Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

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.

rs933044487

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr11:8911618-8911621 (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
delC / dupC
Variation Type
Indel Insertion and Deletion
Frequency
delC=0.000009 (2/226362, GnomAD_exome)
delC=0.000007 (1/140200, GnomAD)
delC=0.00000 (0/11862, ALFA) (+ 1 more)
dupC=0.00000 (0/11862, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
AKIP1 : Frameshift Variant
DENND2B : 2KB Upstream 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 11862 CCCC=1.00000 CCC=0.00000, CCCCC=0.00000 1.0 0.0 0.0 N/A
European Sub 7618 CCCC=1.0000 CCC=0.0000, CCCCC=0.0000 1.0 0.0 0.0 N/A
African Sub 2816 CCCC=1.0000 CCC=0.0000, CCCCC=0.0000 1.0 0.0 0.0 N/A
African Others Sub 108 CCCC=1.000 CCC=0.000, CCCCC=0.000 1.0 0.0 0.0 N/A
African American Sub 2708 CCCC=1.0000 CCC=0.0000, CCCCC=0.0000 1.0 0.0 0.0 N/A
Asian Sub 108 CCCC=1.000 CCC=0.000, CCCCC=0.000 1.0 0.0 0.0 N/A
East Asian Sub 84 CCCC=1.00 CCC=0.00, CCCCC=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 24 CCCC=1.00 CCC=0.00, CCCCC=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 CCCC=1.000 CCC=0.000, CCCCC=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 CCCC=1.000 CCC=0.000, CCCCC=0.000 1.0 0.0 0.0 N/A
South Asian Sub 94 CCCC=1.00 CCC=0.00, CCCCC=0.00 1.0 0.0 0.0 N/A
Other Sub 470 CCCC=1.000 CCC=0.000, CCCCC=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
gnomAD - Exomes Global Study-wide 226362 (C)4=0.999991 delC=0.000009
gnomAD - Exomes European Sub 121400 (C)4=1.000000 delC=0.000000
gnomAD - Exomes Asian Sub 45374 (C)4=0.99996 delC=0.00004
gnomAD - Exomes American Sub 31278 (C)4=1.00000 delC=0.00000
gnomAD - Exomes African Sub 14308 (C)4=1.00000 delC=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 8664 (C)4=1.0000 delC=0.0000
gnomAD - Exomes Other Sub 5338 (C)4=1.0000 delC=0.0000
gnomAD - Genomes Global Study-wide 140200 (C)4=0.999993 delC=0.000007
gnomAD - Genomes European Sub 75916 (C)4=1.00000 delC=0.00000
gnomAD - Genomes African Sub 42016 (C)4=1.00000 delC=0.00000
gnomAD - Genomes American Sub 13662 (C)4=1.00000 delC=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3324 (C)4=1.0000 delC=0.0000
gnomAD - Genomes East Asian Sub 3134 (C)4=0.9997 delC=0.0003
gnomAD - Genomes Other Sub 2148 (C)4=1.0000 delC=0.0000
Allele Frequency Aggregator Total Global 11862 (C)4=1.00000 delC=0.00000, dupC=0.00000
Allele Frequency Aggregator European Sub 7618 (C)4=1.0000 delC=0.0000, dupC=0.0000
Allele Frequency Aggregator African Sub 2816 (C)4=1.0000 delC=0.0000, dupC=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 (C)4=1.000 delC=0.000, dupC=0.000
Allele Frequency Aggregator Other Sub 470 (C)4=1.000 delC=0.000, dupC=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 (C)4=1.000 delC=0.000, dupC=0.000
Allele Frequency Aggregator Asian Sub 108 (C)4=1.000 delC=0.000, dupC=0.000
Allele Frequency Aggregator South Asian Sub 94 (C)4=1.00 delC=0.00, dupC=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 11 NC_000011.10:g.8911621del
GRCh38.p14 chr 11 NC_000011.10:g.8911621dup
GRCh37.p13 chr 11 NC_000011.9:g.8933168del
GRCh37.p13 chr 11 NC_000011.9:g.8933168dup
DENND2B RefSeqGene NG_029450.1:g.4334del
DENND2B RefSeqGene NG_029450.1:g.4334dup
AKIP1 RefSeqGene NG_030417.1:g.5468del
AKIP1 RefSeqGene NG_030417.1:g.5468dup
Gene: DENND2B, DENN domain containing 2B (minus strand) : 2KB Upstream Variant
Molecule type Change Amino acid[Codon] SO Term
