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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.

rs7137120

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr12:7303001 (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
A>C / A>G / A>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.176520 (46723/264690, TOPMED)
A=0.170207 (23832/140018, GnomAD)
A=0.16261 (9725/59806, ALFA) (+ 17 more)
A=0.09176 (2593/28258, 14KJPN)
A=0.09308 (1560/16760, 8.3KJPN)
A=0.1836 (1176/6404, 1000G_30x)
A=0.1829 (916/5008, 1000G)
A=0.1234 (553/4480, Estonian)
A=0.1466 (565/3854, ALSPAC)
A=0.1446 (536/3708, TWINSUK)
A=0.1192 (349/2928, KOREAN)
A=0.1796 (339/1888, HapMap)
A=0.1075 (197/1832, Korea1K)
A=0.161 (161/998, GoNL)
A=0.097 (58/600, NorthernSweden)
A=0.136 (72/528, SGDP_PRJ)
A=0.333 (72/216, Qatari)
A=0.071 (15/210, Vietnamese)
A=0.16 (9/56, Siberian)
A=0.15 (6/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ACSM4 : 2KB Upstream Variant
Publications
2 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: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 59900 A=0.16252 G=0.83748 0.026978 0.701937 0.271085 0
European Sub 41684 A=0.15097 G=0.84903 0.022934 0.720996 0.256069 0
African Sub 5612 A=0.1940 G=0.8060 0.034925 0.646828 0.318247 1
African Others Sub 192 A=0.177 G=0.823 0.020833 0.666667 0.3125 0
African American Sub 5420 A=0.1946 G=0.8054 0.035424 0.646125 0.31845 0
Asian Sub 486 A=0.078 G=0.922 0.004115 0.847737 0.148148 0
East Asian Sub 388 A=0.077 G=0.923 0.0 0.845361 0.154639 1
Other Asian Sub 98 A=0.08 G=0.92 0.020408 0.857143 0.122449 1
Latin American 1 Sub 720 A=0.219 G=0.781 0.044444 0.605556 0.35 0
Latin American 2 Sub 7058 A=0.2036 G=0.7964 0.042505 0.635307 0.322188 0
South Asian Sub 174 A=0.310 G=0.690 0.091954 0.471264 0.436782 0
Other Sub 4166 A=0.1599 G=0.8401 0.027364 0.707633 0.265002 0


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 A=0.176520 G=0.823480
gnomAD - Genomes Global Study-wide 140018 A=0.170207 G=0.829793
gnomAD - Genomes European Sub 75862 A=0.15414 G=0.84586
gnomAD - Genomes African Sub 41928 A=0.20104 G=0.79896
gnomAD - Genomes American Sub 13636 A=0.18480 G=0.81520
gnomAD - Genomes Ashkenazi Jewish Sub 3320 A=0.1639 G=0.8361
gnomAD - Genomes East Asian Sub 3122 A=0.0903 G=0.9097
gnomAD - Genomes Other Sub 2150 A=0.1693 G=0.8307
Allele Frequency Aggregator Total Global 59806 A=0.16261 G=0.83739
Allele Frequency Aggregator European Sub 41608 A=0.15105 G=0.84895
Allele Frequency Aggregator Latin American 2 Sub 7058 A=0.2036 G=0.7964
Allele Frequency Aggregator African Sub 5612 A=0.1940 G=0.8060
Allele Frequency Aggregator Other Sub 4148 A=0.1601 G=0.8399
Allele Frequency Aggregator Latin American 1 Sub 720 A=0.219 G=0.781
Allele Frequency Aggregator Asian Sub 486 A=0.078 G=0.922
Allele Frequency Aggregator South Asian Sub 174 A=0.310 G=0.690
14KJPN JAPANESE Study-wide 28258 A=0.09176 G=0.90824
8.3KJPN JAPANESE Study-wide 16760 A=0.09308 G=0.90692
1000Genomes_30x Global Study-wide 6404 A=0.1836 G=0.8164
1000Genomes_30x African Sub 1786 A=0.1993 G=0.8007
1000Genomes_30x Europe Sub 1266 A=0.1611 G=0.8389
1000Genomes_30x South Asian Sub 1202 A=0.3012 G=0.6988
1000Genomes_30x East Asian Sub 1170 A=0.0726 G=0.9274
1000Genomes_30x American Sub 980 A=0.172 G=0.828
1000Genomes Global Study-wide 5008 A=0.1829 G=0.8171
1000Genomes African Sub 1322 A=0.2110 G=0.7890
1000Genomes East Asian Sub 1008 A=0.0704 G=0.9296
1000Genomes Europe Sub 1006 A=0.1581 G=0.8419
1000Genomes South Asian Sub 978 A=0.293 G=0.707
1000Genomes American Sub 694 A=0.173 G=0.827
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.1234 G=0.8766
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.1466 G=0.8534
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.1446 G=0.8554
KOREAN population from KRGDB KOREAN Study-wide 2928 A=0.1192 C=0.0000, G=0.8808, T=0.0000
HapMap Global Study-wide 1888 A=0.1796 G=0.8204
HapMap American Sub 770 A=0.164 G=0.836
HapMap African Sub 690 A=0.236 G=0.764
HapMap Asian Sub 254 A=0.102 G=0.898
HapMap Europe Sub 174 A=0.138 G=0.862
Korean Genome Project KOREAN Study-wide 1832 A=0.1075 G=0.8925
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.161 G=0.839
Northern Sweden ACPOP Study-wide 600 A=0.097 G=0.903
SGDP_PRJ Global Study-wide 528 A=0.136 G=0.864
Qatari Global Study-wide 216 A=0.333 G=0.667
A Vietnamese Genetic Variation Database Global Study-wide 210 A=0.071 G=0.929
Siberian Global Study-wide 56 A=0.16 G=0.84
The Danish reference pan genome Danish Study-wide 40 A=0.15 G=0.85
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 12 NC_000012.12:g.7303001A>C
GRCh38.p14 chr 12 NC_000012.12:g.7303001A>G
GRCh38.p14 chr 12 NC_000012.12:g.7303001A>T
GRCh37.p13 chr 12 NC_000012.11:g.7455597A>C
GRCh37.p13 chr 12 NC_000012.11:g.7455597A>G
GRCh37.p13 chr 12 NC_000012.11:g.7455597A>T
Gene: ACSM4, acyl-CoA synthetase medium chain family member 4 (plus strand) : 2KB Upstream Variant
Molecule type Change Amino acid[Codon] SO Term
ACSM4 transcript NM_001080454.2:c. 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.

