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dbSNP Short Genetic Variations

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.

rs766133734

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr5:14286982 (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>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.000004 (1/251456, GnomAD_exome)
G=0.000008 (1/121404, ExAC)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
TRIO : Missense Variant
Publications
0 citations
Genomic View
See rs on genome
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
gnomAD - Exomes Global Study-wide 251456 C=0.999996 G=0.000004
gnomAD - Exomes European Sub 135382 C=0.999993 G=0.000007
gnomAD - Exomes Asian Sub 49010 C=1.00000 G=0.00000
gnomAD - Exomes American Sub 34590 C=1.00000 G=0.00000
gnomAD - Exomes African Sub 16256 C=1.00000 G=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10080 C=1.00000 G=0.00000
gnomAD - Exomes Other Sub 6138 C=1.0000 G=0.0000
ExAC Global Study-wide 121404 C=0.999992 G=0.000008
ExAC Europe Sub 73348 C=0.99999 G=0.00001
ExAC Asian Sub 25164 C=1.00000 G=0.00000
ExAC American Sub 11578 C=1.00000 G=0.00000
ExAC African Sub 10406 C=1.00000 G=0.00000
ExAC Other Sub 908 C=1.000 G=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 5 NC_000005.10:g.14286982C>G
GRCh37.p13 chr 5 NC_000005.9:g.14287091C>G
TRIO RefSeqGene NG_052962.1:g.148281C>G
Gene: TRIO, trio Rho guanine nucleotide exchange factor (plus strand)
Molecule type Change Amino acid[Codon] SO Term
TRIO transcript variant 1 NM_007118.4:c.459C>G I [ATC] > M [ATG] Coding Sequence Variant
triple functional domain protein NP_009049.2:p.Ile153Met I (Ile) > M (Met) Missense Variant
TRIO transcript variant 2 NR_134469.2:n.843C>G N/A Non Coding Transcript Variant
TRIO transcript variant X9 XM_017009803.2:c. N/A Genic Upstream Transcript Variant
TRIO transcript variant X1 XM_017009801.2:c.459C>G I [ATC] > M [ATG] Coding Sequence Variant
triple functional domain protein isoform X1 XP_016865290.1:p.Ile153Met I (Ile) > M (Met) Missense Variant
TRIO transcript variant X2 XM_011514107.3:c.396C>G I [ATC] > M [ATG] Coding Sequence Variant
triple functional domain protein isoform X2 XP_011512409.1:p.Ile132Met I (Ile) > M (Met) Missense Variant
TRIO transcript variant X3 XM_047417679.1:c.396C>G I [ATC] > M [ATG] Coding Sequence Variant
triple functional domain protein isoform X2 XP_047273635.1:p.Ile132Met I (Ile) > M (Met) Missense Variant
TRIO transcript variant X4 XM_011514108.2:c.342C>G I [ATC] > M [ATG] Coding Sequence Variant
triple functional domain protein isoform X3 XP_011512410.1:p.Ile114Met I (Ile) > M (Met) Missense Variant
TRIO transcript variant X5 XM_011514109.4:c.312C>G I [ATC] > M [ATG] Coding Sequence Variant
triple functional domain protein isoform X4 XP_011512411.1:p.Ile104Met I (Ile) > M (Met) Missense Variant
TRIO transcript variant X6 XM_011514110.4:c.282C>G I [ATC] > M [ATG] Coding Sequence Variant
triple functional domain protein isoform X5 XP_011512412.1:p.Ile94Met I (Ile) > M (Met) Missense Variant
TRIO transcript variant X7 XM_017009802.2:c.459C>G I [ATC] > M [ATG] Coding Sequence Variant
triple functional domain protein isoform X6 XP_016865291.1:p.Ile153Met I (Ile) > M (Met) Missense Variant
TRIO transcript variant X8 XM_047417681.1:c.459C>G I [ATC] > M [ATG] Coding Sequence Variant
triple functional domain protein isoform X7 XP_047273637.1:p.Ile153Met I (Ile) > M (Met) Missense 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= G
