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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.

rs1036477

Current Build 154

Released April 21, 2020

Organism
Homo sapiens
Position
chr15:48622729 (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>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.258959 (32517/125568, TOPMED)
G=0.128290 (15917/124070, ALFA Project)
G=0.23387 (7322/31308, GnomAD) (+ 16 more)
G=0.2943 (1474/5008, 1000G)
G=0.0971 (435/4480, Estonian)
G=0.1012 (390/3854, ALSPAC)
G=0.1087 (403/3708, TWINSUK)
G=0.2898 (849/2930, KOREAN)
G=0.2649 (552/2084, HGDP_Stanford)
G=0.3473 (655/1886, HapMap)
G=0.2800 (513/1832, Korea1K)
G=0.083 (83/998, GoNL)
G=0.121 (76/626, Chileans)
G=0.090 (54/600, NorthernSweden)
A=0.350 (84/240, SGDP_PRJ)
G=0.273 (59/216, Qatari)
G=0.153 (33/216, Vietnamese)
G=0.12 (5/40, GENOME_DK)
A=0.33 (6/18, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
FBN1 : Intron Variant
Publications
4 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.48622729A>G
GRCh37.p13 chr 15 NC_000015.9:g.48914926A>G
FBN1 RefSeqGene (LRG_778) NG_008805.2:g.28060T>C
Gene: FBN1, fibrillin 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
FBN1 transcript NM_000138.5:c.165-9637T>C 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 124070 A=0.871710 G=0.128290
European Sub 107940 A=0.889994 G=0.110006
African Sub 3766 A=0.4591 G=0.5409
African Others Sub 134 A=0.343 G=0.657
African American Sub 3632 A=0.4634 G=0.5366
Asian Sub 308 A=0.740 G=0.260
East Asian Sub 198 A=0.712 G=0.288
Other Asian Sub 110 A=0.791 G=0.209
Latin American 1 Sub 648 A=0.778 G=0.222
Latin American 2 Sub 3514 A=0.8549 G=0.1451
South Asian Sub 4906 A=0.8587 G=0.1413
Other Sub 2988 A=0.8062 G=0.1938


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=0.741041 G=0.258959
ALFA Total Global 124070 A=0.871710 G=0.128290
ALFA European Sub 107940 A=0.889994 G=0.110006
ALFA South Asian Sub 4906 A=0.8587 G=0.1413
ALFA African Sub 3766 A=0.4591 G=0.5409
ALFA Latin American 2 Sub 3514 A=0.8549 G=0.1451
ALFA Other Sub 2988 A=0.8062 G=0.1938
ALFA Latin American 1 Sub 648 A=0.778 G=0.222
ALFA Asian Sub 308 A=0.740 G=0.260
gnomAD - Genomes Global Study-wide 31308 A=0.76613 G=0.23387
gnomAD - Genomes European Sub 18882 A=0.90006 G=0.09994
gnomAD - Genomes African Sub 8656 A=0.4569 G=0.5431
gnomAD - Genomes East Asian Sub 1554 A=0.7394 G=0.2606
gnomAD - Genomes Other Sub 1082 A=0.8595 G=0.1405
gnomAD - Genomes American Sub 846 A=0.848 G=0.152
gnomAD - Genomes Ashkenazi Jewish Sub 288 A=0.833 G=0.167
1000Genomes Global Study-wide 5008 A=0.7057 G=0.2943
1000Genomes African Sub 1322 A=0.3880 G=0.6120
1000Genomes East Asian Sub 1008 A=0.7302 G=0.2698
1000Genomes Europe Sub 1006 A=0.8827 G=0.1173
1000Genomes South Asian Sub 978 A=0.827 G=0.173
1000Genomes American Sub 694 A=0.847 G=0.153
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.9029 G=0.0971
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.8988 G=0.1012
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.8913 G=0.1087
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.7102 G=0.2898
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 A=0.7351 G=0.2649
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 A=0.670 G=0.330
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 A=0.843 G=0.157
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 A=0.826 G=0.174
HGDP-CEPH-db Supplement 1 Europe Sub 320 A=0.856 G=0.144
HGDP-CEPH-db Supplement 1 Africa Sub 242 A=0.347 G=0.653
HGDP-CEPH-db Supplement 1 America Sub 216 A=0.792 G=0.208
HGDP-CEPH-db Supplement 1 Oceania Sub 72 A=0.69 G=0.31
HapMap Global Study-wide 1886 A=0.6527 G=0.3473
HapMap American Sub 766 A=0.796 G=0.204
HapMap African Sub 690 A=0.461 G=0.539
HapMap Asian Sub 254 A=0.610 G=0.390
HapMap Europe Sub 176 A=0.841 G=0.159
Korean Genome Project KOREAN Study-wide 1832 A=0.7200 G=0.2800
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.917 G=0.083
Chileans Chilean Study-wide 626 A=0.879 G=0.121
Northern Sweden ACPOP Study-wide 600 A=0.910 G=0.090
SGDP_PRJ Global Study-wide 240 A=0.350 G=0.650
Qatari Global Study-wide 216 A=0.727 G=0.273
A Vietnamese Genetic Variation Database Global Study-wide 216 A=0.847 G=0.153
The Danish reference pan genome Danish Study-wide 40 A=0.88 G=0.12
Siberian Global Study-wide 18 A=0.33 G=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 A= G
GRCh38.p12 chr 15 NC_000015.10:g.48622729= NC_000015.10:g.48622729A>G
GRCh37.p13 chr 15 NC_000015.9:g.48914926= NC_000015.9:g.48914926A>G
FBN1 RefSeqGene (LRG_778) NG_008805.2:g.28060= NG_008805.2:g.28060T>C
FBN1 transcript NM_000138.4:c.165-9637= NM_000138.4:c.165-9637T>C
FBN1 transcript NM_000138.5:c.165-9637= NM_000138.5:c.165-9637T>C
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#.

