Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

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.

rs9550383

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr13:28636323 (GRCh38.p13) 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=0.165813 (43889/264690, TOPMED)
T=0.151437 (23026/152050, ALFA)
T=0.162068 (22710/140126, GnomAD) (+ 17 more)
T=0.33807 (5666/16760, 8.3KJPN)
T=0.2129 (1066/5008, 1000G)
T=0.2424 (1086/4480, Estonian)
T=0.1328 (512/3854, ALSPAC)
T=0.1462 (542/3708, TWINSUK)
T=0.3304 (968/2930, KOREAN)
T=0.2428 (506/2084, HGDP_Stanford)
T=0.1691 (320/1892, HapMap)
T=0.3537 (648/1832, Korea1K)
T=0.151 (151/998, GoNL)
T=0.195 (117/600, NorthernSweden)
C=0.366 (82/224, SGDP_PRJ)
T=0.153 (33/216, Qatari)
T=0.388 (83/214, Vietnamese)
T=0.06 (4/68, Ancient Sardinia)
T=0.20 (8/40, GENOME_DK)
C=0.33 (10/30, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
None
Publications
0 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.p13 chr 13 NC_000013.11:g.28636323C>T
GRCh37.p13 chr 13 NC_000013.10:g.29210460C>T
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
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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 152050 C=0.848563 T=0.151437
European Sub 128640 C=0.858955 T=0.141045
African Sub 9296 C=0.9136 T=0.0864
African Others Sub 326 C=0.933 T=0.067
African American Sub 8970 C=0.9129 T=0.0871
Asian Sub 630 C=0.662 T=0.338
East Asian Sub 498 C=0.655 T=0.345
Other Asian Sub 132 C=0.689 T=0.311
Latin American 1 Sub 750 C=0.796 T=0.204
Latin American 2 Sub 6268 C=0.5767 T=0.4233
South Asian Sub 184 C=0.821 T=0.179
Other Sub 6282 C=0.8365 T=0.1635


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 264690 C=0.834187 T=0.165813
Allele Frequency Aggregator Total Global 152050 C=0.848563 T=0.151437
Allele Frequency Aggregator European Sub 128640 C=0.858955 T=0.141045
Allele Frequency Aggregator African Sub 9296 C=0.9136 T=0.0864
Allele Frequency Aggregator Other Sub 6282 C=0.8365 T=0.1635
Allele Frequency Aggregator Latin American 2 Sub 6268 C=0.5767 T=0.4233
Allele Frequency Aggregator Latin American 1 Sub 750 C=0.796 T=0.204
Allele Frequency Aggregator Asian Sub 630 C=0.662 T=0.338
Allele Frequency Aggregator South Asian Sub 184 C=0.821 T=0.179
gnomAD - Genomes Global Study-wide 140126 C=0.837932 T=0.162068
gnomAD - Genomes European Sub 75866 C=0.82691 T=0.17309
gnomAD - Genomes African Sub 42020 C=0.91178 T=0.08822
gnomAD - Genomes American Sub 13638 C=0.70927 T=0.29073
gnomAD - Genomes Ashkenazi Jewish Sub 3324 C=0.8785 T=0.1215
gnomAD - Genomes East Asian Sub 3124 C=0.6434 T=0.3566
gnomAD - Genomes Other Sub 2154 C=0.8199 T=0.1801
8.3KJPN JAPANESE Study-wide 16760 C=0.66193 T=0.33807
1000Genomes Global Study-wide 5008 C=0.7871 T=0.2129
1000Genomes African Sub 1322 C=0.9372 T=0.0628
1000Genomes East Asian Sub 1008 C=0.6310 T=0.3690
1000Genomes Europe Sub 1006 C=0.8360 T=0.1640
1000Genomes South Asian Sub 978 C=0.804 T=0.196
1000Genomes American Sub 694 C=0.634 T=0.366
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.7576 T=0.2424
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.8672 T=0.1328
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.8538 T=0.1462
KOREAN population from KRGDB KOREAN Study-wide 2930 C=0.6696 T=0.3304
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 C=0.7572 T=0.2428
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 C=0.677 T=0.323
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 C=0.804 T=0.196
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 C=0.883 T=0.117
HGDP-CEPH-db Supplement 1 Europe Sub 320 C=0.863 T=0.138
HGDP-CEPH-db Supplement 1 Africa Sub 242 C=0.971 T=0.029
HGDP-CEPH-db Supplement 1 America Sub 216 C=0.315 T=0.685
HGDP-CEPH-db Supplement 1 Oceania Sub 72 C=0.54 T=0.46
HapMap Global Study-wide 1892 C=0.8309 T=0.1691
HapMap American Sub 770 C=0.782 T=0.218
HapMap African Sub 692 C=0.952 T=0.048
HapMap Asian Sub 254 C=0.626 T=0.374
HapMap Europe Sub 176 C=0.864 T=0.136
Korean Genome Project KOREAN Study-wide 1832 C=0.6463 T=0.3537
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.849 T=0.151
Northern Sweden ACPOP Study-wide 600 C=0.805 T=0.195
SGDP_PRJ Global Study-wide 224 C=0.366 T=0.634
Qatari Global Study-wide 216 C=0.847 T=0.153
A Vietnamese Genetic Variation Database Global Study-wide 214 C=0.612 T=0.388
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 68 C=0.94 T=0.06
The Danish reference pan genome Danish Study-wide 40 C=0.80 T=0.20
Siberian Global Study-wide 30 C=0.33 T=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 C= T
GRCh38.p13 chr 13 NC_000013.11:g.28636323= NC_000013.11:g.28636323C>T
GRCh37.p13 chr 13 NC_000013.10:g.29210460= NC_000013.10:g.29210460C>T
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#.

