Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

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.

rs1461520374

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr16:89964251 (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>A
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.000004 (1/264690, TOPMED)
A=0.00000 (0/11862, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
DEF8 : 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 11862 G=1.00000 A=0.00000 1.0 0.0 0.0 N/A
European Sub 7618 G=1.0000 A=0.0000 1.0 0.0 0.0 N/A
African Sub 2816 G=1.0000 A=0.0000 1.0 0.0 0.0 N/A
African Others Sub 108 G=1.000 A=0.000 1.0 0.0 0.0 N/A
African American Sub 2708 G=1.0000 A=0.0000 1.0 0.0 0.0 N/A
Asian Sub 108 G=1.000 A=0.000 1.0 0.0 0.0 N/A
East Asian Sub 84 G=1.00 A=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 24 G=1.00 A=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 G=1.000 A=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 G=1.000 A=0.000 1.0 0.0 0.0 N/A
South Asian Sub 94 G=1.00 A=0.00 1.0 0.0 0.0 N/A
Other Sub 470 G=1.000 A=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
TopMed Global Study-wide 264690 G=0.999996 A=0.000004
Allele Frequency Aggregator Total Global 11862 G=1.00000 A=0.00000
Allele Frequency Aggregator European Sub 7618 G=1.0000 A=0.0000
Allele Frequency Aggregator African Sub 2816 G=1.0000 A=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 G=1.000 A=0.000
Allele Frequency Aggregator Other Sub 470 G=1.000 A=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 G=1.000 A=0.000
Allele Frequency Aggregator Asian Sub 108 G=1.000 A=0.000
Allele Frequency Aggregator South Asian Sub 94 G=1.00 A=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 16 NC_000016.10:g.89964251G>A
GRCh37.p13 chr 16 NC_000016.9:g.90030659G>A
Gene: DEF8, differentially expressed in FDCP 8 homolog (plus strand)
Molecule type Change Amino acid[Codon] SO Term
DEF8 transcript variant 8 NM_001242821.2:c. N/A Genic Downstream Transcript Variant
DEF8 transcript variant 9 NM_001242822.2:c. N/A Genic Downstream Transcript Variant
DEF8 transcript variant 2 NM_017702.4:c. N/A Genic Downstream Transcript Variant
DEF8 transcript variant 6 NM_001242819.1:c.1033G>A G [GGC] > S [AGC] Coding Sequence Variant
differentially expressed in FDCP 8 homolog isoform 6 NP_001229748.1:p.Gly345Ser G (Gly) > S (Ser) Missense Variant
DEF8 transcript variant 1 NM_207514.3:c.1267G>A G [GGC] > S [AGC] Coding Sequence Variant
differentially expressed in FDCP 8 homolog isoform 1 NP_997397.1:p.Gly423Ser G (Gly) > S (Ser) Missense Variant
DEF8 transcript variant 4 NM_001242817.2:c.904G>A G [GGC] > S [AGC] Coding Sequence Variant
differentially expressed in FDCP 8 homolog isoform 4 NP_001229746.1:p.Gly302Ser G (Gly) > S (Ser) Missense Variant
DEF8 transcript variant 5 NM_001242818.2:c.1084G>A G [GGC] > S [AGC] Coding Sequence Variant
differentially expressed in FDCP 8 homolog isoform 5 NP_001229747.1:p.Gly362Ser G (Gly) > S (Ser) Missense Variant
DEF8 transcript variant 3 NM_001242816.2:c.1054G>A G [GGC] > S [AGC] Coding Sequence Variant
differentially expressed in FDCP 8 homolog isoform 3 NP_001229745.1:p.Gly352Ser G (Gly) > S (Ser) Missense Variant
DEF8 transcript variant 7 NM_001242820.2:c.1084G>A G [GGC] > S [AGC] Coding Sequence Variant
