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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.

rs1486784723

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr2:189676549 (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>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.000015 (4/264690, TOPMED)
G=0.000007 (1/140002, GnomAD)
G=0.00000 (0/10680, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ANKAR : 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 10680 C=1.00000 G=0.00000 1.0 0.0 0.0 N/A
European Sub 6962 C=1.0000 G=0.0000 1.0 0.0 0.0 N/A
African Sub 2294 C=1.0000 G=0.0000 1.0 0.0 0.0 N/A
African Others Sub 84 C=1.00 G=0.00 1.0 0.0 0.0 N/A
African American Sub 2210 C=1.0000 G=0.0000 1.0 0.0 0.0 N/A
Asian Sub 108 C=1.000 G=0.000 1.0 0.0 0.0 N/A
East Asian Sub 84 C=1.00 G=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 24 C=1.00 G=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 C=1.000 G=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 C=1.000 G=0.000 1.0 0.0 0.0 N/A
South Asian Sub 94 C=1.00 G=0.00 1.0 0.0 0.0 N/A
Other Sub 466 C=1.000 G=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=0.999985 G=0.000015
gnomAD - Genomes Global Study-wide 140002 C=0.999993 G=0.000007
gnomAD - Genomes European Sub 75850 C=1.00000 G=0.00000
gnomAD - Genomes African Sub 41926 C=0.99998 G=0.00002
gnomAD - Genomes American Sub 13632 C=1.00000 G=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3318 C=1.0000 G=0.0000
gnomAD - Genomes East Asian Sub 3132 C=1.0000 G=0.0000
gnomAD - Genomes Other Sub 2144 C=1.0000 G=0.0000
Allele Frequency Aggregator Total Global 10680 C=1.00000 G=0.00000
Allele Frequency Aggregator European Sub 6962 C=1.0000 G=0.0000
Allele Frequency Aggregator African Sub 2294 C=1.0000 G=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 C=1.000 G=0.000
Allele Frequency Aggregator Other Sub 466 C=1.000 G=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 C=1.000 G=0.000
Allele Frequency Aggregator Asian Sub 108 C=1.000 G=0.000
Allele Frequency Aggregator South Asian Sub 94 C=1.00 G=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 2 NC_000002.12:g.189676549C>G
GRCh37.p13 chr 2 NC_000002.11:g.190541275C>G
Gene: ANKAR, ankyrin and armadillo repeat containing (plus strand)
Molecule type Change Amino acid[Codon] SO Term
ANKAR transcript variant 2 NM_144708.3:c.59C>G T [ACC] > S [AGC] Coding Sequence Variant
ankyrin and armadillo repeat-containing protein NP_653309.3:p.Thr20Ser T (Thr) > S (Ser) Missense Variant
ANKAR transcript variant 1 NM_001378068.1:c.59C>G T [ACC] > S [AGC] Coding Sequence Variant
ankyrin and armadillo repeat-containing protein NP_001364997.1:p.Thr20Ser T (Thr) > S (Ser) Missense Variant
ANKAR transcript variant X10 XM_011510685.3:c.-47-351C…

XM_011510685.3:c.-47-351C>G

 		N/A Intron Variant
ANKAR transcript variant X19 XM_047443455.1:c. N/A Genic Upstream Transcript Variant
ANKAR transcript variant X20 XM_047443456.1:c. N/A Genic Upstream Transcript Variant
ANKAR transcript variant X1 XM_011510673.3:c.59C>G T [ACC] > S [AGC] Coding Sequence Variant
ankyrin and armadillo repeat-containing protein isoform X1 XP_011508975.1:p.Thr20Ser T (Thr) > S (Ser) Missense Variant
