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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.

rs770984582

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr18:44950626 (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=0.000040 (10/250572, GnomAD_exome)
G=0.000007 (1/140204, GnomAD)
G=0.000033 (4/120532, ExAC)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
SETBP1 : 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 250572 A=0.999960 G=0.000040
gnomAD - Exomes European Sub 134702 A=0.999926 G=0.000074
gnomAD - Exomes Asian Sub 48984 A=1.00000 G=0.00000
gnomAD - Exomes American Sub 34572 A=1.00000 G=0.00000
gnomAD - Exomes African Sub 16158 A=1.00000 G=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10054 A=1.00000 G=0.00000
gnomAD - Exomes Other Sub 6102 A=1.0000 G=0.0000
gnomAD - Genomes Global Study-wide 140204 A=0.999993 G=0.000007
gnomAD - Genomes European Sub 75930 A=0.99999 G=0.00001
gnomAD - Genomes African Sub 42024 A=1.00000 G=0.00000
gnomAD - Genomes American Sub 13652 A=1.00000 G=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3318 A=1.0000 G=0.0000
gnomAD - Genomes East Asian Sub 3128 A=1.0000 G=0.0000
gnomAD - Genomes Other Sub 2152 A=1.0000 G=0.0000
ExAC Global Study-wide 120532 A=0.999967 G=0.000033
ExAC Europe Sub 72876 A=0.99995 G=0.00005
ExAC Asian Sub 25070 A=1.00000 G=0.00000
ExAC American Sub 11524 A=1.00000 G=0.00000
ExAC African Sub 10164 A=1.00000 G=0.00000
ExAC Other Sub 898 A=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 18 NC_000018.10:g.44950626A>G
GRCh37.p13 chr 18 NC_000018.9:g.42530591A>G
SETBP1 RefSeqGene (LRG_1150) NG_027527.2:g.275454A>G
Gene: SETBP1, SET binding protein 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
SETBP1 transcript variant 2 NM_001130110.2:c. N/A Genic Downstream Transcript Variant
SETBP1 transcript variant 1 NM_015559.3:c.1286A>G E [GAA] > G [GGA] Coding Sequence Variant
SET-binding protein isoform a NP_056374.2:p.Glu429Gly E (Glu) > G (Gly) Missense Variant
SETBP1 transcript variant 3 NM_001379141.1:c.1286A>G E [GAA] > G [GGA] Coding Sequence Variant
SET-binding protein isoform a NP_001366070.1:p.Glu429Gly E (Glu) > G (Gly) Missense Variant
SETBP1 transcript variant 4 NM_001379142.1:c.1286A>G E [GAA] > G [GGA] Coding Sequence Variant
SET-binding protein isoform a NP_001366071.1:p.Glu429Gly E (Glu) > G (Gly) Missense Variant
SETBP1 transcript variant X1 XM_024451149.2:c.1364A>G E [GAA] > G [GGA] Coding Sequence Variant
SET-binding protein isoform X1 XP_024306917.1:p.Glu455Gly E (Glu) > G (Gly) Missense Variant
SETBP1 transcript variant X2 XM_047437475.1:c.1364A>G E [GAA] > G [GGA] Coding Sequence Variant
SET-binding protein isoform X1 XP_047293431.1:p.Glu455Gly E (Glu) > G (Gly) Missense Variant
SETBP1 transcript variant X3 XM_024451150.2:c.1364A>G E [GAA] > G [GGA] Coding Sequence Variant
SET-binding protein isoform X1 XP_024306918.1:p.Glu455Gly E (Glu) > G (Gly) Missense Variant
SETBP1 transcript variant X4 XM_024451152.2:c.1364A>G E [GAA] > G [GGA] Coding Sequence Variant
SET-binding protein isoform X1 XP_024306920.1:p.Glu455Gly E (Glu) > G (Gly) Missense Variant
SETBP1 transcript variant X5 XM_024451151.2:c.1364A>G E [GAA] > G [GGA] Coding Sequence Variant
SET-binding protein isoform X1 XP_024306919.1:p.Glu455Gly E (Glu) > G (Gly) Missense Variant