differentially expressed in FDCP 8 homolog isoform 5 NP_001229749.1:p.Gly362Ser G (Gly) > S (Ser) Missense Variant
DEF8 transcript variant X1 XM_011523156.4:c. N/A Genic Downstream Transcript Variant
DEF8 transcript variant X2 XM_011523157.4:c. N/A Genic Downstream Transcript Variant
DEF8 transcript variant X8 XM_011523159.4:c. N/A Genic Downstream Transcript Variant
DEF8 transcript variant X9 XM_011523160.4:c. N/A Genic Downstream Transcript Variant
DEF8 transcript variant X10 XM_011523161.4:c. N/A Genic Downstream Transcript Variant
DEF8 transcript variant X17 XM_011523162.4:c. N/A Genic Downstream Transcript Variant
DEF8 transcript variant X18 XM_017023366.3:c. N/A Genic Downstream Transcript Variant
DEF8 transcript variant X3 XM_017023358.3:c.1084G>A G [GGC] > S [AGC] Coding Sequence Variant
differentially expressed in FDCP 8 homolog isoform X2 XP_016878847.1:p.Gly362Ser G (Gly) > S (Ser) Missense Variant
DEF8 transcript variant X4 XM_011523158.3:c.1078G>A G [GGC] > S [AGC] Coding Sequence Variant
differentially expressed in FDCP 8 homolog isoform X3 XP_011521460.1:p.Gly360Ser G (Gly) > S (Ser) Missense Variant
DEF8 transcript variant X5 XM_017023359.3:c.1078G>A G [GGC] > S [AGC] Coding Sequence Variant
differentially expressed in FDCP 8 homolog isoform X3 XP_016878848.1:p.Gly360Ser G (Gly) > S (Ser) Missense Variant
DEF8 transcript variant X6 XM_005256318.4:c.1033G>A G [GGC] > S [AGC] Coding Sequence Variant
differentially expressed in FDCP 8 homolog isoform X4 XP_005256375.2:p.Gly345Ser G (Gly) > S (Ser) Missense Variant
DEF8 transcript variant X7 XM_017023360.3:c.1033G>A G [GGC] > S [AGC] Coding Sequence Variant
differentially expressed in FDCP 8 homolog isoform X4 XP_016878849.1:p.Gly345Ser G (Gly) > S (Ser) Missense Variant
DEF8 transcript variant X11 XM_017023361.3:c.1186G>A G [GGC] > S [AGC] Coding Sequence Variant
differentially expressed in FDCP 8 homolog isoform X7 XP_016878850.1:p.Gly396Ser G (Gly) > S (Ser) Missense Variant
DEF8 transcript variant X12 XM_017023362.3:c.1180G>A G [GGC] > S [AGC] Coding Sequence Variant
differentially expressed in FDCP 8 homolog isoform X8 XP_016878851.1:p.Gly394Ser G (Gly) > S (Ser) Missense Variant
DEF8 transcript variant X13 XM_017023363.2:c.1267G>A G [GGC] > S [AGC] Coding Sequence Variant
differentially expressed in FDCP 8 homolog isoform X9 XP_016878852.1:p.Gly423Ser G (Gly) > S (Ser) Missense Variant
DEF8 transcript variant X14 XM_017023364.3:c.1135G>A G [GGC] > S [AGC] Coding Sequence Variant
differentially expressed in FDCP 8 homolog isoform X10 XP_016878853.1:p.Gly379Ser G (Gly) > S (Ser) Missense Variant
DEF8 transcript variant X15 XM_017023365.2:c.1216G>A G [GGC] > S [AGC] Coding Sequence Variant
differentially expressed in FDCP 8 homolog isoform X11 XP_016878854.1:p.Gly406Ser G (Gly) > S (Ser) Missense Variant
DEF8 transcript variant X16 XM_047434272.1:c.1216G>A G [GGC] > S [AGC] Coding Sequence Variant
differentially expressed in FDCP 8 homolog isoform X11 XP_047290228.1:p.Gly406Ser G (Gly) > S (Ser) Missense Variant
DEF8 transcript variant X19 XM_017023367.3:c.1084G>A G [GGC] > S [AGC] Coding Sequence Variant
differentially expressed in FDCP 8 homolog isoform X2 XP_016878856.1:p.Gly362Ser G (Gly) > S (Ser) Missense Variant
DEF8 transcript variant X20 XM_047434273.1:c.1078G>A G [GGC] > S [AGC] Coding Sequence Variant