DENND2B transcript variant 1 NM_005418.4:c. N/A Upstream Transcript Variant
DENND2B transcript variant 4 NM_001376495.1:c. N/A N/A
DENND2B transcript variant 5 NM_001376496.1:c. N/A N/A
DENND2B transcript variant 6 NM_001376497.1:c. N/A N/A
DENND2B transcript variant 7 NM_001376498.1:c. N/A N/A
DENND2B transcript variant 8 NM_001376499.1:c. N/A N/A
DENND2B transcript variant 9 NM_001376500.1:c. N/A N/A
DENND2B transcript variant 10 NM_001376501.1:c. N/A N/A
DENND2B transcript variant 11 NM_001376502.1:c. N/A N/A
DENND2B transcript variant 12 NM_001376503.1:c. N/A N/A
DENND2B transcript variant 13 NM_001376504.1:c. N/A N/A
DENND2B transcript variant 14 NM_001376505.1:c. N/A N/A
DENND2B transcript variant 15 NM_001376506.1:c. N/A N/A
DENND2B transcript variant 2 NM_139157.3:c. N/A N/A
DENND2B transcript variant 3 NM_213618.2:c. N/A N/A
DENND2B transcript variant 16 NR_164814.1:n. N/A N/A
DENND2B transcript variant 17 NR_164815.1:n. N/A N/A
DENND2B transcript variant 18 NR_164816.1:n. N/A N/A
DENND2B transcript variant 19 NR_164817.1:n. N/A N/A
DENND2B transcript variant 20 NR_164818.1:n. N/A N/A
DENND2B transcript variant 21 NR_164819.1:n. N/A N/A
DENND2B transcript variant 22 NR_164820.1:n. N/A N/A
DENND2B transcript variant 23 NR_164821.1:n. N/A N/A
DENND2B transcript variant 24 NR_164822.1:n. N/A N/A
Gene: AKIP1, A-kinase interacting protein 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
AKIP1 transcript variant 1 NM_020642.4:c.172del H [CAC] > T [AC] Coding Sequence Variant
A-kinase-interacting protein 1 isoform a NP_065693.2:p.His58fs H (His) > T (Thr) Frameshift Variant
AKIP1 transcript variant 1 NM_020642.4:c.172dup H [CAC] > P [CCAC] Coding Sequence Variant
A-kinase-interacting protein 1 isoform a NP_065693.2:p.His58fs H (His) > P (Pro) Frameshift Variant
AKIP1 transcript variant 4 NM_001206648.2:c.172del H [CAC] > T [AC] Coding Sequence Variant
A-kinase-interacting protein 1 isoform d NP_001193577.1:p.His58fs H (His) > T (Thr) Frameshift Variant
AKIP1 transcript variant 4 NM_001206648.2:c.172dup H [CAC] > P [CCAC] Coding Sequence Variant
A-kinase-interacting protein 1 isoform d NP_001193577.1:p.His58fs H (His) > P (Pro) Frameshift Variant
AKIP1 transcript variant 3 NM_001206647.2:c.172del H [CAC] > T [AC] Coding Sequence Variant
A-kinase-interacting protein 1 isoform c NP_001193576.1:p.His58fs H (His) > T (Thr) Frameshift Variant
AKIP1 transcript variant 3 NM_001206647.2:c.172dup H [CAC] > P [CCAC] Coding Sequence Variant
A-kinase-interacting protein 1 isoform c NP_001193576.1:p.His58fs H (His) > P (Pro) Frameshift Variant
AKIP1 transcript variant 2 NM_001206646.2:c.172del H [CAC] > T [AC] Coding Sequence Variant
A-kinase-interacting protein 1 isoform b NP_001193575.1:p.His58fs H (His) > T (Thr) Frameshift Variant
AKIP1 transcript variant 2 NM_001206646.2:c.172dup H [CAC] > P [CCAC] Coding Sequence Variant
A-kinase-interacting protein 1 isoform b NP_001193575.1:p.His58fs H (His) > P (Pro) Frameshift Variant
AKIP1 transcript variant 5 NR_045417.2:n.433del N/A Non Coding Transcript Variant
AKIP1 transcript variant 5 NR_045417.2:n.433dup N/A Non Coding Transcript Variant
AKIP1 transcript variant 6 NR_045418.2:n.433del N/A Non Coding Transcript Variant
AKIP1 transcript variant 6 NR_045418.2:n.433dup N/A Non Coding Transcript Variant
AKIP1 transcript variant X1 XM_017018011.2:c.172del H [CAC] > T [AC] Coding Sequence Variant
A-kinase-interacting protein 1 isoform X1 XP_016873500.1:p.His58fs H (His) > T (Thr) Frameshift Variant
AKIP1 transcript variant X1 XM_017018011.2:c.172dup H [CAC] > P [CCAC] Coding Sequence Variant
