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.

rs145193058

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr4:1212257 (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
C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.000034 (9/264690, TOPMED)
T=0.000037 (5/135132, GnomAD)
T=0.00007 (2/28816, ALFA) (+ 4 more)
T=0.00013 (2/15304, ExAC)
T=0.00008 (1/12816, GO-ESP)
T=0.0003 (2/6404, 1000G_30x)
T=0.0002 (1/5008, 1000G)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
CTBP1 : Missense Variant
CTBP1-AS : Non Coding Transcript 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 45166 C=0.99991 T=0.00009
European Sub 31226 C=0.99987 T=0.00013
African Sub 7756 C=1.0000 T=0.0000
African Others Sub 298 C=1.000 T=0.000
African American Sub 7458 C=1.0000 T=0.0000
Asian Sub 112 C=1.000 T=0.000
East Asian Sub 86 C=1.00 T=0.00
Other Asian Sub 26 C=1.00 T=0.00
Latin American 1 Sub 500 C=1.000 T=0.000
Latin American 2 Sub 628 C=1.000 T=0.000
South Asian Sub 98 C=1.00 T=0.00
Other Sub 4846 C=1.0000 T=0.0000


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 C=0.999966 T=0.000034
gnomAD - Genomes Global Study-wide 135132 C=0.999963 T=0.000037
gnomAD - Genomes European Sub 71788 C=0.99994 T=0.00006
gnomAD - Genomes African Sub 41572 C=0.99998 T=0.00002
gnomAD - Genomes American Sub 13494 C=1.00000 T=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3174 C=1.0000 T=0.0000
gnomAD - Genomes East Asian Sub 3018 C=1.0000 T=0.0000
gnomAD - Genomes Other Sub 2086 C=1.0000 T=0.0000
Allele Frequency Aggregator Total Global 28816 C=0.99993 T=0.00007
Allele Frequency Aggregator European Sub 21142 C=0.99991 T=0.00009
Allele Frequency Aggregator Other Sub 3418 C=1.0000 T=0.0000
Allele Frequency Aggregator African Sub 2918 C=1.0000 T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 628 C=1.000 T=0.000
Allele Frequency Aggregator Latin American 1 Sub 500 C=1.000 T=0.000
Allele Frequency Aggregator Asian Sub 112 C=1.000 T=0.000
Allele Frequency Aggregator South Asian Sub 98 C=1.00 T=0.00
ExAC Global Study-wide 15304 C=0.99987 T=0.00013
ExAC Europe Sub 7928 C=0.9999 T=0.0001
ExAC Asian Sub 4026 C=1.0000 T=0.0000
ExAC African Sub 2556 C=0.9996 T=0.0004
ExAC American Sub 674 C=1.000 T=0.000
ExAC Other Sub 120 C=1.000 T=0.000
GO Exome Sequencing Project Global Study-wide 12816 C=0.99992 T=0.00008
GO Exome Sequencing Project European American Sub 8514 C=1.0000 T=0.0000
GO Exome Sequencing Project African American Sub 4302 C=0.9998 T=0.0002
1000Genomes_30x Global Study-wide 6404 C=0.9997 T=0.0003
1000Genomes_30x African Sub 1786 C=0.9989 T=0.0011
1000Genomes_30x Europe Sub 1266 C=1.0000 T=0.0000
1000Genomes_30x South Asian Sub 1202 C=1.0000 T=0.0000
1000Genomes_30x East Asian Sub 1170 C=1.0000 T=0.0000
1000Genomes_30x American Sub 980 C=1.000 T=0.000
1000Genomes Global Study-wide 5008 C=0.9998 T=0.0002
1000Genomes African Sub 1322 C=0.9992 T=0.0008
1000Genomes East Asian Sub 1008 C=1.0000 T=0.0000
1000Genomes Europe Sub 1006 C=1.0000 T=0.0000
1000Genomes South Asian Sub 978 C=1.000 T=0.000
1000Genomes American Sub 694 C=1.000 T=0.000
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.1212257C>T
GRCh37.p13 chr 4 NC_000004.11:g.1206045C>T
CTBP1 RefSeqGene NG_052824.1:g.43073G>A
Gene: CTBP1, C-terminal binding protein 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
CTBP1 transcript variant 1 NM_001328.3:c.1306G>A A [GCC] > T [ACC] Coding Sequence Variant
C-terminal-binding protein 1 isoform 1 NP_001319.1:p.Ala436Thr A (Ala) > T (Thr) Missense Variant
CTBP1 transcript variant 2 NM_001012614.2:c.1273G>A A [GCC] > T [ACC] Coding Sequence Variant
C-terminal-binding protein 1 isoform 2 NP_001012632.1:p.Ala425Thr A (Ala) > T (Thr) Missense Variant
CTBP1 transcript variant 6 NM_001377189.1:c.1276G>A A [GCC] > T [ACC] Coding Sequence Variant
C-terminal-binding protein 1 isoform 4 NP_001364118.1:p.Ala426Thr A (Ala) > T (Thr) Missense Variant
CTBP1 transcript variant 10 NM_001377193.1:c.1273G>A A [GCC] > T [ACC] Coding Sequence Variant
C-terminal-binding protein 1 isoform 2 NP_001364122.1:p.Ala425Thr A (Ala) > T (Thr) Missense Variant
CTBP1 transcript variant 7 NM_001377190.1:c.1276G>A A [GCC] > T [ACC] Coding Sequence Variant