ANKAR transcript variant X2 XM_011510675.3:c.59C>G T [ACC] > S [AGC] Coding Sequence Variant
ankyrin and armadillo repeat-containing protein isoform X2 XP_011508977.1:p.Thr20Ser T (Thr) > S (Ser) Missense Variant
ANKAR transcript variant X3 XM_011510676.3:c.59C>G T [ACC] > S [AGC] Coding Sequence Variant
ankyrin and armadillo repeat-containing protein isoform X3 XP_011508978.1:p.Thr20Ser T (Thr) > S (Ser) Missense Variant
ANKAR transcript variant X4 XM_011510677.3:c.59C>G T [ACC] > S [AGC] Coding Sequence Variant
ankyrin and armadillo repeat-containing protein isoform X4 XP_011508979.1:p.Thr20Ser T (Thr) > S (Ser) Missense Variant
ANKAR transcript variant X5 XM_011510679.3:c.59C>G T [ACC] > S [AGC] Coding Sequence Variant
ankyrin and armadillo repeat-containing protein isoform X5 XP_011508981.1:p.Thr20Ser T (Thr) > S (Ser) Missense Variant
ANKAR transcript variant X6 XM_011510682.3:c.59C>G T [ACC] > S [AGC] Coding Sequence Variant
ankyrin and armadillo repeat-containing protein isoform X6 XP_011508984.1:p.Thr20Ser T (Thr) > S (Ser) Missense Variant
ANKAR transcript variant X7 XM_017003413.2:c.59C>G T [ACC] > S [AGC] Coding Sequence Variant
ankyrin and armadillo repeat-containing protein isoform X6 XP_016858902.1:p.Thr20Ser T (Thr) > S (Ser) Missense Variant
ANKAR transcript variant X8 XM_011510680.2:c.59C>G T [ACC] > S [AGC] Coding Sequence Variant
ankyrin and armadillo repeat-containing protein isoform X6 XP_011508982.1:p.Thr20Ser T (Thr) > S (Ser) Missense Variant
ANKAR transcript variant X9 XM_011510681.2:c.59C>G T [ACC] > S [AGC] Coding Sequence Variant
ankyrin and armadillo repeat-containing protein isoform X6 XP_011508983.1:p.Thr20Ser T (Thr) > S (Ser) Missense Variant
ANKAR transcript variant X11 XM_011510686.3:c.59C>G T [ACC] > S [AGC] Coding Sequence Variant
ankyrin and armadillo repeat-containing protein isoform X8 XP_011508988.1:p.Thr20Ser T (Thr) > S (Ser) Missense Variant
ANKAR transcript variant X12 XM_011510688.2:c.59C>G T [ACC] > S [AGC] Coding Sequence Variant
ankyrin and armadillo repeat-containing protein isoform X9 XP_011508990.1:p.Thr20Ser T (Thr) > S (Ser) Missense Variant
ANKAR transcript variant X15 XM_047443451.1:c.59C>G T [ACC] > S [AGC] Coding Sequence Variant
ankyrin and armadillo repeat-containing protein isoform X10 XP_047299407.1:p.Thr20Ser T (Thr) > S (Ser) Missense Variant
ANKAR transcript variant X16 XM_047443452.1:c.59C>G T [ACC] > S [AGC] Coding Sequence Variant
ankyrin and armadillo repeat-containing protein isoform X11 XP_047299408.1:p.Thr20Ser T (Thr) > S (Ser) Missense Variant
ANKAR transcript variant X17 XM_047443453.1:c.59C>G T [ACC] > S [AGC] Coding Sequence Variant
ankyrin and armadillo repeat-containing protein isoform X12 XP_047299409.1:p.Thr20Ser T (Thr) > S (Ser) Missense Variant
ANKAR transcript variant X18 XM_047443454.1:c.59C>G T [ACC] > S [AGC] Coding Sequence Variant
ankyrin and armadillo repeat-containing protein isoform X13 XP_047299410.1:p.Thr20Ser T (Thr) > S (Ser) Missense Variant
ANKAR transcript variant X21 XM_017003417.2:c.59C>G T [ACC] > S [AGC] Coding Sequence Variant
ankyrin and armadillo repeat-containing protein isoform X16 XP_016858906.1:p.Thr20Ser T (Thr) > S (Ser) Missense Variant
ANKAR transcript variant X22 XM_024452719.2:c.59C>G T [ACC] > S [AGC] Coding Sequence Variant