A-kinase-interacting protein 1 isoform X1 XP_016873500.1:p.His58fs H (His) > P (Pro) Frameshift Variant
AKIP1 transcript variant X2 XM_047427261.1:c.172del H [CAC] > T [AC] Coding Sequence Variant
A-kinase-interacting protein 1 isoform X2 XP_047283217.1:p.His58fs H (His) > T (Thr) Frameshift Variant
AKIP1 transcript variant X2 XM_047427261.1:c.172dup H [CAC] > P [CCAC] Coding Sequence Variant
A-kinase-interacting protein 1 isoform X2 XP_047283217.1:p.His58fs H (His) > P (Pro) Frameshift 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)4= delC dupC
GRCh38.p14 chr 11 NC_000011.10:g.8911618_8911621= NC_000011.10:g.8911621del NC_000011.10:g.8911621dup
GRCh37.p13 chr 11 NC_000011.9:g.8933165_8933168= NC_000011.9:g.8933168del NC_000011.9:g.8933168dup
DENND2B RefSeqGene NG_029450.1:g.4331_4334= NG_029450.1:g.4334del NG_029450.1:g.4334dup
AKIP1 RefSeqGene NG_030417.1:g.5465_5468= NG_030417.1:g.5468del NG_030417.1:g.5468dup
AKIP1 transcript variant 1 NM_020642.4:c.169_172= NM_020642.4:c.172del NM_020642.4:c.172dup
AKIP1 transcript variant 1 NM_020642.3:c.169_172= NM_020642.3:c.172del NM_020642.3:c.172dup
AKIP1 transcript variant 5 NR_045417.2:n.430_433= NR_045417.2:n.433del NR_045417.2:n.433dup
AKIP1 transcript variant 5 NR_045417.1:n.427_430= NR_045417.1:n.430del NR_045417.1:n.430dup
AKIP1 transcript variant 6 NR_045418.2:n.430_433= NR_045418.2:n.433del NR_045418.2:n.433dup
AKIP1 transcript variant 6 NR_045418.1:n.427_430= NR_045418.1:n.430del NR_045418.1:n.430dup
AKIP1 transcript variant 3 NM_001206647.2:c.169_172= NM_001206647.2:c.172del NM_001206647.2:c.172dup
AKIP1 transcript variant 3 NM_001206647.1:c.169_172= NM_001206647.1:c.172del NM_001206647.1:c.172dup
AKIP1 transcript variant 2 NM_001206646.2:c.169_172= NM_001206646.2:c.172del NM_001206646.2:c.172dup
AKIP1 transcript variant 2 NM_001206646.1:c.169_172= NM_001206646.1:c.172del NM_001206646.1:c.172dup
AKIP1 transcript variant 4 NM_001206648.2:c.169_172= NM_001206648.2:c.172del NM_001206648.2:c.172dup
AKIP1 transcript variant 4 NM_001206648.1:c.169_172= NM_001206648.1:c.172del NM_001206648.1:c.172dup
AKIP1 transcript variant 1 NM_182901.3:c.169_172= NM_182901.3:c.172del NM_182901.3:c.172dup
AKIP1 transcript variant 1 NM_182901.2:c.169_172= NM_182901.2:c.172del NM_182901.2:c.172dup
AKIP1 transcript variant X1 XM_017018011.2:c.169_172= XM_017018011.2:c.172del XM_017018011.2:c.172dup
AKIP1 transcript variant X1 XM_017018011.1:c.169_172= XM_017018011.1:c.172del XM_017018011.1:c.172dup
AKIP1 transcript variant 3 NM_001206645.1:c.169_172= NM_001206645.1:c.172del NM_001206645.1:c.172dup
AKIP1 transcript variant X2 XM_047427261.1:c.169_172= XM_047427261.1:c.172del XM_047427261.1:c.172dup
C11orf17 transcript variant 1 NM_182901.1:c.169_172= NM_182901.1:c.172del NM_182901.1:c.172dup
A-kinase-interacting protein 1 isoform a NP_065693.2:p.Pro57_His58= NP_065693.2:p.His58fs NP_065693.2:p.His58fs
A-kinase-interacting protein 1 isoform c NP_001193576.1:p.Pro57_His58= NP_001193576.1:p.His58fs NP_001193576.1:p.His58fs
A-kinase-interacting protein 1 isoform b NP_001193575.1:p.Pro57_His58= NP_001193575.1:p.His58fs NP_001193575.1:p.His58fs
A-kinase-interacting protein 1 isoform d NP_001193577.1:p.Pro57_His58= NP_001193577.1:p.His58fs NP_001193577.1:p.His58fs
A-kinase-interacting protein 1 isoform X1 XP_016873500.1:p.Pro57_His58= XP_016873500.1:p.His58fs XP_016873500.1:p.His58fs
A-kinase-interacting protein 1 isoform X2 XP_047283217.1:p.Pro57_His58= XP_047283217.1:p.His58fs XP_047283217.1:p.His58fs
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#.

