Name: rs9550381
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.

rs9550381

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr13:28630180 (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: G>A / G>C
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.238033 (63005/264690, TOPMED)
A=0.241199 (33749/139922, GnomAD)
A=0.25273 (4774/18890, ALFA) (+ 14 more)
A=0.2334 (1495/6404, 1000G_30x)
A=0.2326 (1165/5008, 1000G)
A=0.2647 (1186/4480, Estonian)
A=0.2732 (1053/3854, ALSPAC)
A=0.2767 (1026/3708, TWINSUK)
A=0.2290 (671/2930, KOREAN)
A=0.1992 (365/1832, Korea1K)
A=0.277 (276/998, GoNL)
A=0.298 (179/600, NorthernSweden)
G=0.392 (94/240, SGDP_PRJ)
A=0.204 (44/216, Qatari)
A=0.193 (41/212, Vietnamese)
A=0.25 (10/40, GENOME_DK)
G=0.44 (7/16, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: None
Publications: 0 citations
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	18890	G=0.74727	A=0.25273
European	Sub	14286	G=0.73961	A=0.26039
African	Sub	2946	G=0.7733	A=0.2267
African Others	Sub	114	G=0.772	A=0.228
African American	Sub	2832	G=0.7733	A=0.2267
Asian	Sub	112	G=0.857	A=0.143
East Asian	Sub	86	G=0.88	A=0.12
Other Asian	Sub	26	G=0.77	A=0.23
Latin American 1	Sub	146	G=0.801	A=0.199
Latin American 2	Sub	610	G=0.780	A=0.220
South Asian	Sub	98	G=0.73	A=0.27
Other	Sub	692	G=0.738	A=0.262

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	G=0.761967	A=0.238033
gnomAD - Genomes	Global	Study-wide	139922	G=0.758801	A=0.241199
gnomAD - Genomes	European	Sub	75816	G=0.73858	A=0.26142
gnomAD - Genomes	African	Sub	41886	G=0.77599	A=0.22401
gnomAD - Genomes	American	Sub	13626	G=0.78798	A=0.21202
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	G=0.8058	A=0.1942
gnomAD - Genomes	East Asian	Sub	3124	G=0.8278	A=0.1722
gnomAD - Genomes	Other	Sub	2148	G=0.7793	A=0.2207
Allele Frequency Aggregator	Total	Global	18890	G=0.74727	A=0.25273
Allele Frequency Aggregator	European	Sub	14286	G=0.73961	A=0.26039
Allele Frequency Aggregator	African	Sub	2946	G=0.7733	A=0.2267
Allele Frequency Aggregator	Other	Sub	692	G=0.738	A=0.262
Allele Frequency Aggregator	Latin American 2	Sub	610	G=0.780	A=0.220
Allele Frequency Aggregator	Latin American 1	Sub	146	G=0.801	A=0.199
Allele Frequency Aggregator	Asian	Sub	112	G=0.857	A=0.143
Allele Frequency Aggregator	South Asian	Sub	98	G=0.73	A=0.27
1000Genomes_30x	Global	Study-wide	6404	G=0.7666	A=0.2334
1000Genomes_30x	African	Sub	1786	G=0.7648	A=0.2352
1000Genomes_30x	Europe	Sub	1266	G=0.7646	A=0.2354
1000Genomes_30x	South Asian	Sub	1202	G=0.6714	A=0.3286
1000Genomes_30x	East Asian	Sub	1170	G=0.8214	A=0.1786
1000Genomes_30x	American	Sub	980	G=0.823	A=0.177
1000Genomes	Global	Study-wide	5008	G=0.7674	A=0.2326
1000Genomes	African	Sub	1322	G=0.7648	A=0.2352
1000Genomes	East Asian	Sub	1008	G=0.8204	A=0.1796
1000Genomes	Europe	Sub	1006	G=0.7654	A=0.2346
1000Genomes	South Asian	Sub	978	G=0.680	A=0.320
1000Genomes	American	Sub	694	G=0.821	A=0.179
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.7353	A=0.2647
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.7268	A=0.2732
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.7233	A=0.2767
KOREAN population from KRGDB	KOREAN	Study-wide	2930	G=0.7710	A=0.2290
Korean Genome Project	KOREAN	Study-wide	1832	G=0.8008	A=0.1992
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.723	A=0.277
Northern Sweden	ACPOP	Study-wide	600	G=0.702	A=0.298
SGDP_PRJ	Global	Study-wide	240	G=0.392	A=0.608
Qatari	Global	Study-wide	216	G=0.796	A=0.204
A Vietnamese Genetic Variation Database	Global	Study-wide	212	G=0.807	A=0.193
The Danish reference pan genome	Danish	Study-wide	40	G=0.75	A=0.25
Siberian	Global	Study-wide	16	G=0.44	A=0.56

