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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.

rs2118181

Current Build 154

Released April 21, 2020

Organism
Homo sapiens
Position
chr15:48623687 (GRCh38.p12) 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=0.244776 (30736/125568, TOPMED)
C=0.15112 (8027/53118, ALFA Project)
C=0.22355 (7011/31362, GnomAD) (+ 16 more)
C=0.2837 (1421/5008, 1000G)
C=0.0980 (439/4480, Estonian)
C=0.1012 (390/3854, ALSPAC)
C=0.1087 (403/3708, TWINSUK)
C=0.2908 (852/2930, KOREAN)
C=0.2490 (519/2084, HGDP_Stanford)
C=0.2806 (514/1832, Korea1K)
C=0.3675 (588/1600, HapMap)
C=0.083 (83/998, GoNL)
C=0.177 (111/626, Chileans)
C=0.090 (54/600, NorthernSweden)
T=0.382 (91/238, SGDP_PRJ)
C=0.269 (58/216, Qatari)
C=0.171 (36/210, Vietnamese)
C=0.12 (5/40, GENOME_DK)
T=0.33 (6/18, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
FBN1 : Intron Variant
Publications
5 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.p12 chr 15 NC_000015.10:g.48623687T>C
GRCh37.p13 chr 15 NC_000015.9:g.48915884T>C
FBN1 RefSeqGene (LRG_778) NG_008805.2:g.27102A>G
Gene: FBN1, fibrillin 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
FBN1 transcript NM_000138.5:c.165-10595A>G N/A Intron 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 (New)
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: 20200227123210
Population Group Sample Size Ref Allele Alt Allele
Total Global 53118 T=0.84888 C=0.15112
European Sub 41884 T=0.88910 C=0.11090
African Sub 4874 T=0.5037 C=0.4963
African Others Sub 142 T=0.373 C=0.627
African American Sub 4732 T=0.5076 C=0.4924
Asian Sub 124 T=0.702 C=0.298
East Asian Sub 80 T=0.69 C=0.31
Other Asian Sub 44 T=0.73 C=0.27
Latin American 1 Sub 86 T=0.80 C=0.20
Latin American 2 Sub 224 T=0.871 C=0.129
South Asian Sub 4852 T=0.8592 C=0.1408
Other Sub 1074 T=0.8166 C=0.1834


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 125568 T=0.755224 C=0.244776
ALFA Total Global 53118 T=0.84888 C=0.15112
ALFA European Sub 41884 T=0.88910 C=0.11090
ALFA African Sub 4874 T=0.5037 C=0.4963
ALFA South Asian Sub 4852 T=0.8592 C=0.1408
ALFA Other Sub 1074 T=0.8166 C=0.1834
ALFA Latin American 2 Sub 224 T=0.871 C=0.129
ALFA Asian Sub 124 T=0.702 C=0.298
ALFA Latin American 1 Sub 86 T=0.80 C=0.20
gnomAD - Genomes Global Study-wide 31362 T=0.77645 C=0.22355
gnomAD - Genomes European Sub 18896 T=0.90014 C=0.09986
gnomAD - Genomes African Sub 8688 T=0.4949 C=0.5051
gnomAD - Genomes East Asian Sub 1558 T=0.7388 C=0.2612
gnomAD - Genomes Other Sub 1086 T=0.8573 C=0.1427
gnomAD - Genomes American Sub 846 T=0.851 C=0.149
gnomAD - Genomes Ashkenazi Jewish Sub 288 T=0.833 C=0.167
1000Genomes Global Study-wide 5008 T=0.7163 C=0.2837
1000Genomes African Sub 1322 T=0.4304 C=0.5696
1000Genomes East Asian Sub 1008 T=0.7292 C=0.2708
1000Genomes Europe Sub 1006 T=0.8817 C=0.1183
1000Genomes South Asian Sub 978 T=0.826 C=0.174
1000Genomes American Sub 694 T=0.847 C=0.153
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.9020 C=0.0980
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.8988 C=0.1012
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.8913 C=0.1087
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.7092 C=0.2908
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 T=0.7510 C=0.2490
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 T=0.668 C=0.332
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 T=0.848 C=0.152
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 T=0.829 C=0.171
HGDP-CEPH-db Supplement 1 Europe Sub 320 T=0.856 C=0.144
HGDP-CEPH-db Supplement 1 Africa Sub 242 T=0.475 C=0.525
HGDP-CEPH-db Supplement 1 America Sub 216 T=0.792 C=0.208
HGDP-CEPH-db Supplement 1 Oceania Sub 72 T=0.69 C=0.31
Korean Genome Project KOREAN Study-wide 1832 T=0.7194 C=0.2806
HapMap Global Study-wide 1600 T=0.6325 C=0.3675
HapMap African Sub 680 T=0.490 C=0.510
HapMap American Sub 670 T=0.787 C=0.213
HapMap Asian Sub 250 T=0.608 C=0.392
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.917 C=0.083
Chileans Chilean Study-wide 626 T=0.823 C=0.177
Northern Sweden ACPOP Study-wide 600 T=0.910 C=0.090
SGDP_PRJ Global Study-wide 238 T=0.382 C=0.618
Qatari Global Study-wide 216 T=0.731 C=0.269
A Vietnamese Genetic Variation Database Global Study-wide 210 T=0.829 C=0.171
The Danish reference pan genome Danish Study-wide 40 T=0.88 C=0.12
Siberian Global Study-wide 18 T=0.33 C=0.67
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.p12 chr 15 NC_000015.10:g.48623687= NC_000015.10:g.48623687T>C
GRCh37.p13 chr 15 NC_000015.9:g.48915884= NC_000015.9:g.48915884T>C
FBN1 RefSeqGene (LRG_778) NG_008805.2:g.27102= NG_008805.2:g.27102A>G
FBN1 transcript NM_000138.4:c.165-10595= NM_000138.4:c.165-10595A>G
FBN1 transcript NM_000138.5:c.165-10595= NM_000138.5:c.165-10595A>G
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#.

