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.

rs1479769544

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr2:229922574 (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>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.000008 (2/264690, TOPMED)
C=0.000014 (2/140214, GnomAD)
C=0.00007 (1/14050, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
FBXO36 : Missense Variant
TRIP12 : 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 Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 30408 A=0.99993 C=0.00007 0.999868 0.0 0.000132 0
European Sub 19776 A=0.99990 C=0.00010 0.999798 0.0 0.000202 0
African Sub 7736 A=1.0000 C=0.0000 1.0 0.0 0.0 N/A
African Others Sub 298 A=1.000 C=0.000 1.0 0.0 0.0 N/A
African American Sub 7438 A=1.0000 C=0.0000 1.0 0.0 0.0 N/A
Asian Sub 112 A=1.000 C=0.000 1.0 0.0 0.0 N/A
East Asian Sub 86 A=1.00 C=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 26 A=1.00 C=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 A=1.000 C=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 A=1.000 C=0.000 1.0 0.0 0.0 N/A
South Asian Sub 98 A=1.00 C=0.00 1.0 0.0 0.0 N/A
Other Sub 1930 A=1.0000 C=0.0000 1.0 0.0 0.0 N/A


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=0.999992 C=0.000008
gnomAD - Genomes Global Study-wide 140214 A=0.999986 C=0.000014
gnomAD - Genomes European Sub 75932 A=0.99997 C=0.00003
gnomAD - Genomes African Sub 42022 A=1.00000 C=0.00000
gnomAD - Genomes American Sub 13650 A=1.00000 C=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3324 A=1.0000 C=0.0000
gnomAD - Genomes East Asian Sub 3134 A=1.0000 C=0.0000
gnomAD - Genomes Other Sub 2152 A=1.0000 C=0.0000
Allele Frequency Aggregator Total Global 14050 A=0.99993 C=0.00007
Allele Frequency Aggregator European Sub 9690 A=0.9999 C=0.0001
Allele Frequency Aggregator African Sub 2898 A=1.0000 C=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 A=1.000 C=0.000
Allele Frequency Aggregator Other Sub 496 A=1.000 C=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 A=1.000 C=0.000
Allele Frequency Aggregator Asian Sub 112 A=1.000 C=0.000
Allele Frequency Aggregator South Asian Sub 98 A=1.00 C=0.00
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 2 NC_000002.12:g.229922574A>C
GRCh37.p13 chr 2 NC_000002.11:g.230787290A>C
TRIP12 RefSeqGene NG_053017.1:g.5661T>G
Gene: TRIP12, thyroid hormone receptor interactor 12 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
TRIP12 transcript variant 24 NM_001348335.2:c.-50+574T…

