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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.

rs4774517

Current Build 154

Released April 21, 2020

Organism
Homo sapiens
Position
chr15:48467094 (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
G>C / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.349086 (43834/125568, TOPMED)
T=0.25312 (11270/44524, ALFA Project)
T=0.34012 (10658/31336, GnomAD) (+ 15 more)
T=0.3784 (1895/5008, 1000G)
T=0.2708 (1213/4480, Estonian)
T=0.2543 (980/3854, ALSPAC)
T=0.2484 (921/3708, TWINSUK)
T=0.4290 (1257/2930, KOREAN)
T=0.3426 (714/2084, HGDP_Stanford)
T=0.4224 (795/1882, HapMap)
T=0.4198 (769/1832, Korea1K)
T=0.245 (245/998, GoNL)
T=0.245 (147/600, NorthernSweden)
G=0.322 (98/304, SGDP_PRJ)
T=0.338 (73/216, Qatari)
T=0.357 (75/210, Vietnamese)
T=0.20 (8/40, GENOME_DK)
G=0.43 (13/30, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
FBN1 : Intron Variant
Publications
3 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.48467094G>C
GRCh38.p12 chr 15 NC_000015.10:g.48467094G>T
GRCh37.p13 chr 15 NC_000015.9:g.48759291G>C
GRCh37.p13 chr 15 NC_000015.9:g.48759291G>T
FBN1 RefSeqGene (LRG_778) NG_008805.2:g.183695C>G
FBN1 RefSeqGene (LRG_778) NG_008805.2:g.183695C>A
Gene: FBN1, fibrillin 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
FBN1 transcript NM_000138.5:c.4747+844C>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 44524 G=0.74688 T=0.25312
European Sub 37564 G=0.75229 T=0.24771
African Sub 1494 G=0.4886 T=0.5114
African Others Sub 42 G=0.36 T=0.64
African American Sub 1452 G=0.4924 T=0.5076
Asian Sub 70 G=0.60 T=0.40
East Asian Sub 58 G=0.57 T=0.43
Other Asian Sub 12 G=0.75 T=0.25
Latin American 1 Sub 18 G=0.89 T=0.11
Latin American 2 Sub 70 G=0.77 T=0.23
South Asian Sub 4838 G=0.7900 T=0.2100
Other Sub 470 G=0.704 T=0.296