83 SubSNP, 19 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss3039526 Jun 15, 2001 (96)
2 SC_JCM ss3443310 Sep 28, 2001 (100)
3 TSC-CSHL ss5209748 Oct 08, 2002 (108)
4 PERLEGEN ss23646587 Sep 20, 2004 (123)
5 AFFY ss66521963 Nov 29, 2006 (127)
6 ILLUMINA ss66835399 Nov 29, 2006 (127)
7 ILLUMINA ss67225820 Nov 29, 2006 (127)
8 ILLUMINA ss67620705 Nov 29, 2006 (127)
9 PERLEGEN ss69175630 May 16, 2007 (127)
10 ILLUMINA ss70704122 May 24, 2008 (130)
11 ILLUMINA ss71270604 May 16, 2007 (127)
12 ILLUMINA ss75917220 Dec 06, 2007 (129)
13 AFFY ss76344639 Dec 06, 2007 (129)
14 ILLUMINA ss79114973 Dec 15, 2007 (130)
15 KRIBB_YJKIM ss83975286 Dec 15, 2007 (130)
16 1000GENOMES ss114139047 Jan 25, 2009 (130)
17 ILLUMINA-UK ss118217547 Feb 14, 2009 (130)
18 ILLUMINA ss121919779 Dec 01, 2009 (131)
19 ILLUMINA ss153857348 Dec 01, 2009 (131)
20 ILLUMINA ss159359899 Dec 01, 2009 (131)
21 COMPLETE_GENOMICS ss169382094 Jul 04, 2010 (132)
22 ILLUMINA ss171026391 Jul 04, 2010 (132)
23 COMPLETE_GENOMICS ss171060010 Jul 04, 2010 (132)
24 ILLUMINA ss173124414 Jul 04, 2010 (132)
25 AFFY ss173331121 Jul 04, 2010 (132)
26 BUSHMAN ss200814425 Jul 04, 2010 (132)
27 1000GENOMES ss226880598 Jul 14, 2010 (132)
28 1000GENOMES ss236769251 Jul 15, 2010 (132)
29 1000GENOMES ss243157746 Jul 15, 2010 (132)
30 GMI ss282245609 May 04, 2012 (137)
31 ILLUMINA ss483399492 May 04, 2012 (137)
32 ILLUMINA ss483622642 May 04, 2012 (137)
33 ILLUMINA ss535826613 Sep 08, 2015 (146)
34 TISHKOFF ss564467350 Apr 25, 2013 (138)
35 SSMP ss660187558 Apr 25, 2013 (138)
36 ILLUMINA ss780346791 Sep 08, 2015 (146)
37 ILLUMINA ss782254670 Sep 08, 2015 (146)
38 ILLUMINA ss825445491 Apr 01, 2015 (144)
39 ILLUMINA ss832871790 Aug 21, 2014 (142)
40 ILLUMINA ss833462620 Aug 21, 2014 (142)
41 ILLUMINA ss835834442 Sep 08, 2015 (146)
42 EVA-GONL ss991762386 Aug 21, 2014 (142)
43 JMKIDD_LAB ss1080106523 Aug 21, 2014 (142)
44 1000GENOMES ss1353371255 Aug 21, 2014 (142)
45 DDI ss1427618121 Apr 01, 2015 (144)
46 EVA_GENOME_DK ss1577599592 Apr 01, 2015 (144)
47 EVA_UK10K_ALSPAC ss1632947120 Apr 01, 2015 (144)
48 EVA_UK10K_TWINSUK ss1675941153 Apr 01, 2015 (144)
49 EVA_DECODE ss1695778642 Apr 01, 2015 (144)
50 EVA_SVP ss1713488018 Apr 01, 2015 (144)
51 HAMMER_LAB ss1808193118 Sep 08, 2015 (146)
52 WEILL_CORNELL_DGM ss1935166208 Feb 12, 2016 (147)
53 GENOMED ss1968100647 Jul 19, 2016 (147)
54 JJLAB ss2028362159 Sep 14, 2016 (149)
55 USC_VALOUEV ss2156763299 Dec 20, 2016 (150)
56 HUMAN_LONGEVITY ss2206583479 Dec 20, 2016 (150)
57 TOPMED ss2371258474 Dec 20, 2016 (150)
