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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.

rs1279946615

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr6:131281544 (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
G>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.000011 (3/264690, TOPMED)
C=0.000004 (1/245818, GnomAD_exome)
C=0.000014 (2/140270, GnomAD) (+ 1 more)
C=0.00004 (1/23038, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
AKAP7 : Missense 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 23038 G=0.99996 C=0.00004 0.999913 0.0 8.7e-05 0
European Sub 15752 G=1.00000 C=0.00000 1.0 0.0 0.0 N/A
African Sub 3492 G=1.0000 C=0.0000 1.0 0.0 0.0 N/A
African Others Sub 122 G=1.000 C=0.000 1.0 0.0 0.0 N/A
African American Sub 3370 G=1.0000 C=0.0000 1.0 0.0 0.0 N/A
Asian Sub 168 G=1.000 C=0.000 1.0 0.0 0.0 N/A
East Asian Sub 112 G=1.000 C=0.000 1.0 0.0 0.0 N/A
Other Asian Sub 56 G=1.00 C=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 G=1.000 C=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 G=1.000 C=0.000 1.0 0.0 0.0 N/A
South Asian Sub 98 G=1.00 C=0.00 1.0 0.0 0.0 N/A
Other Sub 2772 G=0.9996 C=0.0004 0.999278 0.0 0.000722 0


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 G=0.999989 C=0.000011
gnomAD - Exomes Global Study-wide 245818 G=0.999996 C=0.000004
gnomAD - Exomes European Sub 132642 G=1.000000 C=0.000000
gnomAD - Exomes Asian Sub 47840 G=1.00000 C=0.00000
gnomAD - Exomes American Sub 33486 G=1.00000 C=0.00000
gnomAD - Exomes African Sub 16066 G=0.99994 C=0.00006
gnomAD - Exomes Ashkenazi Jewish Sub 9866 G=1.0000 C=0.0000
gnomAD - Exomes Other Sub 5918 G=1.0000 C=0.0000
gnomAD - Genomes Global Study-wide 140270 G=0.999986 C=0.000014
gnomAD - Genomes European Sub 75962 G=1.00000 C=0.00000
gnomAD - Genomes African Sub 42044 G=0.99995 C=0.00005
gnomAD - Genomes American Sub 13658 G=1.00000 C=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3322 G=1.0000 C=0.0000
gnomAD - Genomes East Asian Sub 3134 G=1.0000 C=0.0000
gnomAD - Genomes Other Sub 2150 G=1.0000 C=0.0000
Allele Frequency Aggregator Total Global 23038 G=0.99996 C=0.00004
Allele Frequency Aggregator European Sub 15752 G=1.00000 C=0.00000
Allele Frequency Aggregator African Sub 3492 G=1.0000 C=0.0000
Allele Frequency Aggregator Other Sub 2772 G=0.9996 C=0.0004
Allele Frequency Aggregator Latin American 2 Sub 610 G=1.000 C=0.000
Allele Frequency Aggregator Asian Sub 168 G=1.000 C=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 G=1.000 C=0.000
Allele Frequency Aggregator South Asian Sub 98 G=1.00 C=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 6 NC_000006.12:g.131281544G>C
GRCh37.p13 chr 6 NC_000006.11:g.131602684G>C
AKAP7 RefSeqGene NG_029123.1:g.150859G>C
Gene: AKAP7, A-kinase anchoring protein 7 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
AKAP7 transcript variant 4 NM_001376570.1:c.851-855G…

NM_001376570.1:c.851-855G>C

 		N/A Intron Variant
AKAP7 transcript variant 9 NM_001387861.1:c.851-1641…

NM_001387861.1:c.851-1641G>C

 		N/A Intron Variant
AKAP7 transcript variant 11 NM_001387863.1:c.785-855G…

NM_001387863.1:c.785-855G>C

 		N/A Intron Variant
AKAP7 transcript variant 12 NM_001387864.1:c.50-855G>C N/A Intron Variant
AKAP7 transcript variant 10 NM_001387862.1:c. N/A Genic Downstream Transcript Variant
AKAP7 transcript variant gamma NM_016377.4:c.865G>C G [GGG] > R [CGG] Coding Sequence Variant
A-kinase anchoring protein 7 isoform gamma NP_057461.2:p.Gly289Arg G (Gly) > R (Arg) Missense Variant
AKAP7 transcript variant beta NM_138633.3:c.133G>C G [GGG] > R [CGG] Coding Sequence Variant
A-kinase anchoring protein 7 isoform beta NP_619539.1:p.Gly45Arg G (Gly) > R (Arg) Missense Variant
AKAP7 transcript variant alpha NM_004842.4:c.64G>C G [GGG] > R [CGG] Coding Sequence Variant
A-kinase anchoring protein 7 isoform alpha NP_004833.1:p.Gly22Arg G (Gly) > R (Arg) Missense Variant
AKAP7 transcript variant 8 NM_001387860.1:c.733G>C G [GGG] > R [CGG] Coding Sequence Variant
A-kinase anchoring protein 7 isoform 5 NP_001374789.1:p.Gly245Arg G (Gly) > R (Arg) Missense Variant
AKAP7 transcript variant 14 NR_170717.1:n.1655G>C N/A Non Coding Transcript Variant
AKAP7 transcript variant 5 NR_164832.1:n. N/A Intron Variant
AKAP7 transcript variant 6 NR_164833.1:n. N/A Intron Variant
AKAP7 transcript variant 7 NR_164834.1:n. N/A Intron Variant
AKAP7 transcript variant 13 NR_170716.1:n. N/A Intron Variant
AKAP7 transcript variant X10 XM_005267229.5:c.785-855G…

