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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.

rs150858484

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr16:31183886 (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
G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.000008 (2/251492, GnomAD_exome)
T=0.000016 (2/121410, ExAC)
T=0.00000 (0/22802, ALFA) (+ 4 more)
T=0.0002 (1/6404, 1000G_30x)
T=0.0002 (1/5008, 1000G)
G=0.5 (1/2, SGDP_PRJ)
T=0.5 (1/2, SGDP_PRJ)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
FUS : 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 22802 G=1.00000 T=0.00000
European Sub 19492 G=1.00000 T=0.00000
African Sub 0 G=0 T=0
African Others Sub 0 G=0 T=0
African American Sub 0 G=0 T=0
Asian Sub 0 G=0 T=0
East Asian Sub 0 G=0 T=0
Other Asian Sub 0 G=0 T=0
Latin American 1 Sub 0 G=0 T=0
Latin American 2 Sub 0 G=0 T=0
South Asian Sub 0 G=0 T=0
Other Sub 3310 G=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
gnomAD - Exomes Global Study-wide 251492 G=0.999992 T=0.000008
gnomAD - Exomes European Sub 135414 G=0.999985 T=0.000015
gnomAD - Exomes Asian Sub 49010 G=1.00000 T=0.00000
gnomAD - Exomes American Sub 34592 G=1.00000 T=0.00000
gnomAD - Exomes African Sub 16256 G=1.00000 T=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10080 G=1.00000 T=0.00000
gnomAD - Exomes Other Sub 6140 G=1.0000 T=0.0000
ExAC Global Study-wide 121410 G=0.999984 T=0.000016
ExAC Europe Sub 73352 G=0.99997 T=0.00003
ExAC Asian Sub 25166 G=1.00000 T=0.00000
ExAC American Sub 11578 G=1.00000 T=0.00000
ExAC African Sub 10406 G=1.00000 T=0.00000
ExAC Other Sub 908 G=1.000 T=0.000
Allele Frequency Aggregator Total Global 22802 G=1.00000 T=0.00000
Allele Frequency Aggregator European Sub 19492 G=1.00000 T=0.00000
Allele Frequency Aggregator Other Sub 3310 G=1.0000 T=0.0000
Allele Frequency Aggregator Latin American 1 Sub 0 G=0 T=0
Allele Frequency Aggregator Latin American 2 Sub 0 G=0 T=0
Allele Frequency Aggregator South Asian Sub 0 G=0 T=0
Allele Frequency Aggregator African Sub 0 G=0 T=0
Allele Frequency Aggregator Asian Sub 0 G=0 T=0
1000Genomes_30x Global Study-wide 6404 G=0.9998 T=0.0002
1000Genomes_30x African Sub 1786 G=1.0000 T=0.0000
1000Genomes_30x Europe Sub 1266 G=0.9992 T=0.0008
1000Genomes_30x South Asian Sub 1202 G=1.0000 T=0.0000
1000Genomes_30x East Asian Sub 1170 G=1.0000 T=0.0000
1000Genomes_30x American Sub 980 G=1.000 T=0.000
1000Genomes Global Study-wide 5008 G=0.9998 T=0.0002
1000Genomes African Sub 1322 G=1.0000 T=0.0000
1000Genomes East Asian Sub 1008 G=1.0000 T=0.0000
1000Genomes Europe Sub 1006 G=0.9990 T=0.0010
1000Genomes South Asian Sub 978 G=1.000 T=0.000
1000Genomes American Sub 694 G=1.000 T=0.000
SGDP_PRJ Global Study-wide 2 G=0.5 T=0.5
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 16 NC_000016.10:g.31183886G>T
GRCh37.p13 chr 16 NC_000016.9:g.31195207G>T
FUS RefSeqGene (LRG_655) NG_012889.2:g.8755G>T
Gene: FUS, FUS RNA binding protein (plus strand)
Molecule type Change Amino acid[Codon] SO Term
FUS transcript variant 4 NM_001170937.1:c.219G>T Q [CAG] > H [CAT] Coding Sequence Variant
RNA-binding protein FUS isoform 3 NP_001164408.1:p.Gln73His Q (Gln) > H (His) Missense Variant
FUS transcript variant 3 NM_001170634.1:c.216G>T Q [CAG] > H [CAT] Coding Sequence Variant
RNA-binding protein FUS isoform 2 NP_001164105.1:p.Gln72His Q (Gln) > H (His) Missense Variant
FUS transcript variant 1 NM_004960.4:c.219G>T Q [CAG] > H [CAT] Coding Sequence Variant
RNA-binding protein FUS isoform 1 NP_004951.1:p.Gln73His Q (Gln) > H (His) Missense Variant
FUS transcript variant 2 NR_028388.2:n.324G>T N/A Non Coding Transcript Variant
FUS transcript variant X3 XM_011545782.3:c. N/A Genic Upstream Transcript Variant
FUS transcript variant X1 XM_011545781.2:c.219G>T Q [CAG] > H [CAT] Coding Sequence Variant
RNA-binding protein FUS isoform X1 XP_011544083.1:p.Gln73His Q (Gln) > H (His) Missense Variant
FUS transcript variant X2 XM_024450221.2:c.216G>T Q [CAG] > H [CAT] Coding Sequence Variant
RNA-binding protein FUS isoform X2 XP_024305989.1:p.Gln72His Q (Gln) > H (His) 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 G= T
GRCh38.p14 chr 16 NC_000016.10:g.31183886= NC_000016.10:g.31183886G>T
GRCh37.p13 chr 16 NC_000016.9:g.31195207= NC_000016.9:g.31195207G>T
FUS RefSeqGene (LRG_655) NG_012889.2:g.8755= NG_012889.2:g.8755G>T
FUS transcript variant 1 NM_004960.4:c.219= NM_004960.4:c.219G>T
FUS transcript variant 1 NM_004960.3:c.219= NM_004960.3:c.219G>T
FUS transcript variant 2 NR_028388.2:n.324= NR_028388.2:n.324G>T
FUS transcript variant 3 NM_001170634.1:c.216= NM_001170634.1:c.216G>T
FUS transcript variant 4 NM_001170937.1:c.219= NM_001170937.1:c.219G>T
FUS transcript variant X1 XM_011545781.2:c.219= XM_011545781.2:c.219G>T
FUS transcript variant X1 XM_011545781.1:c.219= XM_011545781.1:c.219G>T
FUS transcript variant X2 XM_024450221.2:c.216= XM_024450221.2:c.216G>T
FUS transcript variant X2 XM_024450221.1:c.216= XM_024450221.1:c.216G>T
FUS transcript variant 2 NM_001010850.1:c.219= NM_001010850.1:c.219G>T
RNA-binding protein FUS isoform 1 NP_004951.1:p.Gln73= NP_004951.1:p.Gln73His
RNA-binding protein FUS isoform 2 NP_001164105.1:p.Gln72= NP_001164105.1:p.Gln72His
RNA-binding protein FUS isoform 3 NP_001164408.1:p.Gln73= NP_001164408.1:p.Gln73His
RNA-binding protein FUS isoform X1 XP_011544083.1:p.Gln73= XP_011544083.1:p.Gln73His
RNA-binding protein FUS isoform X2 XP_024305989.1:p.Gln72= XP_024305989.1:p.Gln72His
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#.

