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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.

rs146505418

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr16:88735213 (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=0.000699 (185/264690, TOPMED)
A=0.000441 (69/156378, GnomAD_exome)
A=0.000684 (96/140294, GnomAD) (+ 12 more)
A=0.001025 (135/131738, ALFA)
A=0.00019 (15/78674, PAGE_STUDY)
A=0.00029 (6/20638, ExAC)
A=0.0003 (2/6404, 1000G_30x)
A=0.0004 (2/5008, 1000G)
A=0.0009 (4/4562, GO-ESP)
A=0.0008 (3/3854, ALSPAC)
A=0.0011 (4/3708, TWINSUK)
A=0.0007 (2/2922, KOREAN)
A=0.0005 (1/1832, Korea1K)
A=0.003 (3/998, GoNL)
A=0.003 (2/792, PRJEB37584)
Clinical Significance
Reported in ClinVar
Gene : Consequence
PIEZO1 : Missense Variant
LOC100289580 : 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: 20231103111315
Population Group Sample Size Ref Allele Alt Allele
Total Global 148150 G=0.999001 A=0.000999
European Sub 118372 G=0.998902 A=0.001098
African Sub 8990 G=0.9999 A=0.0001
African Others Sub 308 G=1.000 A=0.000
African American Sub 8682 G=0.9999 A=0.0001
Asian Sub 3188 G=0.9984 A=0.0016
East Asian Sub 1940 G=0.9979 A=0.0021
Other Asian Sub 1248 G=0.9992 A=0.0008
Latin American 1 Sub 506 G=1.000 A=0.000
Latin American 2 Sub 650 G=1.000 A=0.000
South Asian Sub 104 G=1.000 A=0.000
Other Sub 16340 G=0.99927 A=0.00073


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=0.999301 A=0.000699
gnomAD - Exomes Global Study-wide 156378 G=0.999559 A=0.000441
gnomAD - Exomes European Sub 77194 G=0.99922 A=0.00078
gnomAD - Exomes Asian Sub 33670 G=0.99997 A=0.00003
gnomAD - Exomes American Sub 24676 G=0.99980 A=0.00020
gnomAD - Exomes Ashkenazi Jewish Sub 8490 G=1.0000 A=0.0000
gnomAD - Exomes African Sub 7930 G=0.9999 A=0.0001
gnomAD - Exomes Other Sub 4418 G=0.9995 A=0.0005
gnomAD - Genomes Global Study-wide 140294 G=0.999316 A=0.000684
gnomAD - Genomes European Sub 75966 G=0.99897 A=0.00103
gnomAD - Genomes African Sub 42056 G=0.99967 A=0.00033
gnomAD - Genomes American Sub 13662 G=0.99985 A=0.00015
gnomAD - Genomes Ashkenazi Jewish Sub 3324 G=1.0000 A=0.0000
gnomAD - Genomes East Asian Sub 3134 G=0.9997 A=0.0003
gnomAD - Genomes Other Sub 2152 G=0.9995 A=0.0005
Allele Frequency Aggregator Total Global 131738 G=0.998975 A=0.001025
Allele Frequency Aggregator European Sub 108232 G=0.998910 A=0.001090
Allele Frequency Aggregator Other Sub 14906 G=0.99926 A=0.00074
Allele Frequency Aggregator African Sub 4152 G=0.9998 A=0.0002
Allele Frequency Aggregator Asian Sub 3188 G=0.9984 A=0.0016
Allele Frequency Aggregator Latin American 2 Sub 650 G=1.000 A=0.000
Allele Frequency Aggregator Latin American 1 Sub 506 G=1.000 A=0.000
Allele Frequency Aggregator South Asian Sub 104 G=1.000 A=0.000
The PAGE Study Global Study-wide 78674 G=0.99981 A=0.00019
The PAGE Study AfricanAmerican Sub 32496 G=0.99982 A=0.00018
The PAGE Study Mexican Sub 10808 G=1.00000 A=0.00000
The PAGE Study Asian Sub 8314 G=1.0000 A=0.0000
The PAGE Study PuertoRican Sub 7918 G=1.0000 A=0.0000
The PAGE Study NativeHawaiian Sub 4532 G=0.9987 A=0.0013
The PAGE Study Cuban Sub 4230 G=0.9998 A=0.0002
The PAGE Study Dominican Sub 3828 G=1.0000 A=0.0000
The PAGE Study CentralAmerican Sub 2450 G=1.0000 A=0.0000
The PAGE Study SouthAmerican Sub 1982 G=0.9995 A=0.0005
The PAGE Study NativeAmerican Sub 1260 G=0.9992 A=0.0008
The PAGE Study SouthAsian Sub 856 G=1.000 A=0.000
ExAC Global Study-wide 20638 G=0.99971 A=0.00029
ExAC Europe Sub 9476 G=0.9995 A=0.0005
ExAC Asian Sub 8500 G=0.9999 A=0.0001
ExAC African Sub 2060 G=1.0000 A=0.0000
ExAC American Sub 386 G=1.000 A=0.000
ExAC Other Sub 216 G=1.000 A=0.000
1000Genomes_30x Global Study-wide 6404 G=0.9997 A=0.0003
1000Genomes_30x African Sub 1786 G=1.0000 A=0.0000
1000Genomes_30x Europe Sub 1266 G=0.9984 A=0.0016
1000Genomes_30x South Asian Sub 1202 G=1.0000 A=0.0000
1000Genomes_30x East Asian Sub 1170 G=1.0000 A=0.0000
1000Genomes_30x American Sub 980 G=1.000 A=0.000
1000Genomes Global Study-wide 5008 G=0.9996 A=0.0004
1000Genomes African Sub 1322 G=1.0000 A=0.0000
1000Genomes East Asian Sub 1008 G=1.0000 A=0.0000
1000Genomes Europe Sub 1006 G=0.9980 A=0.0020
1000Genomes South Asian Sub 978 G=1.000 A=0.000
1000Genomes American Sub 694 G=1.000 A=0.000
GO Exome Sequencing Project Global Study-wide 4562 G=0.9991 A=0.0009
GO Exome Sequencing Project European American Sub 3178 G=0.9991 A=0.0009
GO Exome Sequencing Project African American Sub 1384 G=0.9993 A=0.0007
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.9992 A=0.0008
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.9989 A=0.0011
KOREAN population from KRGDB KOREAN Study-wide 2922 G=0.9993 A=0.0007
Korean Genome Project KOREAN Study-wide 1832 G=0.9995 A=0.0005
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.997 A=0.003
CNV burdens in cranial meningiomas Global Study-wide 792 G=0.997 A=0.003
CNV burdens in cranial meningiomas CRM Sub 792 G=0.997 A=0.003
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.88735213G>A
GRCh37.p13 chr 16 NC_000016.9:g.88801621G>A
Er blood group RefSeqGene (LRG_1137) NG_042229.1:g.55008C>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.1591C>T R [CGC] > C [TGC] Coding Sequence Variant
piezo-type mechanosensitive ion channel component 1 NP_001136336.2:p.Arg531Cys R (Arg) > C (Cys) Missense Variant
Gene: LOC100289580, uncharacterized LOC100289580 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
HSALR1 transcript NR_103774.1:n. 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.