XM_005267229.5:c.785-855G>C

 		N/A Intron Variant
AKAP7 transcript variant X8 XM_017011509.2:c.863-855G…

XM_017011509.2:c.863-855G>C

 		N/A Intron Variant
AKAP7 transcript variant X13 XM_017011510.2:c.494-855G…

XM_017011510.2:c.494-855G>C

 		N/A Intron Variant
AKAP7 transcript variant X14 XM_017011511.3:c.494-855G…

XM_017011511.3:c.494-855G>C

 		N/A Intron Variant
AKAP7 transcript variant X7 XM_047419571.1:c.881-855G…

XM_047419571.1:c.881-855G>C

 		N/A Intron Variant
AKAP7 transcript variant X1 XM_017011506.2:c. N/A Genic Downstream Transcript Variant
AKAP7 transcript variant X5 XM_017011507.2:c. N/A Genic Downstream Transcript Variant
AKAP7 transcript variant X3 XM_024446589.2:c. N/A Genic Downstream Transcript Variant
AKAP7 transcript variant X2 XM_047419568.1:c. N/A Genic Downstream Transcript Variant
AKAP7 transcript variant X4 XM_047419569.1:c. N/A Genic Downstream Transcript Variant
AKAP7 transcript variant X6 XM_047419570.1:c. N/A Genic Downstream Transcript Variant
AKAP7 transcript variant X12 XM_047419572.1:c. N/A Genic Downstream Transcript Variant
AKAP7 transcript variant X9 XR_001743754.3:n. N/A Genic Downstream Transcript Variant
AKAP7 transcript variant X11 XR_001743755.3:n. N/A Genic Downstream 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 G= C
GRCh38.p14 chr 6 NC_000006.12:g.131281544= NC_000006.12:g.131281544G>C
GRCh37.p13 chr 6 NC_000006.11:g.131602684= NC_000006.11:g.131602684G>C
AKAP7 RefSeqGene NG_029123.1:g.150859= NG_029123.1:g.150859G>C
AKAP7 transcript variant gamma NM_016377.4:c.865= NM_016377.4:c.865G>C
AKAP7 transcript variant gamma NM_016377.3:c.865= NM_016377.3:c.865G>C
AKAP7 transcript variant alpha NM_004842.4:c.64= NM_004842.4:c.64G>C
AKAP7 transcript variant alpha NM_004842.3:c.64= NM_004842.3:c.64G>C
AKAP7 transcript variant beta NM_138633.3:c.133= NM_138633.3:c.133G>C
AKAP7 transcript variant beta NM_138633.2:c.133= NM_138633.2:c.133G>C
AKAP7 transcript variant 14 NR_170717.1:n.1655= NR_170717.1:n.1655G>C
AKAP7 transcript variant 8 NM_001387860.1:c.733= NM_001387860.1:c.733G>C
A-kinase anchoring protein 7 isoform gamma NP_057461.2:p.Gly289= NP_057461.2:p.Gly289Arg
A-kinase anchoring protein 7 isoform alpha NP_004833.1:p.Gly22= NP_004833.1:p.Gly22Arg
A-kinase anchoring protein 7 isoform beta NP_619539.1:p.Gly45= NP_619539.1:p.Gly45Arg
A-kinase anchoring protein 7 isoform 5 NP_001374789.1:p.Gly245= NP_001374789.1:p.Gly245Arg
AKAP7 transcript variant 4 NM_001376570.1:c.851-855= NM_001376570.1:c.851-855G>C
AKAP7 transcript variant 9 NM_001387861.1:c.851-1641= NM_001387861.1:c.851-1641G>C
AKAP7 transcript variant 11 NM_001387863.1:c.785-855= NM_001387863.1:c.785-855G>C
AKAP7 transcript variant 12 NM_001387864.1:c.50-855= NM_001387864.1:c.50-855G>C
AKAP7 transcript variant X1 XM_005267228.1:c.851-855= XM_005267228.1:c.851-855G>C
AKAP7 transcript variant X2 XM_005267229.1:c.785-855= XM_005267229.1:c.785-855G>C
AKAP7 transcript variant X10 XM_005267229.5:c.785-855= XM_005267229.5:c.785-855G>C
AKAP7 transcript variant X8 XM_017011509.2:c.863-855= XM_017011509.2:c.863-855G>C
AKAP7 transcript variant X13 XM_017011510.2:c.494-855= XM_017011510.2:c.494-855G>C
AKAP7 transcript variant X14 XM_017011511.3:c.494-855= XM_017011511.3:c.494-855G>C
AKAP7 transcript variant X7 XM_047419571.1:c.881-855= XM_047419571.1:c.881-855G>C
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#.

3 SubSNP, 4 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2736062628 Nov 08, 2017 (151)
2 GNOMAD ss4151647952 Apr 26, 2021 (155)
3 TOPMED ss4722335201 Apr 26, 2021 (155)
4 gnomAD - Genomes NC_000006.12 - 131281544 Apr 26, 2021 (155)
5 gnomAD - Exomes NC_000006.11 - 131602684 Jul 13, 2019 (153)
6 TopMed NC_000006.12 - 131281544 Apr 26, 2021 (155)
7 ALFA NC_000006.12 - 131281544 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
5213519, ss2736062628 NC_000006.11:131602683:G:C NC_000006.12:131281543:G:C (self)
241503656, 559712759, 12632523715, ss4151647952, ss4722335201 NC_000006.12:131281543:G:C NC_000006.12:131281543:G:C (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 rs1279946615

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