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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.

rs766938293

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr5:171878129 (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
T>A / T>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.000008 (2/264690, TOPMED)
C=0.000007 (1/140260, GnomAD)
C=0.000008 (1/120604, ExAC) (+ 1 more)
C=0.00000 (0/14050, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
FBXW11 : 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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 30412 T=0.99997 C=0.00003
European Sub 19780 T=1.00000 C=0.00000
African Sub 7736 T=0.9999 C=0.0001
African Others Sub 298 T=1.000 C=0.000
African American Sub 7438 T=0.9999 C=0.0001
Asian Sub 112 T=1.000 C=0.000
East Asian Sub 86 T=1.00 C=0.00
Other Asian Sub 26 T=1.00 C=0.00
Latin American 1 Sub 146 T=1.000 C=0.000
Latin American 2 Sub 610 T=1.000 C=0.000
South Asian Sub 98 T=1.00 C=0.00
Other Sub 1930 T=1.0000 C=0.0000


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 T=0.999992 C=0.000008
gnomAD - Genomes Global Study-wide 140260 T=0.999993 C=0.000007
gnomAD - Genomes European Sub 75942 T=1.00000 C=0.00000
gnomAD - Genomes African Sub 42052 T=0.99998 C=0.00002
gnomAD - Genomes American Sub 13662 T=1.00000 C=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3320 T=1.0000 C=0.0000
gnomAD - Genomes East Asian Sub 3134 T=1.0000 C=0.0000
gnomAD - Genomes Other Sub 2150 T=1.0000 C=0.0000
ExAC Global Study-wide 120604 T=0.999992 C=0.000008
ExAC Europe Sub 73036 T=1.00000 C=0.00000
ExAC Asian Sub 24756 T=1.00000 C=0.00000
ExAC American Sub 11536 T=1.00000 C=0.00000
ExAC African Sub 10374 T=0.99990 C=0.00010
ExAC Other Sub 902 T=1.000 C=0.000
Allele Frequency Aggregator Total Global 14050 T=1.00000 C=0.00000
Allele Frequency Aggregator European Sub 9690 T=1.0000 C=0.0000
Allele Frequency Aggregator African Sub 2898 T=1.0000 C=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 T=1.000 C=0.000
Allele Frequency Aggregator Other Sub 496 T=1.000 C=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 T=1.000 C=0.000
Allele Frequency Aggregator Asian Sub 112 T=1.000 C=0.000
Allele Frequency Aggregator South Asian Sub 98 T=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 5 NC_000005.10:g.171878129T>A
GRCh38.p14 chr 5 NC_000005.10:g.171878129T>C
GRCh37.p13 chr 5 NC_000005.9:g.171305133T>A
GRCh37.p13 chr 5 NC_000005.9:g.171305133T>C
FBXW11 RefSeqGene NG_009275.2:g.133745A>T
FBXW11 RefSeqGene NG_009275.2:g.133745A>G
Gene: FBXW11, F-box and WD repeat domain containing 11 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
FBXW11 transcript variant 3 NM_012300.3:c.790A>T I [ATA] > L [TTA] Coding Sequence Variant
F-box/WD repeat-containing protein 11 isoform C NP_036432.2:p.Ile264Leu I (Ile) > L (Leu) Missense Variant
FBXW11 transcript variant 3 NM_012300.3:c.790A>G I [ATA] > V [GTA] Coding Sequence Variant
F-box/WD repeat-containing protein 11 isoform C NP_036432.2:p.Ile264Val I (Ile) > V (Val) Missense Variant
FBXW11 transcript variant 7 NM_001378977.1:c.694A>T I [ATA] > L [TTA] Coding Sequence Variant
F-box/WD repeat-containing protein 11 isoform G NP_001365906.1:p.Ile232Leu I (Ile) > L (Leu) Missense Variant
FBXW11 transcript variant 7 NM_001378977.1:c.694A>G I [ATA] > V [GTA] Coding Sequence Variant
F-box/WD repeat-containing protein 11 isoform G NP_001365906.1:p.Ile232Val I (Ile) > V (Val) Missense Variant
FBXW11 transcript variant 10 NM_001378980.1:c.688A>T I [ATA] > L [TTA] Coding Sequence Variant
F-box/WD repeat-containing protein 11 isoform A NP_001365909.1:p.Ile230Leu I (Ile) > L (Leu) Missense Variant
FBXW11 transcript variant 10 NM_001378980.1:c.688A>G I [ATA] > V [GTA] Coding Sequence Variant
F-box/WD repeat-containing protein 11 isoform A NP_001365909.1:p.Ile230Val I (Ile) > V (Val) Missense Variant
