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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.

rs1461146376

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr9:132198219 (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
A>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.000004 (1/249222, GnomAD_exome)
G=0.00005 (1/21382, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
NTNG2 : 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 21382 A=0.99995 G=0.00005 0.999906 0.0 9.4e-05 0
European Sub 16898 A=0.99994 G=0.00006 0.999882 0.0 0.000118 0
African Sub 20 A=1.00 G=0.00 1.0 0.0 0.0 N/A
African Others Sub 0 A=0 G=0 0 0 0 N/A
African American Sub 20 A=1.00 G=0.00 1.0 0.0 0.0 N/A
Asian Sub 0 A=0 G=0 0 0 0 N/A
East Asian Sub 0 A=0 G=0 0 0 0 N/A
Other Asian Sub 0 A=0 G=0 0 0 0 N/A
Latin American 1 Sub 354 A=1.000 G=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 18 A=1.00 G=0.00 1.0 0.0 0.0 N/A
South Asian Sub 0 A=0 G=0 0 0 0 N/A
Other Sub 4092 A=1.0000 G=0.0000 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 249222 A=0.999996 G=0.000004
gnomAD - Exomes European Sub 133504 A=0.999993 G=0.000007
gnomAD - Exomes Asian Sub 48908 A=1.00000 G=0.00000
gnomAD - Exomes American Sub 34546 A=1.00000 G=0.00000
gnomAD - Exomes African Sub 16096 A=1.00000 G=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10044 A=1.00000 G=0.00000
gnomAD - Exomes Other Sub 6124 A=1.0000 G=0.0000
Allele Frequency Aggregator Total Global 21382 A=0.99995 G=0.00005
Allele Frequency Aggregator European Sub 16898 A=0.99994 G=0.00006
Allele Frequency Aggregator Other Sub 4092 A=1.0000 G=0.0000
Allele Frequency Aggregator Latin American 1 Sub 354 A=1.000 G=0.000
Allele Frequency Aggregator African Sub 20 A=1.00 G=0.00
Allele Frequency Aggregator Latin American 2 Sub 18 A=1.00 G=0.00
Allele Frequency Aggregator South Asian Sub 0 A=0 G=0
Allele Frequency Aggregator Asian Sub 0 A=0 G=0
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 9 NC_000009.12:g.132198219A>G
GRCh37.p13 chr 9 NC_000009.11:g.135073606A>G
Gene: NTNG2, netrin G2 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
NTNG2 transcript NM_032536.4:c.467A>G D [GAC] > G [GGC] Coding Sequence Variant
netrin-G2 precursor NP_115925.2:p.Asp156Gly D (Asp) > G (Gly) Missense Variant
NTNG2 transcript variant X21 XM_011519112.3:c. N/A Genic Upstream Transcript Variant
NTNG2 transcript variant X23 XM_011519113.3:c. N/A Genic Upstream Transcript Variant
NTNG2 transcript variant X1 XM_011519094.3:c.467A>G D [GAC] > G [GGC] Coding Sequence Variant
netrin-G2 isoform X1 XP_011517396.1:p.Asp156Gly D (Asp) > G (Gly) Missense Variant
NTNG2 transcript variant X2 XM_011519099.3:c.467A>G D [GAC] > G [GGC] Coding Sequence Variant
netrin-G2 isoform X1 XP_011517401.1:p.Asp156Gly D (Asp) > G (Gly) Missense Variant
NTNG2 transcript variant X3 XM_017015212.2:c.467A>G D [GAC] > G [GGC] Coding Sequence Variant
netrin-G2 isoform X1 XP_016870701.1:p.Asp156Gly D (Asp) > G (Gly) Missense Variant
NTNG2 transcript variant X4 XM_011519096.3:c.467A>G D [GAC] > G [GGC] Coding Sequence Variant
netrin-G2 isoform X1 XP_011517398.1:p.Asp156Gly D (Asp) > G (Gly) Missense Variant
NTNG2 transcript variant X5 XM_011519100.3:c.467A>G D [GAC] > G [GGC] Coding Sequence Variant
