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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.

rs1484151994

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:167899466 (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>A
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.000004 (1/264690, TOPMED)
A=0.000007 (1/140280, GnomAD)
A=0.00000 (0/14050, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ADCY10 : Missense Variant
DCAF6 : 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 14050 C=1.00000 A=0.00000 1.0 0.0 0.0 N/A
European Sub 9690 C=1.0000 A=0.0000 1.0 0.0 0.0 N/A
African Sub 2898 C=1.0000 A=0.0000 1.0 0.0 0.0 N/A
African Others Sub 114 C=1.000 A=0.000 1.0 0.0 0.0 N/A
African American Sub 2784 C=1.0000 A=0.0000 1.0 0.0 0.0 N/A
Asian Sub 112 C=1.000 A=0.000 1.0 0.0 0.0 N/A
East Asian Sub 86 C=1.00 A=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 26 C=1.00 A=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 C=1.000 A=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 C=1.000 A=0.000 1.0 0.0 0.0 N/A
South Asian Sub 98 C=1.00 A=0.00 1.0 0.0 0.0 N/A
Other Sub 496 C=1.000 A=0.000 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 C=0.999996 A=0.000004
gnomAD - Genomes Global Study-wide 140280 C=0.999993 A=0.000007
gnomAD - Genomes European Sub 75964 C=0.99999 A=0.00001
gnomAD - Genomes African Sub 42058 C=1.00000 A=0.00000
gnomAD - Genomes American Sub 13654 C=1.00000 A=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3320 C=1.0000 A=0.0000
gnomAD - Genomes East Asian Sub 3134 C=1.0000 A=0.0000
gnomAD - Genomes Other Sub 2150 C=1.0000 A=0.0000
Allele Frequency Aggregator Total Global 14050 C=1.00000 A=0.00000
Allele Frequency Aggregator European Sub 9690 C=1.0000 A=0.0000
Allele Frequency Aggregator African Sub 2898 C=1.0000 A=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 C=1.000 A=0.000
Allele Frequency Aggregator Other Sub 496 C=1.000 A=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 C=1.000 A=0.000
Allele Frequency Aggregator Asian Sub 112 C=1.000 A=0.000
Allele Frequency Aggregator South Asian Sub 98 C=1.00 A=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 1 NC_000001.11:g.167899466C>A
GRCh37.p13 chr 1 NC_000001.10:g.167868704C>A
ADCY10 RefSeqGene NG_016139.2:g.19668G>T
ADCY10 RefSeqGene NG_016139.1:g.19750G>T
Gene: DCAF6, DDB1 and CUL4 associated factor 6 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
DCAF6 transcript variant 2 NM_001017977.3:c. N/A Genic Upstream Transcript Variant
DCAF6 transcript variant 3 NM_001198956.2:c. N/A Genic Upstream Transcript Variant
DCAF6 transcript variant 4 NM_001198957.2:c. N/A Genic Upstream Transcript Variant
DCAF6 transcript variant 5 NM_001349773.2:c. N/A Genic Upstream Transcript Variant
DCAF6 transcript variant 6 NM_001349774.2:c. N/A Genic Upstream Transcript Variant
DCAF6 transcript variant 7 NM_001349775.2:c. N/A Genic Upstream Transcript Variant
DCAF6 transcript variant 8 NM_001349776.2:c. N/A Genic Upstream Transcript Variant
DCAF6 transcript variant 9 NM_001349777.2:c. N/A Genic Upstream Transcript Variant
DCAF6 transcript variant 10 NM_001349778.2:c. N/A Genic Upstream Transcript Variant
DCAF6 transcript variant 11 NM_001349779.2:c. N/A Genic Upstream Transcript Variant
DCAF6 transcript variant 12 NM_001349780.2:c. N/A Genic Upstream Transcript Variant
DCAF6 transcript variant 16 NM_001393650.1:c. N/A Genic Upstream Transcript Variant
DCAF6 transcript variant 17 NM_001393651.1:c. N/A Genic Upstream Transcript Variant
DCAF6 transcript variant 1 NM_018442.4:c. N/A Genic Upstream Transcript Variant
DCAF6 transcript variant 13 NR_146228.2:n. N/A Genic Upstream Transcript Variant
DCAF6 transcript variant 14 NR_146229.2:n. N/A Genic Upstream Transcript Variant
DCAF6 transcript variant 15 NR_146230.2:n. N/A Genic Upstream Transcript Variant
DCAF6 transcript variant X4 XM_047425194.1:c.-345+356…

