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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.

rs1305976663

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr2:237771567-237771569 (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
delCC / delC / dupC
Variation Type
Indel Insertion and Deletion
Frequency
delCC=0.00000 (0/11692, ALFA)
delC=0.00000 (0/11692, ALFA)
dupC=0.00000 (0/11692, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
LRRFIP1 : 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 11692 CCC=1.00000 C=0.00000, CC=0.00000, CCCC=0.00000 1.0 0.0 0.0 N/A
European Sub 7614 CCC=1.0000 C=0.0000, CC=0.0000, CCCC=0.0000 1.0 0.0 0.0 N/A
African Sub 2666 CCC=1.0000 C=0.0000, CC=0.0000, CCCC=0.0000 1.0 0.0 0.0 N/A
African Others Sub 104 CCC=1.000 C=0.000, CC=0.000, CCCC=0.000 1.0 0.0 0.0 N/A
African American Sub 2562 CCC=1.0000 C=0.0000, CC=0.0000, CCCC=0.0000 1.0 0.0 0.0 N/A
Asian Sub 106 CCC=1.000 C=0.000, CC=0.000, CCCC=0.000 1.0 0.0 0.0 N/A
East Asian Sub 82 CCC=1.00 C=0.00, CC=0.00, CCCC=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 24 CCC=1.00 C=0.00, CC=0.00, CCCC=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 144 CCC=1.000 C=0.000, CC=0.000, CCCC=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 608 CCC=1.000 C=0.000, CC=0.000, CCCC=0.000 1.0 0.0 0.0 N/A
South Asian Sub 94 CCC=1.00 C=0.00, CC=0.00, CCCC=0.00 1.0 0.0 0.0 N/A
Other Sub 460 CCC=1.000 C=0.000, CC=0.000, CCCC=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
Allele Frequency Aggregator Total Global 11692 CCC=1.00000 delCC=0.00000, delC=0.00000, dupC=0.00000
Allele Frequency Aggregator European Sub 7614 CCC=1.0000 delCC=0.0000, delC=0.0000, dupC=0.0000
Allele Frequency Aggregator African Sub 2666 CCC=1.0000 delCC=0.0000, delC=0.0000, dupC=0.0000
Allele Frequency Aggregator Latin American 2 Sub 608 CCC=1.000 delCC=0.000, delC=0.000, dupC=0.000
Allele Frequency Aggregator Other Sub 460 CCC=1.000 delCC=0.000, delC=0.000, dupC=0.000
Allele Frequency Aggregator Latin American 1 Sub 144 CCC=1.000 delCC=0.000, delC=0.000, dupC=0.000
Allele Frequency Aggregator Asian Sub 106 CCC=1.000 delCC=0.000, delC=0.000, dupC=0.000
Allele Frequency Aggregator South Asian Sub 94 CCC=1.00 delCC=0.00, 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 2 NC_000002.12:g.237771568_237771569del
GRCh38.p14 chr 2 NC_000002.12:g.237771569del
GRCh38.p14 chr 2 NC_000002.12:g.237771569dup
GRCh37.p13 chr 2 NC_000002.11:g.238680211_238680212del
GRCh37.p13 chr 2 NC_000002.11:g.238680212del
GRCh37.p13 chr 2 NC_000002.11:g.238680212dup
Gene: LRRFIP1, LRR binding FLII interacting protein 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
LRRFIP1 transcript variant 1 NM_001137550.2:c.1510-513…

NM_001137550.2:c.1510-513_1510-512del

 		N/A Intron Variant
LRRFIP1 transcript variant 2 NM_001137551.2:c.772-513_…

NM_001137551.2:c.772-513_772-512del

 		N/A Intron Variant
LRRFIP1 transcript variant 3 NM_001137552.2:c. N/A Genic Downstream Transcript Variant
LRRFIP1 transcript variant 5 NM_001137553.2:c. N/A Genic Downstream Transcript Variant
LRRFIP1 transcript variant 4 NM_004735.4:c. N/A Genic Downstream Transcript Variant
LRRFIP1 transcript variant X42 XM_005246141.5:c.874-513_…