5 SubSNP, 5 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2738791565 Nov 08, 2017 (151)
2 GNOMAD ss2748559813 Nov 08, 2017 (151)
3 GNOMAD ss2896158185 Nov 08, 2017 (151)
4 TOPMED ss4874658029 Apr 26, 2021 (155)
5 TOPMED ss4874658031 Apr 26, 2021 (155)
6 gnomAD - Genomes NC_000011.10 - 8911618 Apr 26, 2021 (155)
7 gnomAD - Exomes NC_000011.9 - 8933165 Jul 13, 2019 (153)
8 TopMed

Submission ignored due to conflicting rows:
Row 90203685 (NC_000011.10:8911617::C 1/264690)
Row 90203687 (NC_000011.10:8911617:C: 6/264690)

- Apr 26, 2021 (155)
9 TopMed

Submission ignored due to conflicting rows:
Row 90203685 (NC_000011.10:8911617::C 1/264690)
Row 90203687 (NC_000011.10:8911617:C: 6/264690)

- Apr 26, 2021 (155)
10 ALFA NC_000011.10 - 8911618 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
8001056, ss2738791565, ss2748559813, ss2896158185 NC_000011.9:8933164:C: NC_000011.10:8911617:CCCC:CCC (self)
370910940, ss4874658031 NC_000011.10:8911617:C: NC_000011.10:8911617:CCCC:CCC (self)
8007633534 NC_000011.10:8911617:CCCC:CCC NC_000011.10:8911617:CCCC:CCC (self)
ss4874658029 NC_000011.10:8911617::C NC_000011.10:8911617:CCCC:CCCCC (self)
8007633534 NC_000011.10:8911617:CCCC:CCCCC NC_000011.10:8911617:CCCC:CCCCC (self)
Removed from this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Destination RSIDs
ss2343215481 NC_000011.9:8933164::C NC_000011.10:8911617:CCCC:CCCCC
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 rs933044487

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