100 SubSNP, 19 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss1502534 Oct 05, 2000 (86)
2 SC_JCM ss3458136 Sep 28, 2001 (100)
3 BCM_SSAHASNP ss10764280 Jul 11, 2003 (116)
4 PERLEGEN ss23646582 Sep 20, 2004 (123)
5 AFFY ss66535579 Dec 01, 2006 (127)
6 ILLUMINA ss66569696 Dec 01, 2006 (127)
7 PERLEGEN ss69175629 May 17, 2007 (127)
8 ILLUMINA ss70364671 May 17, 2007 (127)
9 ILLUMINA ss70476981 May 25, 2008 (130)
10 ILLUMINA ss70999994 May 17, 2007 (127)
11 ILLUMINA ss74941023 Dec 07, 2007 (129)
12 AFFY ss76357997 Dec 07, 2007 (129)
13 HGSV ss78683002 Dec 07, 2007 (129)
14 KRIBB_YJKIM ss81452320 Dec 15, 2007 (130)
15 HGSV ss84569603 Dec 15, 2007 (130)
16 1000GENOMES ss114139032 Jan 25, 2009 (130)
17 ILLUMINA-UK ss118217543 Feb 14, 2009 (130)
18 ILLUMINA ss121299775 Dec 01, 2009 (131)
19 ILLUMINA ss152715750 Dec 01, 2009 (131)
20 ILLUMINA ss159121573 Dec 01, 2009 (131)
21 ILLUMINA ss159888420 Dec 01, 2009 (131)
22 ILLUMINA ss169366840 Jul 04, 2010 (132)
23 COMPLETE_GENOMICS ss169382062 Jul 04, 2010 (132)
24 ILLUMINA ss170010358 Jul 04, 2010 (132)
25 COMPLETE_GENOMICS ss171059997 Jul 04, 2010 (132)
26 AFFY ss173373891 Jul 04, 2010 (132)
27 BUSHMAN ss200814408 Jul 04, 2010 (132)
28 1000GENOMES ss226880596 Jul 14, 2010 (132)
29 1000GENOMES ss236769249 Jul 15, 2010 (132)
30 1000GENOMES ss243157744 Jul 15, 2010 (132)
31 ILLUMINA ss244268654 Jul 04, 2010 (132)
32 GMI ss282245607 May 04, 2012 (137)
33 PJP ss291715523 May 09, 2011 (134)
34 ILLUMINA ss479253805 May 04, 2012 (137)
35 ILLUMINA ss479256682 May 04, 2012 (137)
36 ILLUMINA ss479619556 Sep 08, 2015 (146)
37 ILLUMINA ss484427606 May 04, 2012 (137)
38 ILLUMINA ss536600675 Sep 08, 2015 (146)
39 TISHKOFF ss564467345 Apr 25, 2013 (138)
40 SSMP ss660187554 Apr 25, 2013 (138)
41 ILLUMINA ss778730076 Sep 08, 2015 (146)
42 ILLUMINA ss782660261 Sep 08, 2015 (146)
43 ILLUMINA ss783629312 Sep 08, 2015 (146)
44 ILLUMINA ss825334402 Apr 01, 2015 (144)
45 ILLUMINA ss831910758 Sep 08, 2015 (146)
46 ILLUMINA ss832634298 Jul 13, 2019 (153)
47 ILLUMINA ss834189554 Sep 08, 2015 (146)
48 EVA-GONL ss991762379 Aug 21, 2014 (142)
49 JMKIDD_LAB ss1080106516 Aug 21, 2014 (142)
50 1000GENOMES ss1353371234 Aug 21, 2014 (142)
51 DDI ss1427618120 Apr 01, 2015 (144)
52 EVA_GENOME_DK ss1577599590 Apr 01, 2015 (144)
53 EVA_UK10K_ALSPAC ss1632947106 Apr 01, 2015 (144)
54 EVA_UK10K_TWINSUK ss1675941139 Apr 01, 2015 (144)
55 EVA_DECODE ss1695778635 Apr 01, 2015 (144)
56 EVA_SVP ss1713488016 Apr 01, 2015 (144)
57 ILLUMINA ss1752162054 Sep 08, 2015 (146)
58 HAMMER_LAB ss1808193116 Sep 08, 2015 (146)
59 WEILL_CORNELL_DGM ss1935166206 Feb 12, 2016 (147)
60 JJLAB ss2028362156 Sep 14, 2016 (149)
61 USC_VALOUEV ss2156763297 Dec 20, 2016 (150)