netrin-G2 isoform X1 XP_011517402.1:p.Asp156Gly D (Asp) > G (Gly) Missense Variant
NTNG2 transcript variant X6 XM_011519097.4:c.467A>G D [GAC] > G [GGC] Coding Sequence Variant
netrin-G2 isoform X1 XP_011517399.1:p.Asp156Gly D (Asp) > G (Gly) Missense Variant
NTNG2 transcript variant X7 XM_011519098.3:c.467A>G D [GAC] > G [GGC] Coding Sequence Variant
netrin-G2 isoform X1 XP_011517400.1:p.Asp156Gly D (Asp) > G (Gly) Missense Variant
NTNG2 transcript variant X8 XM_017015213.2:c.467A>G D [GAC] > G [GGC] Coding Sequence Variant
netrin-G2 isoform X1 XP_016870702.1:p.Asp156Gly D (Asp) > G (Gly) Missense Variant
NTNG2 transcript variant X9 XM_047423970.1:c.467A>G D [GAC] > G [GGC] Coding Sequence Variant
netrin-G2 isoform X1 XP_047279926.1:p.Asp156Gly D (Asp) > G (Gly) Missense Variant
NTNG2 transcript variant X10 XM_011519102.3:c.467A>G D [GAC] > G [GGC] Coding Sequence Variant
netrin-G2 isoform X1 XP_011517404.1:p.Asp156Gly D (Asp) > G (Gly) Missense Variant
NTNG2 transcript variant X11 XM_011519103.3:c.467A>G D [GAC] > G [GGC] Coding Sequence Variant
netrin-G2 isoform X1 XP_011517405.1:p.Asp156Gly D (Asp) > G (Gly) Missense Variant
NTNG2 transcript variant X12 XM_011519105.3:c.467A>G D [GAC] > G [GGC] Coding Sequence Variant
netrin-G2 isoform X1 XP_011517407.1:p.Asp156Gly D (Asp) > G (Gly) Missense Variant
NTNG2 transcript variant X13 XM_047423971.1:c.467A>G D [GAC] > G [GGC] Coding Sequence Variant
netrin-G2 isoform X1 XP_047279927.1:p.Asp156Gly D (Asp) > G (Gly) Missense Variant
NTNG2 transcript variant X14 XM_011519104.4:c.467A>G D [GAC] > G [GGC] Coding Sequence Variant
netrin-G2 isoform X1 XP_011517406.1:p.Asp156Gly D (Asp) > G (Gly) Missense Variant
NTNG2 transcript variant X15 XM_011519106.3:c.467A>G D [GAC] > G [GGC] Coding Sequence Variant
netrin-G2 isoform X2 XP_011517408.1:p.Asp156Gly D (Asp) > G (Gly) Missense Variant
NTNG2 transcript variant X16 XM_006717304.4:c.467A>G D [GAC] > G [GGC] Coding Sequence Variant
netrin-G2 isoform X3 XP_006717367.1:p.Asp156Gly D (Asp) > G (Gly) Missense Variant
NTNG2 transcript variant X17 XM_011519107.3:c.467A>G D [GAC] > G [GGC] Coding Sequence Variant
netrin-G2 isoform X4 XP_011517409.1:p.Asp156Gly D (Asp) > G (Gly) Missense Variant
NTNG2 transcript variant X18 XM_011519108.3:c.467A>G D [GAC] > G [GGC] Coding Sequence Variant
netrin-G2 isoform X5 XP_011517410.1:p.Asp156Gly D (Asp) > G (Gly) Missense Variant
NTNG2 transcript variant X19 XM_011519109.3:c.467A>G D [GAC] > G [GGC] Coding Sequence Variant
netrin-G2 isoform X6 XP_011517411.1:p.Asp156Gly D (Asp) > G (Gly) Missense Variant
NTNG2 transcript variant X20 XM_011519110.3:c.467A>G D [GAC] > G [GGC] Coding Sequence Variant
netrin-G2 isoform X7 XP_011517412.1:p.Asp156Gly D (Asp) > G (Gly) Missense Variant
NTNG2 transcript variant X22 XM_017015216.2:c.467A>G D [GAC] > G [GGC] Coding Sequence Variant
netrin-G2 isoform X9 XP_016870705.1:p.Asp156Gly D (Asp) > G (Gly) 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 A= G
GRCh38.p14 chr 9 NC_000009.12:g.132198219= NC_000009.12:g.132198219A>G
GRCh37.p13 chr 9 NC_000009.11:g.135073606= NC_000009.11:g.135073606A>G
NTNG2 transcript variant X6 XM_011519097.4:c.467= XM_011519097.4:c.467A>G
NTNG2 transcript variant X4 XM_011519097.3:c.467= XM_011519097.3:c.467A>G
