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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.

rs758138299

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr2:152611605 (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>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.000038 (10/264690, TOPMED)
T=0.000018 (4/218742, GnomAD_exome)
T=0.000029 (4/140264, GnomAD) (+ 3 more)
T=0.000010 (1/103988, ALFA)
T=0.00005 (4/78694, PAGE_STUDY)
T=0.00002 (1/53280, ExAC)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
FMNL2 : Synonymous 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 120344 C=0.999975 T=0.000025
European Sub 102872 C=0.999990 T=0.000010
African Sub 9026 C=0.9998 T=0.0002
African Others Sub 352 C=1.000 T=0.000
African American Sub 8674 C=0.9998 T=0.0002
Asian Sub 3306 C=1.0000 T=0.0000
East Asian Sub 2680 C=1.0000 T=0.0000
Other Asian Sub 626 C=1.000 T=0.000
Latin American 1 Sub 436 C=1.000 T=0.000
Latin American 2 Sub 928 C=1.000 T=0.000
South Asian Sub 280 C=1.000 T=0.000
Other Sub 3496 C=1.0000 T=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 C=0.999962 T=0.000038
gnomAD - Exomes Global Study-wide 218742 C=0.999982 T=0.000018
gnomAD - Exomes European Sub 115988 C=0.999991 T=0.000009
gnomAD - Exomes Asian Sub 43126 C=0.99998 T=0.00002
gnomAD - Exomes American Sub 31090 C=1.00000 T=0.00000
gnomAD - Exomes African Sub 13598 C=0.99985 T=0.00015
gnomAD - Exomes Ashkenazi Jewish Sub 9474 C=1.0000 T=0.0000
gnomAD - Exomes Other Sub 5466 C=1.0000 T=0.0000
gnomAD - Genomes Global Study-wide 140264 C=0.999971 T=0.000029
gnomAD - Genomes European Sub 75950 C=1.00000 T=0.00000
gnomAD - Genomes African Sub 42044 C=0.99990 T=0.00010
gnomAD - Genomes American Sub 13660 C=1.00000 T=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3322 C=1.0000 T=0.0000
gnomAD - Genomes East Asian Sub 3134 C=1.0000 T=0.0000
gnomAD - Genomes Other Sub 2154 C=1.0000 T=0.0000
Allele Frequency Aggregator Total Global 103988 C=0.999990 T=0.000010
Allele Frequency Aggregator European Sub 92788 C=0.99999 T=0.00001
Allele Frequency Aggregator African Sub 4188 C=1.0000 T=0.0000
Allele Frequency Aggregator Asian Sub 3306 C=1.0000 T=0.0000
Allele Frequency Aggregator Other Sub 2062 C=1.0000 T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 928 C=1.000 T=0.000
Allele Frequency Aggregator Latin American 1 Sub 436 C=1.000 T=0.000
Allele Frequency Aggregator South Asian Sub 280 C=1.000 T=0.000
The PAGE Study Global Study-wide 78694 C=0.99995 T=0.00005
The PAGE Study AfricanAmerican Sub 32516 C=0.99988 T=0.00012
The PAGE Study Mexican Sub 10810 C=1.00000 T=0.00000
The PAGE Study Asian Sub 8318 C=1.0000 T=0.0000
The PAGE Study PuertoRican Sub 7918 C=1.0000 T=0.0000
The PAGE Study NativeHawaiian Sub 4532 C=1.0000 T=0.0000
The PAGE Study Cuban Sub 4230 C=1.0000 T=0.0000
The PAGE Study Dominican Sub 3824 C=1.0000 T=0.0000
The PAGE Study CentralAmerican Sub 2448 C=1.0000 T=0.0000
The PAGE Study SouthAmerican Sub 1982 C=1.0000 T=0.0000