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 G=0.650914 T=0.349086
ALFA Total Global 44524 G=0.74688 T=0.25312
ALFA European Sub 37564 G=0.75229 T=0.24771
ALFA South Asian Sub 4838 G=0.7900 T=0.2100
ALFA African Sub 1494 G=0.4886 T=0.5114
ALFA Other Sub 470 G=0.704 T=0.296
ALFA Latin American 2 Sub 70 G=0.77 T=0.23
ALFA Asian Sub 70 G=0.60 T=0.40
ALFA Latin American 1 Sub 18 G=0.89 T=0.11
gnomAD - Genomes Global Study-wide 31336 G=0.65988 T=0.34012
gnomAD - Genomes European Sub 18874 G=0.74144 T=0.25856
gnomAD - Genomes African Sub 8692 G=0.4758 T=0.5242
gnomAD - Genomes East Asian Sub 1552 G=0.6179 T=0.3821
gnomAD - Genomes Other Sub 1080 G=0.6861 T=0.3139
gnomAD - Genomes American Sub 848 G=0.741 T=0.259
gnomAD - Genomes Ashkenazi Jewish Sub 290 G=0.759 T=0.241
1000Genomes Global Study-wide 5008 G=0.6216 T=0.3784
1000Genomes African Sub 1322 G=0.4039 T=0.5961
1000Genomes East Asian Sub 1008 G=0.5982 T=0.4018
1000Genomes Europe Sub 1006 G=0.7455 T=0.2545
1000Genomes South Asian Sub 978 G=0.740 T=0.260
1000Genomes American Sub 694 G=0.723 T=0.277
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.7292 T=0.2708
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.7457 T=0.2543
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.7516 T=0.2484
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.5710 C=0.0000, T=0.4290
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 G=0.6574 T=0.3426
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 G=0.551 T=0.449
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 G=0.746 T=0.254
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 G=0.786 T=0.214
HGDP-CEPH-db Supplement 1 Europe Sub 320 G=0.750 T=0.250
HGDP-CEPH-db Supplement 1 Africa Sub 242 G=0.360 T=0.640
HGDP-CEPH-db Supplement 1 America Sub 216 G=0.676 T=0.324
HGDP-CEPH-db Supplement 1 Oceania Sub 72 G=0.75 T=0.25
HapMap Global Study-wide 1882 G=0.5776 T=0.4224
HapMap American Sub 764 G=0.654 T=0.346
HapMap African Sub 690 G=0.465 T=0.535
HapMap Asian Sub 252 G=0.512 T=0.488
HapMap Europe Sub 176 G=0.778 T=0.222
Korean Genome Project KOREAN Study-wide 1832 G=0.5802 T=0.4198
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.755 T=0.245
Northern Sweden ACPOP Study-wide 600 G=0.755 T=0.245
SGDP_PRJ Global Study-wide 304 G=0.322 T=0.678
Qatari Global Study-wide 216 G=0.662 T=0.338
A Vietnamese Genetic Variation Database Global Study-wide 210 G=0.643 T=0.357
The Danish reference pan genome Danish Study-wide 40 G=0.80 T=0.20
Siberian Global Study-wide 30 G=0.43 T=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 G= C T
GRCh38.p12 chr 15 NC_000015.10:g.48467094= NC_000015.10:g.48467094G>C NC_000015.10:g.48467094G>T
GRCh37.p13 chr 15 NC_000015.9:g.48759291= NC_000015.9:g.48759291G>C NC_000015.9:g.48759291G>T
FBN1 RefSeqGene (LRG_778) NG_008805.2:g.183695= NG_008805.2:g.183695C>G NG_008805.2:g.183695C>A
FBN1 transcript NM_000138.4:c.4747+844= NM_000138.4:c.4747+844C>G NM_000138.4:c.4747+844C>A
FBN1 transcript NM_000138.5:c.4747+844= NM_000138.5:c.4747+844C>G NM_000138.5:c.4747+844C>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#.

