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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.

rs755251

Current Build 154

Released April 21, 2020

Organism
Homo sapiens
Position
chr15:48519823 (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 / A>T
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.357575 (44900/125568, TOPMED)
G=0.254752 (30636/120258, ALFA Project)
G=0.34996 (10965/31332, GnomAD) (+ 15 more)
G=0.3812 (1909/5008, 1000G)
G=0.2687 (1204/4480, Estonian)
G=0.2525 (973/3854, ALSPAC)
G=0.2454 (910/3708, TWINSUK)
G=0.4167 (1221/2930, KOREAN)
G=0.3378 (704/2084, HGDP_Stanford)
G=0.4228 (799/1890, HapMap)
G=0.4050 (742/1832, Korea1K)
G=0.244 (244/998, GoNL)
G=0.245 (147/600, NorthernSweden)
A=0.367 (110/300, SGDP_PRJ)
G=0.333 (72/216, Qatari)
G=0.294 (63/214, Vietnamese)
G=0.20 (8/40, GENOME_DK)
A=0.43 (13/30, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
FBN1 : Intron Variant
Publications
2 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.48519823A>G
GRCh38.p12 chr 15 NC_000015.10:g.48519823A>T
GRCh37.p13 chr 15 NC_000015.9:g.48812020A>G
GRCh37.p13 chr 15 NC_000015.9:g.48812020A>T
FBN1 RefSeqGene (LRG_778) NG_008805.2:g.130966T>C
FBN1 RefSeqGene (LRG_778) NG_008805.2:g.130966T>A
Gene: FBN1, fibrillin 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
FBN1 transcript NM_000138.5:c.1147+836T>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 120258 A=0.745248 G=0.254752
European Sub 107546 A=0.754905 G=0.245095
African Sub 3288 A=0.4331 G=0.5669
African Others Sub 122 A=0.336 G=0.664
African American Sub 3166 A=0.4368 G=0.5632
Asian Sub 262 A=0.656 G=0.344
East Asian Sub 182 A=0.621 G=0.379
Other Asian Sub 80 A=0.74 G=0.26
Latin American 1 Sub 502 A=0.629 G=0.371
Latin American 2 Sub 1372 A=0.7434 G=0.2566
South Asian Sub 4894 A=0.7906 G=0.2094
Other Sub 2394 A=0.6825 G=0.3175


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=0.642425 G=0.357575
ALFA Total Global 120258 A=0.745248 G=0.254752
ALFA European Sub 107546 A=0.754905 G=0.245095
ALFA South Asian Sub 4894 A=0.7906 G=0.2094
ALFA African Sub 3288 A=0.4331 G=0.5669
ALFA Other Sub 2394 A=0.6825 G=0.3175
ALFA Latin American 2 Sub 1372 A=0.7434 G=0.2566
ALFA Latin American 1 Sub 502 A=0.629 G=0.371
ALFA Asian Sub 262 A=0.656 G=0.344
gnomAD - Genomes Global Study-wide 31332 A=0.65004 G=0.34996
gnomAD - Genomes European Sub 18882 A=0.74372 G=0.25628
gnomAD - Genomes African Sub 8680 A=0.4237 G=0.5763
gnomAD - Genomes East Asian Sub 1550 A=0.6645 G=0.3355
gnomAD - Genomes Other Sub 1084 A=0.6928 G=0.3072
gnomAD - Genomes American Sub 846 A=0.758 G=0.242
gnomAD - Genomes Ashkenazi Jewish Sub 290 A=0.772 G=0.228
1000Genomes Global Study-wide 5008 A=0.6188 G=0.3812
1000Genomes African Sub 1322 A=0.3449 G=0.6551
1000Genomes East Asian Sub 1008 A=0.6478 G=0.3522
1000Genomes Europe Sub 1006 A=0.7435 G=0.2565
1000Genomes South Asian Sub 978 A=0.749 G=0.251
1000Genomes American Sub 694 A=0.733 G=0.267
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.7312 G=0.2687
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.7475 G=0.2525
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.7546 G=0.2454