FBXW11 transcript variant 6 NM_001378976.1:c.757A>T I [ATA] > L [TTA] Coding Sequence Variant
F-box/WD repeat-containing protein 11 isoform F NP_001365905.1:p.Ile253Leu I (Ile) > L (Leu) Missense Variant
FBXW11 transcript variant 6 NM_001378976.1:c.757A>G I [ATA] > V [GTA] Coding Sequence Variant
F-box/WD repeat-containing protein 11 isoform F NP_001365905.1:p.Ile253Val I (Ile) > V (Val) Missense Variant
FBXW11 transcript variant 4 NM_001378974.1:c.853A>T I [ATA] > L [TTA] Coding Sequence Variant
F-box/WD repeat-containing protein 11 isoform D NP_001365903.1:p.Ile285Leu I (Ile) > L (Leu) Missense Variant
FBXW11 transcript variant 4 NM_001378974.1:c.853A>G I [ATA] > V [GTA] Coding Sequence Variant
F-box/WD repeat-containing protein 11 isoform D NP_001365903.1:p.Ile285Val I (Ile) > V (Val) Missense Variant
FBXW11 transcript variant 5 NM_001378975.1:c.784A>T I [ATA] > L [TTA] Coding Sequence Variant
F-box/WD repeat-containing protein 11 isoform E NP_001365904.1:p.Ile262Leu I (Ile) > L (Leu) Missense Variant
FBXW11 transcript variant 5 NM_001378975.1:c.784A>G I [ATA] > V [GTA] Coding Sequence Variant
F-box/WD repeat-containing protein 11 isoform E NP_001365904.1:p.Ile262Val I (Ile) > V (Val) Missense Variant
FBXW11 transcript variant 9 NM_001378979.1:c.694A>T I [ATA] > L [TTA] Coding Sequence Variant
F-box/WD repeat-containing protein 11 isoform H NP_001365908.1:p.Ile232Leu I (Ile) > L (Leu) Missense Variant
FBXW11 transcript variant 9 NM_001378979.1:c.694A>G I [ATA] > V [GTA] Coding Sequence Variant
F-box/WD repeat-containing protein 11 isoform H NP_001365908.1:p.Ile232Val I (Ile) > V (Val) Missense Variant
FBXW11 transcript variant 8 NM_001378978.1:c.694A>T I [ATA] > L [TTA] Coding Sequence Variant
F-box/WD repeat-containing protein 11 isoform G NP_001365907.1:p.Ile232Leu I (Ile) > L (Leu) Missense Variant
FBXW11 transcript variant 8 NM_001378978.1:c.694A>G I [ATA] > V [GTA] Coding Sequence Variant
F-box/WD repeat-containing protein 11 isoform G NP_001365907.1:p.Ile232Val I (Ile) > V (Val) Missense Variant
FBXW11 transcript variant 1 NM_033645.3:c.688A>T I [ATA] > L [TTA] Coding Sequence Variant
F-box/WD repeat-containing protein 11 isoform A NP_387449.2:p.Ile230Leu I (Ile) > L (Leu) Missense Variant
FBXW11 transcript variant 1 NM_033645.3:c.688A>G I [ATA] > V [GTA] Coding Sequence Variant
F-box/WD repeat-containing protein 11 isoform A NP_387449.2:p.Ile230Val I (Ile) > V (Val) Missense Variant
FBXW11 transcript variant 2 NM_033644.3:c.751A>T I [ATA] > L [TTA] Coding Sequence Variant
F-box/WD repeat-containing protein 11 isoform B NP_387448.2:p.Ile251Leu I (Ile) > L (Leu) Missense Variant
FBXW11 transcript variant 2 NM_033644.3:c.751A>G I [ATA] > V [GTA] Coding Sequence Variant
F-box/WD repeat-containing protein 11 isoform B NP_387448.2:p.Ile251Val I (Ile) > V (Val) Missense Variant
FBXW11 transcript variant X2 XM_005265857.2:c.709A>T I [ATA] > L [TTA] Coding Sequence Variant
F-box/WD repeat-containing protein 11 isoform X2 XP_005265914.1:p.Ile237Leu I (Ile) > L (Leu) Missense Variant
FBXW11 transcript variant X2 XM_005265857.2:c.709A>G I [ATA] > V [GTA] Coding Sequence Variant
F-box/WD repeat-containing protein 11 isoform X2 XP_005265914.1:p.Ile237Val I (Ile) > V (Val) Missense Variant
FBXW11 transcript variant X1 XM_017009279.2:c.790A>T I [ATA] > L [TTA] Coding Sequence Variant
F-box/WD repeat-containing protein 11 isoform X1 XP_016864768.1:p.Ile264Leu I (Ile) > L (Leu) Missense Variant
FBXW11 transcript variant X1 XM_017009279.2:c.790A>G I [ATA] > V [GTA] Coding Sequence Variant
F-box/WD repeat-containing protein 11 isoform X1 XP_016864768.1:p.Ile264Val I (Ile) > V (Val) Missense Variant
FBXW11 transcript variant X3 XM_047417023.1:c.496A>T I [ATA] > L [TTA] Coding Sequence Variant
F-box/WD repeat-containing protein 11 isoform X3 XP_047272979.1:p.Ile166Leu I (Ile) > L (Leu) Missense Variant
