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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs10445033

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr16:88774054 (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
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.485961 (128629/264690, TOPMED)
A=0.489740 (68595/140064, GnomAD)
G=0.40005 (11303/28254, 14KJPN) (+ 20 more)
G=0.43204 (11513/26648, ALFA)
G=0.39765 (6663/16756, 8.3KJPN)
A=0.4963 (3178/6404, 1000G_30x)
G=0.4878 (2443/5008, 1000G)
G=0.4310 (1931/4480, Estonian)
G=0.3908 (1506/3854, ALSPAC)
G=0.3873 (1436/3708, TWINSUK)
G=0.3555 (1041/2928, KOREAN)
G=0.3543 (649/1832, Korea1K)
G=0.375 (374/998, GoNL)
G=0.354 (278/786, PRJEB37584)
G=0.457 (274/600, NorthernSweden)
A=0.004 (2/534, MGP)
G=0.285 (121/424, SGDP_PRJ)
A=0.430 (141/328, HapMap)
G=0.370 (80/216, Qatari)
G=0.435 (94/216, Vietnamese)
G=0.23 (20/86, Ancient Sardinia)
G=0.40 (16/40, GENOME_DK)
G=0.24 (9/38, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
PIEZO1 : Intron Variant
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 26648 G=0.43204 A=0.56796
European Sub 21734 G=0.38677 A=0.61323
African Sub 3018 G=0.7333 A=0.2667
African Others Sub 118 G=0.754 A=0.246
African American Sub 2900 G=0.7324 A=0.2676
Asian Sub 120 G=0.333 A=0.667
East Asian Sub 94 G=0.35 A=0.65
Other Asian Sub 26 G=0.27 A=0.73
Latin American 1 Sub 148 G=0.520 A=0.480
Latin American 2 Sub 622 G=0.502 A=0.498
South Asian Sub 106 G=0.340 A=0.660
Other Sub 900 G=0.477 A=0.523


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 G=0.514039 A=0.485961
gnomAD - Genomes Global Study-wide 140064 G=0.510260 A=0.489740
gnomAD - Genomes European Sub 75840 G=0.39550 A=0.60450
gnomAD - Genomes African Sub 41970 G=0.74358 A=0.25642
gnomAD - Genomes American Sub 13646 G=0.51634 A=0.48366
gnomAD - Genomes Ashkenazi Jewish Sub 3322 G=0.3191 A=0.6809
gnomAD - Genomes East Asian Sub 3132 G=0.3582 A=0.6418
gnomAD - Genomes Other Sub 2154 G=0.4819 A=0.5181
14KJPN JAPANESE Study-wide 28254 G=0.40005 A=0.59995
Allele Frequency Aggregator Total Global 26648 G=0.43204 A=0.56796
Allele Frequency Aggregator European Sub 21734 G=0.38677 A=0.61323
Allele Frequency Aggregator African Sub 3018 G=0.7333 A=0.2667
Allele Frequency Aggregator Other Sub 900 G=0.477 A=0.523
Allele Frequency Aggregator Latin American 2 Sub 622 G=0.502 A=0.498
Allele Frequency Aggregator Latin American 1 Sub 148 G=0.520 A=0.480
Allele Frequency Aggregator Asian Sub 120 G=0.333 A=0.667
Allele Frequency Aggregator South Asian Sub 106 G=0.340 A=0.660
8.3KJPN JAPANESE Study-wide 16756 G=0.39765 A=0.60235
1000Genomes_30x Global Study-wide 6404 G=0.5037 A=0.4963
1000Genomes_30x African Sub 1786 G=0.7844 A=0.2156
1000Genomes_30x Europe Sub 1266 G=0.3799 A=0.6201
1000Genomes_30x South Asian Sub 1202 G=0.3677 A=0.6323
1000Genomes_30x East Asian Sub 1170 G=0.3675 A=0.6325
1000Genomes_30x American Sub 980 G=0.482 A=0.518
1000Genomes Global Study-wide 5008 G=0.4878 A=0.5122
1000Genomes African Sub 1322 G=0.7700 A=0.2300
1000Genomes East Asian Sub 1008 G=0.3690 A=0.6310
1000Genomes Europe Sub 1006 G=0.3728 A=0.6272
1000Genomes South Asian Sub 978 G=0.356 A=0.644
1000Genomes American Sub 694 G=0.476 A=0.524
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.4310 A=0.5690
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.3908 A=0.6092
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.3873 A=0.6127
KOREAN population from KRGDB KOREAN Study-wide 2928 G=0.3555 A=0.6445
Korean Genome Project KOREAN Study-wide 1832 G=0.3543 A=0.6457
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.375 A=0.625
CNV burdens in cranial meningiomas Global Study-wide 786 G=0.354 A=0.646
CNV burdens in cranial meningiomas CRM Sub 786 G=0.354 A=0.646
Northern Sweden ACPOP Study-wide 600 G=0.457 A=0.543
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 G=0.996 A=0.004
SGDP_PRJ Global Study-wide 424 G=0.285 A=0.715
HapMap Global Study-wide 328 G=0.570 A=0.430
HapMap African Sub 120 G=0.883 A=0.117
HapMap American Sub 120 G=0.367 A=0.633
HapMap Asian Sub 88 G=0.42 A=0.58
Qatari Global Study-wide 216 G=0.370 A=0.630
A Vietnamese Genetic Variation Database Global Study-wide 216 G=0.435 A=0.565
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 86 G=0.23 A=0.77
The Danish reference pan genome Danish Study-wide 40 G=0.40 A=0.60
Siberian Global Study-wide 38 G=0.24 A=0.76
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.p14 chr 16 NC_000016.10:g.88774054G>A
GRCh37.p13 chr 16 NC_000016.9:g.88840462G>A
Er blood group RefSeqGene (LRG_1137) NG_042229.1:g.16167C>T
Gene: PIEZO1, piezo type mechanosensitive ion channel component 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
PIEZO1 transcript NM_001142864.4:c.64+10847…