differentially expressed in FDCP 8 homolog isoform X3 XP_047290229.1:p.Gly360Ser G (Gly) > S (Ser) Missense Variant
DEF8 transcript variant X21 XM_017023369.3:c.1033G>A G [GGC] > S [AGC] Coding Sequence Variant
differentially expressed in FDCP 8 homolog isoform X4 XP_016878858.1:p.Gly345Ser G (Gly) > S (Ser) 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= A
GRCh38.p14 chr 16 NC_000016.10:g.89964251= NC_000016.10:g.89964251G>A
GRCh37.p13 chr 16 NC_000016.9:g.90030659= NC_000016.9:g.90030659G>A
DEF8 transcript variant X6 XM_005256318.4:c.1033= XM_005256318.4:c.1033G>A
DEF8 transcript variant X6 XM_005256318.3:c.1033= XM_005256318.3:c.1033G>A
DEF8 transcript variant X6 XM_005256318.2:c.1033= XM_005256318.2:c.1033G>A
DEF8 transcript variant X3 XM_005256318.1:c.1342= XM_005256318.1:c.1342G>A
DEF8 transcript variant 1 NM_207514.3:c.1267= NM_207514.3:c.1267G>A
DEF8 transcript variant 1 NM_207514.2:c.1267= NM_207514.2:c.1267G>A
DEF8 transcript variant X3 XM_017023358.3:c.1084= XM_017023358.3:c.1084G>A
DEF8 transcript variant X3 XM_017023358.2:c.1084= XM_017023358.2:c.1084G>A
DEF8 transcript variant X3 XM_017023358.1:c.1084= XM_017023358.1:c.1084G>A
DEF8 transcript variant X4 XM_011523158.3:c.1078= XM_011523158.3:c.1078G>A
DEF8 transcript variant X4 XM_011523158.2:c.1078= XM_011523158.2:c.1078G>A
DEF8 transcript variant X4 XM_011523158.1:c.1078= XM_011523158.1:c.1078G>A
DEF8 transcript variant X5 XM_017023359.3:c.1078= XM_017023359.3:c.1078G>A
DEF8 transcript variant X5 XM_017023359.2:c.1078= XM_017023359.2:c.1078G>A
DEF8 transcript variant X5 XM_017023359.1:c.1078= XM_017023359.1:c.1078G>A
DEF8 transcript variant X11 XM_017023361.3:c.1186= XM_017023361.3:c.1186G>A
DEF8 transcript variant X11 XM_017023361.2:c.1186= XM_017023361.2:c.1186G>A
DEF8 transcript variant X11 XM_017023361.1:c.1186= XM_017023361.1:c.1186G>A
DEF8 transcript variant X12 XM_017023362.3:c.1180= XM_017023362.3:c.1180G>A
DEF8 transcript variant X12 XM_017023362.2:c.1180= XM_017023362.2:c.1180G>A
DEF8 transcript variant X12 XM_017023362.1:c.1180= XM_017023362.1:c.1180G>A
DEF8 transcript variant X7 XM_017023360.3:c.1033= XM_017023360.3:c.1033G>A
DEF8 transcript variant X7 XM_017023360.2:c.1033= XM_017023360.2:c.1033G>A
DEF8 transcript variant X7 XM_017023360.1:c.1033= XM_017023360.1:c.1033G>A
DEF8 transcript variant X14 XM_017023364.3:c.1135= XM_017023364.3:c.1135G>A
DEF8 transcript variant X14 XM_017023364.2:c.1135= XM_017023364.2:c.1135G>A
DEF8 transcript variant X14 XM_017023364.1:c.1135= XM_017023364.1:c.1135G>A
DEF8 transcript variant X19 XM_017023367.3:c.1084= XM_017023367.3:c.1084G>A
DEF8 transcript variant X18 XM_017023367.2:c.1084= XM_017023367.2:c.1084G>A
DEF8 transcript variant X18 XM_017023367.1:c.1084= XM_017023367.1:c.1084G>A
DEF8 transcript variant X21 XM_017023369.3:c.1033= XM_017023369.3:c.1033G>A
DEF8 transcript variant X20 XM_017023369.2:c.1033= XM_017023369.2:c.1033G>A
DEF8 transcript variant X20 XM_017023369.1:c.1033= XM_017023369.1:c.1033G>A
DEF8 transcript variant 7 NM_001242820.2:c.1084= NM_001242820.2:c.1084G>A
DEF8 transcript variant 7 NM_001242820.1:c.1084= NM_001242820.1:c.1084G>A
DEF8 transcript variant X13 XM_017023363.2:c.1267= XM_017023363.2:c.1267G>A
DEF8 transcript variant X13 XM_017023363.1:c.1267= XM_017023363.1:c.1267G>A
DEF8 transcript variant X15 XM_017023365.2:c.1216= XM_017023365.2:c.1216G>A
DEF8 transcript variant X15 XM_017023365.1:c.1216= XM_017023365.1:c.1216G>A
