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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.

rs10519177

Current Build 154

Released April 21, 2020

Organism
Homo sapiens
Position
chr15:48464998 (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
A>C / A>G / A>T
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.358037 (44958/125568, TOPMED)
G=0.25990 (13342/51336, ALFA Project)
G=0.34859 (10924/31338, GnomAD) (+ 16 more)
G=0.3878 (1942/5008, 1000G)
G=0.2712 (1215/4480, Estonian)
G=0.2553 (984/3854, ALSPAC)
G=0.2487 (922/3708, TWINSUK)
G=0.4294 (1258/2930, KOREAN)
G=0.3503 (730/2084, HGDP_Stanford)
G=0.4297 (813/1892, HapMap)
G=0.4198 (769/1832, Korea1K)
G=0.245 (245/998, GoNL)
G=0.367 (230/626, Chileans)
G=0.245 (147/600, NorthernSweden)
A=0.324 (99/306, SGDP_PRJ)
G=0.338 (73/216, Qatari)
G=0.369 (79/214, Vietnamese)
G=0.20 (8/40, GENOME_DK)
A=0.43 (13/30, Siberian)
Clinical Significance
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.48464998A>C
GRCh38.p12 chr 15 NC_000015.10:g.48464998A>G
GRCh38.p12 chr 15 NC_000015.10:g.48464998A>T
GRCh37.p13 chr 15 NC_000015.9:g.48757195A>C
GRCh37.p13 chr 15 NC_000015.9:g.48757195A>G
GRCh37.p13 chr 15 NC_000015.9:g.48757195A>T
FBN1 RefSeqGene (LRG_778) NG_008805.2:g.185791T>G
FBN1 RefSeqGene (LRG_778) NG_008805.2:g.185791T>C
FBN1 RefSeqGene (LRG_778) NG_008805.2:g.185791T>A
Gene: FBN1, fibrillin 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
FBN1 transcript NM_000138.5:c.4942+570T>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.

Allele: G (allele ID: 799806 )
ClinVar Accession Disease Names Clinical Significance
RCV001001491.1 not specified Benign

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 51336 A=0.74010 G=0.25990
European Sub 40674 A=0.75134 G=0.24866
African Sub 2174 A=0.4535 G=0.5465
African Others Sub 54 A=0.35 G=0.65
African American Sub 2120 A=0.4561 G=0.5439
Asian Sub 118 A=0.593 G=0.407
East Asian Sub 74 A=0.57 G=0.43
Other Asian Sub 44 A=0.64 G=0.36
Latin American 1 Sub 164 A=0.713 G=0.287
Latin American 2 Sub 2230 A=0.7336 G=0.2664
South Asian Sub 4852 A=0.7887 G=0.2113
Other Sub 1124 A=0.7100 G=0.2900