The PAGE Study NativeAmerican Sub 1260 C=1.0000 T=0.0000
The PAGE Study SouthAsian Sub 856 C=1.000 T=0.000
ExAC Global Study-wide 53280 C=0.99998 T=0.00002
ExAC Europe Sub 31448 C=1.00000 T=0.00000
ExAC Asian Sub 13230 C=1.00000 T=0.00000
ExAC African Sub 5230 C=0.9998 T=0.0002
ExAC American Sub 2922 C=1.0000 T=0.0000
ExAC Other Sub 450 C=1.000 T=0.000
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.152611605C>T
GRCh37.p13 chr 2 NC_000002.11:g.153468119C>T
Gene: FMNL2, formin like 2 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
FMNL2 transcript NM_052905.4:c.1062C>T D [GAC] > D [GAT] Coding Sequence Variant
formin-like protein 2 NP_443137.2:p.Asp354= D (Asp) > D (Asp) Synonymous Variant
FMNL2 transcript variant X1 XM_011510530.2:c.1062C>T D [GAC] > D [GAT] Coding Sequence Variant
formin-like protein 2 isoform X1 XP_011508832.1:p.Asp354= D (Asp) > D (Asp) Synonymous Variant
FMNL2 transcript variant X2 XM_011510531.2:c.1062C>T D [GAC] > D [GAT] Coding Sequence Variant
formin-like protein 2 isoform X2 XP_011508833.1:p.Asp354= D (Asp) > D (Asp) Synonymous Variant
FMNL2 transcript variant X3 XM_011510533.4:c.1062C>T D [GAC] > D [GAT] Coding Sequence Variant
formin-like protein 2 isoform X3 XP_011508835.1:p.Asp354= D (Asp) > D (Asp) Synonymous Variant
FMNL2 transcript variant X4 XM_005246263.3:c.1062C>T D [GAC] > D [GAT] Coding Sequence Variant
formin-like protein 2 isoform X4 XP_005246320.1:p.Asp354= D (Asp) > D (Asp) Synonymous Variant
FMNL2 transcript variant X5 XM_005246265.4:c.1062C>T D [GAC] > D [GAT] Coding Sequence Variant
formin-like protein 2 isoform X5 XP_005246322.1:p.Asp354= D (Asp) > D (Asp) Synonymous Variant
FMNL2 transcript variant X6 XM_011510534.2:c.1062C>T D [GAC] > D [GAT] Coding Sequence Variant
formin-like protein 2 isoform X6 XP_011508836.1:p.Asp354= D (Asp) > D (Asp) Synonymous Variant
FMNL2 transcript variant X7 XM_047443111.1:c.1062C>T D [GAC] > D [GAT] Coding Sequence Variant
formin-like protein 2 isoform X7 XP_047299067.1:p.Asp354= D (Asp) > D (Asp) Synonymous Variant
FMNL2 transcript variant X8 XM_047443112.1:c.1062C>T D [GAC] > D [GAT] Coding Sequence Variant
formin-like protein 2 isoform X8 XP_047299068.1:p.Asp354= D (Asp) > D (Asp) Synonymous Variant
FMNL2 transcript variant X9 XM_011510535.3:c.909C>T D [GAC] > D [GAT] Coding Sequence Variant
formin-like protein 2 isoform X9 XP_011508837.1:p.Asp303= D (Asp) > D (Asp) Synonymous Variant
FMNL2 transcript variant X10 XM_047443113.1:c.909C>T D [GAC] > D [GAT] Coding Sequence Variant
formin-like protein 2 isoform X10 XP_047299069.1:p.Asp303= D (Asp) > D (Asp) Synonymous Variant
FMNL2 transcript variant X11 XM_047443114.1:c.909C>T D [GAC] > D [GAT] Coding Sequence Variant
formin-like protein 2 isoform X11 XP_047299070.1:p.Asp303= D (Asp) > D (Asp) Synonymous Variant
FMNL2 transcript variant X12 XM_011510536.4:c.345C>T D [GAC] > D [GAT] Coding Sequence Variant
formin-like protein 2 isoform X12 XP_011508838.1:p.Asp115= D (Asp) > D (Asp) Synonymous Variant