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 A= C G T
GRCh38.p14 chr 12 NC_000012.12:g.7303001= NC_000012.12:g.7303001A>C NC_000012.12:g.7303001A>G NC_000012.12:g.7303001A>T
GRCh37.p13 chr 12 NC_000012.11:g.7455597= NC_000012.11:g.7455597A>C NC_000012.11:g.7455597A>G NC_000012.11:g.7455597A>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#.

86 SubSNP, 20 Frequency submissions
No Submitter Submission ID Date (Build)
1 BCM_SSAHASNP ss10716177 Jul 11, 2003 (116)
2 WI_SSAHASNP ss14422134 Dec 05, 2003 (119)
3 SC_SNP ss15922305 Feb 27, 2004 (120)
4 SSAHASNP ss20905698 Apr 05, 2004 (121)
5 PERLEGEN ss24427801 Sep 20, 2004 (123)
6 AFFY ss66419522 Nov 30, 2006 (127)
7 AFFY ss76183877 Dec 06, 2007 (129)
8 KRIBB_YJKIM ss82391192 Dec 15, 2007 (130)
9 HGSV ss83748928 Dec 14, 2007 (130)
10 BCMHGSC_JDW ss88941406 Mar 24, 2008 (129)
11 HUMANGENOME_JCVI ss97202673 Feb 04, 2009 (130)
12 BGI ss106784588 Feb 04, 2009 (130)
13 1000GENOMES ss111435053 Jan 25, 2009 (130)
14 1000GENOMES ss113124764 Jan 25, 2009 (130)
15 ILLUMINA-UK ss118548527 Feb 14, 2009 (130)
16 ENSEMBL ss132979815 Dec 01, 2009 (131)
17 ENSEMBL ss137393663 Dec 01, 2009 (131)
18 GMI ss157065916 Dec 01, 2009 (131)
19 ILLUMINA ss160851385 Dec 01, 2009 (131)
20 COMPLETE_GENOMICS ss167730172 Jul 04, 2010 (132)
21 COMPLETE_GENOMICS ss168978879 Jul 04, 2010 (132)
22 COMPLETE_GENOMICS ss170338915 Jul 04, 2010 (132)
23 AFFY ss172738365 Jul 04, 2010 (132)
24 BUSHMAN ss203507631 Jul 04, 2010 (132)
25 BCM-HGSC-SUB ss208117681 Jul 04, 2010 (132)
26 1000GENOMES ss225591385 Jul 14, 2010 (132)
27 1000GENOMES ss235811738 Jul 15, 2010 (132)
28 1000GENOMES ss242392942 Jul 15, 2010 (132)
29 GMI ss281260174 May 04, 2012 (137)
30 GMI ss286499597 Apr 25, 2013 (138)
31 PJP ss291316366 May 09, 2011 (134)
32 ILLUMINA ss482483679 Sep 08, 2015 (146)
33 TISHKOFF ss562976169 Apr 25, 2013 (138)
34 SSMP ss658502548 Apr 25, 2013 (138)
35 EVA-GONL ss989207267 Aug 21, 2014 (142)
36 JMKIDD_LAB ss1078225754 Aug 21, 2014 (142)
37 1000GENOMES ss1388037647 Apr 01, 2015 (144)
38 DDI ss1426832958 Apr 01, 2015 (144)
39 EVA_GENOME_DK ss1576095600 Apr 01, 2015 (144)
40 EVA_DECODE ss1598878749 Apr 01, 2015 (144)
41 EVA_UK10K_ALSPAC ss1627962419 Apr 01, 2015 (144)
42 EVA_UK10K_TWINSUK ss1670956452 Apr 01, 2015 (144)
43 EVA_SVP ss1713304877 Apr 01, 2015 (144)
44 HAMMER_LAB ss1807105516 Sep 08, 2015 (146)
45 WEILL_CORNELL_DGM ss1932569370 Feb 12, 2016 (147)
46 GENOMED ss1967515038 Jul 19, 2016 (147)
47 JJLAB ss2027031068 Sep 14, 2016 (149)
48 USC_VALOUEV ss2155351752 Dec 20, 2016 (150)
49 HUMAN_LONGEVITY ss2187589392 Dec 20, 2016 (150)
50 SYSTEMSBIOZJU ss2627992877 Nov 08, 2017 (151)
51 GRF ss2699673055 Nov 08, 2017 (151)
52 GNOMAD ss2907019398 Nov 08, 2017 (151)
53 AFFY ss2984966739 Nov 08, 2017 (151)