XM_047425194.1:c.-345+35628C>A

 		N/A Intron Variant
DCAF6 transcript variant X3 XM_017001779.3:c. N/A Genic Upstream Transcript Variant
DCAF6 transcript variant X1 XM_024448371.2:c. N/A Genic Upstream Transcript Variant
DCAF6 transcript variant X6 XM_024448373.2:c. N/A Genic Upstream Transcript Variant
DCAF6 transcript variant X7 XM_024448374.2:c. N/A Genic Upstream Transcript Variant
DCAF6 transcript variant X8 XM_024448375.2:c. N/A Genic Upstream Transcript Variant
DCAF6 transcript variant X2 XM_047425193.1:c. N/A Genic Upstream Transcript Variant
DCAF6 transcript variant X5 XM_047425198.1:c. N/A Genic Upstream Transcript Variant
Gene: ADCY10, adenylate cyclase 10 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ADCY10 transcript variant 1 NM_018417.6:c.599G>T S [AGC] > I [ATC] Coding Sequence Variant
adenylate cyclase type 10 isoform 1 NP_060887.2:p.Ser200Ile S (Ser) > I (Ile) Missense Variant
ADCY10 transcript variant 2 NM_001167749.3:c.140G>T S [AGC] > I [ATC] Coding Sequence Variant
adenylate cyclase type 10 isoform 2 NP_001161221.1:p.Ser47Ile S (Ser) > I (Ile) Missense Variant
ADCY10 transcript variant 3 NM_001297772.2:c.323G>T S [AGC] > I [ATC] Coding Sequence Variant
adenylate cyclase type 10 isoform 3 NP_001284701.1:p.Ser108Ile S (Ser) > I (Ile) Missense Variant
ADCY10 transcript variant X1 XM_011509760.4:c.599G>T S [AGC] > I [ATC] Coding Sequence Variant
adenylate cyclase type 10 isoform X1 XP_011508062.1:p.Ser200Ile S (Ser) > I (Ile) Missense Variant
ADCY10 transcript variant X2 XM_011509762.4:c.455G>T S [AGC] > I [ATC] Coding Sequence Variant
adenylate cyclase type 10 isoform X2 XP_011508064.1:p.Ser152Ile S (Ser) > I (Ile) Missense Variant
ADCY10 transcript variant X3 XM_011509763.4:c.599G>T S [AGC] > I [ATC] Coding Sequence Variant
adenylate cyclase type 10 isoform X3 XP_011508065.1:p.Ser200Ile S (Ser) > I (Ile) Missense Variant
ADCY10 transcript variant X4 XM_006711449.5:c.599G>T S [AGC] > I [ATC] Coding Sequence Variant
adenylate cyclase type 10 isoform X4 XP_006711512.1:p.Ser200Ile S (Ser) > I (Ile) Missense Variant
ADCY10 transcript variant X5 XM_047425153.1:c.599G>T S [AGC] > I [ATC] Coding Sequence Variant
adenylate cyclase type 10 isoform X5 XP_047281109.1:p.Ser200Ile S (Ser) > I (Ile) Missense Variant
ADCY10 transcript variant X6 XM_017001778.3:c.599G>T S [AGC] > I [ATC] Coding Sequence Variant
adenylate cyclase type 10 isoform X6 XP_016857267.1:p.Ser200Ile S (Ser) > I (Ile) Missense Variant
ADCY10 transcript variant X7 XM_005245330.6:c.599G>T S [AGC] > I [ATC] Coding Sequence Variant
adenylate cyclase type 10 isoform X7 XP_005245387.1:p.Ser200Ile S (Ser) > I (Ile) Missense Variant
ADCY10 transcript variant X8 XM_011509766.4:c.599G>T S [AGC] > I [ATC] Coding Sequence Variant
adenylate cyclase type 10 isoform X8 XP_011508068.1:p.Ser200Ile S (Ser) > I (Ile) 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= A
GRCh38.p14 chr 1 NC_000001.11:g.167899466= NC_000001.11:g.167899466C>A
GRCh37.p13 chr 1 NC_000001.10:g.167868704= NC_000001.10:g.167868704C>A
ADCY10 RefSeqGene NG_016139.2:g.19668= NG_016139.2:g.19668G>T
ADCY10 RefSeqGene NG_016139.1:g.19750= NG_016139.1:g.19750G>T
ADCY10 transcript variant 1 NM_018417.6:c.599= NM_018417.6:c.599G>T
ADCY10 transcript variant 1 NM_018417.5:c.599= NM_018417.5:c.599G>T
ADCY10 transcript variant 1 NM_018417.4:c.599= NM_018417.4:c.599G>T
ADCY10 transcript variant 2 NM_001167749.3:c.140= NM_001167749.3:c.140G>T
ADCY10 transcript variant 2 NM_001167749.2:c.140= NM_001167749.2:c.140G>T
ADCY10 transcript variant 2 NM_001167749.1:c.140= NM_001167749.1:c.140G>T
ADCY10 transcript variant 3 NM_001297772.2:c.323= NM_001297772.2:c.323G>T
ADCY10 transcript variant 3 NM_001297772.1:c.323= NM_001297772.1:c.323G>T
ADCY10 transcript variant X7 XM_005245330.6:c.599= XM_005245330.6:c.599G>T
ADCY10 transcript variant X7 XM_005245330.5:c.599= XM_005245330.5:c.599G>T