FMNL2 transcript variant X13 XR_241279.5:n.1492C>T 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= T
GRCh38.p14 chr 2 NC_000002.12:g.152611605= NC_000002.12:g.152611605C>T
GRCh37.p13 chr 2 NC_000002.11:g.153468119= NC_000002.11:g.153468119C>T
FMNL2 transcript variant X13 XR_241279.5:n.1492= XR_241279.5:n.1492C>T
FMNL2 transcript variant X10 XR_241279.4:n.1496= XR_241279.4:n.1496C>T
FMNL2 transcript variant X10 XR_241279.3:n.1496= XR_241279.3:n.1496C>T
FMNL2 transcript variant X10 XR_241279.2:n.1496= XR_241279.2:n.1496C>T
FMNL2 transcript variant X5 XR_241279.1:n.1496= XR_241279.1:n.1496C>T
FMNL2 transcript variant X3 XM_011510533.4:c.1062= XM_011510533.4:c.1062C>T
FMNL2 transcript variant X4 XM_011510533.3:c.1062= XM_011510533.3:c.1062C>T
FMNL2 transcript variant X4 XM_011510533.2:c.1062= XM_011510533.2:c.1062C>T
FMNL2 transcript variant X4 XM_011510533.1:c.1062= XM_011510533.1:c.1062C>T
FMNL2 transcript variant X5 XM_005246265.4:c.1062= XM_005246265.4:c.1062C>T
FMNL2 transcript variant X6 XM_005246265.3:c.1062= XM_005246265.3:c.1062C>T
FMNL2 transcript variant X6 XM_005246265.2:c.1062= XM_005246265.2:c.1062C>T
FMNL2 transcript variant X3 XM_005246265.1:c.1062= XM_005246265.1:c.1062C>T
FMNL2 transcript NM_052905.4:c.1062= NM_052905.4:c.1062C>T
FMNL2 transcript NM_052905.3:c.1062= NM_052905.3:c.1062C>T
FMNL2 transcript variant X12 XM_011510536.4:c.345= XM_011510536.4:c.345C>T
FMNL2 transcript variant X9 XM_011510536.3:c.345= XM_011510536.3:c.345C>T
FMNL2 transcript variant X9 XM_011510536.2:c.345= XM_011510536.2:c.345C>T
FMNL2 transcript variant X9 XM_011510536.1:c.345= XM_011510536.1:c.345C>T
FMNL2 transcript variant X4 XM_005246263.3:c.1062= XM_005246263.3:c.1062C>T
FMNL2 transcript variant X5 XM_005246263.2:c.1062= XM_005246263.2:c.1062C>T
FMNL2 transcript variant X1 XM_005246263.1:c.1062= XM_005246263.1:c.1062C>T
FMNL2 transcript variant X9 XM_011510535.3:c.909= XM_011510535.3:c.909C>T
FMNL2 transcript variant X8 XM_011510535.2:c.909= XM_011510535.2:c.909C>T
FMNL2 transcript variant X8 XM_011510535.1:c.909= XM_011510535.1:c.909C>T
FMNL2 transcript variant X2 XM_011510531.2:c.1062= XM_011510531.2:c.1062C>T
FMNL2 transcript variant X2 XM_011510531.1:c.1062= XM_011510531.1:c.1062C>T
FMNL2 transcript variant X1 XM_011510530.2:c.1062= XM_011510530.2:c.1062C>T
FMNL2 transcript variant X1 XM_011510530.1:c.1062= XM_011510530.1:c.1062C>T
FMNL2 transcript variant X6 XM_011510534.2:c.1062= XM_011510534.2:c.1062C>T
FMNL2 transcript variant X7 XM_011510534.1:c.1062= XM_011510534.1:c.1062C>T
FMNL2 transcript variant 1 NM_001004421.1:c.1062= NM_001004421.1:c.1062C>T
FMNL2 transcript variant 4 NM_001004417.1:c.1062= NM_001004417.1:c.1062C>T
FMNL2 transcript variant X7 XM_047443111.1:c.1062= XM_047443111.1:c.1062C>T
FMNL2 transcript variant 3 NM_001004422.1:c.1062= NM_001004422.1:c.1062C>T
FMNL2 transcript variant X8 XM_047443112.1:c.1062= XM_047443112.1:c.1062C>T
FMNL2 transcript variant X10 XM_047443113.1:c.909= XM_047443113.1:c.909C>T
FMNL2 transcript variant X11 XM_047443114.1:c.909= XM_047443114.1:c.909C>T
