Name: rs595244
Published: September 21, 2022
License: Open Access

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.

rs595244

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr15:48548638 (GRCh38.p14) 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: C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.077128 (20415/264690, TOPMED)
T=0.077102 (10812/140230, GnomAD)
T=0.00004 (1/28258, 14KJPN) (+ 15 more)
T=0.08737 (2127/24344, ALFA)
T=0.00006 (1/16760, 8.3KJPN)
T=0.0554 (355/6404, 1000G_30x)
T=0.0567 (284/5008, 1000G)
T=0.0804 (360/4480, Estonian)
T=0.0976 (376/3854, ALSPAC)
T=0.1028 (381/3708, TWINSUK)
T=0.0666 (115/1726, HapMap)
T=0.080 (80/998, GoNL)
T=0.073 (44/600, NorthernSweden)
T=0.157 (34/216, Qatari)
C=0.47 (28/60, SGDP_PRJ)
T=0.07 (3/40, GENOME_DK)
C=0.5 (2/4, Siberian)
T=0.5 (2/4, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: FBN1 : Intron Variant
Publications: 1 citation
Genomic View: See rs on genome

ALFA Allele Frequency
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: 20230706150541

Population	Group	Sample Size	Ref Allele	Alt Allele
Total	Global	24344	C=0.91263	T=0.08737
European	Sub	18122	C=0.90128	T=0.09872
African	Sub	4114	C=0.9509	T=0.0491
African Others	Sub	148	C=0.932	T=0.068
African American	Sub	3966	C=0.9516	T=0.0484
Asian	Sub	124	C=1.000	T=0.000
East Asian	Sub	96	C=1.00	T=0.00
Other Asian	Sub	28	C=1.00	T=0.00
Latin American 1	Sub	168	C=0.923	T=0.077
Latin American 2	Sub	670	C=0.954	T=0.046
South Asian	Sub	98	C=0.87	T=0.13
Other	Sub	1048	C=0.9246	T=0.0754

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").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	C=0.922872	T=0.077128
gnomAD - Genomes	Global	Study-wide	140230	C=0.922898	T=0.077102
gnomAD - Genomes	European	Sub	75934	C=0.90820	T=0.09180
gnomAD - Genomes	African	Sub	42042	C=0.95343	T=0.04657
gnomAD - Genomes	American	Sub	13650	C=0.90579	T=0.09421
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	C=0.8721	T=0.1279
gnomAD - Genomes	East Asian	Sub	3134	C=0.9997	T=0.0003
gnomAD - Genomes	Other	Sub	2148	C=0.9204	T=0.0796
14KJPN	JAPANESE	Study-wide	28258	C=0.99996	T=0.00004
Allele Frequency Aggregator	Total	Global	24344	C=0.91263	T=0.08737
Allele Frequency Aggregator	European	Sub	18122	C=0.90128	T=0.09872
Allele Frequency Aggregator	African	Sub	4114	C=0.9509	T=0.0491
Allele Frequency Aggregator	Other	Sub	1048	C=0.9246	T=0.0754
Allele Frequency Aggregator	Latin American 2	Sub	670	C=0.954	T=0.046
Allele Frequency Aggregator	Latin American 1	Sub	168	C=0.923	T=0.077
Allele Frequency Aggregator	Asian	Sub	124	C=1.000	T=0.000
Allele Frequency Aggregator	South Asian	Sub	98	C=0.87	T=0.13
8.3KJPN	JAPANESE	Study-wide	16760	C=0.99994	T=0.00006
1000Genomes_30x	Global	Study-wide	6404	C=0.9446	T=0.0554
1000Genomes_30x	African	Sub	1786	C=0.9569	T=0.0431
1000Genomes_30x	Europe	Sub	1266	C=0.9013	T=0.0987
1000Genomes_30x	South Asian	Sub	1202	C=0.9193	T=0.0807
1000Genomes_30x	East Asian	Sub	1170	C=1.0000	T=0.0000
1000Genomes_30x	American	Sub	980	C=0.943	T=0.057
1000Genomes	Global	Study-wide	5008	C=0.9433	T=0.0567
1000Genomes	African	Sub	1322	C=0.9539	T=0.0461
1000Genomes	East Asian	Sub	1008	C=1.0000	T=0.0000
1000Genomes	Europe	Sub	1006	C=0.8936	T=0.1064
1000Genomes	South Asian	Sub	978	C=0.922	T=0.078
1000Genomes	American	Sub	694	C=0.942	T=0.058
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.9196	T=0.0804
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.9024	T=0.0976
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.8972	T=0.1028
HapMap	Global	Study-wide	1726	C=0.9334	T=0.0666
HapMap	American	Sub	768	C=0.935	T=0.065
HapMap	African	Sub	692	C=0.944	T=0.056
HapMap	Europe	Sub	176	C=0.852	T=0.148
HapMap	Asian	Sub	90	C=1.00	T=0.00
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.920	T=0.080
Northern Sweden	ACPOP	Study-wide	600	C=0.927	T=0.073
Qatari	Global	Study-wide	216	C=0.843	T=0.157
SGDP_PRJ	Global	Study-wide	60	C=0.47	T=0.53
The Danish reference pan genome	Danish	Study-wide	40	C=0.93	T=0.07
Siberian	Global	Study-wide	4	C=0.5	T=0.5