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.5833 G=0.4167
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 A=0.6622 G=0.3378
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 A=0.585 G=0.415
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 A=0.734 G=0.266
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 A=0.763 G=0.237
HGDP-CEPH-db Supplement 1 Europe Sub 320 A=0.744 G=0.256
HGDP-CEPH-db Supplement 1 Africa Sub 242 A=0.413 G=0.587
HGDP-CEPH-db Supplement 1 America Sub 216 A=0.676 G=0.324
HGDP-CEPH-db Supplement 1 Oceania Sub 72 A=0.69 G=0.31
HapMap Global Study-wide 1890 A=0.5772 G=0.4228
HapMap American Sub 768 A=0.684 G=0.316
HapMap African Sub 692 A=0.429 G=0.571
HapMap Asian Sub 254 A=0.531 G=0.469
HapMap Europe Sub 176 A=0.761 G=0.239
Korean Genome Project KOREAN Study-wide 1832 A=0.5950 G=0.4050
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.756 G=0.244
Northern Sweden ACPOP Study-wide 600 A=0.755 G=0.245
SGDP_PRJ Global Study-wide 300 A=0.367 G=0.633
Qatari Global Study-wide 216 A=0.667 G=0.333
A Vietnamese Genetic Variation Database Global Study-wide 214 A=0.706 G=0.294
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= G T
GRCh38.p12 chr 15 NC_000015.10:g.48519823= NC_000015.10:g.48519823A>G NC_000015.10:g.48519823A>T
GRCh37.p13 chr 15 NC_000015.9:g.48812020= NC_000015.9:g.48812020A>G NC_000015.9:g.48812020A>T
FBN1 RefSeqGene (LRG_778) NG_008805.2:g.130966= NG_008805.2:g.130966T>C NG_008805.2:g.130966T>A
FBN1 transcript NM_000138.4:c.1147+836= NM_000138.4:c.1147+836T>C NM_000138.4:c.1147+836T>A
FBN1 transcript NM_000138.5:c.1147+836= NM_000138.5:c.1147+836T>C NM_000138.5:c.1147+836T>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#.

100 SubSNP, 18 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss109321 Oct 05, 2000 (86)
2 BCM_SSAHASNP ss10774969 Jul 11, 2003 (116)
3 CSHL-HAPMAP ss16669217 Feb 27, 2004 (120)
4 PERLEGEN ss23431082 Sep 20, 2004 (123)
5 ABI ss43709837 Mar 14, 2006 (126)
6 ILLUMINA ss66787514 Dec 01, 2006 (127)
7 ILLUMINA ss67797441 Dec 01, 2006 (127)
8 ILLUMINA ss67970734 Dec 01, 2006 (127)
9 ILLUMINA ss70933148 May 25, 2008 (130)
10 ILLUMINA ss71535237 May 18, 2007 (127)
11 ILLUMINA ss75803133 Dec 07, 2007 (129)
12 ILLUMINA ss79260296 Dec 15, 2007 (130)
13 HGSV ss80702112 Dec 15, 2007 (130)
14 KRIBB_YJKIM ss83551394 Dec 15, 2007 (130)
15 HGSV ss84338197 Dec 15, 2007 (130)
16 HUMANGENOME_JCVI ss96809279 Feb 05, 2009 (130)
17 1000GENOMES ss114138333 Jan 25, 2009 (130)
18 ILLUMINA-UK ss118217248 Feb 14, 2009 (130)
19 ILLUMINA ss122776359 Dec 01, 2009 (131)
20 ENSEMBL ss136910899 Dec 01, 2009 (131)
21 ILLUMINA ss154429612 Dec 01, 2009 (131)
22 GMI ss156510176 Dec 01, 2009 (131)
23 ILLUMINA ss159604720 Dec 01, 2009 (131)
24 ILLUMINA ss160887639 Dec 01, 2009 (131)
25 COMPLETE_GENOMICS ss169380380 Jul 04, 2010 (132)
26 COMPLETE_GENOMICS ss171059440 Jul 04, 2010 (132)
27 ILLUMINA ss172304961 Jul 04, 2010 (132)
28 ILLUMINA ss174413490 Jul 04, 2010 (132)
29 BUSHMAN ss200813902 Jul 04, 2010 (132)
30 1000GENOMES ss226880282 Jul 14, 2010 (132)
31 1000GENOMES ss236769084 Jul 15, 2010 (132)
32 1000GENOMES ss243157570 Jul 15, 2010 (132)
33 GMI ss282245453 May 04, 2012 (137)