62 HUMAN_LONGEVITY ss2206583432 Dec 20, 2016 (150)
63 TOPMED ss2371258424 Dec 20, 2016 (150)
64 SYSTEMSBIOZJU ss2628675032 Nov 08, 2017 (151)
65 ILLUMINA ss2633225890 Nov 08, 2017 (151)
66 GRF ss2701232318 Nov 08, 2017 (151)
67 GNOMAD ss2934637570 Nov 08, 2017 (151)
68 SWEGEN ss3013244526 Nov 08, 2017 (151)
69 ILLUMINA ss3021631089 Nov 08, 2017 (151)
70 BIOINF_KMB_FNS_UNIBA ss3028004129 Nov 08, 2017 (151)
71 TOPMED ss3227026125 Nov 08, 2017 (151)
72 CSHL ss3351104265 Nov 08, 2017 (151)
73 ILLUMINA ss3627355600 Oct 12, 2018 (152)
74 ILLUMINA ss3631219162 Oct 12, 2018 (152)
75 ILLUMINA ss3633096568 Oct 12, 2018 (152)
76 ILLUMINA ss3633801148 Oct 12, 2018 (152)
77 ILLUMINA ss3634605622 Oct 12, 2018 (152)
78 ILLUMINA ss3635490080 Oct 12, 2018 (152)
79 ILLUMINA ss3636295529 Oct 12, 2018 (152)
80 ILLUMINA ss3637241350 Oct 12, 2018 (152)
81 ILLUMINA ss3638084231 Oct 12, 2018 (152)
82 ILLUMINA ss3639532849 Oct 12, 2018 (152)
83 ILLUMINA ss3640312943 Oct 12, 2018 (152)
84 ILLUMINA ss3641060170 Oct 12, 2018 (152)
85 ILLUMINA ss3641355529 Oct 12, 2018 (152)
86 ILLUMINA ss3643068539 Oct 12, 2018 (152)
87 ILLUMINA ss3652031647 Oct 12, 2018 (152)
88 EGCUT_WGS ss3680385503 Jul 13, 2019 (153)
89 EVA_DECODE ss3697846611 Jul 13, 2019 (153)
90 ILLUMINA ss3725497818 Jul 13, 2019 (153)
91 ACPOP ss3740902800 Jul 13, 2019 (153)
92 ILLUMINA ss3744906156 Jul 13, 2019 (153)
93 EVA ss3753055705 Jul 13, 2019 (153)
94 ILLUMINA ss3772404809 Jul 13, 2019 (153)
95 KHV_HUMAN_GENOMES ss3818374044 Jul 13, 2019 (153)
96 EVA ss3834222408 Apr 27, 2020 (154)
97 HGDP ss3847522784 Apr 27, 2020 (154)
98 SGDP_PRJ ss3882868434 Apr 27, 2020 (154)
99 KRGDB ss3932027561 Apr 27, 2020 (154)
100 KOGIC ss3976094456 Apr 27, 2020 (154)
101 1000Genomes NC_000015.9 - 48914926 Oct 12, 2018 (152)
102 The Avon Longitudinal Study of Parents and Children NC_000015.9 - 48914926 Oct 12, 2018 (152)
103 Chileans NC_000015.9 - 48914926 Apr 27, 2020 (154)
104 Genetic variation in the Estonian population NC_000015.9 - 48914926 Oct 12, 2018 (152)
105 The Danish reference pan genome NC_000015.9 - 48914926 Apr 27, 2020 (154)
106 gnomAD - Genomes NC_000015.9 - 48914926 Jul 13, 2019 (153)
107 Genome of the Netherlands Release 5 NC_000015.9 - 48914926 Apr 27, 2020 (154)
108 HGDP-CEPH-db Supplement 1 NC_000015.8 - 46702218 Apr 27, 2020 (154)
109 HapMap NC_000015.10 - 48622729 Apr 27, 2020 (154)
110 KOREAN population from KRGDB NC_000015.9 - 48914926 Apr 27, 2020 (154)
111 Korean Genome Project NC_000015.10 - 48622729 Apr 27, 2020 (154)
112 Northern Sweden NC_000015.9 - 48914926 Jul 13, 2019 (153)
113 Qatari NC_000015.9 - 48914926 Apr 27, 2020 (154)
114 SGDP_PRJ NC_000015.9 - 48914926 Apr 27, 2020 (154)
115 Siberian NC_000015.9 - 48914926 Apr 27, 2020 (154)