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 A=0.641963 G=0.358037
ALFA Total Global 51336 A=0.74010 G=0.25990
ALFA European Sub 40674 A=0.75134 G=0.24866
ALFA South Asian Sub 4852 A=0.7887 G=0.2113
ALFA Latin American 2 Sub 2230 A=0.7336 G=0.2664
ALFA African Sub 2174 A=0.4535 G=0.5465
ALFA Other Sub 1124 A=0.7100 G=0.2900
ALFA Latin American 1 Sub 164 A=0.713 G=0.287
ALFA Asian Sub 118 A=0.593 G=0.407
gnomAD - Genomes Global Study-wide 31338 A=0.65141 G=0.34859
gnomAD - Genomes European Sub 18878 A=0.74054 G=0.25946
gnomAD - Genomes African Sub 8692 A=0.4481 G=0.5519
gnomAD - Genomes East Asian Sub 1552 A=0.6153 G=0.3847
gnomAD - Genomes Other Sub 1084 A=0.6863 G=0.3137
gnomAD - Genomes American Sub 842 A=0.736 G=0.264
gnomAD - Genomes Ashkenazi Jewish Sub 290 A=0.759 G=0.241
1000Genomes Global Study-wide 5008 A=0.6122 G=0.3878
1000Genomes African Sub 1322 A=0.3707 G=0.6293
1000Genomes East Asian Sub 1008 A=0.5982 G=0.4018
1000Genomes Europe Sub 1006 A=0.7455 G=0.2545
1000Genomes South Asian Sub 978 A=0.738 G=0.262
1000Genomes American Sub 694 A=0.722 G=0.278
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.7288 G=0.2712
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.7447 G=0.2553
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.7513 G=0.2487
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.5706 C=0.0000, G=0.4294, T=0.0000
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 A=0.6497 G=0.3503
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 A=0.551 G=0.449
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 A=0.737 G=0.263
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 A=0.780 G=0.220
HGDP-CEPH-db Supplement 1 Europe Sub 320 A=0.750 G=0.250
HGDP-CEPH-db Supplement 1 Africa Sub 242 A=0.322 G=0.678
HGDP-CEPH-db Supplement 1 America Sub 216 A=0.671 G=0.329
HGDP-CEPH-db Supplement 1 Oceania Sub 72 A=0.75 G=0.25
HapMap Global Study-wide 1892 A=0.5703 G=0.4297
HapMap American Sub 770 A=0.656 G=0.344
HapMap African Sub 692 A=0.445 G=0.555
HapMap Asian Sub 254 A=0.512 G=0.488
HapMap Europe Sub 176 A=0.773 G=0.227
Korean Genome Project KOREAN Study-wide 1832 A=0.5802 G=0.4198
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.755 G=0.245
Chileans Chilean Study-wide 626 A=0.633 G=0.367
Northern Sweden ACPOP Study-wide 600 A=0.755 G=0.245
SGDP_PRJ Global Study-wide 306 A=0.324 G=0.676
Qatari Global Study-wide 216 A=0.662 G=0.338
A Vietnamese Genetic Variation Database Global Study-wide 214 A=0.631 G=0.369
The Danish reference pan genome Danish Study-wide 40 A=0.80 G=0.20
Siberian Global Study-wide 30 A=0.43 G=0.57
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.p12 chr 15 NC_000015.10:g.48464998= NC_000015.10:g.48464998A>C NC_000015.10:g.48464998A>G NC_000015.10:g.48464998A>T
GRCh37.p13 chr 15 NC_000015.9:g.48757195= NC_000015.9:g.48757195A>C NC_000015.9:g.48757195A>G NC_000015.9:g.48757195A>T
FBN1 RefSeqGene (LRG_778) NG_008805.2:g.185791= NG_008805.2:g.185791T>G NG_008805.2:g.185791T>C NG_008805.2:g.185791T>A
FBN1 transcript NM_000138.4:c.4942+570= NM_000138.4:c.4942+570T>G NM_000138.4:c.4942+570T>C NM_000138.4:c.4942+570T>A
FBN1 transcript NM_000138.5:c.4942+570= NM_000138.5:c.4942+570T>G NM_000138.5:c.4942+570T>C NM_000138.5:c.4942+570T>A
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#.