NM_001142864.4:c.64+10847C>T

 		N/A Intron 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
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 G= A
GRCh38.p14 chr 16 NC_000016.10:g.88774054= NC_000016.10:g.88774054G>A
GRCh37.p13 chr 16 NC_000016.9:g.88840462= NC_000016.9:g.88840462G>A
Er blood group RefSeqGene (LRG_1137) NG_042229.1:g.16167= NG_042229.1:g.16167C>T
PIEZO1 transcript NM_001142864.2:c.64+10847= NM_001142864.2:c.64+10847C>T
PIEZO1 transcript NM_001142864.4:c.64+10847= NM_001142864.4:c.64+10847C>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#.

92 SubSNP, 23 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_SNP ss14772087 Dec 05, 2003 (119)
2 PERLEGEN ss24576796 Sep 20, 2004 (123)
3 PERLEGEN ss69355238 May 17, 2007 (127)
4 HGSV ss84675637 Dec 15, 2007 (130)
5 BCMHGSC_JDW ss90497030 Mar 24, 2008 (129)
6 BGI ss106491808 Feb 06, 2009 (130)
7 1000GENOMES ss113158767 Jan 25, 2009 (130)
8 ENSEMBL ss136882580 Dec 01, 2009 (131)
9 COMPLETE_GENOMICS ss168664227 Jul 04, 2010 (132)
10 COMPLETE_GENOMICS ss170636664 Jul 04, 2010 (132)
11 COMPLETE_GENOMICS ss171726252 Jul 04, 2010 (132)
12 BUSHMAN ss202087388 Jul 04, 2010 (132)
13 BCM-HGSC-SUB ss207692067 Jul 04, 2010 (132)
14 1000GENOMES ss227414026 Jul 14, 2010 (132)
15 1000GENOMES ss237147263 Jul 15, 2010 (132)
16 1000GENOMES ss243463995 Jul 15, 2010 (132)
17 BL ss255882221 May 09, 2011 (134)
18 GMI ss282653122 May 04, 2012 (137)
19 GMI ss287129585 Apr 25, 2013 (138)
20 PJP ss291903613 May 09, 2011 (134)
21 ILLUMINA ss483341443 May 04, 2012 (137)
22 ILLUMINA ss483586903 May 04, 2012 (137)
23 ILLUMINA ss535555466 Sep 08, 2015 (146)
24 TISHKOFF ss565105542 Apr 25, 2013 (138)
25 SSMP ss660883892 Apr 25, 2013 (138)
26 ILLUMINA ss780241003 Sep 08, 2015 (146)
27 ILLUMINA ss782113841 Sep 08, 2015 (146)
28 ILLUMINA ss835726438 Sep 08, 2015 (146)
29 EVA-GONL ss992818881 Aug 21, 2014 (142)
30 JMKIDD_LAB ss1080862236 Aug 21, 2014 (142)
31 1000GENOMES ss1357511781 Aug 21, 2014 (142)
32 DDI ss1427945621 Apr 01, 2015 (144)
33 EVA_GENOME_DK ss1578047355 Apr 01, 2015 (144)
34 EVA_UK10K_ALSPAC ss1635095816 Apr 01, 2015 (144)
35 EVA_UK10K_TWINSUK ss1678089849 Apr 01, 2015 (144)
36 EVA_DECODE ss1696860628 Apr 01, 2015 (144)
37 EVA_MGP ss1711440266 Apr 01, 2015 (144)
38 HAMMER_LAB ss1808657946 Sep 08, 2015 (146)
39 WEILL_CORNELL_DGM ss1936258858 Feb 12, 2016 (147)
40 ILLUMINA ss1959709901 Feb 12, 2016 (147)
41 GENOMED ss1968332073 Jul 19, 2016 (147)
42 JJLAB ss2028920555 Sep 14, 2016 (149)
43 USC_VALOUEV ss2157360198 Dec 20, 2016 (150)
44 HUMAN_LONGEVITY ss2214723827 Dec 20, 2016 (150)
45 SYSTEMSBIOZJU ss2628950205 Nov 08, 2017 (151)
46 ILLUMINA ss2633361830 Nov 08, 2017 (151)
47 GRF ss2701896972 Nov 08, 2017 (151)
48 GNOMAD ss2946559579 Nov 08, 2017 (151)
49 AFFY ss2985718212 Nov 08, 2017 (151)
50 SWEGEN ss3015021479 Nov 08, 2017 (151)
51 ILLUMINA ss3021740129 Nov 08, 2017 (151)
52 BIOINF_KMB_FNS_UNIBA ss3028278136 Nov 08, 2017 (151)
53 CSHL ss3351600902 Nov 08, 2017 (151)
54 ILLUMINA ss3627600150 Oct 12, 2018 (152)
55 ILLUMINA ss3631345436 Oct 12, 2018 (152)
56 ILLUMINA ss3641977098 Oct 12, 2018 (152)
57 URBANLAB ss3650577228 Oct 12, 2018 (152)