54 AFFY ss2985609765 Nov 08, 2017 (151)
55 SWEGEN ss3009152692 Nov 08, 2017 (151)
56 BIOINF_KMB_FNS_UNIBA ss3027319552 Nov 08, 2017 (151)
57 CSHL ss3349906682 Nov 08, 2017 (151)
58 ILLUMINA ss3636173519 Oct 12, 2018 (152)
59 URBANLAB ss3649756463 Oct 12, 2018 (152)
60 ILLUMINA ss3653739040 Oct 12, 2018 (152)
61 EGCUT_WGS ss3676484239 Jul 13, 2019 (153)
62 EVA_DECODE ss3693055990 Jul 13, 2019 (153)
63 ACPOP ss3738743365 Jul 13, 2019 (153)
64 EVA ss3750106173 Jul 13, 2019 (153)
65 PACBIO ss3787132087 Jul 13, 2019 (153)
66 PACBIO ss3792247502 Jul 13, 2019 (153)
67 PACBIO ss3797130329 Jul 13, 2019 (153)
68 KHV_HUMAN_GENOMES ss3815421083 Jul 13, 2019 (153)
69 EVA ss3832958583 Apr 26, 2020 (154)
70 EVA ss3840042632 Apr 26, 2020 (154)
71 EVA ss3845525268 Apr 26, 2020 (154)
72 SGDP_PRJ ss3877624482 Apr 26, 2020 (154)
73 KRGDB ss3926128076 Apr 26, 2020 (154)
74 KOGIC ss3971223676 Apr 26, 2020 (154)
75 TOPMED ss4907756031 Apr 26, 2021 (155)
76 TOMMO_GENOMICS ss5204929873 Apr 26, 2021 (155)
77 1000G_HIGH_COVERAGE ss5289704669 Oct 16, 2022 (156)
78 HUGCELL_USP ss5484608914 Oct 16, 2022 (156)
79 1000G_HIGH_COVERAGE ss5586580108 Oct 16, 2022 (156)
80 SANFORD_IMAGENETICS ss5652531543 Oct 16, 2022 (156)
81 TOMMO_GENOMICS ss5753683048 Oct 16, 2022 (156)
82 YY_MCH ss5812978851 Oct 16, 2022 (156)
83 EVA ss5837547850 Oct 16, 2022 (156)
84 EVA ss5850247879 Oct 16, 2022 (156)
85 EVA ss5903178564 Oct 16, 2022 (156)
86 EVA ss5943881389 Oct 16, 2022 (156)
87 1000Genomes NC_000012.11 - 7455597 Oct 12, 2018 (152)
88 1000Genomes_30x NC_000012.12 - 7303001 Oct 16, 2022 (156)
89 The Avon Longitudinal Study of Parents and Children NC_000012.11 - 7455597 Oct 12, 2018 (152)
90 Genetic variation in the Estonian population NC_000012.11 - 7455597 Oct 12, 2018 (152)
91 The Danish reference pan genome NC_000012.11 - 7455597 Apr 26, 2020 (154)
92 gnomAD - Genomes NC_000012.12 - 7303001 Apr 26, 2021 (155)
93 Genome of the Netherlands Release 5 NC_000012.11 - 7455597 Apr 26, 2020 (154)
94 HapMap NC_000012.12 - 7303001 Apr 26, 2020 (154)
95 KOREAN population from KRGDB NC_000012.11 - 7455597 Apr 26, 2020 (154)
96 Korean Genome Project NC_000012.12 - 7303001 Apr 26, 2020 (154)
97 Northern Sweden NC_000012.11 - 7455597 Jul 13, 2019 (153)
98 Qatari NC_000012.11 - 7455597 Apr 26, 2020 (154)
99 SGDP_PRJ NC_000012.11 - 7455597 Apr 26, 2020 (154)
100 Siberian NC_000012.11 - 7455597 Apr 26, 2020 (154)
101 8.3KJPN NC_000012.11 - 7455597 Apr 26, 2021 (155)
102 14KJPN NC_000012.12 - 7303001 Oct 16, 2022 (156)
103 TopMed NC_000012.12 - 7303001 Apr 26, 2021 (155)
104 UK 10K study - Twins NC_000012.11 - 7455597 Oct 12, 2018 (152)
105 A Vietnamese Genetic Variation Database NC_000012.11 - 7455597 Jul 13, 2019 (153)
106 ALFA NC_000012.12 - 7303001 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).