XM_005246141.5:c.874-513_874-512del

 		N/A Intron Variant
LRRFIP1 transcript variant X45 XM_005246142.3:c.802-513_…

XM_005246142.3:c.802-513_802-512del

 		N/A Intron Variant
LRRFIP1 transcript variant X34 XM_017005257.3:c.1438-513…

XM_017005257.3:c.1438-513_1438-512del

 		N/A Intron Variant
LRRFIP1 transcript variant X35 XM_017005260.3:c.1213-513…

XM_017005260.3:c.1213-513_1213-512del

 		N/A Intron Variant
LRRFIP1 transcript variant X36 XM_017005262.3:c.1150-513…

XM_017005262.3:c.1150-513_1150-512del

 		N/A Intron Variant
LRRFIP1 transcript variant X38 XM_017005263.3:c.988-513_…

XM_017005263.3:c.988-513_988-512del

 		N/A Intron Variant
LRRFIP1 transcript variant X37 XM_047446326.1:c.1006-513…

XM_047446326.1:c.1006-513_1006-512del

 		N/A Intron Variant
LRRFIP1 transcript variant X39 XM_047446327.1:c.940-513_…

XM_047446327.1:c.940-513_940-512del

 		N/A Intron Variant
LRRFIP1 transcript variant X40 XM_047446328.1:c.934-513_…

XM_047446328.1:c.934-513_934-512del

 		N/A Intron Variant
LRRFIP1 transcript variant X41 XM_047446329.1:c.928-513_…

XM_047446329.1:c.928-513_928-512del

 		N/A Intron Variant
LRRFIP1 transcript variant X43 XM_047446330.1:c.868-513_…

XM_047446330.1:c.868-513_868-512del

 		N/A Intron Variant
LRRFIP1 transcript variant X44 XM_047446331.1:c.844-513_…

XM_047446331.1:c.844-513_844-512del

 		N/A Intron Variant
LRRFIP1 transcript variant X1 XM_047446293.1:c. N/A Genic Downstream Transcript Variant
LRRFIP1 transcript variant X2 XM_047446294.1:c. N/A Genic Downstream Transcript Variant
LRRFIP1 transcript variant X3 XM_047446295.1:c. N/A Genic Downstream Transcript Variant
LRRFIP1 transcript variant X4 XM_047446296.1:c. N/A Genic Downstream Transcript Variant
LRRFIP1 transcript variant X5 XM_047446297.1:c. N/A Genic Downstream Transcript Variant
LRRFIP1 transcript variant X6 XM_047446298.1:c. N/A Genic Downstream Transcript Variant
LRRFIP1 transcript variant X7 XM_047446299.1:c. N/A Genic Downstream Transcript Variant
LRRFIP1 transcript variant X8 XM_047446300.1:c. N/A Genic Downstream Transcript Variant
LRRFIP1 transcript variant X9 XM_047446301.1:c. N/A Genic Downstream Transcript Variant
LRRFIP1 transcript variant X10 XM_047446302.1:c. N/A Genic Downstream Transcript Variant
LRRFIP1 transcript variant X11 XM_047446303.1:c. N/A Genic Downstream Transcript Variant
LRRFIP1 transcript variant X12 XM_047446304.1:c. N/A Genic Downstream Transcript Variant
LRRFIP1 transcript variant X13 XM_047446305.1:c. N/A Genic Downstream Transcript Variant
LRRFIP1 transcript variant X14 XM_047446306.1:c. N/A Genic Downstream Transcript Variant
LRRFIP1 transcript variant X15 XM_047446307.1:c. N/A Genic Downstream Transcript Variant
LRRFIP1 transcript variant X16 XM_047446308.1:c. N/A Genic Downstream Transcript Variant
LRRFIP1 transcript variant X17 XM_047446309.1:c. N/A Genic Downstream Transcript Variant
LRRFIP1 transcript variant X18 XM_047446310.1:c. N/A Genic Downstream Transcript Variant
LRRFIP1 transcript variant X19 XM_047446311.1:c. N/A Genic Downstream Transcript Variant