81 SubSNP, 19 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 PERLEGEN ss14921391 Dec 05, 2003 (119)
2 SSAHASNP ss21246874 Apr 05, 2004 (121)
3 PERLEGEN ss23430464 Sep 20, 2004 (123)
4 ABI ss43723126 Mar 13, 2006 (126)
5 AFFY ss65996462 Nov 30, 2006 (127)
6 AFFY ss66474873 Nov 30, 2006 (127)
7 ILLUMINA ss66763423 Nov 30, 2006 (127)
8 ILLUMINA ss66895229 Nov 30, 2006 (127)
9 ILLUMINA ss67003788 Nov 30, 2006 (127)
10 ILLUMINA ss70375980 May 17, 2007 (127)
11 ILLUMINA ss70491262 May 25, 2008 (130)
12 ILLUMINA ss71015843 May 17, 2007 (127)
13 ILLUMINA ss75793603 Dec 07, 2007 (129)
14 AFFY ss76285354 Dec 07, 2007 (129)
15 KRIBB_YJKIM ss84980073 Dec 15, 2007 (130)
16 HUMANGENOME_JCVI ss96809230 Feb 06, 2009 (130)
17 1000GENOMES ss114137758 Jan 25, 2009 (130)
18 ILLUMINA-UK ss118217094 Feb 14, 2009 (130)
19 ILLUMINA ss121366576 Dec 01, 2009 (131)
20 ENSEMBL ss132399153 Dec 01, 2009 (131)
21 ILLUMINA ss152789431 Dec 01, 2009 (131)
22 GMI ss156509707 Dec 01, 2009 (131)
23 ILLUMINA ss159136058 Dec 01, 2009 (131)
24 COMPLETE_GENOMICS ss169379239 Jul 04, 2010 (132)
25 ILLUMINA ss169553644 Jul 04, 2010 (132)
26 ILLUMINA ss170355491 Jul 04, 2010 (132)
27 COMPLETE_GENOMICS ss171059046 Jul 04, 2010 (132)
28 AFFY ss173125600 Jul 04, 2010 (132)
29 BUSHMAN ss200813419 Jul 04, 2010 (132)
30 1000GENOMES ss226880118 Jul 14, 2010 (132)
31 1000GENOMES ss236768987 Jul 15, 2010 (132)
32 1000GENOMES ss243157465 Jul 15, 2010 (132)
33 GMI ss282245353 May 04, 2012 (137)
34 PJP ss291715380 May 09, 2011 (134)
35 ILLUMINA ss536622793 Sep 08, 2015 (146)
36 TISHKOFF ss564466772 Apr 25, 2013 (138)
37 SSMP ss660186966 Apr 25, 2013 (138)
38 ILLUMINA ss825345591 Apr 01, 2015 (144)
39 ILLUMINA ss832648722 Jul 13, 2019 (153)
40 EVA-GONL ss991761479 Aug 21, 2014 (142)
41 JMKIDD_LAB ss1080105807 Aug 21, 2014 (142)
42 1000GENOMES ss1353367267 Aug 21, 2014 (142)
43 DDI ss1427617975 Apr 01, 2015 (144)
44 EVA_GENOME_DK ss1577599282 Apr 01, 2015 (144)
45 EVA_UK10K_ALSPAC ss1632944944 Apr 01, 2015 (144)
46 EVA_UK10K_TWINSUK ss1675938977 Apr 01, 2015 (144)
47 EVA_DECODE ss1695777680 Apr 01, 2015 (144)
48 EVA_SVP ss1713487938 Apr 01, 2015 (144)
49 HAMMER_LAB ss1808192796 Sep 08, 2015 (146)
50 WEILL_CORNELL_DGM ss1935165313 Feb 12, 2016 (147)
51 GENOMED ss1968100423 Jul 19, 2016 (147)
52 JJLAB ss2028361751 Sep 14, 2016 (149)
53 USC_VALOUEV ss2156762847 Dec 20, 2016 (150)
54 HUMAN_LONGEVITY ss2206574917 Dec 20, 2016 (150)
55 TOPMED ss2371249812 Dec 20, 2016 (150)
56 SYSTEMSBIOZJU ss2628674828 Nov 08, 2017 (151)
57 GRF ss2701231796 Nov 08, 2017 (151)
58 GNOMAD ss2934626217 Nov 08, 2017 (151)
59 SWEGEN ss3013243076 Nov 08, 2017 (151)
60 BIOINF_KMB_FNS_UNIBA ss3028003937 Nov 08, 2017 (151)
61 TOPMED ss3226999980 Nov 08, 2017 (151)
62 CSHL ss3351103970 Nov 08, 2017 (151)
63 ILLUMINA ss3627355377 Oct 12, 2018 (152)
64 ILLUMINA ss3638084167 Oct 12, 2018 (152)
65 ILLUMINA ss3639055171 Oct 12, 2018 (152)
66 ILLUMINA ss3639532845 Oct 12, 2018 (152)
67 ILLUMINA ss3643068474 Oct 12, 2018 (152)
68 URBANLAB ss3650347704 Oct 12, 2018 (152)
69 EGCUT_WGS ss3680383891 Jul 13, 2019 (153)
70 EVA_DECODE ss3697844955 Jul 13, 2019 (153)
71 ACPOP ss3740902057 Jul 13, 2019 (153)
72 EVA ss3753054541 Jul 13, 2019 (153)
73 PACBIO ss3787838792 Jul 13, 2019 (153)
74 PACBIO ss3792851708 Jul 13, 2019 (153)
75 PACBIO ss3797736187 Jul 13, 2019 (153)
76 KHV_HUMAN_GENOMES ss3818372991 Jul 13, 2019 (153)
77 EVA ss3834222059 Apr 27, 2020 (154)
78 HGDP ss3847522762 Apr 27, 2020 (154)
79 SGDP_PRJ ss3882866555 Apr 27, 2020 (154)
80 KRGDB ss3932025453 Apr 27, 2020 (154)