ankyrin and armadillo repeat-containing protein isoform X17 XP_024308487.1:p.Thr20Ser T (Thr) > S (Ser) Missense Variant
ANKAR transcript variant X13 XR_001738640.2:n.255C>G N/A Non Coding Transcript Variant
ANKAR transcript variant X14 XR_922865.3:n.255C>G N/A Non Coding 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 C= G
GRCh38.p14 chr 2 NC_000002.12:g.189676549= NC_000002.12:g.189676549C>G
GRCh37.p13 chr 2 NC_000002.11:g.190541275= NC_000002.11:g.190541275C>G
ANKAR transcript variant X3 XM_011510676.3:c.59= XM_011510676.3:c.59C>G
ANKAR transcript variant X4 XM_011510676.2:c.59= XM_011510676.2:c.59C>G
ANKAR transcript variant X4 XM_011510676.1:c.59= XM_011510676.1:c.59C>G
ANKAR transcript variant X1 XM_011510673.3:c.59= XM_011510673.3:c.59C>G
ANKAR transcript variant X1 XM_011510673.2:c.59= XM_011510673.2:c.59C>G
ANKAR transcript variant X1 XM_011510673.1:c.59= XM_011510673.1:c.59C>G
ANKAR transcript variant X4 XM_011510677.3:c.59= XM_011510677.3:c.59C>G
ANKAR transcript variant X5 XM_011510677.2:c.59= XM_011510677.2:c.59C>G
ANKAR transcript variant X5 XM_011510677.1:c.59= XM_011510677.1:c.59C>G
ANKAR transcript variant X2 XM_011510675.3:c.59= XM_011510675.3:c.59C>G
ANKAR transcript variant X3 XM_011510675.2:c.59= XM_011510675.2:c.59C>G
ANKAR transcript variant X3 XM_011510675.1:c.59= XM_011510675.1:c.59C>G
ANKAR transcript variant 2 NM_144708.3:c.59= NM_144708.3:c.59C>G
ANKAR transcript variant X6 XM_011510682.3:c.59= XM_011510682.3:c.59C>G
ANKAR transcript variant X10 XM_011510682.2:c.59= XM_011510682.2:c.59C>G
ANKAR transcript variant X10 XM_011510682.1:c.59= XM_011510682.1:c.59C>G
ANKAR transcript variant X5 XM_011510679.3:c.59= XM_011510679.3:c.59C>G
ANKAR transcript variant X6 XM_011510679.2:c.59= XM_011510679.2:c.59C>G
ANKAR transcript variant X7 XM_011510679.1:c.59= XM_011510679.1:c.59C>G
ANKAR transcript variant X11 XM_011510686.3:c.59= XM_011510686.3:c.59C>G
ANKAR transcript variant X12 XM_011510686.2:c.59= XM_011510686.2:c.59C>G
ANKAR transcript variant X14 XM_011510686.1:c.59= XM_011510686.1:c.59C>G
ANKAR transcript variant X14 XR_922865.3:n.255= XR_922865.3:n.255C>G
ANKAR transcript variant X18 XR_922865.2:n.633= XR_922865.2:n.633C>G
ANKAR transcript variant X17 XR_922865.1:n.633= XR_922865.1:n.633C>G
ANKAR transcript variant X8 XM_011510680.2:c.59= XM_011510680.2:c.59C>G
ANKAR transcript variant X7 XM_011510680.1:c.59= XM_011510680.1:c.59C>G
ANKAR transcript variant X7 XM_017003413.2:c.59= XM_017003413.2:c.59C>G
ANKAR transcript variant X8 XM_017003413.1:c.59= XM_017003413.1:c.59C>G
ANKAR transcript variant X9 XM_011510681.2:c.59= XM_011510681.2:c.59C>G
ANKAR transcript variant X9 XM_011510681.1:c.59= XM_011510681.1:c.59C>G
ANKAR transcript variant X12 XM_011510688.2:c.59= XM_011510688.2:c.59C>G
ANKAR transcript variant X15 XM_011510688.1:c.59= XM_011510688.1:c.59C>G
ANKAR transcript variant X13 XR_001738640.2:n.255= XR_001738640.2:n.255C>G
ANKAR transcript variant X17 XR_001738640.1:n.633= XR_001738640.1:n.633C>G
ANKAR transcript variant X21 XM_017003417.2:c.59= XM_017003417.2:c.59C>G
ANKAR transcript variant X31 XM_017003417.1:c.59= XM_017003417.1:c.59C>G
ANKAR transcript variant X22 XM_024452719.2:c.59= XM_024452719.2:c.59C>G
ANKAR transcript variant X34 XM_024452719.1:c.59= XM_024452719.1:c.59C>G
