0000
The PAGE Study Cuban Sub 4228 G=0.9998 A=0.0002
The PAGE Study Dominican Sub 3828 G=1.0000 A=0.0000
The PAGE Study CentralAmerican Sub 2450 G=0.9996 A=0.0004
The PAGE Study SouthAmerican Sub 1982 G=1.0000 A=0.0000
The PAGE Study NativeAmerican Sub 1260 G=0.9992 A=0.0008
The PAGE Study SouthAsian Sub 856 G=1.000 A=0.000
GO Exome Sequencing Project Global Study-wide 13006 G=0.99977 A=0.00023
GO Exome Sequencing Project European American Sub 8600 G=0.9997 A=0.0003
GO Exome Sequencing Project African American Sub 4406 G=1.0000 A=0.0000
1000Genomes_30x Global Study-wide 6404 G=0.9994 A=0.0006
1000Genomes_30x African Sub 1786 G=1.0000 A=0.0000
1000Genomes_30x Europe Sub 1266 G=0.9984 A=0.0016
1000Genomes_30x South Asian Sub 1202 G=1.0000 A=0.0000
1000Genomes_30x East Asian Sub 1170 G=0.9991 A=0.0009
1000Genomes_30x American Sub 980 G=0.999 A=0.001
1000Genomes Global Study-wide 5008 G=0.9992 A=0.0008
1000Genomes African Sub 1322 G=1.0000 A=0.0000
1000Genomes East Asian Sub 1008 G=0.9990 A=0.0010
1000Genomes Europe Sub 1006 G=0.9980 A=0.0020
1000Genomes South Asian Sub 978 G=1.000 A=0.000
1000Genomes American Sub 694 G=0.999 A=0.001
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.p14 chr 1 NC_000001.11:g.153778836G>A
GRCh37.p13 chr 1 NC_000001.10:g.153751312G>A
SLC27A3 RefSeqGene NG_053029.1:g.8545G>A
GRCh38.p14 chr 1 alt locus HSCHR1_1_CTG31 NW_003315905.1:g.95537G>A
Gene: SLC27A3, solute carrier family 27 member 3 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
SLC27A3 transcript variant 1 NM_024330.4:c.1597G>A D [GAT] > N [AAT] Coding Sequence Variant
long-chain fatty acid transport protein 3 isoform 1 NP_077306.3:p.Asp533Asn D (Asp) > N (Asn) Missense Variant
SLC27A3 transcript variant 2 NM_001317929.4:c.1597G>A D [GAT] > N [AAT] Coding Sequence Variant
long-chain fatty acid transport protein 3 isoform 2 NP_001304858.3:p.Asp533Asn D (Asp) > N (Asn) Missense Variant
SLC27A3 transcript variant 3 NR_145826.3:n.1563G>A N/A Non Coding 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.

Not Reported in ClinVar
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 G= A
GRCh38.p14 chr 1 NC_000001.11:g.153778836= NC_000001.11:g.153778836G>A
GRCh37.p13 chr 1 NC_000001.10:g.153751312= NC_000001.10:g.153751312G>A
SLC27A3 RefSeqGene NG_053029.1:g.8545= NG_053029.1:g.8545G>A
SLC27A3 transcript variant 1 NM_024330.4:c.1597= NM_024330.4:c.1597G>A
SLC27A3 transcript variant 1 NM_024330.3:c.1597= NM_024330.3:c.1597G>A
SLC27A3 transcript variant 1 NM_024330.2:c.1981= NM_024330.2:c.1981G>A
SLC27A3 transcript variant 1 NM_024330.1:c.1738= NM_024330.1:c.1738G>A
SLC27A3 transcript variant 2 NM_001317929.4:c.1597= NM_001317929.4:c.1597G>A
SLC27A3 transcript variant 2 NM_001317929.3:c.1597= NM_001317929.3:c.1597G>A
SLC27A3 transcript variant 2 NM_001317929.2:c.1981= NM_001317929.2:c.1981G>A
SLC27A3 transcript variant 2 NM_001317929.1:c.1738= NM_001317929.1:c.1738G>A
SLC27A3 transcript variant 3 NR_145826.3:n.1563= NR_145826.3:n.1563G>A
SLC27A3 transcript variant 3 NR_145826.2:n.1563= NR_145826.2:n.1563G>A
SLC27A3 transcript variant 3 NR_145826.1:n.2616= NR_145826.1:n.2616G>A
GRCh38.p14 chr 1 alt locus HSCHR1_1_CTG31 NW_003315905.1:g.95537= NW_003315905.1:g.95537G>A
long-chain fatty acid transport protein 3 isoform 1 NP_077306.3:p.Asp533= NP_077306.3:p.Asp533Asn
long-chain fatty acid transport protein 3 isoform 2 NP_001304858.3:p.Asp533= NP_001304858.3:p.Asp533Asn
long-chain fatty acid transport protein 3 isoform 1 NP_077306.1:p.Asp580= NP_077306.1:p.Asp580Asn
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#.