C-terminal-binding protein 1 isoform 4 NP_001364119.1:p.Ala426Thr A (Ala) > T (Thr) Missense Variant
CTBP1 transcript variant 8 NM_001377191.1:c.1273G>A A [GCC] > T [ACC] Coding Sequence Variant
C-terminal-binding protein 1 isoform 2 NP_001364120.1:p.Ala425Thr A (Ala) > T (Thr) Missense Variant
CTBP1 transcript variant 4 NM_001377187.1:c.1276G>A A [GCC] > T [ACC] Coding Sequence Variant
C-terminal-binding protein 1 isoform 4 NP_001364116.1:p.Ala426Thr A (Ala) > T (Thr) Missense Variant
CTBP1 transcript variant 3 NM_001377186.1:c.1309G>A A [GCC] > T [ACC] Coding Sequence Variant
C-terminal-binding protein 1 isoform 3 NP_001364115.1:p.Ala437Thr A (Ala) > T (Thr) Missense Variant
CTBP1 transcript variant 5 NM_001377188.1:c.1276G>A A [GCC] > T [ACC] Coding Sequence Variant
C-terminal-binding protein 1 isoform 4 NP_001364117.1:p.Ala426Thr A (Ala) > T (Thr) Missense Variant
CTBP1 transcript variant 9 NM_001377192.1:c.1273G>A A [GCC] > T [ACC] Coding Sequence Variant
C-terminal-binding protein 1 isoform 2 NP_001364121.1:p.Ala425Thr A (Ala) > T (Thr) Missense Variant
CTBP1 transcript variant X1 XM_047449633.1:c.1276G>A A [GCC] > T [ACC] Coding Sequence Variant
C-terminal-binding protein 1 isoform X1 XP_047305589.1:p.Ala426Thr A (Ala) > T (Thr) Missense Variant
CTBP1 transcript variant X2 XM_024453899.2:c.1087G>A A [GCC] > T [ACC] Coding Sequence Variant
C-terminal-binding protein 1 isoform X2 XP_024309667.1:p.Ala363Thr A (Ala) > T (Thr) Missense Variant
Gene: CTBP1-AS, CTBP1 antisense RNA (plus strand)
Molecule type Change Amino acid[Codon] SO Term
CTBP1-AS transcript NR_104331.1:n.730C>T N/A Non Coding 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 C= T
GRCh38.p14 chr 4 NC_000004.12:g.1212257= NC_000004.12:g.1212257C>T
GRCh37.p13 chr 4 NC_000004.11:g.1206045= NC_000004.11:g.1206045C>T
CTBP1 RefSeqGene NG_052824.1:g.43073= NG_052824.1:g.43073G>A
CTBP1 transcript variant 1 NM_001328.3:c.1306= NM_001328.3:c.1306G>A
CTBP1 transcript variant 1 NM_001328.2:c.1306= NM_001328.2:c.1306G>A
CTBP1 transcript variant 2 NM_001012614.2:c.1273= NM_001012614.2:c.1273G>A
CTBP1 transcript variant 2 NM_001012614.1:c.1273= NM_001012614.1:c.1273G>A
CTBP1 transcript variant 7 NM_001377190.1:c.1276= NM_001377190.1:c.1276G>A
CTBP1 transcript variant 10 NM_001377193.1:c.1273= NM_001377193.1:c.1273G>A
CTBP1 transcript variant 4 NM_001377187.1:c.1276= NM_001377187.1:c.1276G>A
CTBP1 transcript variant 6 NM_001377189.1:c.1276= NM_001377189.1:c.1276G>A
CTBP1 transcript variant 9 NM_001377192.1:c.1273= NM_001377192.1:c.1273G>A
CTBP1 transcript variant 5 NM_001377188.1:c.1276= NM_001377188.1:c.1276G>A
CTBP1 transcript variant 8 NM_001377191.1:c.1273= NM_001377191.1:c.1273G>A
CTBP1 transcript variant 3 NM_001377186.1:c.1309= NM_001377186.1:c.1309G>A
CTBP1 transcript variant X2 XM_024453899.2:c.1087= XM_024453899.2:c.1087G>A
CTBP1 transcript variant X11 XM_024453899.1:c.1087= XM_024453899.1:c.1087G>A
CTBP1-AS transcript NR_104331.1:n.730= NR_104331.1:n.730C>T
CTBP1 transcript variant X1 XM_047449633.1:c.1276= XM_047449633.1:c.1276G>A
C-terminal-binding protein 1 isoform 1 NP_001319.1:p.Ala436= NP_001319.1:p.Ala436Thr
C-terminal-binding protein 1 isoform 2 NP_001012632.1:p.Ala425= NP_001012632.1:p.Ala425Thr
C-terminal-binding protein 1 isoform 4 NP_001364119.1:p.Ala426= NP_001364119.1:p.Ala426Thr
C-terminal-binding protein 1 isoform 2 NP_001364122.1:p.Ala425= NP_001364122.1:p.Ala425Thr
C-terminal-binding protein 1 isoform 4 NP_001364116.1:p.Ala426= NP_001364116.1:p.Ala426Thr
C-terminal-binding protein 1 isoform 4 NP_001364118.1:p.Ala426= NP_001364118.1:p.Ala426Thr
C-terminal-binding protein 1 isoform 2 NP_001364121.1:p.Ala425= NP_001364121.1:p.Ala425Thr
C-terminal-binding protein 1 isoform 4 NP_001364117.1:p.Ala426= NP_001364117.1:p.Ala426Thr
C-terminal-binding protein 1 isoform 2 NP_001364120.1:p.Ala425= NP_001364120.1:p.Ala425Thr
C-terminal-binding protein 1 isoform 3 NP_001364115.1:p.Ala437= NP_001364115.1:p.Ala437Thr
C-terminal-binding protein 1 isoform X2 XP_024309667.1:p.Ala363= XP_024309667.1:p.Ala363Thr
C-terminal-binding protein 1 isoform X1 XP_047305589.1:p.Ala426= XP_047305589.1:p.Ala426Thr
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#.