ADCY10 transcript variant X7 XM_005245330.4:c.599= XM_005245330.4:c.599G>T
ADCY10 transcript variant X9 XM_005245330.3:c.599= XM_005245330.3:c.599G>T
ADCY10 transcript variant X2 XM_005245330.2:c.599= XM_005245330.2:c.599G>T
ADCY10 transcript variant X2 XM_005245330.1:c.599= XM_005245330.1:c.599G>T
ADCY10 transcript variant X4 XM_006711449.5:c.599= XM_006711449.5:c.599G>T
ADCY10 transcript variant X4 XM_006711449.4:c.599= XM_006711449.4:c.599G>T
ADCY10 transcript variant X4 XM_006711449.3:c.599= XM_006711449.3:c.599G>T
ADCY10 transcript variant X5 XM_006711449.2:c.599= XM_006711449.2:c.599G>T
ADCY10 transcript variant X3 XM_006711449.1:c.599= XM_006711449.1:c.599G>T
ADCY10 transcript variant X1 XM_011509760.4:c.599= XM_011509760.4:c.599G>T
ADCY10 transcript variant X1 XM_011509760.3:c.599= XM_011509760.3:c.599G>T
ADCY10 transcript variant X1 XM_011509760.2:c.599= XM_011509760.2:c.599G>T
ADCY10 transcript variant X1 XM_011509760.1:c.599= XM_011509760.1:c.599G>T
ADCY10 transcript variant X2 XM_011509762.4:c.455= XM_011509762.4:c.455G>T
ADCY10 transcript variant X2 XM_011509762.3:c.455= XM_011509762.3:c.455G>T
ADCY10 transcript variant X2 XM_011509762.2:c.455= XM_011509762.2:c.455G>T
ADCY10 transcript variant X3 XM_011509762.1:c.455= XM_011509762.1:c.455G>T
ADCY10 transcript variant X3 XM_011509763.4:c.599= XM_011509763.4:c.599G>T
ADCY10 transcript variant X3 XM_011509763.3:c.599= XM_011509763.3:c.599G>T
ADCY10 transcript variant X3 XM_011509763.2:c.599= XM_011509763.2:c.599G>T
ADCY10 transcript variant X4 XM_011509763.1:c.599= XM_011509763.1:c.599G>T
ADCY10 transcript variant X8 XM_011509766.4:c.599= XM_011509766.4:c.599G>T
ADCY10 transcript variant X8 XM_011509766.3:c.599= XM_011509766.3:c.599G>T
ADCY10 transcript variant X8 XM_011509766.2:c.599= XM_011509766.2:c.599G>T
ADCY10 transcript variant X10 XM_011509766.1:c.599= XM_011509766.1:c.599G>T
ADCY10 transcript variant X6 XM_017001778.3:c.599= XM_017001778.3:c.599G>T
ADCY10 transcript variant X6 XM_017001778.2:c.599= XM_017001778.2:c.599G>T
ADCY10 transcript variant X6 XM_017001778.1:c.599= XM_017001778.1:c.599G>T
LOC55899 transcript NM_018673.1:c.599= NM_018673.1:c.599G>T
ADCY10 transcript variant X5 XM_047425153.1:c.599= XM_047425153.1:c.599G>T
adenylate cyclase type 10 isoform 1 NP_060887.2:p.Ser200= NP_060887.2:p.Ser200Ile
adenylate cyclase type 10 isoform 2 NP_001161221.1:p.Ser47= NP_001161221.1:p.Ser47Ile
adenylate cyclase type 10 isoform 3 NP_001284701.1:p.Ser108= NP_001284701.1:p.Ser108Ile
adenylate cyclase type 10 isoform X7 XP_005245387.1:p.Ser200= XP_005245387.1:p.Ser200Ile
adenylate cyclase type 10 isoform X4 XP_006711512.1:p.Ser200= XP_006711512.1:p.Ser200Ile
adenylate cyclase type 10 isoform X1 XP_011508062.1:p.Ser200= XP_011508062.1:p.Ser200Ile
adenylate cyclase type 10 isoform X2 XP_011508064.1:p.Ser152= XP_011508064.1:p.Ser152Ile
adenylate cyclase type 10 isoform X3 XP_011508065.1:p.Ser200= XP_011508065.1:p.Ser200Ile
adenylate cyclase type 10 isoform X8 XP_011508068.1:p.Ser200= XP_011508068.1:p.Ser200Ile
adenylate cyclase type 10 isoform X6 XP_016857267.1:p.Ser200= XP_016857267.1:p.Ser200Ile
adenylate cyclase type 10 isoform X5 XP_047281109.1:p.Ser200= XP_047281109.1:p.Ser200Ile
DCAF6 transcript variant X4 XM_047425194.1:c.-345+35628= XM_047425194.1:c.-345+35628C>A
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, 3 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss4005343401 Apr 25, 2021 (155)
2 TOPMED ss4471580185 Apr 25, 2021 (155)
3 gnomAD - Genomes NC_000001.11 - 167899466 Apr 25, 2021 (155)
4 TopMed NC_000001.11 - 167899466 Apr 25, 2021 (155)
5 ALFA NC_000001.11 - 167899466 Apr 25, 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
29743394, 35186520, 1806068177, ss4005343401, ss4471580185 NC_000001.11:167899465:C:A NC_000001.11:167899465:C:A (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 rs1484151994

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