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.

rs2021

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr13:32299038 (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
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.233110 (61702/264690, TOPMED)
C=0.223355 (31309/140176, GnomAD)
C=0.22001 (4156/18890, ALFA) (+ 13 more)
C=0.40579 (6801/16760, 8.3KJPN)
C=0.2518 (1261/5008, 1000G)
C=0.1911 (856/4480, Estonian)
C=0.1982 (764/3854, ALSPAC)
C=0.2225 (825/3708, TWINSUK)
C=0.3334 (977/2930, KOREAN)
C=0.201 (201/998, GoNL)
C=0.250 (150/600, NorthernSweden)
T=0.419 (108/258, SGDP_PRJ)
C=0.227 (49/216, Qatari)
C=0.282 (61/216, Vietnamese)
C=0.17 (7/40, GENOME_DK)
T=0.35 (7/20, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
FRY : 3 Prime UTR Variant
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.32299038T>C
GRCh37.p13 chr 13 NC_000013.10:g.32873175T>C
Gene: FRY, FRY microtubule binding protein (plus strand)
Molecule type Change Amino acid[Codon] SO Term
FRY transcript NM_023037.3:c.*3578= N/A 3 Prime UTR Variant
FRY transcript variant X1 XM_006719749.3:c.*3578= N/A 3 Prime UTR Variant
FRY transcript variant X3 XM_017020306.1:c.*3578= N/A 3 Prime UTR Variant
FRY transcript variant X2 XM_017020305.2:c.*3578= N/A 3 Prime UTR Variant
FRY transcript variant X4 XM_017020307.2:c.*3578= N/A 3 Prime UTR 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
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 18890 T=0.77999 C=0.22001
European Sub 14286 T=0.79119 C=0.20881
African Sub 2946 T=0.7498 C=0.2502
African Others Sub 114 T=0.789 C=0.211
African American Sub 2832 T=0.7482 C=0.2518
Asian Sub 112 T=0.643 C=0.357
East Asian Sub 86 T=0.67 C=0.33
Other Asian Sub 26 T=0.54 C=0.46
Latin American 1 Sub 146 T=0.829 C=0.171
Latin American 2 Sub 610 T=0.687 C=0.313
South Asian Sub 98 T=0.73 C=0.27
Other Sub 692 T=0.777 C=0.223


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=0.766890 C=0.233110
gnomAD - Genomes Global Study-wide 140176 T=0.776645 C=0.223355
gnomAD - Genomes European Sub 75914 T=0.79607 C=0.20393
gnomAD - Genomes African Sub 42012 T=0.75188 C=0.24812
gnomAD - Genomes American Sub 13652 T=0.77271 C=0.22729
gnomAD - Genomes Ashkenazi Jewish Sub 3320 T=0.7789 C=0.2211
gnomAD - Genomes East Asian Sub 3124 T=0.6527 C=0.3473
gnomAD - Genomes Other Sub 2154 T=0.7762 C=0.2238
8.3KJPN JAPANESE Study-wide 16760 T=0.59421 C=0.40579
1000Genomes Global Study-wide 5008 T=0.7482 C=0.2518
1000Genomes African Sub 1322 T=0.7731 C=0.2269
1000Genomes East Asian Sub 1008 T=0.6696 C=0.3304
1000Genomes Europe Sub 1006 T=0.7962 C=0.2038
1000Genomes South Asian Sub 978 T=0.764 C=0.236
1000Genomes American Sub 694 T=0.723 C=0.277
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.8089 C=0.1911
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.8018 C=0.1982
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.7775 C=0.2225
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.6666 C=0.3334
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.799 C=0.201
Northern Sweden ACPOP Study-wide 600 T=0.750 C=0.250
SGDP_PRJ Global Study-wide 258 T=0.419 C=0.581
Qatari Global Study-wide 216 T=0.773 C=0.227
A Vietnamese Genetic Variation Database Global Study-wide 216 T=0.718 C=0.282
The Danish reference pan genome Danish Study-wide 40 T=0.82 C=0.17
Siberian Global Study-wide 20 T=0.35 C=0.65
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
GRCh38.p13 chr 13 NC_000013.11:g.32299038= NC_000013.11:g.32299038T>C
GRCh37.p13 chr 13 NC_000013.10:g.32873175= NC_000013.10:g.32873175T>C
FRY transcript variant X1 XM_006719749.3:c.*3578= XM_006719749.3:c.*3578T>C
FRY transcript NM_023037.3:c.*3578= NM_023037.3:c.*3578T>C
FRY transcript variant X2 XM_017020305.2:c.*3578= XM_017020305.2:c.*3578T>C
FRY transcript variant X4 XM_017020307.2:c.*3578= XM_017020307.2:c.*3578T>C
FRY transcript variant X3 XM_017020306.1:c.*3578= XM_017020306.1:c.*3578T>C
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#.

