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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.

rs9550384

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr13:28636507 (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
T>C / T>G
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.166346 (44030/264690, TOPMED)
C=0.162492 (22783/140210, GnomAD)
C=0.33807 (5666/16760, 8.3KJPN) (+ 14 more)
C=0.09217 (1444/15666, ALFA)
C=0.2131 (1067/5008, 1000G)
C=0.2422 (1085/4480, Estonian)
C=0.1336 (515/3854, ALSPAC)
C=0.1478 (548/3708, TWINSUK)
C=0.3304 (968/2930, KOREAN)
C=0.3537 (648/1832, Korea1K)
C=0.151 (151/998, GoNL)
C=0.195 (117/600, NorthernSweden)
T=0.367 (83/226, SGDP_PRJ)
C=0.153 (33/216, Qatari)
C=0.388 (83/214, Vietnamese)
C=0.20 (8/40, GENOME_DK)
T=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.28636507T>C
GRCh38.p13 chr 13 NC_000013.11:g.28636507T>G
GRCh37.p13 chr 13 NC_000013.10:g.29210644T>C
GRCh37.p13 chr 13 NC_000013.10:g.29210644T>G
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 15666 T=0.90783 C=0.09217, G=0.00000
European Sub 12176 T=0.88518 C=0.11482, G=0.00000
African Sub 2480 T=0.9968 C=0.0032, G=0.0000
African Others Sub 100 T=1.00 C=0.00, G=0.00
African American Sub 2380 T=0.9966 C=0.0034, G=0.0000
Asian Sub 50 T=1.00 C=0.00, G=0.00
East Asian Sub 36 T=1.00 C=0.00, G=0.00
Other Asian Sub 14 T=1.00 C=0.00, G=0.00
Latin American 1 Sub 102 T=1.000 C=0.000, G=0.000
Latin American 2 Sub 234 T=1.000 C=0.000, G=0.000
South Asian Sub 58 T=1.00 C=0.00, G=0.00
Other Sub 566 T=0.933 C=0.067, G=0.000


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 T=0.833654 C=0.166346
gnomAD - Genomes Global Study-wide 140210 T=0.837508 C=0.162492
gnomAD - Genomes European Sub 75922 T=0.82628 C=0.17372
gnomAD - Genomes African Sub 42034 T=0.91179 C=0.08821
gnomAD - Genomes American Sub 13654 T=0.70829 C=0.29171
gnomAD - Genomes Ashkenazi Jewish Sub 3324 T=0.8785 C=0.1215
gnomAD - Genomes East Asian Sub 3128 T=0.6442 C=0.3558
gnomAD - Genomes Other Sub 2148 T=0.8203 C=0.1797
8.3KJPN JAPANESE Study-wide 16760 T=0.66193 C=0.33807
1000Genomes Global Study-wide 5008 T=0.7869 C=0.2131
1000Genomes African Sub 1322 T=0.9372 C=0.0628
1000Genomes East Asian Sub 1008 T=0.6300 C=0.3700
1000Genomes Europe Sub 1006 T=0.8360 C=0.1640
1000Genomes South Asian Sub 978 T=0.804 C=0.196
1000Genomes American Sub 694 T=0.634 C=0.366
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.7578 C=0.2422
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.8664 C=0.1336
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.8522 C=0.1478
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.6693 C=0.3304, G=0.0003
Korean Genome Project KOREAN Study-wide 1832 T=0.6463 C=0.3537
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.849 C=0.151
Northern Sweden ACPOP Study-wide 600 T=0.805 C=0.195
SGDP_PRJ Global Study-wide 226 T=0.367 C=0.633
Qatari Global Study-wide 216 T=0.847 C=0.153
A Vietnamese Genetic Variation Database Global Study-wide 214 T=0.612 C=0.388
The Danish reference pan genome Danish Study-wide 40 T=0.80 C=0.20
Siberian Global Study-wide 30 T=0.33 C=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 T= C G
GRCh38.p13 chr 13 NC_000013.11:g.28636507= NC_000013.11:g.28636507T>C NC_000013.11:g.28636507T>G
GRCh37.p13 chr 13 NC_000013.10:g.29210644= NC_000013.10:g.29210644T>C NC_000013.10:g.29210644T>G
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#.