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 13	NC_000013.11:g.28630180G>A
GRCh38.p14 chr 13	NC_000013.11:g.28630180G>C
GRCh37.p13 chr 13	NC_000013.10:g.29204317G>A
GRCh37.p13 chr 13	NC_000013.10:g.29204317G>C

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	G=	A	C
GRCh38.p14 chr 13	NC_000013.11:g.28630180=	NC_000013.11:g.28630180G>A	NC_000013.11:g.28630180G>C
GRCh37.p13 chr 13	NC_000013.10:g.29204317=	NC_000013.10:g.29204317G>A	NC_000013.10:g.29204317G>C

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#.

54 SubSNP, 21 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_SNP	ss13254276	Dec 05, 2003 (119)
2	1000GENOMES	ss112647417	Jan 25, 2009 (130)
3	COMPLETE_GENOMICS	ss170932016	Jul 04, 2010 (132)
4	BCM-HGSC-SUB	ss208740611	Jul 04, 2010 (132)
5	1000GENOMES	ss226099295	Jul 14, 2010 (132)
6	1000GENOMES	ss236190573	Jul 15, 2010 (132)
7	1000GENOMES	ss242698075	Jul 15, 2010 (132)
8	GMI	ss281653076	May 04, 2012 (137)
9	TISHKOFF	ss563571635	Apr 25, 2013 (138)
10	SSMP	ss659167422	Apr 25, 2013 (138)
11	EVA-GONL	ss990228462	Aug 21, 2014 (142)
12	JMKIDD_LAB	ss1078963754	Aug 21, 2014 (142)
13	1000GENOMES	ss1347619956	Aug 21, 2014 (142)
14	DDI	ss1427140528	Apr 01, 2015 (144)
15	EVA_GENOME_DK	ss1576695100	Apr 01, 2015 (144)
16	EVA_UK10K_ALSPAC	ss1629957339	Apr 01, 2015 (144)
17	EVA_DECODE	ss1642333034	Apr 01, 2015 (144)
18	EVA_UK10K_TWINSUK	ss1672951372	Apr 01, 2015 (144)
19	WEILL_CORNELL_DGM	ss1933597423	Feb 12, 2016 (147)
20	JJLAB	ss2027554387	Sep 14, 2016 (149)
21	USC_VALOUEV	ss2155919119	Dec 20, 2016 (150)
22	HUMAN_LONGEVITY	ss2195103057	Dec 20, 2016 (150)
23	GRF	ss2700291270	Nov 08, 2017 (151)
24	GNOMAD	ss2917944701	Nov 08, 2017 (151)
25	SWEGEN	ss3010774406	Nov 08, 2017 (151)
26	BIOINF_KMB_FNS_UNIBA	ss3027592736	Nov 08, 2017 (151)
27	CSHL	ss3350381992	Nov 08, 2017 (151)
28	EGCUT_WGS	ss3678035148	Jul 13, 2019 (153)
29	EVA_DECODE	ss3694991647	Jul 13, 2019 (153)
30	ACPOP	ss3739612546	Jul 13, 2019 (153)
31	EVA	ss3751275955	Jul 13, 2019 (153)
32	KHV_HUMAN_GENOMES	ss3816606947	Jul 13, 2019 (153)
33	EVA	ss3833466958	Apr 27, 2020 (154)
34	EVA	ss3840310681	Apr 27, 2020 (154)
35	EVA	ss3845795423	Apr 27, 2020 (154)
36	SGDP_PRJ	ss3879660942	Apr 27, 2020 (154)
37	KRGDB	ss3928482401	Apr 27, 2020 (154)
38	KOGIC	ss3973268423	Apr 27, 2020 (154)
39	TOPMED	ss4940999497	Apr 26, 2021 (155)
40	TOMMO_GENOMICS	ss5209316994	Apr 26, 2021 (155)
41	TOMMO_GENOMICS	ss5209316995	Apr 26, 2021 (155)
42	1000G_HIGH_COVERAGE	ss5293208724	Oct 16, 2022 (156)
43	EVA	ss5409805976	Oct 16, 2022 (156)
44	HUGCELL_USP	ss5487624830	Oct 16, 2022 (156)
45	EVA	ss5510918792	Oct 16, 2022 (156)
46	1000G_HIGH_COVERAGE	ss5591893402	Oct 16, 2022 (156)
47	SANFORD_IMAGENETICS	ss5654466677	Oct 16, 2022 (156)
48	TOMMO_GENOMICS	ss5760998663	Oct 16, 2022 (156)
49	TOMMO_GENOMICS	ss5760998664	Oct 16, 2022 (156)
50	YY_MCH	ss5813978967	Oct 16, 2022 (156)
51	EVA	ss5839266822	Oct 16, 2022 (156)
52	EVA	ss5850661950	Oct 16, 2022 (156)
53	EVA	ss5924497545	Oct 16, 2022 (156)
54	EVA	ss5945873079	Oct 16, 2022 (156)
55	1000Genomes	NC_000013.10 - 29204317	Oct 12, 2018 (152)
56	1000Genomes_30x	NC_000013.11 - 28630180	Oct 16, 2022 (156)