NTNG2 transcript variant X4 XM_011519097.2:c.467= XM_011519097.2:c.467A>G
NTNG2 transcript variant X4 XM_011519097.1:c.467= XM_011519097.1:c.467A>G
NTNG2 transcript variant X16 XM_006717304.4:c.467= XM_006717304.4:c.467A>G
NTNG2 transcript variant X15 XM_006717304.3:c.467= XM_006717304.3:c.467A>G
NTNG2 transcript variant X14 XM_006717304.2:c.467= XM_006717304.2:c.467A>G
NTNG2 transcript variant X1 XM_006717304.1:c.467= XM_006717304.1:c.467A>G
NTNG2 transcript variant X14 XM_011519104.4:c.467= XM_011519104.4:c.467A>G
NTNG2 transcript variant X12 XM_011519104.3:c.467= XM_011519104.3:c.467A>G
NTNG2 transcript variant X12 XM_011519104.2:c.467= XM_011519104.2:c.467A>G
NTNG2 transcript variant X11 XM_011519104.1:c.467= XM_011519104.1:c.467A>G
NTNG2 transcript NM_032536.4:c.467= NM_032536.4:c.467A>G
NTNG2 transcript NM_032536.3:c.467= NM_032536.3:c.467A>G
NTNG2 transcript NM_032536.2:c.467= NM_032536.2:c.467A>G
NTNG2 transcript variant X1 XM_011519094.3:c.467= XM_011519094.3:c.467A>G
NTNG2 transcript variant X1 XM_011519094.2:c.467= XM_011519094.2:c.467A>G
NTNG2 transcript variant X1 XM_011519094.1:c.467= XM_011519094.1:c.467A>G
NTNG2 transcript variant X7 XM_011519098.3:c.467= XM_011519098.3:c.467A>G
NTNG2 transcript variant X5 XM_011519098.2:c.467= XM_011519098.2:c.467A>G
NTNG2 transcript variant X5 XM_011519098.1:c.467= XM_011519098.1:c.467A>G
NTNG2 transcript variant X15 XM_011519106.3:c.467= XM_011519106.3:c.467A>G
NTNG2 transcript variant X13 XM_011519106.2:c.467= XM_011519106.2:c.467A>G
NTNG2 transcript variant X13 XM_011519106.1:c.467= XM_011519106.1:c.467A>G
NTNG2 transcript variant X10 XM_011519102.3:c.467= XM_011519102.3:c.467A>G
NTNG2 transcript variant X9 XM_011519102.2:c.467= XM_011519102.2:c.467A>G
NTNG2 transcript variant X9 XM_011519102.1:c.467= XM_011519102.1:c.467A>G
NTNG2 transcript variant X2 XM_011519099.3:c.467= XM_011519099.3:c.467A>G
NTNG2 transcript variant X6 XM_011519099.2:c.467= XM_011519099.2:c.467A>G
NTNG2 transcript variant X6 XM_011519099.1:c.467= XM_011519099.1:c.467A>G
NTNG2 transcript variant X4 XM_011519096.3:c.467= XM_011519096.3:c.467A>G
NTNG2 transcript variant X3 XM_011519096.2:c.467= XM_011519096.2:c.467A>G
NTNG2 transcript variant X3 XM_011519096.1:c.467= XM_011519096.1:c.467A>G
NTNG2 transcript variant X5 XM_011519100.3:c.467= XM_011519100.3:c.467A>G
NTNG2 transcript variant X8 XM_011519100.2:c.467= XM_011519100.2:c.467A>G
NTNG2 transcript variant X7 XM_011519100.1:c.467= XM_011519100.1:c.467A>G
NTNG2 transcript variant X12 XM_011519105.3:c.467= XM_011519105.3:c.467A>G
NTNG2 transcript variant X11 XM_011519105.2:c.467= XM_011519105.2:c.467A>G
NTNG2 transcript variant X12 XM_011519105.1:c.467= XM_011519105.1:c.467A>G
NTNG2 transcript variant X17 XM_011519107.3:c.467= XM_011519107.3:c.467A>G
NTNG2 transcript variant X16 XM_011519107.2:c.467= XM_011519107.2:c.467A>G
NTNG2 transcript variant X15 XM_011519107.1:c.467= XM_011519107.1:c.467A>G
NTNG2 transcript variant X11 XM_011519103.3:c.467= XM_011519103.3:c.467A>G
NTNG2 transcript variant X10 XM_011519103.2:c.467= XM_011519103.2:c.467A>G
NTNG2 transcript variant X10 XM_011519103.1:c.467= XM_011519103.1:c.467A>G
NTNG2 transcript variant X18 XM_011519108.3:c.467= XM_011519108.3:c.467A>G
NTNG2 transcript variant X17 XM_011519108.2:c.467= XM_011519108.2:c.467A>G
