Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

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.

rs1553432

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr4:99502293 (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
A>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.048593 (12862/264690, TOPMED)
G=0.049178 (6895/140204, GnomAD)
G=0.02877 (2264/78698, PAGE_STUDY) (+ 16 more)
G=0.05959 (1165/19550, ALFA)
G=0.0206 (132/6404, 1000G_30x)
G=0.0194 (97/5008, 1000G)
G=0.0777 (348/4480, Estonian)
G=0.0662 (255/3854, ALSPAC)
G=0.0615 (228/3708, TWINSUK)
G=0.0003 (1/2920, KOREAN)
G=0.0005 (1/1832, Korea1K)
G=0.064 (64/998, GoNL)
G=0.057 (34/600, NorthernSweden)
G=0.097 (21/216, Qatari)
A=0.50 (24/48, SGDP_PRJ)
G=0.50 (24/48, SGDP_PRJ)
G=0.10 (4/40, GENOME_DK)
A=0.5 (2/4, Siberian)
G=0.5 (2/4, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
None
Publications
1 citation
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 19550 A=0.94041 G=0.05959
European Sub 14364 A=0.92753 G=0.07247
African Sub 3380 A=0.9896 G=0.0104
African Others Sub 114 A=1.000 G=0.000
African American Sub 3266 A=0.9893 G=0.0107
Asian Sub 146 A=1.000 G=0.000
East Asian Sub 120 A=1.000 G=0.000
Other Asian Sub 26 A=1.00 G=0.00
Latin American 1 Sub 146 A=0.890 G=0.110
Latin American 2 Sub 610 A=0.957 G=0.043
South Asian Sub 104 A=0.952 G=0.048
Other Sub 800 A=0.948 G=0.052


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 A=0.951407 G=0.048593
gnomAD - Genomes Global Study-wide 140204 A=0.950822 G=0.049178
gnomAD - Genomes European Sub 75916 A=0.93598 G=0.06402
gnomAD - Genomes African Sub 42042 A=0.98768 G=0.01232
gnomAD - Genomes American Sub 13640 A=0.94370 G=0.05630
gnomAD - Genomes Ashkenazi Jewish Sub 3324 A=0.8120 G=0.1880
gnomAD - Genomes East Asian Sub 3134 A=0.9997 G=0.0003
gnomAD - Genomes Other Sub 2148 A=0.9427 G=0.0573
The PAGE Study Global Study-wide 78698 A=0.97123 G=0.02877
The PAGE Study AfricanAmerican Sub 32514 A=0.98564 G=0.01436
The PAGE Study Mexican Sub 10810 A=0.95606 G=0.04394
The PAGE Study Asian Sub 8318 A=0.9994 G=0.0006
The PAGE Study PuertoRican Sub 7916 A=0.9420 G=0.0580
The PAGE Study NativeHawaiian Sub 4534 A=0.9762 G=0.0238
The PAGE Study Cuban Sub 4230 A=0.9400 G=0.0600
The PAGE Study Dominican Sub 3828 A=0.9444 G=0.0556
The PAGE Study CentralAmerican Sub 2450 A=0.9592 G=0.0408
The PAGE Study SouthAmerican Sub 1982 A=0.9546 G=0.0454
The PAGE Study NativeAmerican Sub 1260 A=0.9524 G=0.0476
The PAGE Study SouthAsian Sub 856 A=0.961 G=0.039
Allele Frequency Aggregator Total Global 19550 A=0.94041 G=0.05959
Allele Frequency Aggregator European Sub 14364 A=0.92753 G=0.07247
Allele Frequency Aggregator African Sub 3380 A=0.9896 G=0.0104
Allele Frequency Aggregator Other Sub 800 A=0.948 G=0.052
Allele Frequency Aggregator Latin American 2 Sub 610 A=0.957 G=0.043
Allele Frequency Aggregator Latin American 1 Sub 146 A=0.890 G=0.110
Allele Frequency Aggregator Asian Sub 146 A=1.000 G=0.000
Allele Frequency Aggregator South Asian Sub 104 A=0.952 G=0.048
1000Genomes_30x Global Study-wide 6404 A=0.9794 G=0.0206
1000Genomes_30x African Sub 1786 A=1.0000 G=0.0000
1000Genomes_30x Europe Sub 1266 A=0.9423 G=0.0577
1000Genomes_30x South Asian Sub 1202 A=0.9884 G=0.0116
1000Genomes_30x East Asian Sub 1170 A=0.9991 G=0.0009
1000Genomes_30x American Sub 980 A=0.955 G=0.045
1000Genomes Global Study-wide 5008 A=0.9806 G=0.0194
1000Genomes African Sub 1322 A=1.0000 G=0.0000
1000Genomes East Asian Sub 1008 A=0.9990 G=0.0010
1000Genomes Europe Sub 1006 A=0.9493 G=0.0507
1000Genomes South Asian Sub 978 A=0.987 G=0.013
1000Genomes American Sub 694 A=0.954 G=0.046
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.9223 G=0.0777
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.9338 G=0.0662
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.9385 G=0.0615
KOREAN population from KRGDB KOREAN Study-wide 2920 A=0.9997 G=0.0003
Korean Genome Project KOREAN Study-wide 1832 A=0.9995 G=0.0005
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.936 G=0.064
Northern Sweden ACPOP Study-wide 600 A=0.943 G=0.057
Qatari Global Study-wide 216 A=0.903 G=0.097
SGDP_PRJ Global Study-wide 48 A=0.50 G=0.50
The Danish reference pan genome Danish Study-wide 40 A=0.90 G=0.10
Siberian Global Study-wide 4 A=0.5 G=0.5
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 4 NC_000004.12:g.99502293A>G
GRCh37.p13 chr 4 NC_000004.11:g.100423450A>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
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 A= G
GRCh38.p14 chr 4 NC_000004.12:g.99502293= NC_000004.12:g.99502293A>G
GRCh37.p13 chr 4 NC_000004.11:g.100423450= NC_000004.11:g.100423450A>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#.