Allele: A (allele ID: 799994 )
ClinVar Accession Disease Names Clinical Significance
RCV001811589.3 not provided Uncertain-Significance
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.88735213= NC_000016.10:g.88735213G>A
GRCh37.p13 chr 16 NC_000016.9:g.88801621= NC_000016.9:g.88801621G>A
Er blood group RefSeqGene (LRG_1137) NG_042229.1:g.55008= NG_042229.1:g.55008C>T
PIEZO1 transcript NM_001142864.4:c.1591= NM_001142864.4:c.1591C>T
PIEZO1 transcript NM_001142864.3:c.1591= NM_001142864.3:c.1591C>T
PIEZO1 transcript NM_001142864.2:c.1591= NM_001142864.2:c.1591C>T
FAM38A transcript NM_014745.1:c.136= NM_014745.1:c.136C>T
piezo-type mechanosensitive ion channel component 1 NP_001136336.2:p.Arg531= NP_001136336.2:p.Arg531Cys
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#.

49 SubSNP, 15 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 1000GENOMES ss339487223 May 09, 2011 (134)
2 EXOME_CHIP ss491513234 May 04, 2012 (137)
3 NHLBI-ESP ss713331707 Apr 25, 2013 (138)
4 ILLUMINA ss780722143 Sep 08, 2015 (146)
5 ILLUMINA ss783397911 Sep 08, 2015 (146)
6 EVA-GONL ss992818308 Aug 21, 2014 (142)
7 1000GENOMES ss1357509719 Aug 21, 2014 (142)
8 EVA_UK10K_ALSPAC ss1635094905 Apr 01, 2015 (144)
9 EVA_UK10K_TWINSUK ss1678088938 Apr 01, 2015 (144)
10 EVA_EXAC ss1692466204 Apr 01, 2015 (144)
11 ILLUMINA ss1752212277 Sep 08, 2015 (146)
12 ILLUMINA ss1917911517 Feb 12, 2016 (147)
13 ILLUMINA ss1946423598 Feb 12, 2016 (147)
14 ILLUMINA ss1959709791 Feb 12, 2016 (147)
15 HUMAN_LONGEVITY ss2214719606 Dec 20, 2016 (150)
16 GNOMAD ss2742237306 Nov 08, 2017 (151)
17 GNOMAD ss2749623510 Nov 08, 2017 (151)
18 GNOMAD ss2946554211 Nov 08, 2017 (151)
19 AFFY ss2985079675 Nov 08, 2017 (151)
20 ILLUMINA ss3021740006 Nov 08, 2017 (151)
21 ILLUMINA ss3627600034 Oct 12, 2018 (152)
22 ILLUMINA ss3634657882 Oct 12, 2018 (152)
23 ILLUMINA ss3640365202 Oct 12, 2018 (152)
24 ILLUMINA ss3644676690 Oct 12, 2018 (152)
25 ILLUMINA ss3652152343 Oct 12, 2018 (152)
26 ILLUMINA ss3653851749 Oct 12, 2018 (152)
27 EVA_DECODE ss3699879525 Jul 13, 2019 (153)
28 ILLUMINA ss3725590018 Jul 13, 2019 (153)
29 ILLUMINA ss3744436454 Jul 13, 2019 (153)
30 ILLUMINA ss3744958251 Jul 13, 2019 (153)
31 EVA ss3754326931 Jul 13, 2019 (153)
32 PAGE_CC ss3771902356 Jul 13, 2019 (153)
33 ILLUMINA ss3772456376 Jul 13, 2019 (153)
34 EVA ss3825049568 Apr 27, 2020 (154)
35 EVA ss3825886494 Apr 27, 2020 (154)
36 KRGDB ss3934662761 Apr 27, 2020 (154)
37 KOGIC ss3978194406 Apr 27, 2020 (154)
38 EVA ss3984718056 Apr 26, 2021 (155)
39 TOPMED ss5026208936 Apr 26, 2021 (155)
40 EVA ss5237570049 Apr 26, 2021 (155)