57	The Avon Longitudinal Study of Parents and Children	NC_000013.10 - 29204317	Oct 12, 2018 (152)
58	Genetic variation in the Estonian population	NC_000013.10 - 29204317	Oct 12, 2018 (152)
59	The Danish reference pan genome	NC_000013.10 - 29204317	Apr 27, 2020 (154)
60	gnomAD - Genomes	NC_000013.11 - 28630180	Apr 26, 2021 (155)
61	Genome of the Netherlands Release 5	NC_000013.10 - 29204317	Apr 27, 2020 (154)
62	KOREAN population from KRGDB	NC_000013.10 - 29204317	Apr 27, 2020 (154)
63	Korean Genome Project	NC_000013.11 - 28630180	Apr 27, 2020 (154)
64	Northern Sweden	NC_000013.10 - 29204317	Jul 13, 2019 (153)
65	Qatari	NC_000013.10 - 29204317	Apr 27, 2020 (154)
66	SGDP_PRJ	NC_000013.10 - 29204317	Apr 27, 2020 (154)
67	Siberian	NC_000013.10 - 29204317	Apr 27, 2020 (154)
68	8.3KJPN Submission ignored due to conflicting rows: Row 67286301 (NC_000013.10:29204316:G:A 3997/16760) Row 67286302 (NC_000013.10:29204316:G:C 2/16760)	-	Apr 26, 2021 (155)
69	8.3KJPN Submission ignored due to conflicting rows: Row 67286301 (NC_000013.10:29204316:G:A 3997/16760) Row 67286302 (NC_000013.10:29204316:G:C 2/16760)	-	Apr 26, 2021 (155)
70	14KJPN Submission ignored due to conflicting rows: Row 94835767 (NC_000013.11:28630179:G:A 6716/28258) Row 94835768 (NC_000013.11:28630179:G:C 4/28258)	-	Oct 16, 2022 (156)
71	14KJPN Submission ignored due to conflicting rows: Row 94835767 (NC_000013.11:28630179:G:A 6716/28258) Row 94835768 (NC_000013.11:28630179:G:C 4/28258)	-	Oct 16, 2022 (156)
72	TopMed	NC_000013.11 - 28630180	Apr 26, 2021 (155)
73	UK 10K study - Twins	NC_000013.10 - 29204317	Oct 12, 2018 (152)
74	A Vietnamese Genetic Variation Database	NC_000013.10 - 29204317	Jul 13, 2019 (153)
75	ALFA	NC_000013.11 - 28630180	Apr 26, 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
ss112647417, ss170932016, ss208740611, ss281653076, ss1642333034	NC_000013.9:28102316:G:A	NC_000013.11:28630179:G:A	(self)
60468379, 33584193, 23773396, 3234486, 14984942, 35659795, 12897411, 15639353, 31677922, 8435473, 33584193, 7449631, ss226099295, ss236190573, ss242698075, ss563571635, ss659167422, ss990228462, ss1078963754, ss1347619956, ss1427140528, ss1576695100, ss1629957339, ss1672951372, ss1933597423, ss2027554387, ss2155919119, ss2700291270, ss2917944701, ss3010774406, ss3350381992, ss3678035148, ss3739612546, ss3751275955, ss3833466958, ss3840310681, ss3879660942, ss3928482401, ss5209316994, ss5409805976, ss5510918792, ss5654466677, ss5839266822, ss5945873079	NC_000013.10:29204316:G:A	NC_000013.11:28630179:G:A	(self)
79419337, 426387668, 29646424, 156545155, 6245928412, ss2195103057, ss3027592736, ss3694991647, ss3816606947, ss3845795423, ss3973268423, ss4940999497, ss5293208724, ss5487624830, ss5591893402, ss5760998663, ss5813978967, ss5850661950, ss5924497545	NC_000013.11:28630179:G:A	NC_000013.11:28630179:G:A	(self)
ss13254276	NT_009799.12:10184316:G:A	NC_000013.11:28630179:G:A	(self)
ss5209316995	NC_000013.10:29204316:G:C	NC_000013.11:28630179:G:C	(self)
ss5760998664	NC_000013.11:28630179:G:C	NC_000013.11:28630179:G:C

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

No publications for rs9550381

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

rs9550381