NM_001348335.2:c.-50+574T>G

 		N/A Intron Variant
TRIP12 transcript variant 1 NM_001284214.2:c. N/A Genic Upstream Transcript Variant
TRIP12 transcript variant 2 NM_001284215.2:c. N/A Genic Upstream Transcript Variant
TRIP12 transcript variant 4 NM_001284216.2:c. N/A Genic Upstream Transcript Variant
TRIP12 transcript variant 5 NM_001348315.2:c. N/A Genic Upstream Transcript Variant
TRIP12 transcript variant 6 NM_001348316.2:c. N/A Genic Upstream Transcript Variant
TRIP12 transcript variant 7 NM_001348317.1:c. N/A Genic Upstream Transcript Variant
TRIP12 transcript variant 8 NM_001348318.2:c. N/A Genic Upstream Transcript Variant
TRIP12 transcript variant 9 NM_001348319.1:c. N/A Genic Upstream Transcript Variant
TRIP12 transcript variant 10 NM_001348320.2:c. N/A Genic Upstream Transcript Variant
TRIP12 transcript variant 11 NM_001348321.1:c. N/A Genic Upstream Transcript Variant
TRIP12 transcript variant 12 NM_001348322.1:c. N/A Genic Upstream Transcript Variant
TRIP12 transcript variant 13 NM_001348323.3:c. N/A Genic Upstream Transcript Variant
TRIP12 transcript variant 14 NM_001348324.2:c. N/A Genic Upstream Transcript Variant
TRIP12 transcript variant 15 NM_001348325.2:c. N/A Genic Upstream Transcript Variant
TRIP12 transcript variant 16 NM_001348326.2:c. N/A Genic Upstream Transcript Variant
TRIP12 transcript variant 17 NM_001348327.2:c. N/A Genic Upstream Transcript Variant
TRIP12 transcript variant 18 NM_001348328.1:c. N/A Genic Upstream Transcript Variant
TRIP12 transcript variant 19 NM_001348329.2:c. N/A Genic Upstream Transcript Variant
TRIP12 transcript variant 20 NM_001348330.2:c. N/A Genic Upstream Transcript Variant
TRIP12 transcript variant 21 NM_001348331.1:c. N/A Genic Upstream Transcript Variant
TRIP12 transcript variant 22 NM_001348332.1:c. N/A Genic Upstream Transcript Variant
TRIP12 transcript variant 23 NM_001348333.1:c. N/A Genic Upstream Transcript Variant
TRIP12 transcript variant 26 NM_001348334.1:c. N/A Genic Upstream Transcript Variant
TRIP12 transcript variant 25 NM_001348336.1:c. N/A Genic Upstream Transcript Variant
TRIP12 transcript variant 3 NM_004238.3:c. N/A Genic Upstream Transcript Variant
TRIP12 transcript variant X16 XM_005246961.5:c. N/A Genic Upstream Transcript Variant
TRIP12 transcript variant X12 XM_017005283.3:c. N/A Genic Upstream Transcript Variant
TRIP12 transcript variant X22 XM_017005290.3:c. N/A Genic Upstream Transcript Variant
TRIP12 transcript variant X1 XM_047446353.1:c. N/A Genic Upstream Transcript Variant
TRIP12 transcript variant X2 XM_047446354.1:c. N/A Genic Upstream Transcript Variant
TRIP12 transcript variant X3 XM_047446355.1:c. N/A Genic Upstream Transcript Variant
TRIP12 transcript variant X4 XM_047446356.1:c. N/A Genic Upstream Transcript Variant
TRIP12 transcript variant X5 XM_047446358.1:c. N/A Genic Upstream Transcript Variant
TRIP12 transcript variant X6 XM_047446360.1:c. N/A Genic Upstream Transcript Variant
TRIP12 transcript variant X7 XM_047446361.1:c. N/A Genic Upstream Transcript Variant
TRIP12 transcript variant X8 XM_047446362.1:c. N/A Genic Upstream Transcript Variant
TRIP12 transcript variant X9 XM_047446363.1:c. N/A Genic Upstream Transcript Variant
TRIP12 transcript variant X10 XM_047446366.1:c. N/A Genic Upstream Transcript Variant
TRIP12 transcript variant X11 XM_047446368.1:c. N/A Genic Upstream Transcript Variant
TRIP12 transcript variant X13 XM_047446371.1:c. N/A Genic Upstream Transcript Variant
TRIP12 transcript variant X14 XM_047446372.1:c. N/A Genic Upstream Transcript Variant
TRIP12 transcript variant X15 XM_047446373.1:c. N/A Genic Upstream Transcript Variant
TRIP12 transcript variant X17 XM_047446374.1:c. N/A Genic Upstream Transcript Variant
TRIP12 transcript variant X18 XM_047446375.1:c. N/A Genic Upstream Transcript Variant
TRIP12 transcript variant X19 XM_047446376.1:c. N/A Genic Upstream Transcript Variant
TRIP12 transcript variant X20 XM_047446377.1:c. N/A Genic Upstream Transcript Variant
TRIP12 transcript variant X21 XM_047446378.1:c. N/A Genic Upstream Transcript Variant
TRIP12 transcript variant X23 XM_047446379.1:c. N/A Genic Upstream Transcript Variant
TRIP12 transcript variant X24 XM_047446380.1:c. N/A Genic Upstream Transcript Variant
TRIP12 transcript variant X25 XM_047446381.1:c. N/A Genic Upstream Transcript Variant
TRIP12 transcript variant X26 XM_047446382.1:c. N/A Genic Upstream Transcript Variant
TRIP12 transcript variant X27 XM_047446383.1:c. N/A Genic Upstream Transcript Variant
TRIP12 transcript variant X28 XM_047446384.1:c. N/A Genic Upstream Transcript Variant
TRIP12 transcript variant X29 XM_047446385.1:c. N/A Genic Upstream Transcript Variant
TRIP12 transcript variant X30 XM_047446386.1:c. N/A Genic Upstream Transcript Variant
TRIP12 transcript variant X31 XM_047446390.1:c. N/A Genic Upstream Transcript Variant
TRIP12 transcript variant X32 XM_047446395.1:c. N/A Genic Upstream Transcript Variant
TRIP12 transcript variant X33 XM_047446396.1:c. N/A Genic Upstream Transcript Variant
TRIP12 transcript variant X34 XM_047446397.1:c. N/A Genic Upstream Transcript Variant
TRIP12 transcript variant X35 XM_047446398.1:c. N/A Genic Upstream Transcript Variant
Gene: FBXO36, F-box protein 36 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
FBXO36 transcript NM_174899.5:c.61A>C K [AAA] > Q [CAA] Coding Sequence Variant
F-box only protein 36 NP_777559.3:p.Lys21Gln K (Lys) > Q (Gln) Missense Variant
FBXO36 transcript variant X1 XM_005246317.3:c. N/A Genic Upstream Transcript 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 A= C
GRCh38.p14 chr 2 NC_000002.12:g.229922574= NC_000002.12:g.229922574A>C
GRCh37.p13 chr 2 NC_000002.11:g.230787290= NC_000002.11:g.230787290A>C
TRIP12 RefSeqGene NG_053017.1:g.5661= NG_053017.1:g.5661T>G
FBXO36 transcript NM_174899.5:c.61= NM_174899.5:c.61A>C
FBXO36 transcript NM_174899.4:c.61= NM_174899.4:c.61A>C
F-box only protein 36 NP_777559.3:p.Lys21= NP_777559.3:p.Lys21Gln
TRIP12 transcript variant 24 NM_001348335.2:c.-50+574= NM_001348335.2:c.-50+574T>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#.

3 SubSNP, 3 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2746898073 Nov 08, 2017 (151)
2 GNOMAD ss2787386281 Nov 08, 2017 (151)
3 TOPMED ss4547899825 Apr 26, 2021 (155)
4 gnomAD - Genomes NC_000002.12 - 229922574 Apr 26, 2021 (155)
5 TopMed NC_000002.12 - 229922574 Apr 26, 2021 (155)
6 ALFA NC_000002.12 - 229922574 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
ss2746898073, ss2787386281 NC_000002.11:230787289:A:C NC_000002.12:229922573:A:C (self)
93642465, 351722704, 6684107124, ss4547899825 NC_000002.12:229922573:A:C NC_000002.12:229922573:A: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 rs1479769544

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.post820+afb47a3d