LRRFIP1 transcript variant X20 XM_047446312.1:c. N/A Genic Downstream Transcript Variant
LRRFIP1 transcript variant X21 XM_047446313.1:c. N/A Genic Downstream Transcript Variant
LRRFIP1 transcript variant X22 XM_047446314.1:c. N/A Genic Downstream Transcript Variant
LRRFIP1 transcript variant X23 XM_047446315.1:c. N/A Genic Downstream Transcript Variant
LRRFIP1 transcript variant X24 XM_047446316.1:c. N/A Genic Downstream Transcript Variant
LRRFIP1 transcript variant X25 XM_047446317.1:c. N/A Genic Downstream Transcript Variant
LRRFIP1 transcript variant X26 XM_047446318.1:c. N/A Genic Downstream Transcript Variant
LRRFIP1 transcript variant X27 XM_047446319.1:c. N/A Genic Downstream Transcript Variant
LRRFIP1 transcript variant X28 XM_047446320.1:c. N/A Genic Downstream Transcript Variant
LRRFIP1 transcript variant X29 XM_047446321.1:c. N/A Genic Downstream Transcript Variant
LRRFIP1 transcript variant X30 XM_047446322.1:c. N/A Genic Downstream Transcript Variant
LRRFIP1 transcript variant X31 XM_047446323.1:c. N/A Genic Downstream Transcript Variant
LRRFIP1 transcript variant X32 XM_047446324.1:c. N/A Genic Downstream Transcript Variant
LRRFIP1 transcript variant X33 XM_047446325.1:c. 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 CCC= delCC delC dupC
GRCh38.p14 chr 2 NC_000002.12:g.237771567_237771569= NC_000002.12:g.237771568_237771569del NC_000002.12:g.237771569del NC_000002.12:g.237771569dup
GRCh37.p13 chr 2 NC_000002.11:g.238680210_238680212= NC_000002.11:g.238680211_238680212del NC_000002.11:g.238680212del NC_000002.11:g.238680212dup
LRRFIP1 transcript variant 1 NM_001137550.1:c.1510-514= NM_001137550.1:c.1510-513_1510-512del NM_001137550.1:c.1510-512del NM_001137550.1:c.1510-512dup
LRRFIP1 transcript variant 1 NM_001137550.2:c.1510-514= NM_001137550.2:c.1510-513_1510-512del NM_001137550.2:c.1510-512del NM_001137550.2:c.1510-512dup
LRRFIP1 transcript variant 2 NM_001137551.1:c.772-514= NM_001137551.1:c.772-513_772-512del NM_001137551.1:c.772-512del NM_001137551.1:c.772-512dup
LRRFIP1 transcript variant 2 NM_001137551.2:c.772-514= NM_001137551.2:c.772-513_772-512del NM_001137551.2:c.772-512del NM_001137551.2:c.772-512dup
LRRFIP1 transcript variant X26 XM_005246137.1:c.1573-514= XM_005246137.1:c.1573-513_1573-512del XM_005246137.1:c.1573-512del XM_005246137.1:c.1573-512dup
LRRFIP1 transcript variant X27 XM_005246138.1:c.1573-514= XM_005246138.1:c.1573-513_1573-512del XM_005246138.1:c.1573-512del XM_005246138.1:c.1573-512dup
LRRFIP1 transcript variant X28 XM_005246139.1:c.1387-514= XM_005246139.1:c.1387-513_1387-512del XM_005246139.1:c.1387-512del XM_005246139.1:c.1387-512dup
LRRFIP1 transcript variant X29 XM_005246140.1:c.1315-514= XM_005246140.1:c.1315-513_1315-512del XM_005246140.1:c.1315-512del XM_005246140.1:c.1315-512dup
LRRFIP1 transcript variant X30 XM_005246141.1:c.874-514= XM_005246141.1:c.874-513_874-512del XM_005246141.1:c.874-512del XM_005246141.1:c.874-512dup
LRRFIP1 transcript variant X42 XM_005246141.5:c.874-514= XM_005246141.5:c.874-513_874-512del XM_005246141.5:c.874-512del XM_005246141.5:c.874-512dup
