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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.


Current Build 155

Released April 9, 2021

Homo sapiens
chr7:6387261 (GRCh38.p13) 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.

C>A / C>T
Variation Type
SNV Single Nucleotide Variation
Clinical Significance
Reported in ClinVar
Gene : Consequence
RAC1 : Missense Variant
2 citations
Genomic View
See rs on genome

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.p13 chr 7 NC_000007.14:g.6387261C>A
GRCh38.p13 chr 7 NC_000007.14:g.6387261C>T
GRCh37.p13 chr 7 NC_000007.13:g.6426892C>A
GRCh37.p13 chr 7 NC_000007.13:g.6426892C>T
RAC1 RefSeqGene NG_029431.1:g.17767C>A
RAC1 RefSeqGene NG_029431.1:g.17767C>T
Gene: RAC1, Rac family small GTPase 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
RAC1 transcript variant Rac1 NM_006908.5:c.85C>A P [CCT] > T [ACT] Coding Sequence Variant
ras-related C3 botulinum toxin substrate 1 isoform Rac1 NP_008839.2:p.Pro29Thr P (Pro) > T (Thr) Missense Variant
RAC1 transcript variant Rac1 NM_006908.5:c.85C>T P [CCT] > S [TCT] Coding Sequence Variant
ras-related C3 botulinum toxin substrate 1 isoform Rac1 NP_008839.2:p.Pro29Ser P (Pro) > S (Ser) Missense Variant
RAC1 transcript variant Rac1b NM_018890.4:c.85C>A P [CCT] > T [ACT] Coding Sequence Variant
ras-related C3 botulinum toxin substrate 1 isoform Rac1b NP_061485.1:p.Pro29Thr P (Pro) > T (Thr) Missense Variant
RAC1 transcript variant Rac1b NM_018890.4:c.85C>T P [CCT] > S [TCT] Coding Sequence Variant
ras-related C3 botulinum toxin substrate 1 isoform Rac1b NP_061485.1:p.Pro29Ser P (Pro) > S (Ser) Missense Variant

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: 363392 )
ClinVar Accession Disease Names Clinical Significance
RCV000426663.1 Squamous cell carcinoma of the head and neck Likely-Pathogenic
RCV000437331.1 Malignant melanoma of skin Likely-Pathogenic
RCV000443513.1 Squamous cell carcinoma of the skin Likely-Pathogenic
RCV000443658.1 Malignant neoplasm of body of uterus Likely-Pathogenic
Allele: T (allele ID: 363241 )
ClinVar Accession Disease Names Clinical Significance
RCV000421644.1 Squamous cell carcinoma of the head and neck Likely-Pathogenic
RCV000421823.1 Malignant neoplasm of body of uterus Likely-Pathogenic
RCV000424053.1 Melanoma Not-Provided
RCV000432514.1 Malignant melanoma of skin Likely-Pathogenic
RCV000438875.1 Squamous cell carcinoma of the skin Likely-Pathogenic

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").


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= A T
GRCh38.p13 chr 7 NC_000007.14:g.6387261= NC_000007.14:g.6387261C>A NC_000007.14:g.6387261C>T
GRCh37.p13 chr 7 NC_000007.13:g.6426892= NC_000007.13:g.6426892C>A NC_000007.13:g.6426892C>T
RAC1 RefSeqGene NG_029431.1:g.17767= NG_029431.1:g.17767C>A NG_029431.1:g.17767C>T
RAC1 transcript variant Rac1 NM_006908.5:c.85= NM_006908.5:c.85C>A NM_006908.5:c.85C>T
RAC1 transcript variant Rac1 NM_006908.4:c.85= NM_006908.4:c.85C>A NM_006908.4:c.85C>T
RAC1 transcript variant Rac1b NM_018890.4:c.85= NM_018890.4:c.85C>A NM_018890.4:c.85C>T
RAC1 transcript variant Rac1b NM_018890.3:c.85= NM_018890.3:c.85C>A NM_018890.3:c.85C>T
RAC1 transcript variant Rac1c NM_198829.1:c.-48= NM_198829.1:c.-48C>A NM_198829.1:c.-48C>T
ras-related C3 botulinum toxin substrate 1 isoform Rac1 NP_008839.2:p.Pro29= NP_008839.2:p.Pro29Thr NP_008839.2:p.Pro29Ser
ras-related C3 botulinum toxin substrate 1 isoform Rac1b NP_061485.1:p.Pro29= NP_061485.1:p.Pro29Thr NP_061485.1:p.Pro29Ser

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#.

4 SubSNP, 9 ClinVar submissions
No Submitter Submission ID Date (Build)
1 CLINVAR ss2137498185 Apr 13, 2017 (150)
2 CLINVAR ss2137498324 Apr 13, 2017 (150)
3 CLINVAR ss2137504582 Apr 18, 2017 (150)
4 CLINVAR ss2137504715 Apr 18, 2017 (150)
5 ClinVar RCV000421644.1 Oct 12, 2018 (152)
6 ClinVar RCV000421823.1 Oct 12, 2018 (152)
7 ClinVar RCV000424053.1 Oct 12, 2018 (152)
8 ClinVar RCV000426663.1 Oct 12, 2018 (152)
9 ClinVar RCV000432514.1 Oct 12, 2018 (152)
10 ClinVar RCV000437331.1 Oct 12, 2018 (152)
11 ClinVar RCV000438875.1 Oct 12, 2018 (152)
12 ClinVar RCV000443513.1 Oct 12, 2018 (152)
13 ClinVar RCV000443658.1 Oct 12, 2018 (152)

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
RCV000426663.1, RCV000437331.1, RCV000443513.1, RCV000443658.1, ss2137498324, ss2137504715 NC_000007.14:6387260:C:A NC_000007.14:6387260:C:A (self)
RCV000421644.1, RCV000421823.1, RCV000424053.1, RCV000432514.1, RCV000438875.1, ss2137498185, ss2137504582 NC_000007.14:6387260:C:T NC_000007.14:6387260:C:T (self)

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

2 citations for rs1057519874
PMID Title Author Year Journal
25056119 The RAC1 P29S hotspot mutation in melanoma confers resistance to pharmacological inhibition of RAF. Watson IR et al. 2014 Cancer research
26619011 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. Chang MT et al. 2016 Nature biotechnology

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.post596+ae089ad