SETBP1 transcript variant X6 XM_047437476.1:c.1286A>G E [GAA] > G [GGA] Coding Sequence Variant
SET-binding protein isoform X2 XP_047293432.1:p.Glu429Gly E (Glu) > G (Gly) Missense Variant
SETBP1 transcript variant X7 XM_024451154.2:c.1286A>G E [GAA] > G [GGA] Coding Sequence Variant
SET-binding protein isoform X2 XP_024306922.1:p.Glu429Gly E (Glu) > G (Gly) Missense Variant
SETBP1 transcript variant X8 XM_024451156.2:c.1364A>G E [GAA] > G [GGA] Coding Sequence Variant
SET-binding protein isoform X3 XP_024306924.1:p.Glu455Gly E (Glu) > G (Gly) Missense Variant
SETBP1 transcript variant X9 XM_047437477.1:c.1286A>G E [GAA] > G [GGA] Coding Sequence Variant
SET-binding protein isoform X4 XP_047293433.1:p.Glu429Gly E (Glu) > G (Gly) Missense Variant
SETBP1 transcript variant X10 XM_047437478.1:c.1286A>G E [GAA] > G [GGA] Coding Sequence Variant
SET-binding protein isoform X4 XP_047293434.1:p.Glu429Gly E (Glu) > G (Gly) Missense Variant
SETBP1 transcript variant X10 XM_047437479.1:c.809A>G E [GAA] > G [GGA] Coding Sequence Variant
SET-binding protein isoform X5 XP_047293435.1:p.Glu270Gly E (Glu) > G (Gly) Missense Variant
SETBP1 transcript variant X11 XM_047437480.1:c.809A>G E [GAA] > G [GGA] Coding Sequence Variant
SET-binding protein isoform X5 XP_047293436.1:p.Glu270Gly E (Glu) > G (Gly) Missense Variant
SETBP1 transcript variant X12 XM_024451157.2:c.809A>G E [GAA] > G [GGA] Coding Sequence Variant
SET-binding protein isoform X5 XP_024306925.1:p.Glu270Gly E (Glu) > G (Gly) Missense Variant
SETBP1 transcript variant X13 XM_024451158.2:c.1364A>G E [GAA] > G [GGA] Coding Sequence Variant
SET-binding protein isoform X6 XP_024306926.1:p.Glu455Gly E (Glu) > G (Gly) Missense Variant
SETBP1 transcript variant X14 XM_047437481.1:c.629A>G E [GAA] > G [GGA] Coding Sequence Variant
SET-binding protein isoform X7 XP_047293437.1:p.Glu210Gly E (Glu) > G (Gly) 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 A= G
GRCh38.p14 chr 18 NC_000018.10:g.44950626= NC_000018.10:g.44950626A>G
GRCh37.p13 chr 18 NC_000018.9:g.42530591= NC_000018.9:g.42530591A>G
SETBP1 RefSeqGene (LRG_1150) NG_027527.2:g.275454= NG_027527.2:g.275454A>G
SETBP1 transcript variant 1 NM_015559.3:c.1286= NM_015559.3:c.1286A>G
SETBP1 transcript variant 1 NM_015559.2:c.1286= NM_015559.2:c.1286A>G
SETBP1 transcript variant 3 NM_001379141.1:c.1286= NM_001379141.1:c.1286A>G
SETBP1 transcript variant 4 NM_001379142.1:c.1286= NM_001379142.1:c.1286A>G
SETBP1 transcript variant 5 NM_001410862.1:c.1286= NM_001410862.1:c.1286A>G
SETBP1 transcript variant X12 XM_024451157.2:c.809= XM_024451157.2:c.809A>G
SETBP1 transcript variant X9 XM_024451157.1:c.809= XM_024451157.1:c.809A>G
SETBP1 transcript variant X13 XM_024451158.2:c.1364= XM_024451158.2:c.1364A>G
SETBP1 transcript variant X10 XM_024451158.1:c.1364= XM_024451158.1:c.1364A>G
SETBP1 transcript variant X1 XM_024451149.2:c.1364= XM_024451149.2:c.1364A>G
SETBP1 transcript variant X1 XM_024451149.1:c.1364= XM_024451149.1:c.1364A>G
SETBP1 transcript variant X7 XM_024451154.2:c.1286= XM_024451154.2:c.1286A>G
SETBP1 transcript variant X6 XM_024451154.1:c.1286= XM_024451154.1:c.1286A>G
SETBP1 transcript variant X4 XM_024451152.2:c.1364= XM_024451152.2:c.1364A>G
SETBP1 transcript variant X4 XM_024451152.1:c.1364= XM_024451152.1:c.1364A>G