GRCh38.p14 chr 5 NC_000005.10:g.14286982= NC_000005.10:g.14286982C>G
GRCh37.p13 chr 5 NC_000005.9:g.14287091= NC_000005.9:g.14287091C>G
TRIO RefSeqGene NG_052962.1:g.148281= NG_052962.1:g.148281C>G
TRIO transcript variant 1 NM_007118.4:c.459= NM_007118.4:c.459C>G
TRIO transcript variant 1 NM_007118.3:c.459= NM_007118.3:c.459C>G
TRIO transcript NM_007118.2:c.459= NM_007118.2:c.459C>G
TRIO transcript variant 2 NR_134469.2:n.843= NR_134469.2:n.843C>G
TRIO transcript variant 2 NR_134469.1:n.483= NR_134469.1:n.483C>G
TRIO transcript variant X5 XM_011514109.4:c.312= XM_011514109.4:c.312C>G
TRIO transcript variant X4 XM_011514109.3:c.312= XM_011514109.3:c.312C>G
TRIO transcript variant X4 XM_011514109.2:c.312= XM_011514109.2:c.312C>G
TRIO transcript variant X3 XM_011514109.1:c.312= XM_011514109.1:c.312C>G
TRIO transcript variant X6 XM_011514110.4:c.282= XM_011514110.4:c.282C>G
TRIO transcript variant X5 XM_011514110.3:c.282= XM_011514110.3:c.282C>G
TRIO transcript variant X5 XM_011514110.2:c.282= XM_011514110.2:c.282C>G
TRIO transcript variant X4 XM_011514110.1:c.282= XM_011514110.1:c.282C>G
TRIO transcript variant X2 XM_011514107.3:c.396= XM_011514107.3:c.396C>G
TRIO transcript variant X2 XM_011514107.2:c.396= XM_011514107.2:c.396C>G
TRIO transcript variant X1 XM_011514107.1:c.396= XM_011514107.1:c.396C>G
TRIO transcript variant X1 XM_017009801.2:c.459= XM_017009801.2:c.459C>G
TRIO transcript variant X1 XM_017009801.1:c.459= XM_017009801.1:c.459C>G
TRIO transcript variant X7 XM_017009802.2:c.459= XM_017009802.2:c.459C>G
TRIO transcript variant X6 XM_017009802.1:c.459= XM_017009802.1:c.459C>G
TRIO transcript variant X4 XM_011514108.2:c.342= XM_011514108.2:c.342C>G
TRIO transcript variant X3 XM_011514108.1:c.342= XM_011514108.1:c.342C>G
TRIO transcript variant X3 XM_047417679.1:c.396= XM_047417679.1:c.396C>G
TRIO transcript variant X8 XM_047417681.1:c.459= XM_047417681.1:c.459C>G
triple functional domain protein NP_009049.2:p.Ile153= NP_009049.2:p.Ile153Met
triple functional domain protein isoform X4 XP_011512411.1:p.Ile104= XP_011512411.1:p.Ile104Met
triple functional domain protein isoform X5 XP_011512412.1:p.Ile94= XP_011512412.1:p.Ile94Met
triple functional domain protein isoform X2 XP_011512409.1:p.Ile132= XP_011512409.1:p.Ile132Met
triple functional domain protein isoform X1 XP_016865290.1:p.Ile153= XP_016865290.1:p.Ile153Met
triple functional domain protein isoform X6 XP_016865291.1:p.Ile153= XP_016865291.1:p.Ile153Met
triple functional domain protein isoform X3 XP_011512410.1:p.Ile114= XP_011512410.1:p.Ile114Met
triple functional domain protein isoform X2 XP_047273635.1:p.Ile132= XP_047273635.1:p.Ile132Met
triple functional domain protein isoform X7 XP_047273637.1:p.Ile153= XP_047273637.1:p.Ile153Met
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#.

2 SubSNP, 2 Frequency submissions
No Submitter Submission ID Date (Build)
1 EVA_EXAC ss1687755891 Apr 01, 2015 (144)
2 GNOMAD ss2734916754 Nov 08, 2017 (151)
3 ExAC NC_000005.9 - 14287091 Oct 12, 2018 (152)
4 gnomAD - Exomes NC_000005.9 - 14287091 Jul 13, 2019 (153)
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
7742257, 4032405, ss1687755891, ss2734916754 NC_000005.9:14287090:C:G NC_000005.10:14286981:C:G (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 rs766133734

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