82 SubSNP, 20 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_SNP ss13254278 Dec 05, 2003 (119)
2 PERLEGEN ss24023050 Sep 20, 2004 (123)
3 ILLUMINA ss68050281 Nov 30, 2006 (127)
4 PERLEGEN ss69129445 May 17, 2007 (127)
5 ILLUMINA ss71614961 May 17, 2007 (127)
6 ILLUMINA ss75413090 Dec 07, 2007 (129)
7 BGI ss103106527 Dec 01, 2009 (131)
8 KRIBB_YJKIM ss119595713 Dec 01, 2009 (131)
9 ENSEMBL ss143340260 Dec 01, 2009 (131)
10 GMI ss154584367 Dec 01, 2009 (131)
11 ILLUMINA ss160998117 Dec 01, 2009 (131)
12 COMPLETE_GENOMICS ss167791775 Jul 04, 2010 (132)
13 ILLUMINA ss174865206 Jul 04, 2010 (132)
14 1000GENOMES ss226099337 Jul 14, 2010 (132)
15 1000GENOMES ss236190602 Jul 15, 2010 (132)
16 1000GENOMES ss242698099 Jul 15, 2010 (132)
17 GMI ss281653114 May 04, 2012 (137)
18 PJP ss291564880 May 09, 2011 (134)
19 ILLUMINA ss481932108 May 04, 2012 (137)
20 ILLUMINA ss481965253 May 04, 2012 (137)
21 ILLUMINA ss482922650 Sep 08, 2015 (146)
22 ILLUMINA ss485759800 May 04, 2012 (137)
23 ILLUMINA ss537610668 Sep 08, 2015 (146)
24 TISHKOFF ss563571683 Apr 25, 2013 (138)
25 SSMP ss659167475 Apr 25, 2013 (138)
26 ILLUMINA ss779013726 Sep 08, 2015 (146)
27 ILLUMINA ss783325714 Sep 08, 2015 (146)
28 ILLUMINA ss784277530 Sep 08, 2015 (146)
29 ILLUMINA ss832587384 Sep 08, 2015 (146)
30 ILLUMINA ss834476219 Sep 08, 2015 (146)
31 EVA-GONL ss990228512 Aug 21, 2014 (142)
32 JMKIDD_LAB ss1078963799 Aug 21, 2014 (142)
33 1000GENOMES ss1347620148 Aug 21, 2014 (142)
34 DDI ss1427140559 Apr 01, 2015 (144)
35 EVA_GENOME_DK ss1576695148 Apr 01, 2015 (144)
36 EVA_UK10K_ALSPAC ss1629957435 Apr 01, 2015 (144)
37 EVA_DECODE ss1642333077 Apr 01, 2015 (144)
38 EVA_UK10K_TWINSUK ss1672951468 Apr 01, 2015 (144)
39 EVA_SVP ss1713378469 Apr 01, 2015 (144)
40 ILLUMINA ss1752099423 Sep 08, 2015 (146)
41 HAMMER_LAB ss1807541841 Sep 08, 2015 (146)
42 WEILL_CORNELL_DGM ss1933597501 Feb 12, 2016 (147)
43 GENOMED ss1967743411 Jul 19, 2016 (147)
44 JJLAB ss2027554431 Sep 14, 2016 (149)
45 USC_VALOUEV ss2155919154 Dec 20, 2016 (150)
46 HUMAN_LONGEVITY ss2195103449 Dec 20, 2016 (150)
47 TOPMED ss2359203596 Dec 20, 2016 (150)
48 SYSTEMSBIOZJU ss2628265357 Nov 08, 2017 (151)
49 ILLUMINA ss2633043887 Nov 08, 2017 (151)
50 GRF ss2700291314 Nov 08, 2017 (151)
51 GNOMAD ss2917945282 Nov 08, 2017 (151)