75 SubSNP, 18 Frequency submissions
No Submitter Submission ID Date (Build)
1 WI_SSAHASNP ss6587030 Feb 20, 2003 (111)
2 BCM_SSAHASNP ss10793402 Jul 11, 2003 (116)
3 PERLEGEN ss23999223 Sep 20, 2004 (123)
4 ILLUMINA ss66588159 Nov 30, 2006 (127)
5 ILLUMINA ss67374229 Nov 30, 2006 (127)
6 ILLUMINA ss67755380 Nov 30, 2006 (127)
7 ILLUMINA ss70823758 May 25, 2008 (130)
8 ILLUMINA ss71405618 May 17, 2007 (127)
9 ILLUMINA ss74924626 Dec 07, 2007 (129)
10 ILLUMINA ss79194573 Dec 15, 2007 (130)
11 HGSV ss84180640 Dec 15, 2007 (130)
12 KRIBB_YJKIM ss84348207 Dec 15, 2007 (130)
13 HGSV ss85017478 Dec 15, 2007 (130)
14 1000GENOMES ss114137783 Jan 25, 2009 (130)
15 ILLUMINA-UK ss118217105 Feb 14, 2009 (130)
16 ILLUMINA ss122383615 Dec 01, 2009 (131)
17 ILLUMINA ss154316044 Dec 01, 2009 (131)
18 GMI ss156509736 Dec 01, 2009 (131)
19 ILLUMINA ss159492721 Dec 01, 2009 (131)
20 COMPLETE_GENOMICS ss169379304 Jul 04, 2010 (132)
21 COMPLETE_GENOMICS ss171059090 Jul 04, 2010 (132)
22 ILLUMINA ss171910508 Jul 04, 2010 (132)
23 ILLUMINA ss173807508 Jul 04, 2010 (132)
24 BUSHMAN ss200813450 Jul 04, 2010 (132)
25 1000GENOMES ss226880128 Jul 14, 2010 (132)
26 1000GENOMES ss236768992 Jul 15, 2010 (132)
27 1000GENOMES ss243157472 Jul 15, 2010 (132)
28 GMI ss282245359 May 04, 2012 (137)
29 ILLUMINA ss537272181 Sep 08, 2015 (146)
30 TISHKOFF ss564466780 Apr 25, 2013 (138)
31 SSMP ss660186977 Apr 25, 2013 (138)
32 ILLUMINA ss825525091 Apr 01, 2015 (144)
33 ILLUMINA ss833004113 Jul 13, 2019 (153)
34 EVA-GONL ss991761494 Aug 21, 2014 (142)
35 JMKIDD_LAB ss1080105816 Aug 21, 2014 (142)
36 1000GENOMES ss1353367323 Aug 21, 2014 (142)
37 DDI ss1427617979 Apr 01, 2015 (144)
38 EVA_GENOME_DK ss1577599289 Apr 01, 2015 (144)
39 EVA_UK10K_ALSPAC ss1632944971 Apr 01, 2015 (144)
40 EVA_UK10K_TWINSUK ss1675939004 Apr 01, 2015 (144)
41 EVA_DECODE ss1695777701 Apr 01, 2015 (144)
42 EVA_SVP ss1713487939 Apr 01, 2015 (144)
43 HAMMER_LAB ss1808192802 Sep 08, 2015 (146)
44 WEILL_CORNELL_DGM ss1935165323 Feb 12, 2016 (147)
45 GENOMED ss1968100428 Jul 19, 2016 (147)
46 JJLAB ss2028361761 Sep 14, 2016 (149)
47 USC_VALOUEV ss2156762856 Dec 20, 2016 (150)
48 HUMAN_LONGEVITY ss2206575017 Dec 20, 2016 (150)
49 TOPMED ss2371249925 Dec 20, 2016 (150)
50 SYSTEMSBIOZJU ss2628674831 Nov 08, 2017 (151)
51 GRF ss2701231805 Nov 08, 2017 (151)
52 GNOMAD ss2934626350 Nov 08, 2017 (151)
53 SWEGEN ss3013243095 Nov 08, 2017 (151)
54 BIOINF_KMB_FNS_UNIBA ss3028003941 Nov 08, 2017 (151)
55 TOPMED ss3227000315 Nov 08, 2017 (151)
56 CSHL ss3351103976 Nov 08, 2017 (151)
57 ILLUMINA ss3627355383 Oct 12, 2018 (152)
58 ILLUMINA ss3638084170 Oct 12, 2018 (152)
59 ILLUMINA ss3639055172 Oct 12, 2018 (152)
60 ILLUMINA ss3639532846 Oct 12, 2018 (152)
61 ILLUMINA ss3643068477 Oct 12, 2018 (152)
62 URBANLAB ss3650347706 Oct 12, 2018 (152)
63 EGCUT_WGS ss3680383918 Jul 13, 2019 (153)
64 EVA_DECODE ss3697844977 Jul 13, 2019 (153)
65 ACPOP ss3740902069 Jul 13, 2019 (153)
66 EVA ss3753054564 Jul 13, 2019 (153)
67 PACBIO ss3787838794 Jul 13, 2019 (153)
68 PACBIO ss3792851710 Jul 13, 2019 (153)
69 PACBIO ss3797736189 Jul 13, 2019 (153)
70 KHV_HUMAN_GENOMES ss3818373009 Jul 13, 2019 (153)
71 EVA ss3834222065 Apr 27, 2020 (154)
72 HGDP ss3847522763 Apr 27, 2020 (154)