ANKAR transcript variant 1 NM_001378068.1:c.59= NM_001378068.1:c.59C>G
ANKAR transcript variant X15 XM_047443451.1:c.59= XM_047443451.1:c.59C>G
ANKAR transcript variant X16 XM_047443452.1:c.59= XM_047443452.1:c.59C>G
ANKAR transcript variant X17 XM_047443453.1:c.59= XM_047443453.1:c.59C>G
ANKAR transcript variant X18 XM_047443454.1:c.59= XM_047443454.1:c.59C>G
ankyrin and armadillo repeat-containing protein isoform X3 XP_011508978.1:p.Thr20= XP_011508978.1:p.Thr20Ser
ankyrin and armadillo repeat-containing protein isoform X1 XP_011508975.1:p.Thr20= XP_011508975.1:p.Thr20Ser
ankyrin and armadillo repeat-containing protein isoform X4 XP_011508979.1:p.Thr20= XP_011508979.1:p.Thr20Ser
ankyrin and armadillo repeat-containing protein isoform X2 XP_011508977.1:p.Thr20= XP_011508977.1:p.Thr20Ser
ankyrin and armadillo repeat-containing protein NP_653309.3:p.Thr20= NP_653309.3:p.Thr20Ser
ankyrin and armadillo repeat-containing protein isoform X6 XP_011508984.1:p.Thr20= XP_011508984.1:p.Thr20Ser
ankyrin and armadillo repeat-containing protein isoform X5 XP_011508981.1:p.Thr20= XP_011508981.1:p.Thr20Ser
ankyrin and armadillo repeat-containing protein isoform X8 XP_011508988.1:p.Thr20= XP_011508988.1:p.Thr20Ser
ankyrin and armadillo repeat-containing protein isoform X6 XP_011508982.1:p.Thr20= XP_011508982.1:p.Thr20Ser
ankyrin and armadillo repeat-containing protein isoform X6 XP_016858902.1:p.Thr20= XP_016858902.1:p.Thr20Ser
ankyrin and armadillo repeat-containing protein isoform X6 XP_011508983.1:p.Thr20= XP_011508983.1:p.Thr20Ser
ankyrin and armadillo repeat-containing protein isoform X9 XP_011508990.1:p.Thr20= XP_011508990.1:p.Thr20Ser
ankyrin and armadillo repeat-containing protein isoform X16 XP_016858906.1:p.Thr20= XP_016858906.1:p.Thr20Ser
ankyrin and armadillo repeat-containing protein isoform X17 XP_024308487.1:p.Thr20= XP_024308487.1:p.Thr20Ser
ankyrin and armadillo repeat-containing protein NP_001364997.1:p.Thr20= NP_001364997.1:p.Thr20Ser
ankyrin and armadillo repeat-containing protein isoform X10 XP_047299407.1:p.Thr20= XP_047299407.1:p.Thr20Ser
ankyrin and armadillo repeat-containing protein isoform X11 XP_047299408.1:p.Thr20= XP_047299408.1:p.Thr20Ser
ankyrin and armadillo repeat-containing protein isoform X12 XP_047299409.1:p.Thr20= XP_047299409.1:p.Thr20Ser
ankyrin and armadillo repeat-containing protein isoform X13 XP_047299410.1:p.Thr20= XP_047299410.1:p.Thr20Ser
ANKAR transcript variant X10 XM_011510685.3:c.-47-351= XM_011510685.3:c.-47-351C>G
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, 3 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2746843420 Nov 08, 2017 (151)
2 GNOMAD ss2784230768 Nov 08, 2017 (151)
3 TOPMED ss4538132457 Apr 26, 2021 (155)
4 gnomAD - Genomes NC_000002.12 - 189676549 Apr 26, 2021 (155)
5 TopMed NC_000002.12 - 189676549 Apr 26, 2021 (155)
6 ALFA NC_000002.12 - 189676549 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
ss2746843420, ss2784230768 NC_000002.11:190541274:C:G NC_000002.12:189676548:C:G (self)
85503715, 341955336, 6780146732, ss4538132457 NC_000002.12:189676548:C:G NC_000002.12:189676548:C: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 rs1486784723

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