11 SubSNP, 7 Frequency submissions
No Submitter Submission ID Date (Build)
1 NHLBI-ESP ss342157032 May 09, 2011 (134)
2 1000GENOMES ss1308073165 Aug 21, 2014 (142)
3 EVA_EXAC ss1687384048 Apr 01, 2015 (144)
4 GNOMAD ss2734338152 Nov 08, 2017 (151)
5 GNOMAD ss2747184019 Nov 08, 2017 (151)
6 GNOMAD ss2804644658 Nov 08, 2017 (151)
7 EVA ss3823992893 Apr 25, 2020 (154)
8 TOPMED ss4600050061 Apr 26, 2021 (155)
9 1000G_HIGH_COVERAGE ss5257728374 Oct 13, 2022 (156)
10 EVA ss5346347403 Oct 13, 2022 (156)
11 1000G_HIGH_COVERAGE ss5538020543 Oct 13, 2022 (156)
12 1000Genomes NC_000004.11 - 1206045 Oct 12, 2018 (152)
13 1000Genomes_30x NC_000004.12 - 1212257 Oct 13, 2022 (156)
14 ExAC NC_000004.11 - 1206045 Oct 12, 2018 (152)
15 gnomAD - Genomes NC_000004.12 - 1212257 Apr 26, 2021 (155)
16 GO Exome Sequencing Project NC_000004.11 - 1206045 Oct 12, 2018 (152)
17 TopMed NC_000004.12 - 1212257 Apr 26, 2021 (155)
18 ALFA NC_000004.12 - 1212257 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
19410619, 7339573, 451148, ss342157032, ss1308073165, ss1687384048, ss2734338152, ss2747184019, ss2804644658, ss3823992893, ss5346347403 NC_000004.11:1206044:C:T NC_000004.12:1212256:C:T (self)
25546478, 137799871, 437427617, 10993590237, ss4600050061, ss5257728374, ss5538020543 NC_000004.12:1212256:C:T NC_000004.12:1212256:C:T (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 rs145193058

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