34 PJP ss291715441 May 09, 2011 (134)
35 ILLUMINA ss481591870 May 04, 2012 (137)
36 ILLUMINA ss481621849 May 04, 2012 (137)
37 ILLUMINA ss482591716 Sep 08, 2015 (146)
38 ILLUMINA ss485590875 May 04, 2012 (137)
39 ILLUMINA ss537481455 Sep 08, 2015 (146)
40 TISHKOFF ss564466957 Apr 25, 2013 (138)
41 SSMP ss660187184 Apr 25, 2013 (138)
42 ILLUMINA ss778605978 Sep 08, 2015 (146)
43 ILLUMINA ss783241036 Sep 08, 2015 (146)
44 ILLUMINA ss784194856 Sep 08, 2015 (146)
45 ILLUMINA ss825590814 Jul 19, 2016 (147)
46 ILLUMINA ss832501612 Sep 08, 2015 (146)
47 ILLUMINA ss833115710 Jul 13, 2019 (153)
48 ILLUMINA ss834063329 Sep 08, 2015 (146)
49 EVA-GONL ss991761827 Aug 21, 2014 (142)
50 JMKIDD_LAB ss1080106063 Aug 21, 2014 (142)
51 1000GENOMES ss1353368668 Aug 21, 2014 (142)
52 DDI ss1427618035 Apr 01, 2015 (144)
53 EVA_GENOME_DK ss1577599407 Apr 01, 2015 (144)
54 EVA_UK10K_ALSPAC ss1632945706 Apr 01, 2015 (144)
55 EVA_UK10K_TWINSUK ss1675939739 Apr 01, 2015 (144)
56 EVA_DECODE ss1695778057 Apr 01, 2015 (144)
57 EVA_SVP ss1713487971 Apr 01, 2015 (144)
58 ILLUMINA ss1752162032 Sep 08, 2015 (146)
59 HAMMER_LAB ss1808192921 Sep 08, 2015 (146)
60 WEILL_CORNELL_DGM ss1935165610 Feb 12, 2016 (147)
61 GENOMED ss1968100508 Jul 19, 2016 (147)
62 JJLAB ss2028361941 Sep 14, 2016 (149)
63 USC_VALOUEV ss2156763015 Dec 20, 2016 (150)
64 HUMAN_LONGEVITY ss2206577798 Dec 20, 2016 (150)
65 TOPMED ss2371252748 Dec 20, 2016 (150)
66 SYSTEMSBIOZJU ss2628674913 Nov 08, 2017 (151)
67 ILLUMINA ss2633225836 Nov 08, 2017 (151)
68 GRF ss2701231990 Nov 08, 2017 (151)
69 GNOMAD ss2934630146 Nov 08, 2017 (151)
70 SWEGEN ss3013243612 Nov 08, 2017 (151)
71 BIOINF_KMB_FNS_UNIBA ss3028004015 Nov 08, 2017 (151)
72 TOPMED ss3227008840 Nov 08, 2017 (151)
73 TOPMED ss3227008841 Nov 08, 2017 (151)
74 CSHL ss3351104096 Nov 08, 2017 (151)
75 ILLUMINA ss3627355482 Oct 12, 2018 (152)
76 ILLUMINA ss3631219108 Oct 12, 2018 (152)
77 ILLUMINA ss3633096552 Oct 12, 2018 (152)
78 ILLUMINA ss3633801132 Oct 12, 2018 (152)
79 ILLUMINA ss3634605600 Oct 12, 2018 (152)
80 ILLUMINA ss3635490065 Oct 12, 2018 (152)
81 ILLUMINA ss3636295507 Oct 12, 2018 (152)
82 ILLUMINA ss3637241334 Oct 12, 2018 (152)
83 ILLUMINA ss3638084200 Oct 12, 2018 (152)
84 ILLUMINA ss3639055179 Oct 12, 2018 (152)
85 ILLUMINA ss3639532847 Oct 12, 2018 (152)
86 ILLUMINA ss3640312921 Oct 12, 2018 (152)
87 ILLUMINA ss3643068508 Oct 12, 2018 (152)
88 URBANLAB ss3650347778 Oct 12, 2018 (152)
89 EGCUT_WGS ss3680384508 Jul 13, 2019 (153)
90 EVA_DECODE ss3697845561 Jul 13, 2019 (153)
91 ACPOP ss3740902336 Jul 13, 2019 (153)
92 ILLUMINA ss3744906134 Jul 13, 2019 (153)
93 EVA ss3753054954 Jul 13, 2019 (153)
94 ILLUMINA ss3772404787 Jul 13, 2019 (153)
95 KHV_HUMAN_GENOMES ss3818373368 Jul 13, 2019 (153)
96 EVA ss3834222199 Apr 27, 2020 (154)
97 HGDP ss3847522772 Apr 27, 2020 (154)
98 SGDP_PRJ ss3882867220 Apr 27, 2020 (154)
99 KRGDB ss3932026194 Apr 27, 2020 (154)
100 KOGIC ss3976093269 Apr 27, 2020 (154)
101 1000Genomes NC_000015.9 - 48812020 Oct 12, 2018 (152)
102 The Avon Longitudinal Study of Parents and Children NC_000015.9 - 48812020 Oct 12, 2018 (152)
103 Genetic variation in the Estonian population NC_000015.9 - 48812020 Oct 12, 2018 (152)