52 SWEGEN ss3010774514 Nov 08, 2017 (151)
53 BIOINF_KMB_FNS_UNIBA ss3027592759 Nov 08, 2017 (151)
54 TOPMED ss3188784850 Nov 08, 2017 (151)
55 CSHL ss3350382027 Nov 08, 2017 (151)
56 ILLUMINA ss3627029703 Oct 12, 2018 (152)
57 ILLUMINA ss3631048131 Oct 12, 2018 (152)
58 ILLUMINA ss3633746274 Oct 12, 2018 (152)
59 ILLUMINA ss3634537383 Oct 12, 2018 (152)
60 ILLUMINA ss3635436494 Oct 12, 2018 (152)
61 ILLUMINA ss3636223959 Oct 12, 2018 (152)
62 ILLUMINA ss3637187550 Oct 12, 2018 (152)
63 ILLUMINA ss3638002197 Oct 12, 2018 (152)
64 ILLUMINA ss3640244714 Oct 12, 2018 (152)
65 ILLUMINA ss3642992726 Oct 12, 2018 (152)
66 URBANLAB ss3649996515 Oct 12, 2018 (152)
67 EGCUT_WGS ss3678035208 Jul 13, 2019 (153)
68 EVA_DECODE ss3694991769 Jul 13, 2019 (153)
69 ACPOP ss3739612604 Jul 13, 2019 (153)
70 ILLUMINA ss3744838116 Jul 13, 2019 (153)
71 EVA ss3751276028 Jul 13, 2019 (153)
72 ILLUMINA ss3772337231 Jul 13, 2019 (153)
73 KHV_HUMAN_GENOMES ss3816607013 Jul 13, 2019 (153)
74 EVA ss3833466996 Apr 27, 2020 (154)
75 HGDP ss3847473141 Apr 27, 2020 (154)
76 SGDP_PRJ ss3879661066 Apr 27, 2020 (154)
77 KRGDB ss3928482528 Apr 27, 2020 (154)
78 KOGIC ss3973268530 Apr 27, 2020 (154)
79 EVA ss3985630930 Apr 26, 2021 (155)
80 EVA ss4017624480 Apr 26, 2021 (155)
81 TOPMED ss4941001103 Apr 26, 2021 (155)
82 TOMMO_GENOMICS ss5209317223 Apr 26, 2021 (155)
83 1000Genomes NC_000013.10 - 29210460 Oct 12, 2018 (152)
84 The Avon Longitudinal Study of Parents and Children NC_000013.10 - 29210460 Oct 12, 2018 (152)
85 Genetic variation in the Estonian population NC_000013.10 - 29210460 Oct 12, 2018 (152)
86 The Danish reference pan genome NC_000013.10 - 29210460 Apr 27, 2020 (154)
87 gnomAD - Genomes NC_000013.11 - 28636323 Apr 26, 2021 (155)
88 Genome of the Netherlands Release 5 NC_000013.10 - 29210460 Apr 27, 2020 (154)
89 HGDP-CEPH-db Supplement 1 NC_000013.9 - 28108460 Apr 27, 2020 (154)
90 HapMap NC_000013.11 - 28636323 Apr 27, 2020 (154)
91 KOREAN population from KRGDB NC_000013.10 - 29210460 Apr 27, 2020 (154)
92 Korean Genome Project NC_000013.11 - 28636323 Apr 27, 2020 (154)
93 Northern Sweden NC_000013.10 - 29210460 Jul 13, 2019 (153)
94 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000013.10 - 29210460 Apr 26, 2021 (155)
95 Qatari NC_000013.10 - 29210460 Apr 27, 2020 (154)