50 SubSNP, 17 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_SNP ss13254279 Dec 05, 2003 (119)
2 PERLEGEN ss24023069 Sep 20, 2004 (123)
3 HUMANGENOME_JCVI ss97145430 Feb 06, 2009 (130)
4 BGI ss103106528 Dec 01, 2009 (131)
5 ENSEMBL ss143528278 Dec 01, 2009 (131)
6 GMI ss154584375 Dec 01, 2009 (131)
7 COMPLETE_GENOMICS ss167791787 Jul 04, 2010 (132)
8 1000GENOMES ss226099338 Jul 14, 2010 (132)
9 1000GENOMES ss236190603 Jul 15, 2010 (132)
10 1000GENOMES ss242698100 Jul 15, 2010 (132)
11 GMI ss281653115 May 04, 2012 (137)
12 PJP ss291564881 May 09, 2011 (134)
13 TISHKOFF ss563571684 Apr 25, 2013 (138)
14 SSMP ss659167476 Apr 25, 2013 (138)
15 EVA-GONL ss990228514 Aug 21, 2014 (142)
16 JMKIDD_LAB ss1078963800 Aug 21, 2014 (142)
17 1000GENOMES ss1347620156 Aug 21, 2014 (142)
18 DDI ss1427140561 Apr 01, 2015 (144)
19 EVA_GENOME_DK ss1576695149 Apr 01, 2015 (144)
20 EVA_UK10K_ALSPAC ss1629957440 Apr 01, 2015 (144)
21 EVA_DECODE ss1642333078 Apr 01, 2015 (144)
22 EVA_UK10K_TWINSUK ss1672951473 Apr 01, 2015 (144)
23 HAMMER_LAB ss1807541842 Sep 08, 2015 (146)
24 WEILL_CORNELL_DGM ss1933597504 Feb 12, 2016 (147)
25 GENOMED ss1967743412 Jul 19, 2016 (147)
26 JJLAB ss2027554432 Sep 14, 2016 (149)
27 USC_VALOUEV ss2155919155 Dec 20, 2016 (150)
28 HUMAN_LONGEVITY ss2195103464 Dec 20, 2016 (150)
29 TOPMED ss2359203610 Dec 20, 2016 (150)
30 SYSTEMSBIOZJU ss2628265358 Nov 08, 2017 (151)
31 ILLUMINA ss2633043888 Nov 08, 2017 (151)
32 GRF ss2700291316 Nov 08, 2017 (151)
33 GNOMAD ss2917945302 Nov 08, 2017 (151)
34 SWEGEN ss3010774515 Nov 08, 2017 (151)
35 BIOINF_KMB_FNS_UNIBA ss3027592760 Nov 08, 2017 (151)
36 TOPMED ss3188784891 Nov 08, 2017 (151)
37 TOPMED ss3188784892 Nov 08, 2017 (151)
38 CSHL ss3350382028 Nov 08, 2017 (151)
39 URBANLAB ss3649996516 Oct 12, 2018 (152)
40 EGCUT_WGS ss3678035212 Jul 13, 2019 (153)
41 EVA_DECODE ss3694991771 Jul 13, 2019 (153)
42 ACPOP ss3739612605 Jul 13, 2019 (153)
43 EVA ss3751276029 Jul 13, 2019 (153)
44 KHV_HUMAN_GENOMES ss3816607017 Jul 13, 2019 (153)
45 EVA ss3833466997 Apr 27, 2020 (154)
46 SGDP_PRJ ss3879661071 Apr 27, 2020 (154)
47 KRGDB ss3928482532 Apr 27, 2020 (154)
48 KOGIC ss3973268532 Apr 27, 2020 (154)
49 TOPMED ss4941001155 Apr 26, 2021 (155)
50 TOMMO_GENOMICS ss5209317228 Apr 26, 2021 (155)
51 1000Genomes NC_000013.10 - 29210644 Oct 12, 2018 (152)
52 The Avon Longitudinal Study of Parents and Children NC_000013.10 - 29210644 Oct 12, 2018 (152)
53 Genetic variation in the Estonian population NC_000013.10 - 29210644 Oct 12, 2018 (152)
54 The Danish reference pan genome NC_000013.10 - 29210644 Apr 27, 2020 (154)
55 gnomAD - Genomes NC_000013.11 - 28636507 Apr 26, 2021 (155)
56 Genome of the Netherlands Release 5 NC_000013.10 - 29210644 Apr 27, 2020 (154)
57 KOREAN population from KRGDB NC_000013.10 - 29210644 Apr 27, 2020 (154)
58 Korean Genome Project NC_000013.11 - 28636507 Apr 27, 2020 (154)
59 Northern Sweden NC_000013.10 - 29210644 Jul 13, 2019 (153)
60 Qatari NC_000013.10 - 29210644 Apr 27, 2020 (154)
61 SGDP_PRJ NC_000013.10 - 29210644 Apr 27, 2020 (154)
62 Siberian NC_000013.10 - 29210644 Apr 27, 2020 (154)
63 8.3KJPN NC_000013.10 - 29210644 Apr 26, 2021 (155)
64 TopMed NC_000013.11 - 28636507 Apr 26, 2021 (155)
65 UK 10K study - Twins NC_000013.10 - 29210644 Oct 12, 2018 (152)
66 A Vietnamese Genetic Variation Database NC_000013.10 - 29210644 Jul 13, 2019 (153)
67 ALFA NC_000013.11 - 28636507 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
ss167791787, ss281653115, ss291564881, ss1642333078 NC_000013.9:28108643:T:C NC_000013.11:28636506:T:C (self)
60468588, 33584302, 23773460, 3234518, 14984982, 35659926, 12897470, 15639434, 31678051, 8435509, 67286535, 33584302, 7449670, ss226099338, ss236190603, ss242698100, ss563571684, ss659167476, ss990228514, ss1078963800, ss1347620156, ss1427140561, ss1576695149, ss1629957440, ss1672951473, ss1807541842, ss1933597504, ss1967743412, ss2027554432, ss2155919155, ss2359203610, ss2628265358, ss2633043888, ss2700291316, ss2917945302, ss3010774515, ss3350382028, ss3678035212, ss3739612605, ss3751276029, ss3833466997, ss3879661071, ss3928482532, ss5209317228 NC_000013.10:29210643:T:C NC_000013.11:28636506:T:C (self)
426389162, 29646533, 97894044, 156546813, 14643345213, ss2195103464, ss3027592760, ss3188784891, ss3649996516, ss3694991771, ss3816607017, ss3973268532, ss4941001155 NC_000013.11:28636506:T:C NC_000013.11:28636506:T:C (self)
ss13254279 NT_009799.12:10190643:T:C NC_000013.11:28636506:T:C (self)
ss24023069, ss97145430, ss103106528, ss143528278, ss154584375 NT_024524.14:10190643:T:C NC_000013.11:28636506:T:C (self)
35659926, ss3928482532 NC_000013.10:29210643:T:G NC_000013.11:28636506:T:G (self)
14643345213, ss3188784892 NC_000013.11:28636506:T:G NC_000013.11:28636506:T:G (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 rs9550384

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