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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.

rs4705908

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr5:132011827 (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
G>A
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.345355 (91412/264690, TOPMED)
A=0.351391 (49194/139998, GnomAD)
A=0.35850 (6772/18890, ALFA) (+ 10 more)
A=0.2049 (1026/5008, 1000G)
A=0.3183 (1426/4480, Estonian)
A=0.4159 (1603/3854, ALSPAC)
A=0.4239 (1572/3708, TWINSUK)
A=0.0003 (1/2894, KOREAN)
A=0.352 (211/600, NorthernSweden)
A=0.236 (51/216, Qatari)
G=0.441 (60/136, SGDP_PRJ)
A=0.35 (14/40, GENOME_DK)
G=0.38 (10/26, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ACSL6 : Intron Variant
Publications
0 citations
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 5 NC_000005.10:g.132011827G>A
GRCh37.p13 chr 5 NC_000005.9:g.131347520G>A
ACSL6 RefSeqGene NG_028290.2:g.5242C>T
Gene: ACSL6, acyl-CoA synthetase long chain family member 6 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ACSL6 transcript variant 5 NM_001205250.1:c.7+87C>T N/A Intron Variant
ACSL6 transcript variant 2 NM_001009185.3:c. N/A Genic Upstream Transcript Variant
ACSL6 transcript variant 3 NM_001205247.2:c. N/A Genic Upstream Transcript Variant
ACSL6 transcript variant 4 NM_001205248.2:c. N/A Genic Upstream Transcript Variant
ACSL6 transcript variant 6 NM_001205251.2:c. N/A Genic Upstream Transcript Variant
ACSL6 transcript variant 1 NM_015256.4:c. N/A Genic 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.

Not Reported in ClinVar

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 18890 G=0.64150 A=0.35850
European Sub 14286 G=0.61998 A=0.38002
African Sub 2946 G=0.6935 A=0.3065
African Others Sub 114 G=0.702 A=0.298
African American Sub 2832 G=0.6931 A=0.3069
Asian Sub 112 G=1.000 A=0.000
East Asian Sub 86 G=1.00 A=0.00
Other Asian Sub 26 G=1.00 A=0.00
Latin American 1 Sub 146 G=0.637 A=0.363
Latin American 2 Sub 610 G=0.754 A=0.246
South Asian Sub 98 G=0.96 A=0.04
Other Sub 692 G=0.663 A=0.337


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").

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Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 G=0.654645 A=0.345355
gnomAD - Genomes Global Study-wide 139998 G=0.648609 A=0.351391
gnomAD - Genomes European Sub 75788 G=0.60806 A=0.39194
gnomAD - Genomes African Sub 41960 G=0.67989 A=0.32011
gnomAD - Genomes American Sub 13646 G=0.68540 A=0.31460
gnomAD - Genomes Ashkenazi Jewish Sub 3322 G=0.7059 A=0.2941
gnomAD - Genomes East Asian Sub 3134 G=0.9978 A=0.0022
gnomAD - Genomes Other Sub 2148 G=0.6364 A=0.3636
1000Genomes Global Study-wide 5008 G=0.7951 A=0.2049
1000Genomes African Sub 1322 G=0.7284 A=0.2716
1000Genomes East Asian Sub 1008 G=0.9980 A=0.0020
1000Genomes Europe Sub 1006 G=0.6153 A=0.3847
1000Genomes South Asian Sub 978 G=0.911 A=0.089
1000Genomes American Sub 694 G=0.725 A=0.275
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.6817 A=0.3183
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.5841 A=0.4159
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.5761 A=0.4239
KOREAN population from KRGDB KOREAN Study-wide 2894 G=0.9997 A=0.0003
Northern Sweden ACPOP Study-wide 600 G=0.648 A=0.352
Qatari Global Study-wide 216 G=0.764 A=0.236
SGDP_PRJ Global Study-wide 136 G=0.441 A=0.559
The Danish reference pan genome Danish Study-wide 40 G=0.65 A=0.35
Siberian Global Study-wide 26 G=0.38 A=0.62
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.p13 chr 5 NC_000005.10:g.132011827= NC_000005.10:g.132011827G>A
GRCh37.p13 chr 5 NC_000005.9:g.131347520= NC_000005.9:g.131347520G>A
ACSL6 RefSeqGene NG_028290.2:g.5242= NG_028290.2:g.5242C>T
ACSL6 transcript variant 4 NM_001205248.1:c.-84= NM_001205248.1:c.-84C>T
ACSL6 transcript variant 6 NM_001205251.1:c.-84= NM_001205251.1:c.-84C>T
ACSL6 transcript variant 5 NM_001205250.1:c.7+87= NM_001205250.1:c.7+87C>T
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#.