42 SubSNP, 17 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss2396500 Oct 23, 2000 (88)
2 ABI ss42306088 Mar 15, 2006 (126)
3 COMPLETE_GENOMICS ss162381528 Jul 04, 2010 (132)
4 1000GENOMES ss232515931 Jul 14, 2010 (132)
5 EVA-GONL ss980452352 Aug 21, 2014 (142)
6 JMKIDD_LAB ss1071788700 Aug 21, 2014 (142)
7 1000GENOMES ss1310986879 Aug 21, 2014 (142)
8 DDI ss1429983483 Apr 01, 2015 (144)
9 EVA_GENOME_DK ss1580688420 Apr 01, 2015 (144)
10 EVA_DECODE ss1589956457 Apr 01, 2015 (144)
11 EVA_UK10K_ALSPAC ss1610740517 Apr 01, 2015 (144)
12 EVA_UK10K_TWINSUK ss1653734550 Apr 01, 2015 (144)
13 WEILL_CORNELL_DGM ss1923692243 Feb 12, 2016 (147)
14 ILLUMINA ss1958707123 Feb 12, 2016 (147)
15 JJLAB ss2022432240 Sep 14, 2016 (149)
16 USC_VALOUEV ss2150561434 Dec 20, 2016 (150)
17 HUMAN_LONGEVITY ss2265440529 Dec 20, 2016 (150)
18 GNOMAD ss2812875229 Nov 08, 2017 (151)
19 SWEGEN ss2995213571 Nov 08, 2017 (151)
20 ILLUMINA ss3022398786 Nov 08, 2017 (151)
21 BIOINF_KMB_FNS_UNIBA ss3024991453 Nov 08, 2017 (151)
22 CSHL ss3345862845 Nov 08, 2017 (151)
23 ILLUMINA ss3652885036 Oct 12, 2018 (152)
24 EGCUT_WGS ss3663109754 Jul 13, 2019 (153)
25 EVA_DECODE ss3712660478 Jul 13, 2019 (153)
26 ILLUMINA ss3726155865 Jul 13, 2019 (153)
27 ACPOP ss3731423619 Jul 13, 2019 (153)
28 PAGE_CC ss3771142698 Jul 13, 2019 (153)
29 EVA ss3828704663 Apr 26, 2020 (154)
30 SGDP_PRJ ss3859614418 Apr 26, 2020 (154)
31 KRGDB ss3905891768 Apr 26, 2020 (154)
32 KOGIC ss3954745200 Apr 26, 2020 (154)
33 TOPMED ss4624706234 Apr 25, 2021 (155)
34 1000G_HIGH_COVERAGE ss5260294398 Oct 13, 2022 (156)
35 EVA ss5350987021 Oct 13, 2022 (156)
36 HUGCELL_USP ss5458936313 Oct 13, 2022 (156)
37 EVA ss5507642331 Oct 13, 2022 (156)
38 1000G_HIGH_COVERAGE ss5541965585 Oct 13, 2022 (156)
39 SANFORD_IMAGENETICS ss5635669309 Oct 13, 2022 (156)
40 EVA ss5844426934 Oct 13, 2022 (156)
41 EVA ss5864684036 Oct 13, 2022 (156)
42 EVA ss5964060193 Oct 13, 2022 (156)
43 1000Genomes NC_000004.11 - 100423450 Oct 12, 2018 (152)
44 1000Genomes_30x NC_000004.12 - 99502293 Oct 13, 2022 (156)
45 The Avon Longitudinal Study of Parents and Children NC_000004.11 - 100423450 Oct 12, 2018 (152)
46 Genetic variation in the Estonian population NC_000004.11 - 100423450 Oct 12, 2018 (152)