11 SubSNP, 6 Frequency submissions
No Submitter Submission ID Date (Build)
1 1000GENOMES ss339215250 May 09, 2011 (134)
2 1000GENOMES ss491101917 May 04, 2012 (137)
3 1000GENOMES ss1355979702 Aug 21, 2014 (142)
4 EVA_EXAC ss1692269673 Apr 01, 2015 (144)
5 GNOMAD ss2741933530 Nov 08, 2017 (151)
6 ILLUMINA ss3625691697 Oct 12, 2018 (152)
7 ILLUMINA ss3744431420 Jul 13, 2019 (153)
8 SGDP_PRJ ss3884288794 Apr 27, 2020 (154)
9 EVA ss5423281158 Oct 16, 2022 (156)
10 1000G_HIGH_COVERAGE ss5603182493 Oct 16, 2022 (156)
11 EVA ss5898851881 Oct 16, 2022 (156)
12 1000Genomes NC_000016.9 - 31195207 Oct 12, 2018 (152)
13 1000Genomes_30x NC_000016.10 - 31183886 Oct 16, 2022 (156)
14 ExAC NC_000016.9 - 31195207 Oct 12, 2018 (152)
15 gnomAD - Exomes NC_000016.9 - 31195207 Jul 13, 2019 (153)
16 SGDP_PRJ NC_000016.9 - 31195207 Apr 27, 2020 (154)
17 ALFA NC_000016.10 - 31183886 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
69134757, 2674785, 11211972, 36305774, ss339215250, ss491101917, ss1355979702, ss1692269673, ss2741933530, ss3625691697, ss3744431420, ss3884288794, ss5423281158 NC_000016.9:31195206:G:T NC_000016.10:31183885:G:T (self)
90708428, 2376867352, ss5603182493, ss5898851881 NC_000016.10:31183885:G:T NC_000016.10:31183885:G: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 rs150858484

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