Associated ID History Updated (Build)
rs17319613 Oct 08, 2004 (123)
rs57838479 May 24, 2008 (130)
rs60386274 Feb 26, 2009 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
33305470, ss3926128076 NC_000012.11:7455596:A:C NC_000012.12:7303000:A:C (self)
ss83748928 NC_000012.9:7346863:A:G NC_000012.12:7303000:A:G (self)
ss66419522, ss76183877, ss88941406, ss111435053, ss113124764, ss118548527, ss167730172, ss168978879, ss170338915, ss172738365, ss203507631, ss208117681, ss281260174, ss286499597, ss291316366, ss1598878749, ss1713304877 NC_000012.10:7346863:A:G NC_000012.12:7303000:A:G (self)
56504885, 31380501, 22222487, 2830832, 13997575, 33305470, 12028230, 14611300, 29641462, 7868106, 62899180, 31380501, 6960596, ss225591385, ss235811738, ss242392942, ss482483679, ss562976169, ss658502548, ss989207267, ss1078225754, ss1388037647, ss1426832958, ss1576095600, ss1627962419, ss1670956452, ss1807105516, ss1932569370, ss1967515038, ss2027031068, ss2155351752, ss2627992877, ss2699673055, ss2907019398, ss2984966739, ss2985609765, ss3009152692, ss3349906682, ss3636173519, ss3653739040, ss3676484239, ss3738743365, ss3750106173, ss3787132087, ss3792247502, ss3797130329, ss3832958583, ss3840042632, ss3877624482, ss3926128076, ss5204929873, ss5652531543, ss5837547850, ss5943881389 NC_000012.11:7455596:A:G NC_000012.12:7303000:A:G (self)
74106043, 398463478, 750125, 27601677, 87520152, 123301688, 2911707355, ss2187589392, ss3027319552, ss3649756463, ss3693055990, ss3815421083, ss3845525268, ss3971223676, ss4907756031, ss5289704669, ss5484608914, ss5586580108, ss5753683048, ss5812978851, ss5850247879, ss5903178564 NC_000012.12:7303000:A:G NC_000012.12:7303000:A:G (self)
ss10716177 NT_009714.15:214570:A:G NC_000012.12:7303000:A:G (self)
ss15922305, ss20905698 NT_009714.16:214570:A:G NC_000012.12:7303000:A:G (self)
ss14422134, ss24427801, ss82391192, ss97202673, ss106784588, ss132979815, ss137393663, ss157065916, ss160851385 NT_009714.17:215720:A:G NC_000012.12:7303000:A:G (self)
33305470, ss3926128076 NC_000012.11:7455596:A:T NC_000012.12:7303000:A:T (self)
Help

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

2 citations for rs7137120
PMID Title Author Year Journal
20877624 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. Hendrickson SL et al. 2010 PloS one
23982661 ACSM4 polymorphisms are associated with rapid AIDS progression in HIV-infected patients. Guzmán-Fulgencio M et al. 2014 Journal of acquired immune deficiency syndromes (1999)
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.post820+afb47a3d