81 KOGIC ss3976092605 Apr 27, 2020 (154)
82 1000Genomes NC_000015.9 - 48757195 Oct 12, 2018 (152)
83 The Avon Longitudinal Study of Parents and Children NC_000015.9 - 48757195 Oct 12, 2018 (152)
84 Chileans NC_000015.9 - 48757195 Apr 27, 2020 (154)
85 Genetic variation in the Estonian population NC_000015.9 - 48757195 Oct 12, 2018 (152)
86 The Danish reference pan genome NC_000015.9 - 48757195 Apr 27, 2020 (154)
87 gnomAD - Genomes NC_000015.9 - 48757195 Jul 13, 2019 (153)
88 Genome of the Netherlands Release 5 NC_000015.9 - 48757195 Apr 27, 2020 (154)
89 HGDP-CEPH-db Supplement 1 NC_000015.8 - 46544487 Apr 27, 2020 (154)
90 HapMap NC_000015.10 - 48464998 Apr 27, 2020 (154)
91 KOREAN population from KRGDB NC_000015.9 - 48757195 Apr 27, 2020 (154)
92 Korean Genome Project NC_000015.10 - 48464998 Apr 27, 2020 (154)
93 Northern Sweden NC_000015.9 - 48757195 Jul 13, 2019 (153)
94 Qatari NC_000015.9 - 48757195 Apr 27, 2020 (154)
95 SGDP_PRJ NC_000015.9 - 48757195 Apr 27, 2020 (154)
96 Siberian NC_000015.9 - 48757195 Apr 27, 2020 (154)
97 TopMed NC_000015.10 - 48464998 Oct 12, 2018 (152)
98 UK 10K study - Twins NC_000015.9 - 48757195 Oct 12, 2018 (152)
99 A Vietnamese Genetic Variation Database NC_000015.9 - 48757195 Jul 13, 2019 (153)
100 dbGaP Population Frequency Project NC_000015.10 - 48464998 Apr 27, 2020 (154)
101 ClinVar RCV001001491.1 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)
rs60133261 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
39202847, ss3932025453 NC_000015.9:48757194:A:C NC_000015.10:48464997:A:C
200654, ss114137758, ss118217094, ss169379239, ss171059046, ss200813419, ss282245353, ss291715380, ss825345591, ss1695777680, ss1713487938, ss3639055171, ss3639532845, ss3643068474, ss3847522762 NC_000015.8:46544486:A:G NC_000015.10:48464997:A:G (self)
66435653, 36878192, 152163, 26122139, 3845755, 181269561, 16470585, 39202847, 14186922, 17207243, 34883535, 9279201, 36878192, 8203967, ss226880118, ss236768987, ss243157465, ss536622793, ss564466772, ss660186966, ss832648722, ss991761479, ss1080105807, ss1353367267, ss1427617975, ss1577599282, ss1632944944, ss1675938977, ss1808192796, ss1935165313, ss1968100423, ss2028361751, ss2156762847, ss2371249812, ss2628674828, ss2701231796, ss2934626217, ss3013243076, ss3351103970, ss3627355377, ss3638084167, ss3680383891, ss3740902057, ss3753054541, ss3787838792, ss3792851708, ss3797736187, ss3834222059, ss3882866555, ss3932025453 NC_000015.9:48757194:A:G NC_000015.10:48464997:A:G (self)
RCV001001491.1, 1258581, 32470606, 128923965, 244831495, ss2206574917, ss3028003937, ss3226999980, ss3650347704, ss3697844955, ss3818372991, ss3976092605 NC_000015.10:48464997:A:G NC_000015.10:48464997:A:G (self)
ss21246874 NT_010194.16:19547751:A:G NC_000015.10:48464997:A:G (self)
ss14921391, ss23430464, ss43723126, ss65996462, ss66474873, ss66763423, ss66895229, ss67003788, ss70375980, ss70491262, ss71015843, ss75793603, ss76285354, ss84980073, ss96809230, ss121366576, ss132399153, ss152789431, ss156509707, ss159136058, ss169553644, ss170355491, ss173125600 NT_010194.17:19547751:A:G NC_000015.10:48464997:A:G (self)
39202847, ss3932025453 NC_000015.9:48757194:A:T NC_000015.10:48464997:A:T
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 rs10519177
PMID Title Author Year Journal
20360993 Candidate gene study to investigate the genetic determinants of normal variation in central corneal thickness. Dimasi DP et al. 2010 Molecular vision
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
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