41 1000G_HIGH_COVERAGE ss5302060052 Oct 16, 2022 (156)
42 EVA ss5315864920 Oct 16, 2022 (156)
43 EVA ss5425738884 Oct 16, 2022 (156)
44 1000G_HIGH_COVERAGE ss5605263865 Oct 16, 2022 (156)
45 EVA ss5846841378 Oct 16, 2022 (156)
46 EVA ss5847782989 Oct 16, 2022 (156)
47 EVA ss5900352547 Oct 16, 2022 (156)
48 EVA ss5950936094 Oct 16, 2022 (156)
49 EVA ss5979496132 Oct 16, 2022 (156)
50 1000Genomes NC_000016.9 - 88801621 Oct 12, 2018 (152)
51 1000Genomes_30x NC_000016.10 - 88735213 Oct 16, 2022 (156)
52 The Avon Longitudinal Study of Parents and Children NC_000016.9 - 88801621 Oct 12, 2018 (152)
53 ExAC NC_000016.9 - 88801621 Oct 12, 2018 (152)
54 gnomAD - Genomes NC_000016.10 - 88735213 Apr 26, 2021 (155)
55 gnomAD - Exomes NC_000016.9 - 88801621 Jul 13, 2019 (153)
56 GO Exome Sequencing Project NC_000016.9 - 88801621 Oct 12, 2018 (152)
57 Genome of the Netherlands Release 5 NC_000016.9 - 88801621 Apr 27, 2020 (154)
58 KOREAN population from KRGDB NC_000016.9 - 88801621 Apr 27, 2020 (154)
59 Korean Genome Project NC_000016.10 - 88735213 Apr 27, 2020 (154)
60 The PAGE Study NC_000016.10 - 88735213 Jul 13, 2019 (153)
61 CNV burdens in cranial meningiomas NC_000016.9 - 88801621 Apr 26, 2021 (155)
62 TopMed NC_000016.10 - 88735213 Apr 26, 2021 (155)
63 UK 10K study - Twins NC_000016.9 - 88801621 Oct 12, 2018 (152)
64 ALFA NC_000016.10 - 88735213 Apr 26, 2021 (155)
65 ClinVar RCV001811589.3 Oct 16, 2022 (156)
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
70709611, 39229320, 2885175, 11527488, 1506721, 17487481, 41840155, 267594, 39229320, ss339487223, ss491513234, ss713331707, ss780722143, ss783397911, ss992818308, ss1357509719, ss1635094905, ss1678088938, ss1692466204, ss1752212277, ss1917911517, ss1946423598, ss1959709791, ss2742237306, ss2749623510, ss2946554211, ss2985079675, ss3021740006, ss3627600034, ss3634657882, ss3640365202, ss3644676690, ss3652152343, ss3653851749, ss3744436454, ss3744958251, ss3754326931, ss3772456376, ss3825049568, ss3825886494, ss3934662761, ss3984718056, ss5237570049, ss5315864920, ss5425738884, ss5846841378, ss5847782989, ss5950936094, ss5979496132 NC_000016.9:88801620:G:A NC_000016.10:88735212:G:A (self)
RCV001811589.3, 92789800, 498627908, 34572407, 1123825, 241754597, 13022439736, ss2214719606, ss3699879525, ss3725590018, ss3771902356, ss3978194406, ss5026208936, ss5302060052, ss5605263865, ss5900352547 NC_000016.10:88735212:G:A NC_000016.10:88735212: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 rs146505418

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.post774+babeb33