58 SubSNP, 16 Frequency submissions
No Submitter Submission ID Date (Build)
1 WIAF ss2047 Sep 19, 2000 (36)
2 TSC-CSHL ss3049213 Jun 15, 2001 (96)
3 TSC-CSHL ss5214290 Oct 08, 2002 (108)
4 SC_SNP ss13284294 Dec 05, 2003 (119)
5 ABI ss40351506 Mar 14, 2006 (126)
6 BCMHGSC_JDW ss89578513 Mar 24, 2008 (129)
7 HUMANGENOME_JCVI ss97148144 Feb 06, 2009 (130)
8 BGI ss103109037 Dec 01, 2009 (131)
9 1000GENOMES ss112672849 Jan 25, 2009 (130)
10 ENSEMBL ss133520559 Dec 01, 2009 (131)
11 ENSEMBL ss161587898 Dec 01, 2009 (131)
12 COMPLETE_GENOMICS ss167854330 Jul 04, 2010 (132)
13 COMPLETE_GENOMICS ss170977981 Jul 04, 2010 (132)
14 1000GENOMES ss211384653 Jul 14, 2010 (132)
15 1000GENOMES ss226115460 Jul 14, 2010 (132)
16 1000GENOMES ss236202266 Jul 15, 2010 (132)
17 1000GENOMES ss242707170 Jul 15, 2010 (132)
18 BL ss254910458 May 09, 2011 (134)
19 GMI ss281664235 May 04, 2012 (137)
20 GMI ss286681184 Apr 25, 2013 (138)
21 PJP ss291571622 May 09, 2011 (134)
22 TISHKOFF ss563590083 Apr 25, 2013 (138)
23 SSMP ss659186411 Apr 25, 2013 (138)
24 EVA-GONL ss990258286 Aug 21, 2014 (142)
25 JMKIDD_LAB ss1078985750 Aug 21, 2014 (142)
26 1000GENOMES ss1347727577 Aug 21, 2014 (142)
27 DDI ss1427149749 Apr 01, 2015 (144)
28 EVA_GENOME_DK ss1576713489 Apr 01, 2015 (144)
29 EVA_UK10K_ALSPAC ss1630016657 Apr 01, 2015 (144)
30 EVA_DECODE ss1642362465 Apr 01, 2015 (144)
31 EVA_UK10K_TWINSUK ss1673010690 Apr 01, 2015 (144)
32 HAMMER_LAB ss1807554618 Sep 08, 2015 (146)
33 WEILL_CORNELL_DGM ss1933626960 Feb 12, 2016 (147)
34 GENOMED ss1967751125 Jul 19, 2016 (147)
35 JJLAB ss2027570754 Sep 14, 2016 (149)
36 USC_VALOUEV ss2155935270 Dec 20, 2016 (150)
37 HUMAN_LONGEVITY ss2195322512 Dec 20, 2016 (150)
38 TOPMED ss2359425380 Dec 20, 2016 (150)
39 SYSTEMSBIOZJU ss2628273473 Nov 08, 2017 (151)
40 GRF ss2700308089 Nov 08, 2017 (151)
41 GNOMAD ss2918243789 Nov 08, 2017 (151)
42 SWEGEN ss3010818432 Nov 08, 2017 (151)
43 BIOINF_KMB_FNS_UNIBA ss3027601487 Nov 08, 2017 (151)
44 TOPMED ss3189466382 Nov 08, 2017 (151)
45 CSHL ss3350395893 Nov 08, 2017 (151)
46 URBANLAB ss3650004185 Oct 12, 2018 (152)
47 EGCUT_WGS ss3678079750 Jul 13, 2019 (153)
48 EVA_DECODE ss3695045479 Jul 13, 2019 (153)
49 ACPOP ss3739636999 Jul 13, 2019 (153)
50 EVA ss3751310384 Jul 13, 2019 (153)
51 KHV_HUMAN_GENOMES ss3816640918 Jul 13, 2019 (153)
52 EVA ss3833481801 Apr 27, 2020 (154)
53 EVA ss3840319038 Apr 27, 2020 (154)
54 EVA ss3845803985 Apr 27, 2020 (154)
55 SGDP_PRJ ss3879716964 Apr 27, 2020 (154)
56 KRGDB ss3928544076 Apr 27, 2020 (154)