58 ILLUMINA ss3652152470 Oct 12, 2018 (152)
59 EGCUT_WGS ss3682000523 Jul 13, 2019 (153)
60 EVA_DECODE ss3699880655 Jul 13, 2019 (153)
61 ACPOP ss3741781473 Jul 13, 2019 (153)
62 EVA ss3754327664 Jul 13, 2019 (153)
63 PACBIO ss3788121303 Jul 13, 2019 (153)
64 PACBIO ss3793092235 Jul 13, 2019 (153)
65 PACBIO ss3797977607 Jul 13, 2019 (153)
66 KHV_HUMAN_GENOMES ss3819599091 Jul 13, 2019 (153)
67 EVA ss3834726703 Apr 27, 2020 (154)
68 EVA ss3840970915 Apr 27, 2020 (154)
69 EVA ss3846464607 Apr 27, 2020 (154)
70 SGDP_PRJ ss3885106472 Apr 27, 2020 (154)
71 KRGDB ss3934664059 Apr 27, 2020 (154)
72 KOGIC ss3978195554 Apr 27, 2020 (154)
73 EVA ss3984718071 Apr 26, 2021 (155)
74 EVA ss3985775917 Apr 26, 2021 (155)
75 TOPMED ss5026224432 Apr 26, 2021 (155)
76 TOMMO_GENOMICS ss5221004244 Apr 26, 2021 (155)
77 1000G_HIGH_COVERAGE ss5302061958 Oct 16, 2022 (156)
78 EVA ss5315864980 Oct 16, 2022 (156)
79 EVA ss5425742273 Oct 16, 2022 (156)
80 HUGCELL_USP ss5495290577 Oct 16, 2022 (156)
81 1000G_HIGH_COVERAGE ss5605266519 Oct 16, 2022 (156)
82 SANFORD_IMAGENETICS ss5624389323 Oct 16, 2022 (156)
83 SANFORD_IMAGENETICS ss5659520808 Oct 16, 2022 (156)
84 TOMMO_GENOMICS ss5776433172 Oct 16, 2022 (156)
85 YY_MCH ss5816241844 Oct 16, 2022 (156)
86 EVA ss5846842126 Oct 16, 2022 (156)
87 EVA ss5847469113 Oct 16, 2022 (156)
88 EVA ss5847783024 Oct 16, 2022 (156)
89 EVA ss5851697630 Oct 16, 2022 (156)
90 EVA ss5900354534 Oct 16, 2022 (156)
91 EVA ss5950937142 Oct 16, 2022 (156)
92 EVA ss5979496157 Oct 16, 2022 (156)
93 1000Genomes NC_000016.9 - 88840462 Oct 12, 2018 (152)
94 1000Genomes_30x NC_000016.10 - 88774054 Oct 16, 2022 (156)
95 The Avon Longitudinal Study of Parents and Children NC_000016.9 - 88840462 Oct 12, 2018 (152)
96 Genetic variation in the Estonian population NC_000016.9 - 88840462 Oct 12, 2018 (152)
97 The Danish reference pan genome NC_000016.9 - 88840462 Apr 27, 2020 (154)
98 gnomAD - Genomes NC_000016.10 - 88774054 Apr 26, 2021 (155)
99 Genome of the Netherlands Release 5 NC_000016.9 - 88840462 Apr 27, 2020 (154)
100 HapMap NC_000016.10 - 88774054 Apr 27, 2020 (154)
101 KOREAN population from KRGDB NC_000016.9 - 88840462 Apr 27, 2020 (154)
102 Korean Genome Project NC_000016.10 - 88774054 Apr 27, 2020 (154)
103 Medical Genome Project healthy controls from Spanish population NC_000016.9 - 88840462 Apr 27, 2020 (154)
104 Northern Sweden NC_000016.9 - 88840462 Jul 13, 2019 (153)
105 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000016.9 - 88840462 Apr 26, 2021 (155)
106 CNV burdens in cranial meningiomas NC_000016.9 - 88840462 Apr 26, 2021 (155)
107 Qatari NC_000016.9 - 88840462 Apr 27, 2020 (154)
108 SGDP_PRJ NC_000016.9 - 88840462 Apr 27, 2020 (154)
109 Siberian NC_000016.9 - 88840462 Apr 27, 2020 (154)
110 8.3KJPN NC_000016.9 - 88840462 Apr 26, 2021 (155)
111 14KJPN NC_000016.10 - 88774054 Oct 16, 2022 (156)
112 TopMed NC_000016.10 - 88774054 Apr 26, 2021 (155)
113 UK 10K study - Twins NC_000016.9 - 88840462 Oct 12, 2018 (152)
114 A Vietnamese Genetic Variation Database NC_000016.9 - 88840462 Jul 13, 2019 (153)
115 ALFA NC_000016.10 - 88774054 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).