FBXW11 transcript variant X3 XM_047417023.1:c.496A>G I [ATA] > V [GTA] Coding Sequence Variant
F-box/WD repeat-containing protein 11 isoform X3 XP_047272979.1:p.Ile166Val I (Ile) > V (Val) 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 T= A C
GRCh38.p14 chr 5 NC_000005.10:g.171878129= NC_000005.10:g.171878129T>A NC_000005.10:g.171878129T>C
GRCh37.p13 chr 5 NC_000005.9:g.171305133= NC_000005.9:g.171305133T>A NC_000005.9:g.171305133T>C
FBXW11 RefSeqGene NG_009275.2:g.133745= NG_009275.2:g.133745A>T NG_009275.2:g.133745A>G
FBXW11 transcript variant 3 NM_012300.3:c.790= NM_012300.3:c.790A>T NM_012300.3:c.790A>G
FBXW11 transcript variant 3 NM_012300.2:c.790= NM_012300.2:c.790A>T NM_012300.2:c.790A>G
FBXW11 transcript variant 2 NM_033644.3:c.751= NM_033644.3:c.751A>T NM_033644.3:c.751A>G
FBXW11 transcript variant 2 NM_033644.2:c.751= NM_033644.2:c.751A>T NM_033644.2:c.751A>G
FBXW11 transcript variant 1 NM_033645.3:c.688= NM_033645.3:c.688A>T NM_033645.3:c.688A>G
FBXW11 transcript variant 1 NM_033645.2:c.688= NM_033645.2:c.688A>T NM_033645.2:c.688A>G
FBXW11 transcript variant 6 NM_001378976.1:c.757= NM_001378976.1:c.757A>T NM_001378976.1:c.757A>G
FBXW11 transcript variant 9 NM_001378979.1:c.694= NM_001378979.1:c.694A>T NM_001378979.1:c.694A>G
FBXW11 transcript variant 7 NM_001378977.1:c.694= NM_001378977.1:c.694A>T NM_001378977.1:c.694A>G
FBXW11 transcript variant 8 NM_001378978.1:c.694= NM_001378978.1:c.694A>T NM_001378978.1:c.694A>G
FBXW11 transcript variant 4 NM_001378974.1:c.853= NM_001378974.1:c.853A>T NM_001378974.1:c.853A>G
FBXW11 transcript variant 5 NM_001378975.1:c.784= NM_001378975.1:c.784A>T NM_001378975.1:c.784A>G
FBXW11 transcript variant 10 NM_001378980.1:c.688= NM_001378980.1:c.688A>T NM_001378980.1:c.688A>G
FBXW11 transcript variant X1 XM_017009279.2:c.790= XM_017009279.2:c.790A>T XM_017009279.2:c.790A>G
FBXW11 transcript variant X2 XM_017009279.1:c.790= XM_017009279.1:c.790A>T XM_017009279.1:c.790A>G
FBXW11 transcript variant X2 XM_005265857.2:c.709= XM_005265857.2:c.709A>T XM_005265857.2:c.709A>G
FBXW11 transcript variant X3 XM_005265857.1:c.709= XM_005265857.1:c.709A>T XM_005265857.1:c.709A>G
FBXW11 transcript variant X3 XM_047417023.1:c.496= XM_047417023.1:c.496A>T XM_047417023.1:c.496A>G
F-box/WD repeat-containing protein 11 isoform C NP_036432.2:p.Ile264= NP_036432.2:p.Ile264Leu NP_036432.2:p.Ile264Val
F-box/WD repeat-containing protein 11 isoform B NP_387448.2:p.Ile251= NP_387448.2:p.Ile251Leu NP_387448.2:p.Ile251Val
F-box/WD repeat-containing protein 11 isoform A NP_387449.2:p.Ile230= NP_387449.2:p.Ile230Leu NP_387449.2:p.Ile230Val
F-box/WD repeat-containing protein 11 isoform F NP_001365905.1:p.Ile253= NP_001365905.1:p.Ile253Leu NP_001365905.1:p.Ile253Val
F-box/WD repeat-containing protein 11 isoform H NP_001365908.1:p.Ile232= NP_001365908.1:p.Ile232Leu NP_001365908.1:p.Ile232Val
F-box/WD repeat-containing protein 11 isoform G NP_001365906.1:p.Ile232= NP_001365906.1:p.Ile232Leu NP_001365906.1:p.Ile232Val
F-box/WD repeat-containing protein 11 isoform G NP_001365907.1:p.Ile232= NP_001365907.1:p.Ile232Leu NP_001365907.1:p.Ile232Val
F-box/WD repeat-containing protein 11 isoform D NP_001365903.1:p.Ile285= NP_001365903.1:p.Ile285Leu NP_001365903.1:p.Ile285Val
F-box/WD repeat-containing protein 11 isoform E NP_001365904.1:p.Ile262= NP_001365904.1:p.Ile262Leu NP_001365904.1:p.Ile262Val
F-box/WD repeat-containing protein 11 isoform A NP_001365909.1:p.Ile230= NP_001365909.1:p.Ile230Leu NP_001365909.1:p.Ile230Val
F-box/WD repeat-containing protein 11 isoform X1 XP_016864768.1:p.Ile264= XP_016864768.1:p.Ile264Leu XP_016864768.1:p.Ile264Val
F-box/WD repeat-containing protein 11 isoform X2 XP_005265914.1:p.Ile237= XP_005265914.1:p.Ile237Leu XP_005265914.1:p.Ile237Val
F-box/WD repeat-containing protein 11 isoform X3 XP_047272979.1:p.Ile166= XP_047272979.1:p.Ile166Leu XP_047272979.1:p.Ile166Val
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#.