73 SGDP_PRJ ss3882866577 Apr 27, 2020 (154)
74 KRGDB ss3932025481 Apr 27, 2020 (154)
75 KOGIC ss3976092633 Apr 27, 2020 (154)
76 1000Genomes NC_000015.9 - 48759291 Oct 12, 2018 (152)
77 The Avon Longitudinal Study of Parents and Children NC_000015.9 - 48759291 Oct 12, 2018 (152)
78 Genetic variation in the Estonian population NC_000015.9 - 48759291 Oct 12, 2018 (152)
79 The Danish reference pan genome NC_000015.9 - 48759291 Apr 27, 2020 (154)
80 gnomAD - Genomes NC_000015.9 - 48759291 Jul 13, 2019 (153)
81 Genome of the Netherlands Release 5 NC_000015.9 - 48759291 Apr 27, 2020 (154)
82 HGDP-CEPH-db Supplement 1 NC_000015.8 - 46546583 Apr 27, 2020 (154)
83 HapMap NC_000015.10 - 48467094 Apr 27, 2020 (154)
84 KOREAN population from KRGDB NC_000015.9 - 48759291 Apr 27, 2020 (154)
85 Korean Genome Project NC_000015.10 - 48467094 Apr 27, 2020 (154)
86 Northern Sweden NC_000015.9 - 48759291 Jul 13, 2019 (153)
87 Qatari NC_000015.9 - 48759291 Apr 27, 2020 (154)
88 SGDP_PRJ NC_000015.9 - 48759291 Apr 27, 2020 (154)
89 Siberian NC_000015.9 - 48759291 Apr 27, 2020 (154)
90 TopMed NC_000015.10 - 48467094 Oct 12, 2018 (152)
91 UK 10K study - Twins NC_000015.9 - 48759291 Oct 12, 2018 (152)
92 A Vietnamese Genetic Variation Database NC_000015.9 - 48759291 Jul 13, 2019 (153)
93 dbGaP Population Frequency Project NC_000015.10 - 48467094 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)
rs58890450 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
39202875, ss3932025481 NC_000015.9:48759290:G:C NC_000015.10:48467093:G:C
200655, ss84180640, ss85017478, ss114137783, ss118217105, ss169379304, ss171059090, ss200813450, ss282245359, ss825525091, ss1695777701, ss1713487939, ss3639055172, ss3639532846, ss3643068477, ss3847522763 NC_000015.8:46546582:G:T NC_000015.10:48467093:G:T (self)
66435710, 36878221, 26122166, 3845761, 181269692, 16470600, 39202875, 14186934, 17207253, 34883557, 9279210, 36878221, 8203978, ss226880128, ss236768992, ss243157472, ss537272181, ss564466780, ss660186977, ss833004113, ss991761494, ss1080105816, ss1353367323, ss1427617979, ss1577599289, ss1632944971, ss1675939004, ss1808192802, ss1935165323, ss1968100428, ss2028361761, ss2156762856, ss2371249925, ss2628674831, ss2701231805, ss2934626350, ss3013243095, ss3351103976, ss3627355383, ss3638084170, ss3680383918, ss3740902069, ss3753054564, ss3787838794, ss3792851710, ss3797736189, ss3834222065, ss3882866577, ss3932025481 NC_000015.9:48759290:G:T NC_000015.10:48467093:G:T (self)
1258585, 32470634, 128924270, 414714355, ss2206575017, ss3028003941, ss3227000315, ss3650347706, ss3697844977, ss3818373009, ss3976092633 NC_000015.10:48467093:G:T NC_000015.10:48467093:G:T (self)
ss10793402 NT_010194.15:19548901:G:T NC_000015.10:48467093:G:T (self)
ss6587030, ss23999223, ss66588159, ss67374229, ss67755380, ss70823758, ss71405618, ss74924626, ss79194573, ss84348207, ss122383615, ss154316044, ss156509736, ss159492721, ss171910508, ss173807508 NT_010194.17:19549847:G:T NC_000015.10:48467093:G:T (self)
Help

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

3 citations for rs4774517
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
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