47 The Danish reference pan genome NC_000004.11 - 100423450 Apr 26, 2020 (154)
48 gnomAD - Genomes NC_000004.12 - 99502293 Apr 25, 2021 (155)
49 Genome of the Netherlands Release 5 NC_000004.11 - 100423450 Apr 26, 2020 (154)
50 KOREAN population from KRGDB NC_000004.11 - 100423450 Apr 26, 2020 (154)
51 Korean Genome Project NC_000004.12 - 99502293 Apr 26, 2020 (154)
52 Northern Sweden NC_000004.11 - 100423450 Jul 13, 2019 (153)
53 The PAGE Study NC_000004.12 - 99502293 Jul 13, 2019 (153)
54 Qatari NC_000004.11 - 100423450 Apr 26, 2020 (154)
55 SGDP_PRJ NC_000004.11 - 100423450 Apr 26, 2020 (154)
56 Siberian NC_000004.11 - 100423450 Apr 26, 2020 (154)
57 TopMed NC_000004.12 - 99502293 Apr 25, 2021 (155)
58 UK 10K study - Twins NC_000004.11 - 100423450 Oct 12, 2018 (152)
59 ALFA NC_000004.12 - 99502293 Apr 25, 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
ss162381528, ss1589956457 NC_000004.10:100642472:A:G NC_000004.12:99502292:A:G (self)
22429299, 12477086, 8848002, 6853359, 5515799, 13069162, 4708484, 5734173, 11631398, 3077788, 12477086, ss232515931, ss980452352, ss1071788700, ss1310986879, ss1429983483, ss1580688420, ss1610740517, ss1653734550, ss1923692243, ss1958707123, ss2022432240, ss2150561434, ss2812875229, ss2995213571, ss3022398786, ss3345862845, ss3652885036, ss3663109754, ss3731423619, ss3828704663, ss3859614418, ss3905891768, ss5350987021, ss5507642331, ss5635669309, ss5844426934, ss5964060193 NC_000004.11:100423449:A:G NC_000004.12:99502292:A:G (self)
29491520, 158886849, 11123201, 364167, 462083790, 10554800337, ss2265440529, ss3024991453, ss3712660478, ss3726155865, ss3771142698, ss3954745200, ss4624706234, ss5260294398, ss5458936313, ss5541965585, ss5864684036 NC_000004.12:99502292:A:G NC_000004.12:99502292:A:G (self)
ss2396500, ss42306088 NT_016354.19:24971170:A:G NC_000004.12:99502292:A:G (self)
Help

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

1 citation for rs1553432
PMID Title Author Year Journal
14615589 Haplotype-based identification of a microsomal transfer protein marker associated with the human lifespan. Geesaman BJ et al. 2003 Proceedings of the National Academy of Sciences of the United States of America
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