4 SubSNP, 6 Frequency submissions
No Submitter Submission ID Date (Build)
1 EVA_EXAC ss1688086427 Apr 01, 2015 (144)
2 GNOMAD ss2735426562 Nov 08, 2017 (151)
3 GNOMAD ss4134319851 Apr 26, 2021 (155)
4 TOPMED ss4688616405 Apr 26, 2021 (155)
5 ExAC NC_000005.9 - 171305133 Oct 12, 2018 (152)
6 gnomAD - Genomes NC_000005.10 - 171878129 Apr 26, 2021 (155)
7 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 4560932 (NC_000005.9:171305132:T:T 249499/249500, NC_000005.9:171305132:T:A 1/249500)
Row 4560933 (NC_000005.9:171305132:T:T 249499/249500, NC_000005.9:171305132:T:C 1/249500)

- Jul 13, 2019 (153)
8 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 4560932 (NC_000005.9:171305132:T:T 249499/249500, NC_000005.9:171305132:T:A 1/249500)
Row 4560933 (NC_000005.9:171305132:T:T 249499/249500, NC_000005.9:171305132:T:C 1/249500)

- Jul 13, 2019 (153)
9 TopMed NC_000005.10 - 171878129 Apr 26, 2021 (155)
10 ALFA NC_000005.10 - 171878129 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
ss2735426562 NC_000005.9:171305132:T:A NC_000005.10:171878128:T:A (self)
8099411, ss1688086427, ss2735426562 NC_000005.9:171305132:T:C NC_000005.10:171878128:T:C (self)
212673583, 525993962, 11560637649, ss4134319851, ss4688616405 NC_000005.10:171878128:T:C NC_000005.10:171878128:T: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 rs766938293

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.post761+d5e8e07