104 The Danish reference pan genome NC_000015.9 - 48812020 Apr 27, 2020 (154)
105 gnomAD - Genomes NC_000015.9 - 48812020 Jul 13, 2019 (153)
106 Genome of the Netherlands Release 5 NC_000015.9 - 48812020 Apr 27, 2020 (154)
107 HGDP-CEPH-db Supplement 1 NC_000015.8 - 46599312 Apr 27, 2020 (154)
108 HapMap NC_000015.10 - 48519823 Apr 27, 2020 (154)
109 KOREAN population from KRGDB NC_000015.9 - 48812020 Apr 27, 2020 (154)
110 Korean Genome Project NC_000015.10 - 48519823 Apr 27, 2020 (154)
111 Northern Sweden NC_000015.9 - 48812020 Jul 13, 2019 (153)
112 Qatari NC_000015.9 - 48812020 Apr 27, 2020 (154)
113 SGDP_PRJ NC_000015.9 - 48812020 Apr 27, 2020 (154)
114 Siberian NC_000015.9 - 48812020 Apr 27, 2020 (154)
115 TopMed NC_000015.10 - 48519823 Oct 12, 2018 (152)
116 UK 10K study - Twins NC_000015.9 - 48812020 Oct 12, 2018 (152)
117 A Vietnamese Genetic Variation Database NC_000015.9 - 48812020 Jul 13, 2019 (153)
118 dbGaP Population Frequency Project NC_000015.10 - 48519823 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)
rs59726771 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
200664, ss80702112, ss84338197, ss114138333, ss118217248, ss169380380, ss171059440, ss200813902, ss282245453, ss291715441, ss481591870, ss825590814, ss1695778057, ss1713487971, ss3639055179, ss3639532847, ss3643068508, ss3847522772 NC_000015.8:46599311:A:G NC_000015.10:48519822:A:G (self)
66437095, 36879004, 26122756, 3845877, 181273473, 16470926, 39203588, 14187201, 17207540, 34884200, 9279369, 36879004, 8204129, ss226880282, ss236769084, ss243157570, ss481621849, ss482591716, ss485590875, ss537481455, ss564466957, ss660187184, ss778605978, ss783241036, ss784194856, ss832501612, ss833115710, ss834063329, ss991761827, ss1080106063, ss1353368668, ss1427618035, ss1577599407, ss1632945706, ss1675939739, ss1752162032, ss1808192921, ss1935165610, ss1968100508, ss2028361941, ss2156763015, ss2371252748, ss2628674913, ss2633225836, ss2701231990, ss2934630146, ss3013243612, ss3351104096, ss3627355482, ss3631219108, ss3633096552, ss3633801132, ss3634605600, ss3635490065, ss3636295507, ss3637241334, ss3638084200, ss3640312921, ss3680384508, ss3740902336, ss3744906134, ss3753054954, ss3772404787, ss3834222199, ss3882867220, ss3932026194 NC_000015.9:48812019:A:G NC_000015.10:48519822:A:G (self)
1258683, 32471270, 128931778, 821579972, ss2206577798, ss3028004015, ss3227008840, ss3650347778, ss3697845561, ss3818373368, ss3976093269 NC_000015.10:48519822:A:G NC_000015.10:48519822:A:G (self)
ss10774969 NT_010194.15:19601630:A:G NC_000015.10:48519822:A:G (self)
ss16669217 NT_010194.16:19602576:A:G NC_000015.10:48519822:A:G (self)
ss109321, ss23431082, ss43709837, ss66787514, ss67797441, ss67970734, ss70933148, ss71535237, ss75803133, ss79260296, ss83551394, ss96809279, ss122776359, ss136910899, ss154429612, ss156510176, ss159604720, ss160887639, ss172304961, ss174413490 NT_010194.17:19602576:A:G NC_000015.10:48519822:A:G (self)
ss3227008841 NC_000015.10:48519822:A:T NC_000015.10:48519822: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 rs755251
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
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