44 SubSNP, 13 Frequency submissions
No Submitter Submission ID Date (Build)
1 WI_SSAHASNP ss6483378 Feb 20, 2003 (111)
2 ABI ss44644828 Mar 14, 2006 (126)
3 KRIBB_YJKIM ss65832521 Nov 29, 2006 (127)
4 HUMANGENOME_JCVI ss98765604 Feb 05, 2009 (130)
5 COMPLETE_GENOMICS ss162670229 Jul 04, 2010 (132)
6 BUSHMAN ss200874000 Jul 04, 2010 (132)
7 1000GENOMES ss221969250 Jul 14, 2010 (132)
8 1000GENOMES ss233152038 Jul 14, 2010 (132)
9 PJP ss293461772 May 09, 2011 (134)
10 SSMP ss652616485 Apr 25, 2013 (138)
11 EVA-GONL ss982130193 Aug 21, 2014 (142)
12 JMKIDD_LAB ss1073047301 Aug 21, 2014 (142)
13 1000GENOMES ss1317238411 Aug 21, 2014 (142)
14 DDI ss1430505199 Apr 01, 2015 (144)
15 EVA_GENOME_DK ss1581353987 Apr 01, 2015 (144)
16 EVA_DECODE ss1591656870 Apr 01, 2015 (144)
17 EVA_UK10K_ALSPAC ss1614021967 Apr 01, 2015 (144)
18 EVA_UK10K_TWINSUK ss1657016000 Apr 01, 2015 (144)
19 WEILL_CORNELL_DGM ss1925387742 Feb 12, 2016 (147)
20 JJLAB ss2023299401 Sep 14, 2016 (149)
21 USC_VALOUEV ss2151454892 Dec 20, 2016 (150)
22 HUMAN_LONGEVITY ss2278195226 Dec 20, 2016 (150)
23 TOPMED ss2446504546 Dec 20, 2016 (150)
24 GNOMAD ss2830828211 Nov 08, 2017 (151)
25 SWEGEN ss2997800584 Nov 08, 2017 (151)
26 BIOINF_KMB_FNS_UNIBA ss3025432264 Nov 08, 2017 (151)
27 CSHL ss3346631438 Nov 08, 2017 (151)
28 TOPMED ss3478801862 Nov 08, 2017 (151)
29 URBANLAB ss3648171123 Oct 12, 2018 (152)
30 EGCUT_WGS ss3665713921 Jul 13, 2019 (153)
31 EVA_DECODE ss3715711258 Jul 13, 2019 (153)
32 ACPOP ss3732822584 Jul 13, 2019 (153)
33 EVA ss3764067128 Jul 13, 2019 (153)
34 KHV_HUMAN_GENOMES ss3807243110 Jul 13, 2019 (153)
35 EVA ss3825679505 Apr 26, 2020 (154)
36 EVA ss3829507909 Apr 26, 2020 (154)
37 EVA ss3838228434 Apr 26, 2020 (154)
38 EVA ss3843670996 Apr 26, 2020 (154)
39 SGDP_PRJ ss3862989811 Apr 26, 2020 (154)
40 KRGDB ss3909626459 Apr 26, 2020 (154)
41 FSA-LAB ss3984315118 Apr 26, 2021 (155)
42 EVA ss3986317993 Apr 26, 2021 (155)
43 TOPMED ss4678890677 Apr 26, 2021 (155)
44 EVA ss5237186997 Apr 26, 2021 (155)
45 1000Genomes NC_000005.9 - 131347520 Oct 12, 2018 (152)
46 The Avon Longitudinal Study of Parents and Children NC_000005.9 - 131347520 Oct 12, 2018 (152)
47 Genetic variation in the Estonian population NC_000005.9 - 131347520 Oct 12, 2018 (152)
48 The Danish reference pan genome NC_000005.9 - 131347520 Apr 26, 2020 (154)
49 gnomAD - Genomes NC_000005.10 - 132011827 Apr 26, 2021 (155)
50 KOREAN population from KRGDB NC_000005.9 - 131347520 Apr 26, 2020 (154)
51 Northern Sweden NC_000005.9 - 131347520 Jul 13, 2019 (153)
52 Qatari NC_000005.9 - 131347520 Apr 26, 2020 (154)
53 SGDP_PRJ NC_000005.9 - 131347520 Apr 26, 2020 (154)
54 Siberian NC_000005.9 - 131347520 Apr 26, 2020 (154)
55 TopMed NC_000005.10 - 132011827 Apr 26, 2021 (155)
56 UK 10K study - Twins NC_000005.9 - 131347520 Oct 12, 2018 (152)
57 ALFA NC_000005.10 - 132011827 Apr 26, 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
ss162670229, ss200874000, ss293461772, ss1591656870 NC_000005.8:131375418:G:A NC_000005.10:132011826:G:A (self)
28917809, 16082679, 11452169, 7518926, 16803853, 6107449, 7429672, 15006791, 3971246, 16082679, ss221969250, ss233152038, ss652616485, ss982130193, ss1073047301, ss1317238411, ss1430505199, ss1581353987, ss1614021967, ss1657016000, ss1925387742, ss2023299401, ss2151454892, ss2446504546, ss2830828211, ss2997800584, ss3346631438, ss3665713921, ss3732822584, ss3764067128, ss3825679505, ss3829507909, ss3838228434, ss3862989811, ss3909626459, ss3984315118, ss3986317993 NC_000005.9:131347519:G:A NC_000005.10:132011826:G:A (self)
204521414, 322830010, 516268234, 11682904055, ss2278195226, ss3025432264, ss3478801862, ss3648171123, ss3715711258, ss3807243110, ss3843670996, ss4678890677, ss5237186997 NC_000005.10:132011826:G:A NC_000005.10:132011826:G:A (self)
ss6483378, ss44644828, ss65832521, ss98765604 NT_034772.6:39661391:G:A NC_000005.10:132011826: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 rs4705908

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