NTNG2 transcript variant X16 XM_011519108.1:c.467= XM_011519108.1:c.467A>G
NTNG2 transcript variant X19 XM_011519109.3:c.467= XM_011519109.3:c.467A>G
NTNG2 transcript variant X19 XM_011519109.2:c.467= XM_011519109.2:c.467A>G
NTNG2 transcript variant X17 XM_011519109.1:c.467= XM_011519109.1:c.467A>G
NTNG2 transcript variant X20 XM_011519110.3:c.467= XM_011519110.3:c.467A>G
NTNG2 transcript variant X20 XM_011519110.2:c.467= XM_011519110.2:c.467A>G
NTNG2 transcript variant X18 XM_011519110.1:c.467= XM_011519110.1:c.467A>G
NTNG2 transcript variant X3 XM_017015212.2:c.467= XM_017015212.2:c.467A>G
NTNG2 transcript variant X2 XM_017015212.1:c.467= XM_017015212.1:c.467A>G
NTNG2 transcript variant X8 XM_017015213.2:c.467= XM_017015213.2:c.467A>G
NTNG2 transcript variant X7 XM_017015213.1:c.467= XM_017015213.1:c.467A>G
NTNG2 transcript variant X22 XM_017015216.2:c.467= XM_017015216.2:c.467A>G
NTNG2 transcript variant X22 XM_017015216.1:c.467= XM_017015216.1:c.467A>G
NTNG2 transcript variant X13 XM_047423971.1:c.467= XM_047423971.1:c.467A>G
NTNG2 transcript variant X9 XM_047423970.1:c.467= XM_047423970.1:c.467A>G
netrin-G2 isoform X1 XP_011517399.1:p.Asp156= XP_011517399.1:p.Asp156Gly
netrin-G2 isoform X3 XP_006717367.1:p.Asp156= XP_006717367.1:p.Asp156Gly
netrin-G2 isoform X1 XP_011517406.1:p.Asp156= XP_011517406.1:p.Asp156Gly
netrin-G2 precursor NP_115925.2:p.Asp156= NP_115925.2:p.Asp156Gly
netrin-G2 isoform X1 XP_011517396.1:p.Asp156= XP_011517396.1:p.Asp156Gly
netrin-G2 isoform X1 XP_011517400.1:p.Asp156= XP_011517400.1:p.Asp156Gly
netrin-G2 isoform X2 XP_011517408.1:p.Asp156= XP_011517408.1:p.Asp156Gly
netrin-G2 isoform X1 XP_011517404.1:p.Asp156= XP_011517404.1:p.Asp156Gly
netrin-G2 isoform X1 XP_011517401.1:p.Asp156= XP_011517401.1:p.Asp156Gly
netrin-G2 isoform X1 XP_011517398.1:p.Asp156= XP_011517398.1:p.Asp156Gly
netrin-G2 isoform X1 XP_011517402.1:p.Asp156= XP_011517402.1:p.Asp156Gly
netrin-G2 isoform X1 XP_011517407.1:p.Asp156= XP_011517407.1:p.Asp156Gly
netrin-G2 isoform X4 XP_011517409.1:p.Asp156= XP_011517409.1:p.Asp156Gly
netrin-G2 isoform X1 XP_011517405.1:p.Asp156= XP_011517405.1:p.Asp156Gly
netrin-G2 isoform X5 XP_011517410.1:p.Asp156= XP_011517410.1:p.Asp156Gly
netrin-G2 isoform X6 XP_011517411.1:p.Asp156= XP_011517411.1:p.Asp156Gly
netrin-G2 isoform X7 XP_011517412.1:p.Asp156= XP_011517412.1:p.Asp156Gly
netrin-G2 isoform X1 XP_016870701.1:p.Asp156= XP_016870701.1:p.Asp156Gly
netrin-G2 isoform X1 XP_016870702.1:p.Asp156= XP_016870702.1:p.Asp156Gly
netrin-G2 isoform X9 XP_016870705.1:p.Asp156= XP_016870705.1:p.Asp156Gly
netrin-G2 isoform X1 XP_047279927.1:p.Asp156= XP_047279927.1:p.Asp156Gly
netrin-G2 isoform X1 XP_047279926.1:p.Asp156= XP_047279926.1:p.Asp156Gly
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#.

1 SubSNP, 2 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2737953170 Nov 08, 2017 (151)
2 gnomAD - Exomes NC_000009.11 - 135073606 Jul 13, 2019 (153)
3 ALFA NC_000009.12 - 132198219 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
7142413, ss2737953170 NC_000009.11:135073605:A:G NC_000009.12:132198218:A:G (self)
8744200342 NC_000009.12:132198218:A:G NC_000009.12:132198218:A: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 rs1461146376

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