SETBP1 transcript variant X8 XM_024451156.2:c.1364= XM_024451156.2:c.1364A>G
SETBP1 transcript variant X8 XM_024451156.1:c.1364= XM_024451156.1:c.1364A>G
SETBP1 transcript variant X5 XM_024451151.2:c.1364= XM_024451151.2:c.1364A>G
SETBP1 transcript variant X3 XM_024451151.1:c.1364= XM_024451151.1:c.1364A>G
SETBP1 transcript variant X3 XM_024451150.2:c.1364= XM_024451150.2:c.1364A>G
SETBP1 transcript variant X2 XM_024451150.1:c.1364= XM_024451150.1:c.1364A>G
SETBP1 transcript variant X10 XM_047437479.1:c.809= XM_047437479.1:c.809A>G
SETBP1 transcript variant X11 XM_047437480.1:c.809= XM_047437480.1:c.809A>G
SETBP1 transcript variant X14 XM_047437481.1:c.629= XM_047437481.1:c.629A>G
SETBP1 transcript variant X2 XM_047437475.1:c.1364= XM_047437475.1:c.1364A>G
SETBP1 transcript variant X9 XM_047437477.1:c.1286= XM_047437477.1:c.1286A>G
SETBP1 transcript variant X6 XM_047437476.1:c.1286= XM_047437476.1:c.1286A>G
SETBP1 transcript variant X10 XM_047437478.1:c.1286= XM_047437478.1:c.1286A>G
SET-binding protein isoform a NP_056374.2:p.Glu429= NP_056374.2:p.Glu429Gly
SET-binding protein isoform a NP_001366070.1:p.Glu429= NP_001366070.1:p.Glu429Gly
SET-binding protein isoform a NP_001366071.1:p.Glu429= NP_001366071.1:p.Glu429Gly
SET-binding protein isoform X5 XP_024306925.1:p.Glu270= XP_024306925.1:p.Glu270Gly
SET-binding protein isoform X6 XP_024306926.1:p.Glu455= XP_024306926.1:p.Glu455Gly
SET-binding protein isoform X1 XP_024306917.1:p.Glu455= XP_024306917.1:p.Glu455Gly
SET-binding protein isoform X2 XP_024306922.1:p.Glu429= XP_024306922.1:p.Glu429Gly
SET-binding protein isoform X1 XP_024306920.1:p.Glu455= XP_024306920.1:p.Glu455Gly
SET-binding protein isoform X3 XP_024306924.1:p.Glu455= XP_024306924.1:p.Glu455Gly
SET-binding protein isoform X1 XP_024306919.1:p.Glu455= XP_024306919.1:p.Glu455Gly
SET-binding protein isoform X1 XP_024306918.1:p.Glu455= XP_024306918.1:p.Glu455Gly
SET-binding protein isoform X5 XP_047293435.1:p.Glu270= XP_047293435.1:p.Glu270Gly
SET-binding protein isoform X5 XP_047293436.1:p.Glu270= XP_047293436.1:p.Glu270Gly
SET-binding protein isoform X7 XP_047293437.1:p.Glu210= XP_047293437.1:p.Glu210Gly
SET-binding protein isoform X1 XP_047293431.1:p.Glu455= XP_047293431.1:p.Glu455Gly
SET-binding protein isoform X4 XP_047293433.1:p.Glu429= XP_047293433.1:p.Glu429Gly
SET-binding protein isoform X2 XP_047293432.1:p.Glu429= XP_047293432.1:p.Glu429Gly
SET-binding protein isoform X4 XP_047293434.1:p.Glu429= XP_047293434.1:p.Glu429Gly
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#.

4 SubSNP, 3 Frequency submissions
No Submitter Submission ID Date (Build)
1 EVA_EXAC ss1693135071 Apr 01, 2015 (144)
2 GNOMAD ss2743272542 Nov 08, 2017 (151)
3 GNOMAD ss2749950542 Nov 08, 2017 (151)
4 GNOMAD ss2956460744 Nov 08, 2017 (151)
5 ExAC NC_000018.9 - 42530591 Oct 12, 2018 (152)
6 gnomAD - Genomes NC_000018.10 - 44950626 Apr 27, 2021 (155)
7 gnomAD - Exomes NC_000018.9 - 42530591 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
3605806, 12584529, ss1693135071, ss2743272542, ss2749950542, ss2956460744 NC_000018.9:42530590:A:G NC_000018.10:44950625:A:G (self)
523964120 NC_000018.10:44950625:A:G NC_000018.10:44950625: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.

No publications for rs770984582

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