57 TOPMED ss4941922650 Apr 27, 2021 (155)
58 TOMMO_GENOMICS ss5209436483 Apr 27, 2021 (155)
59 1000Genomes NC_000013.10 - 32873175 Oct 12, 2018 (152)
60 The Avon Longitudinal Study of Parents and Children NC_000013.10 - 32873175 Oct 12, 2018 (152)
61 Genetic variation in the Estonian population NC_000013.10 - 32873175 Oct 12, 2018 (152)
62 The Danish reference pan genome NC_000013.10 - 32873175 Apr 27, 2020 (154)
63 gnomAD - Genomes NC_000013.11 - 32299038 Apr 27, 2021 (155)
64 Genome of the Netherlands Release 5 NC_000013.10 - 32873175 Apr 27, 2020 (154)
65 KOREAN population from KRGDB NC_000013.10 - 32873175 Apr 27, 2020 (154)
66 Northern Sweden NC_000013.10 - 32873175 Jul 13, 2019 (153)
67 Qatari NC_000013.10 - 32873175 Apr 27, 2020 (154)
68 SGDP_PRJ NC_000013.10 - 32873175 Apr 27, 2020 (154)
69 Siberian NC_000013.10 - 32873175 Apr 27, 2020 (154)
70 8.3KJPN NC_000013.10 - 32873175 Apr 27, 2021 (155)
71 TopMed NC_000013.11 - 32299038 Apr 27, 2021 (155)
72 UK 10K study - Twins NC_000013.10 - 32873175 Oct 12, 2018 (152)
73 A Vietnamese Genetic Variation Database NC_000013.10 - 32873175 Jul 13, 2019 (153)
74 ALFA NC_000013.11 - 32299038 Apr 27, 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
ss89578513, ss112672849, ss167854330, ss170977981, ss211384653, ss254910458, ss281664235, ss286681184, ss291571622, ss1642362465 NC_000013.9:31771174:T:C NC_000013.11:32299037:T:C (self)
60579951, 33649229, 23817998, 3247214, 15014024, 35721470, 12921864, 15668890, 31733944, 8451624, 67405790, 33649229, 7463879, ss226115460, ss236202266, ss242707170, ss563590083, ss659186411, ss990258286, ss1078985750, ss1347727577, ss1427149749, ss1576713489, ss1630016657, ss1673010690, ss1807554618, ss1933626960, ss1967751125, ss2027570754, ss2155935270, ss2359425380, ss2628273473, ss2700308089, ss2918243789, ss3010818432, ss3350395893, ss3678079750, ss3739636999, ss3751310384, ss3833481801, ss3840319038, ss3879716964, ss3928544076, ss5209436483 NC_000013.10:32873174:T:C NC_000013.11:32299037:T:C (self)
427148527, 98473663, 157468308, 9278161745, ss2195322512, ss3027601487, ss3189466382, ss3650004185, ss3695045479, ss3816640918, ss3845803985, ss4941922650 NC_000013.11:32299037:T:C NC_000013.11:32299037:T:C (self)
ss13284294 NT_024524.12:1447665:T:C NC_000013.11:32299037:T:C (self)
ss2047, ss3049213, ss5214290, ss40351506, ss97148144, ss103109037, ss133520559, ss161587898 NT_024524.14:13853174:T:C NC_000013.11:32299037:T:C (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 rs2021

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