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.p14 chr 15	NC_000015.10:g.48548638C>T
GRCh37.p13 chr 15	NC_000015.9:g.48840835C>T
FBN1 RefSeqGene (LRG_778)	NG_008805.2:g.102151G>A

Gene: FBN1, fibrillin 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
FBN1 transcript variant 1	NM_000138.5:c.539-10830G>A	N/A	Intron Variant

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

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	C=	T
GRCh38.p14 chr 15	NC_000015.10:g.48548638=	NC_000015.10:g.48548638C>T
GRCh37.p13 chr 15	NC_000015.9:g.48840835=	NC_000015.9:g.48840835C>T
FBN1 RefSeqGene (LRG_778)	NG_008805.2:g.102151=	NG_008805.2:g.102151G>A
FBN1 transcript	NM_000138.4:c.539-10830=	NM_000138.4:c.539-10830G>A
FBN1 transcript variant 1	NM_000138.5:c.539-10830=	NM_000138.5:c.539-10830G>A

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#.

49 SubSNP, 17 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_JCM	ss767101	Aug 11, 2000 (83)
2	ABI	ss43696916	Mar 13, 2006 (126)
3	ILLUMINA	ss75091245	Dec 07, 2007 (129)
4	KRIBB_YJKIM	ss119359487	Dec 01, 2009 (131)
5	COMPLETE_GENOMICS	ss171059583	Jul 04, 2010 (132)
6	ILLUMINA	ss173947576	Jul 04, 2010 (132)
7	1000GENOMES	ss236769133	Jul 15, 2010 (132)
8	ILLUMINA	ss537323271	Sep 08, 2015 (146)
9	TISHKOFF	ss564467054	Apr 25, 2013 (138)
10	SSMP	ss660187288	Apr 25, 2013 (138)
11	EVA-GONL	ss991761998	Aug 21, 2014 (142)
12	JMKIDD_LAB	ss1080106168	Aug 21, 2014 (142)
13	1000GENOMES	ss1353369389	Aug 21, 2014 (142)
14	DDI	ss1427618052	Apr 01, 2015 (144)
15	EVA_GENOME_DK	ss1577599458	Apr 01, 2015 (144)
16	EVA_UK10K_ALSPAC	ss1632946095	Apr 01, 2015 (144)
17	EVA_UK10K_TWINSUK	ss1675940128	Apr 01, 2015 (144)
18	EVA_DECODE	ss1695778222	Apr 01, 2015 (144)
19	EVA_SVP	ss1713487986	Apr 01, 2015 (144)
20	WEILL_CORNELL_DGM	ss1935165802	Feb 12, 2016 (147)
21	JJLAB	ss2028362013	Sep 14, 2016 (149)
22	USC_VALOUEV	ss2156763107	Dec 20, 2016 (150)
23	HUMAN_LONGEVITY	ss2206579398	Dec 20, 2016 (150)
24	GNOMAD	ss2934632258	Nov 08, 2017 (151)
25	SWEGEN	ss3013243880	Nov 08, 2017 (151)
26	BIOINF_KMB_FNS_UNIBA	ss3028004053	Nov 08, 2017 (151)
27	CSHL	ss3351104147	Nov 08, 2017 (151)
28	ILLUMINA	ss3627355523	Oct 12, 2018 (152)
29	ILLUMINA	ss3638084210	Oct 12, 2018 (152)
30	ILLUMINA	ss3643068519	Oct 12, 2018 (152)
31	EGCUT_WGS	ss3680384816	Jul 13, 2019 (153)
32	EVA_DECODE	ss3697845856	Jul 13, 2019 (153)
33	ACPOP	ss3740902475	Jul 13, 2019 (153)
34	KHV_HUMAN_GENOMES	ss3818373577	Jul 13, 2019 (153)
35	EVA	ss3834222266	Apr 27, 2020 (154)
36	SGDP_PRJ	ss3882867568	Apr 27, 2020 (154)
37	EVA	ss4017700564	Apr 27, 2021 (155)
38	TOPMED	ss4990544661	Apr 27, 2021 (155)
39	TOMMO_GENOMICS	ss5216083489	Apr 27, 2021 (155)
40	1000G_HIGH_COVERAGE	ss5298359407	Oct 16, 2022 (156)
41	EVA	ss5419087859	Oct 16, 2022 (156)
42	HUGCELL_USP	ss5492097106	Oct 16, 2022 (156)
43	EVA	ss5511420824	Oct 16, 2022 (156)
44	1000G_HIGH_COVERAGE	ss5599722103	Oct 16, 2022 (156)