DEF8 transcript variant 5 NM_001242818.2:c.1084= NM_001242818.2:c.1084G>A
DEF8 transcript variant 5 NM_001242818.1:c.1084= NM_001242818.1:c.1084G>A
DEF8 transcript variant 3 NM_001242816.2:c.1054= NM_001242816.2:c.1054G>A
DEF8 transcript variant 3 NM_001242816.1:c.1054= NM_001242816.1:c.1054G>A
DEF8 transcript variant 4 NM_001242817.2:c.904= NM_001242817.2:c.904G>A
DEF8 transcript variant 4 NM_001242817.1:c.904= NM_001242817.1:c.904G>A
DEF8 transcript variant X16 XM_047434272.1:c.1216= XM_047434272.1:c.1216G>A
DEF8 transcript variant X20 XM_047434273.1:c.1078= XM_047434273.1:c.1078G>A
DEF8 transcript variant 6 NM_001242819.1:c.1033= NM_001242819.1:c.1033G>A
differentially expressed in FDCP 8 homolog isoform X4 XP_005256375.2:p.Gly345= XP_005256375.2:p.Gly345Ser
differentially expressed in FDCP 8 homolog isoform 1 NP_997397.1:p.Gly423= NP_997397.1:p.Gly423Ser
differentially expressed in FDCP 8 homolog isoform X2 XP_016878847.1:p.Gly362= XP_016878847.1:p.Gly362Ser
differentially expressed in FDCP 8 homolog isoform X3 XP_011521460.1:p.Gly360= XP_011521460.1:p.Gly360Ser
differentially expressed in FDCP 8 homolog isoform X3 XP_016878848.1:p.Gly360= XP_016878848.1:p.Gly360Ser
differentially expressed in FDCP 8 homolog isoform X7 XP_016878850.1:p.Gly396= XP_016878850.1:p.Gly396Ser
differentially expressed in FDCP 8 homolog isoform X8 XP_016878851.1:p.Gly394= XP_016878851.1:p.Gly394Ser
differentially expressed in FDCP 8 homolog isoform X4 XP_016878849.1:p.Gly345= XP_016878849.1:p.Gly345Ser
differentially expressed in FDCP 8 homolog isoform X10 XP_016878853.1:p.Gly379= XP_016878853.1:p.Gly379Ser
differentially expressed in FDCP 8 homolog isoform X2 XP_016878856.1:p.Gly362= XP_016878856.1:p.Gly362Ser
differentially expressed in FDCP 8 homolog isoform X4 XP_016878858.1:p.Gly345= XP_016878858.1:p.Gly345Ser
differentially expressed in FDCP 8 homolog isoform 5 NP_001229749.1:p.Gly362= NP_001229749.1:p.Gly362Ser
differentially expressed in FDCP 8 homolog isoform X9 XP_016878852.1:p.Gly423= XP_016878852.1:p.Gly423Ser
differentially expressed in FDCP 8 homolog isoform X11 XP_016878854.1:p.Gly406= XP_016878854.1:p.Gly406Ser
differentially expressed in FDCP 8 homolog isoform 5 NP_001229747.1:p.Gly362= NP_001229747.1:p.Gly362Ser
differentially expressed in FDCP 8 homolog isoform 3 NP_001229745.1:p.Gly352= NP_001229745.1:p.Gly352Ser
differentially expressed in FDCP 8 homolog isoform 4 NP_001229746.1:p.Gly302= NP_001229746.1:p.Gly302Ser
differentially expressed in FDCP 8 homolog isoform X11 XP_047290228.1:p.Gly406= XP_047290228.1:p.Gly406Ser
differentially expressed in FDCP 8 homolog isoform X3 XP_047290229.1:p.Gly360= XP_047290229.1:p.Gly360Ser
differentially expressed in FDCP 8 homolog isoform 6 NP_001229748.1:p.Gly345= NP_001229748.1:p.Gly345Ser
differentially expressed in FDCP 8 homolog isoform X3 XP_005256375.1:p.Gly448= XP_005256375.1:p.Gly448Ser
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 TOPMED ss5026637739 Apr 26, 2021 (155)
2 TopMed NC_000016.10 - 89964251 Apr 26, 2021 (155)
3 ALFA NC_000016.10 - 89964251 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
242183400, 10814082764, ss5026637739 NC_000016.10:89964250:G:A NC_000016.10:89964250:G:A (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 rs1461520374

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