formin-like protein 2 isoform X3 XP_011508835.1:p.Asp354= XP_011508835.1:p.Asp354=
formin-like protein 2 isoform X5 XP_005246322.1:p.Asp354= XP_005246322.1:p.Asp354=
formin-like protein 2 NP_443137.2:p.Asp354= NP_443137.2:p.Asp354=
formin-like protein 2 isoform X12 XP_011508838.1:p.Asp115= XP_011508838.1:p.Asp115=
formin-like protein 2 isoform X4 XP_005246320.1:p.Asp354= XP_005246320.1:p.Asp354=
formin-like protein 2 isoform X9 XP_011508837.1:p.Asp303= XP_011508837.1:p.Asp303=
formin-like protein 2 isoform X2 XP_011508833.1:p.Asp354= XP_011508833.1:p.Asp354=
formin-like protein 2 isoform X1 XP_011508832.1:p.Asp354= XP_011508832.1:p.Asp354=
formin-like protein 2 isoform X6 XP_011508836.1:p.Asp354= XP_011508836.1:p.Asp354=
formin-like protein 2 isoform X7 XP_047299067.1:p.Asp354= XP_047299067.1:p.Asp354=
formin-like protein 2 isoform X8 XP_047299068.1:p.Asp354= XP_047299068.1:p.Asp354=
formin-like protein 2 isoform X10 XP_047299069.1:p.Asp303= XP_047299069.1:p.Asp303=
formin-like protein 2 isoform X11 XP_047299070.1:p.Asp303= XP_047299070.1:p.Asp303=
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#.

20 SubSNP, 6 Frequency submissions
No Submitter Submission ID Date (Build)
1 EVA_EXAC ss1686547835 Apr 01, 2015 (144)
2 ILLUMINA ss1946055002 Feb 12, 2016 (147)
3 ILLUMINA ss1958469167 Feb 12, 2016 (147)
4 HUMAN_LONGEVITY ss2235513079 Dec 20, 2016 (150)
5 GNOMAD ss2733038608 Nov 08, 2017 (151)
6 GNOMAD ss2746795111 Nov 08, 2017 (151)
7 GNOMAD ss2781352371 Nov 08, 2017 (151)
8 AFFY ss2985187870 Nov 08, 2017 (151)
9 ILLUMINA ss3022029131 Nov 08, 2017 (151)
10 ILLUMINA ss3625768005 Oct 11, 2018 (152)
11 ILLUMINA ss3644757661 Oct 11, 2018 (152)
12 ILLUMINA ss3652470424 Oct 11, 2018 (152)
13 ILLUMINA ss3653955130 Oct 11, 2018 (152)
14 ILLUMINA ss3725835154 Jul 13, 2019 (153)
15 ILLUMINA ss3744184502 Jul 13, 2019 (153)
16 PAGE_CC ss3770956987 Jul 13, 2019 (153)
17 TOPMED ss4529202680 Apr 26, 2021 (155)
18 EVA ss5333292079 Oct 12, 2022 (156)
19 EVA ss5847887156 Oct 12, 2022 (156)
20 EVA ss5956315936 Oct 12, 2022 (156)
21 ExAC NC_000002.11 - 153468119 Oct 11, 2018 (152)
22 gnomAD - Genomes NC_000002.12 - 152611605 Apr 26, 2021 (155)
23 gnomAD - Exomes NC_000002.11 - 153468119 Jul 13, 2019 (153)
24 The PAGE Study NC_000002.12 - 152611605 Jul 13, 2019 (153)
25 TopMed NC_000002.12 - 152611605 Apr 26, 2021 (155)
26 ALFA NC_000002.12 - 152611605 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
6437360, 2096093, ss1686547835, ss1946055002, ss1958469167, ss2733038608, ss2746795111, ss2781352371, ss2985187870, ss3022029131, ss3625768005, ss3644757661, ss3652470424, ss3653955130, ss3744184502, ss5333292079, ss5847887156, ss5956315936 NC_000002.11:153468118:C:T NC_000002.12:152611604:C:T (self)
78112708, 178456, 333025559, 7904418995, ss2235513079, ss3725835154, ss3770956987, ss4529202680 NC_000002.12:152611604:C:T NC_000002.12:152611604:C:T (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 rs758138299

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