41 SubSNP, 9 Frequency submissions
No Submitter Submission ID Date (Build)
1 NHLBI-ESP ss341995921 May 09, 2011 (134)
2 1000GENOMES ss454386854 Sep 17, 2011 (135)
3 1000GENOMES ss489766108 May 04, 2012 (137)
4 EXOME_CHIP ss491302106 May 04, 2012 (137)
5 ILLUMINA ss780691761 Sep 08, 2015 (146)
6 ILLUMINA ss783365532 Sep 08, 2015 (146)
7 1000GENOMES ss1292905567 Aug 21, 2014 (142)
8 EVA_EXAC ss1685796009 Apr 01, 2015 (144)
9 ILLUMINA ss1751871791 Sep 08, 2015 (146)
10 ILLUMINA ss1917735134 Feb 12, 2016 (147)
11 ILLUMINA ss1946009264 Feb 12, 2016 (147)
12 ILLUMINA ss1958316885 Feb 12, 2016 (147)
13 HUMAN_LONGEVITY ss2166497342 Dec 20, 2016 (150)
14 GNOMAD ss2731878234 Nov 08, 2017 (151)
15 GNOMAD ss2746446924 Nov 08, 2017 (151)
16 GNOMAD ss2761252307 Nov 08, 2017 (151)
17 AFFY ss2984878998 Nov 08, 2017 (151)
18 ILLUMINA ss3021135543 Nov 08, 2017 (151)
19 ILLUMINA ss3626207197 Oct 11, 2018 (152)
20 ILLUMINA ss3634349504 Oct 11, 2018 (152)
21 ILLUMINA ss3640056861 Oct 11, 2018 (152)
22 ILLUMINA ss3644505219 Oct 11, 2018 (152)
23 ILLUMINA ss3651469707 Oct 11, 2018 (152)
24 ILLUMINA ss3653648181 Oct 11, 2018 (152)
25 ILLUMINA ss3725064734 Jul 12, 2019 (153)
26 ILLUMINA ss3744352362 Jul 12, 2019 (153)
27 ILLUMINA ss3744650414 Jul 12, 2019 (153)
28 EVA ss3746802342 Jul 12, 2019 (153)
29 PAGE_CC ss3770840393 Jul 12, 2019 (153)
30 ILLUMINA ss3772151555 Jul 12, 2019 (153)
31 EVA ss3823661126 Apr 25, 2020 (154)
32 EVA ss3825575450 Apr 25, 2020 (154)
33 TOPMED ss4468110357 Apr 25, 2021 (155)
34 1000G_HIGH_COVERAGE ss5244274786 Oct 12, 2022 (156)
35 EVA ss5322016673 Oct 12, 2022 (156)
36 HUGCELL_USP ss5444870071 Oct 12, 2022 (156)
37 1000G_HIGH_COVERAGE ss5517594261 Oct 12, 2022 (156)
38 SANFORD_IMAGENETICS ss5626582201 Oct 12, 2022 (156)
39 EVA ss5847556049 Oct 12, 2022 (156)
40 EVA ss5910225674 Oct 12, 2022 (156)
41 EVA ss5938375714 Oct 12, 2022 (156)
42 1000Genomes NC_000001.10 - 153751312 Oct 11, 2018 (152)
43 1000Genomes_30x NC_000001.11 - 153778836 Oct 12, 2022 (156)
44 ExAC NC_000001.10 - 153751312 Oct 11, 2018 (152)
45 gnomAD - Genomes NC_000001.11 - 153778836 Apr 25, 2021 (155)
46 gnomAD - Exomes NC_000001.10 - 153751312 Jul 12, 2019 (153)
47 GO Exome Sequencing Project NC_000001.10 - 153751312 Oct 11, 2018 (152)
48 The PAGE Study NC_000001.11 - 153778836 Jul 12, 2019 (153)
49 TopMed NC_000001.11 - 153778836 Apr 25, 2021 (155)
50 ALFA NC_000001.11 - 153778836 Apr 25, 2021 (155)
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
3696794, 5013913, 899947, 119726, ss341995921, ss454386854, ss489766108, ss491302106, ss780691761, ss783365532, ss1292905567, ss1685796009, ss1751871791, ss1917735134, ss1946009264, ss1958316885, ss2731878234, ss2746446924, ss2761252307, ss2984878998, ss3021135543, ss3626207197, ss3634349504, ss3640056861, ss3644505219, ss3651469707, ss3653648181, ss3744352362, ss3744650414, ss3746802342, ss3772151555, ss3823661126, ss3825575450, ss5322016673, ss5626582201, ss5847556049, ss5938375714 NC_000001.10:153751311:G:A NC_000001.11:153778835:G:A (self)
5120196, 26886116, 61862, 31716692, 2282637907, ss2166497342, ss3725064734, ss3770840393, ss4468110357, ss5244274786, ss5444870071, ss5517594261, ss5910225674 NC_000001.11:153778835:G:A NC_000001.11:153778835:G:A (self)
Help

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

No publications for rs141752584

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.post774+babeb33