45	SANFORD_IMAGENETICS	ss5657463078	Oct 16, 2022 (156)
46	TOMMO_GENOMICS	ss5769858207	Oct 16, 2022 (156)
47	EVA	ss5828169999	Oct 16, 2022 (156)
48	EVA	ss5875781340	Oct 16, 2022 (156)
49	EVA	ss5948861584	Oct 16, 2022 (156)
50	1000Genomes	NC_000015.9 - 48840835	Oct 12, 2018 (152)
51	1000Genomes_30x	NC_000015.10 - 48548638	Oct 16, 2022 (156)
52	The Avon Longitudinal Study of Parents and Children	NC_000015.9 - 48840835	Oct 12, 2018 (152)
53	Genetic variation in the Estonian population	NC_000015.9 - 48840835	Oct 12, 2018 (152)
54	The Danish reference pan genome	NC_000015.9 - 48840835	Apr 27, 2020 (154)
55	gnomAD - Genomes	NC_000015.10 - 48548638	Apr 27, 2021 (155)
56	Genome of the Netherlands Release 5	NC_000015.9 - 48840835	Apr 27, 2020 (154)
57	HapMap	NC_000015.10 - 48548638	Apr 27, 2020 (154)
58	Northern Sweden	NC_000015.9 - 48840835	Jul 13, 2019 (153)
59	Qatari	NC_000015.9 - 48840835	Apr 27, 2020 (154)
60	SGDP_PRJ	NC_000015.9 - 48840835	Apr 27, 2020 (154)
61	Siberian	NC_000015.9 - 48840835	Apr 27, 2020 (154)
62	8.3KJPN	NC_000015.9 - 48840835	Apr 27, 2021 (155)
63	14KJPN	NC_000015.10 - 48548638	Oct 16, 2022 (156)
64	TopMed	NC_000015.10 - 48548638	Apr 27, 2021 (155)
65	UK 10K study - Twins	NC_000015.9 - 48840835	Oct 12, 2018 (152)
66	ALFA	NC_000015.10 - 48548638	Apr 27, 2021 (155)

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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss171059583, ss1695778222, ss1713487986, ss3643068519	NC_000015.8:46628126:C:T	NC_000015.10:48548637:C:T	(self)
66437845, 36879434, 26123064, 3845927, 16471097, 14187340, 17207732, 34884548, 9279461, 74052796, 36879434, ss236769133, ss537323271, ss564467054, ss660187288, ss991761998, ss1080106168, ss1353369389, ss1427618052, ss1577599458, ss1632946095, ss1675940128, ss1935165802, ss2028362013, ss2156763107, ss2934632258, ss3013243880, ss3351104147, ss3627355523, ss3638084210, ss3680384816, ss3740902475, ss3834222266, ss3882867568, ss4017700564, ss5216083489, ss5419087859, ss5511420824, ss5657463078, ss5828169999, ss5948861584	NC_000015.9:48840834:C:T	NC_000015.10:48548637:C:T	(self)
87248038, 468373435, 1258718, 103695311, 206090321, 13743251279, ss2206579398, ss3028004053, ss3697845856, ss3818373577, ss4990544661, ss5298359407, ss5492097106, ss5599722103, ss5769858207, ss5875781340	NC_000015.10:48548637:C:T	NC_000015.10:48548637:C:T	(self)
ss767101, ss43696916, ss75091245, ss119359487, ss173947576	NT_010194.17:19631391:C:T	NC_000015.10:48548637:C:T	(self)

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

1 citation for rs595244

PMID	Title	Author	Year	Journal
27418160	Shared Genetic Risk Factors of Intracranial, Abdominal, and Thoracic Aneurysms.	van 't Hof FN et al.	2016	Journal of the American Heart Association

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.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs595244