58 SYSTEMSBIOZJU ss2628675033 Nov 08, 2017 (151)
59 ILLUMINA ss2633225892 Nov 08, 2017 (151)
60 GRF ss2701232322 Nov 08, 2017 (151)
61 ILLUMINA ss2710816319 Nov 08, 2017 (151)
62 GNOMAD ss2934637650 Nov 08, 2017 (151)
63 SWEGEN ss3013244533 Nov 08, 2017 (151)
64 BIOINF_KMB_FNS_UNIBA ss3028004130 Nov 08, 2017 (151)
65 TOPMED ss3227026293 Nov 08, 2017 (151)
66 CSHL ss3351104266 Nov 08, 2017 (151)
67 ILLUMINA ss3627355603 Oct 12, 2018 (152)
68 ILLUMINA ss3631219163 Oct 12, 2018 (152)
69 ILLUMINA ss3638084233 Oct 12, 2018 (152)
70 ILLUMINA ss3639055190 Oct 12, 2018 (152)
71 ILLUMINA ss3639532850 Oct 12, 2018 (152)
72 ILLUMINA ss3641911910 Oct 12, 2018 (152)
73 ILLUMINA ss3643068541 Oct 12, 2018 (152)
74 EGCUT_WGS ss3680385512 Jul 13, 2019 (153)
75 EVA_DECODE ss3697846622 Jul 13, 2019 (153)
76 ACPOP ss3740902804 Jul 13, 2019 (153)
77 EVA ss3753055714 Jul 13, 2019 (153)
78 KHV_HUMAN_GENOMES ss3818374049 Jul 13, 2019 (153)
79 EVA ss3834222410 Apr 27, 2020 (154)
80 HGDP ss3847522786 Apr 27, 2020 (154)
81 SGDP_PRJ ss3882868445 Apr 27, 2020 (154)
82 KRGDB ss3932027573 Apr 27, 2020 (154)
83 KOGIC ss3976094469 Apr 27, 2020 (154)
84 1000Genomes NC_000015.9 - 48915884 Oct 12, 2018 (152)
85 The Avon Longitudinal Study of Parents and Children NC_000015.9 - 48915884 Oct 12, 2018 (152)
86 Chileans NC_000015.9 - 48915884 Apr 27, 2020 (154)
87 Genetic variation in the Estonian population NC_000015.9 - 48915884 Oct 12, 2018 (152)
88 The Danish reference pan genome NC_000015.9 - 48915884 Apr 27, 2020 (154)
89 gnomAD - Genomes NC_000015.9 - 48915884 Jul 13, 2019 (153)
90 Genome of the Netherlands Release 5 NC_000015.9 - 48915884 Apr 27, 2020 (154)
91 HGDP-CEPH-db Supplement 1 NC_000015.8 - 46703176 Apr 27, 2020 (154)
92 HapMap NC_000015.10 - 48623687 Apr 27, 2020 (154)
93 KOREAN population from KRGDB NC_000015.9 - 48915884 Apr 27, 2020 (154)
94 Korean Genome Project NC_000015.10 - 48623687 Apr 27, 2020 (154)
95 Northern Sweden NC_000015.9 - 48915884 Jul 13, 2019 (153)
96 Qatari NC_000015.9 - 48915884 Apr 27, 2020 (154)
97 SGDP_PRJ NC_000015.9 - 48915884 Apr 27, 2020 (154)
98 Siberian NC_000015.9 - 48915884 Apr 27, 2020 (154)
99 TopMed NC_000015.10 - 48623687 Oct 12, 2018 (152)
100 UK 10K study - Twins NC_000015.9 - 48915884 Oct 12, 2018 (152)
101 A Vietnamese Genetic Variation Database NC_000015.9 - 48915884 Jul 13, 2019 (153)
102 dbGaP Population Frequency Project NC_000015.10 - 48623687 Apr 27, 2020 (154)
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)
rs58507778 May 24, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