LRRFIP1 transcript variant X44 XM_005246142.1:c.802-514= XM_005246142.1:c.802-513_802-512del XM_005246142.1:c.802-512del XM_005246142.1:c.802-512dup
LRRFIP1 transcript variant X45 XM_005246142.3:c.802-514= XM_005246142.3:c.802-513_802-512del XM_005246142.3:c.802-512del XM_005246142.3:c.802-512dup
LRRFIP1 transcript variant X34 XM_017005257.3:c.1438-514= XM_017005257.3:c.1438-513_1438-512del XM_017005257.3:c.1438-512del XM_017005257.3:c.1438-512dup
LRRFIP1 transcript variant X35 XM_017005260.3:c.1213-514= XM_017005260.3:c.1213-513_1213-512del XM_017005260.3:c.1213-512del XM_017005260.3:c.1213-512dup
LRRFIP1 transcript variant X36 XM_017005262.3:c.1150-514= XM_017005262.3:c.1150-513_1150-512del XM_017005262.3:c.1150-512del XM_017005262.3:c.1150-512dup
LRRFIP1 transcript variant X38 XM_017005263.3:c.988-514= XM_017005263.3:c.988-513_988-512del XM_017005263.3:c.988-512del XM_017005263.3:c.988-512dup
LRRFIP1 transcript variant X37 XM_047446326.1:c.1006-514= XM_047446326.1:c.1006-513_1006-512del XM_047446326.1:c.1006-512del XM_047446326.1:c.1006-512dup
LRRFIP1 transcript variant X39 XM_047446327.1:c.940-514= XM_047446327.1:c.940-513_940-512del XM_047446327.1:c.940-512del XM_047446327.1:c.940-512dup
LRRFIP1 transcript variant X40 XM_047446328.1:c.934-514= XM_047446328.1:c.934-513_934-512del XM_047446328.1:c.934-512del XM_047446328.1:c.934-512dup
LRRFIP1 transcript variant X41 XM_047446329.1:c.928-514= XM_047446329.1:c.928-513_928-512del XM_047446329.1:c.928-512del XM_047446329.1:c.928-512dup
LRRFIP1 transcript variant X43 XM_047446330.1:c.868-514= XM_047446330.1:c.868-513_868-512del XM_047446330.1:c.868-512del XM_047446330.1:c.868-512dup
LRRFIP1 transcript variant X44 XM_047446331.1:c.844-514= XM_047446331.1:c.844-513_844-512del XM_047446331.1:c.844-512del XM_047446331.1:c.844-512dup
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 ss4063704662 Apr 27, 2021 (155)
2 GNOMAD ss4063704664 Apr 27, 2021 (155)
3 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 95335810 (NC_000002.12:237771566::C 1/54928)
Row 95335812 (NC_000002.12:237771566:C: 53/54922)

- Apr 27, 2021 (155)
4 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 95335810 (NC_000002.12:237771566::C 1/54928)
Row 95335812 (NC_000002.12:237771566:C: 53/54922)

- Apr 27, 2021 (155)
5 ALFA NC_000002.12 - 237771567 Apr 27, 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
6363497018 NC_000002.12:237771566:CCC:C NC_000002.12:237771566:CCC:C (self)
ss4063704664 NC_000002.12:237771566:C: NC_000002.12:237771566:CCC:CC (self)
6363497018 NC_000002.12:237771566:CCC:CC NC_000002.12:237771566:CCC:CC (self)
ss4063704662 NC_000002.12:237771566::C NC_000002.12:237771566:CCC:CCCC (self)
6363497018 NC_000002.12:237771566:CCC:CCCC NC_000002.12:237771566:CCC:CCCC (self)
Removed from this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Destination RSIDs
ss3342367456 NC_000002.12:237771566:CC: NC_000002.12:237771566:CCC:C
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 rs1305976663

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