96 SGDP_PRJ NC_000013.10 - 29210460 Apr 27, 2020 (154)
97 Siberian NC_000013.10 - 29210460 Apr 27, 2020 (154)
98 8.3KJPN NC_000013.10 - 29210460 Apr 26, 2021 (155)
99 TopMed NC_000013.11 - 28636323 Apr 26, 2021 (155)
100 UK 10K study - Twins NC_000013.10 - 29210460 Oct 12, 2018 (152)
101 A Vietnamese Genetic Variation Database NC_000013.10 - 29210460 Jul 13, 2019 (153)
102 ALFA NC_000013.11 - 28636323 Apr 26, 2021 (155)
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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
151033, ss167791775, ss281653114, ss291564880, ss481932108, ss1642333077, ss1713378469, ss3642992726, ss3847473141 NC_000013.9:28108459:C:T NC_000013.11:28636322:C:T (self)
60468580, 33584297, 23773456, 3234517, 14984980, 35659922, 12897469, 856857, 15639431, 31678046, 8435508, 67286530, 33584297, 7449668, ss226099337, ss236190602, ss242698099, ss481965253, ss482922650, ss485759800, ss537610668, ss563571683, ss659167475, ss779013726, ss783325714, ss784277530, ss832587384, ss834476219, ss990228512, ss1078963799, ss1347620148, ss1427140559, ss1576695148, ss1629957435, ss1672951468, ss1752099423, ss1807541841, ss1933597501, ss1967743411, ss2027554431, ss2155919154, ss2359203596, ss2628265357, ss2633043887, ss2700291314, ss2917945282, ss3010774514, ss3350382027, ss3627029703, ss3631048131, ss3633746274, ss3634537383, ss3635436494, ss3636223959, ss3637187550, ss3638002197, ss3640244714, ss3678035208, ss3739612604, ss3744838116, ss3751276028, ss3772337231, ss3833466996, ss3879661066, ss3928482528, ss3985630930, ss4017624480, ss5209317223 NC_000013.10:29210459:C:T NC_000013.11:28636322:C:T (self)
426389120, 955194, 29646531, 97894004, 156546761, 1929234410, ss2195103449, ss3027592759, ss3188784850, ss3649996515, ss3694991769, ss3816607013, ss3973268530, ss4941001103 NC_000013.11:28636322:C:T NC_000013.11:28636322:C:T (self)
ss13254278 NT_009799.12:10190459:C:T NC_000013.11:28636322:C:T (self)
ss24023050, ss68050281, ss69129445, ss71614961, ss75413090, ss103106527, ss119595713, ss143340260, ss154584367, ss160998117, ss174865206 NT_024524.14:10190459:C:T NC_000013.11:28636322:C:T (self)
Help

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

No publications for rs9550383

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.post596+ae089ad