200678, ss66521963, ss76344639, ss114139047, ss118217547, ss169382094, ss171060010, ss173331121, ss200814425, ss282245609, ss483399492, ss825445491, ss1695778642, ss1713488018, ss3639055190, ss3639532850, ss3643068541, ss3847522786 NC_000015.8:46703175:T:C NC_000015.10:48623686:T:C (self)
66439756, 36880536, 152213, 26123760, 3846043, 181280987, 16471482, 39204967, 14187669, 17208138, 34885425, 9279653, 36880536, 8204416, ss226880598, ss236769251, ss243157746, ss483622642, ss535826613, ss564467350, ss660187558, ss780346791, ss782254670, ss832871790, ss833462620, ss835834442, ss991762386, ss1080106523, ss1353371255, ss1427618121, ss1577599592, ss1632947120, ss1675941153, ss1808193118, ss1935166208, ss1968100647, ss2028362159, ss2156763299, ss2371258474, ss2628675033, ss2633225892, ss2701232322, ss2710816319, ss2934637650, ss3013244533, ss3351104266, ss3627355603, ss3631219163, ss3638084233, ss3641911910, ss3680385512, ss3740902804, ss3753055714, ss3834222410, ss3882868445, ss3932027573 NC_000015.9:48915883:T:C NC_000015.10:48623686:T:C (self)
1258835, 32472470, 128946980, 612772062, ss2206583479, ss3028004130, ss3227026293, ss3697846622, ss3818374049, ss3976094469 NC_000015.10:48623686:T:C NC_000015.10:48623686:T:C (self)
ss3039526, ss3443310, ss5209748, ss23646587, ss66835399, ss67225820, ss67620705, ss69175630, ss70704122, ss71270604, ss75917220, ss79114973, ss83975286, ss121919779, ss153857348, ss159359899, ss171026391, ss173124414 NT_010194.17:19706440:T:C NC_000015.10:48623686: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.

5 citations for rs2118181
PMID Title Author Year Journal
21909107 Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1. LeMaire SA et al. 2011 Nature genetics
25583878 FBN1 polymorphisms in patients with the dilatative pathology of the ascending thoracic aorta. Lesauskaite V et al. 2015 European journal of cardio-thoracic surgery
26322848 Association between <i>Fibrillin1</i> Polymorphisms (rs2118181, rs10519177) and Transforming Growth Factor β1 Concentration in Human Plasma. Sepetiene R et al. 2015 Molecular medicine (Cambridge, Mass.)
27418160 Shared Genetic Risk Factors of Intracranial, Abdominal, and Thoracic Aneurysms. van 't Hof FN et al. 2016 Journal of the American Heart Association
28339009 Identification of EGFLAM, SPATC1L and RNASE13 as novel susceptibility loci for aortic aneurysm in Japanese individuals by exome-wide association studies. Yamada Y et al. 2017 International journal of molecular medicine
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.post536+f5d31d6