Associated ID History Updated (Build)
rs17590799 Oct 08, 2004 (123)
rs60097471 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss84675637, ss90497030, ss113158767, ss168664227, ss170636664, ss171726252, ss202087388, ss207692067, ss255882221, ss282653122, ss287129585, ss291903613, ss483586903, ss1696860628 NC_000016.8:87367962:G:A NC_000016.10:88774053:G:A (self)
70711730, 39230293, 27738771, 4254236, 17487911, 41841453, 556026, 15066338, 1001844, 267609, 18300780, 37123452, 9876552, 78973551, 39230293, 8692659, ss227414026, ss237147263, ss243463995, ss483341443, ss535555466, ss565105542, ss660883892, ss780241003, ss782113841, ss835726438, ss992818881, ss1080862236, ss1357511781, ss1427945621, ss1578047355, ss1635095816, ss1678089849, ss1711440266, ss1808657946, ss1936258858, ss1959709901, ss1968332073, ss2028920555, ss2157360198, ss2628950205, ss2633361830, ss2701896972, ss2946559579, ss2985718212, ss3015021479, ss3021740129, ss3351600902, ss3627600150, ss3631345436, ss3641977098, ss3652152470, ss3682000523, ss3741781473, ss3754327664, ss3788121303, ss3793092235, ss3797977607, ss3834726703, ss3840970915, ss3885106472, ss3934664059, ss3984718071, ss3985775917, ss5221004244, ss5315864980, ss5425742273, ss5624389323, ss5659520808, ss5846842126, ss5847469113, ss5847783024, ss5950937142, ss5979496157 NC_000016.9:88840461:G:A NC_000016.10:88774053:G:A (self)
92792454, 498640956, 1442437, 34573555, 110270276, 241770093, 3073954432, ss2214723827, ss3028278136, ss3650577228, ss3699880655, ss3819599091, ss3846464607, ss3978195554, ss5026224432, ss5302061958, ss5495290577, ss5605266519, ss5776433172, ss5816241844, ss5851697630, ss5900354534 NC_000016.10:88774053:G:A NC_000016.10:88774053:G:A (self)
ss14772087 NT_010542.14:398282:G:A NC_000016.10:88774053:G:A (self)
ss24576796, ss69355238, ss106491808, ss136882580 NT_010542.15:401078:G:A NC_000016.10:88774053:G:A (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 rs10445033

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.post761+d5e8e07