116 TopMed NC_000015.10 - 48622729 Oct 12, 2018 (152)
117 UK 10K study - Twins NC_000015.9 - 48914926 Oct 12, 2018 (152)
118 A Vietnamese Genetic Variation Database NC_000015.9 - 48914926 Jul 13, 2019 (153)
119 dbGaP Population Frequency Project NC_000015.10 - 48622729 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)
rs58526618 Feb 27, 2009 (130)
rs60243873 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
200676, ss66535579, ss76357997, ss78683002, ss84569603, ss114139032, ss118217543, ss169382062, ss171059997, ss173373891, ss200814408, ss282245607, ss291715523, ss479253805, ss825334402, ss1695778635, ss1713488016, ss3639532849, ss3643068539, ss3847522784 NC_000015.8:46702217:A:G NC_000015.10:48622728:A:G (self)
66439735, 36880522, 152211, 26123751, 3846041, 181280911, 16471475, 39204955, 14187665, 17208136, 34885414, 9279651, 36880522, 8204412, ss226880596, ss236769249, ss243157744, ss479256682, ss479619556, ss484427606, ss536600675, ss564467345, ss660187554, ss778730076, ss782660261, ss783629312, ss831910758, ss832634298, ss834189554, ss991762379, ss1080106516, ss1353371234, ss1427618120, ss1577599590, ss1632947106, ss1675941139, ss1752162054, ss1808193116, ss1935166206, ss2028362156, ss2156763297, ss2371258424, ss2628675032, ss2633225890, ss2701232318, ss2934637570, ss3013244526, ss3021631089, ss3351104265, ss3627355600, ss3631219162, ss3633096568, ss3633801148, ss3634605622, ss3635490080, ss3636295529, ss3637241350, ss3638084231, ss3640312943, ss3641060170, ss3641355529, ss3652031647, ss3680385503, ss3740902800, ss3744906156, ss3753055705, ss3772404809, ss3834222408, ss3882868434, ss3932027561 NC_000015.9:48914925:A:G NC_000015.10:48622728:A:G (self)
1258833, 32472457, 128946824, 3724629, ss2206583432, ss3028004129, ss3227026125, ss3697846611, ss3725497818, ss3818374044, ss3976094456 NC_000015.10:48622728:A:G NC_000015.10:48622728:A:G (self)
ss10764280 NT_010194.15:19704536:A:G NC_000015.10:48622728:A:G (self)
ss1502534, ss3458136, ss23646582, ss66569696, ss69175629, ss70364671, ss70476981, ss70999994, ss74941023, ss81452320, ss121299775, ss152715750, ss159121573, ss159888420, ss169366840, ss170010358, ss244268654 NT_010194.17:19705482:A:G NC_000015.10:48622728:A:G (self)
Help

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

4 citations for rs1036477
PMID Title Author Year Journal
17999355 A genomewide association study of skin pigmentation in a South Asian population. Stokowski RP et al. 2007 American journal of human genetics
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
28739976 Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney. Wain LV et al. 2017 Hypertension (Dallas, Tex.
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