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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.

rs1467219612

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr4:51899271 (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>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.000004 (1/264690, TOPMED)
C=0.000007 (1/140260, GnomAD)
C=0.00007 (1/14050, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
DCUN1D4 : 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 14050 T=0.99993 C=0.00007 0.999858 0.0 0.000142 0
European Sub 9690 T=0.9999 C=0.0001 0.999794 0.0 0.000206 0
African Sub 2898 T=1.0000 C=0.0000 1.0 0.0 0.0 N/A
African Others Sub 114 T=1.000 C=0.000 1.0 0.0 0.0 N/A
African American Sub 2784 T=1.0000 C=0.0000 1.0 0.0 0.0 N/A
Asian Sub 112 T=1.000 C=0.000 1.0 0.0 0.0 N/A
East Asian Sub 86 T=1.00 C=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 26 T=1.00 C=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 T=1.000 C=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 T=1.000 C=0.000 1.0 0.0 0.0 N/A
South Asian Sub 98 T=1.00 C=0.00 1.0 0.0 0.0 N/A
Other Sub 496 T=1.000 C=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 T=0.999996 C=0.000004
gnomAD - Genomes Global Study-wide 140260 T=0.999993 C=0.000007
gnomAD - Genomes European Sub 75946 T=0.99999 C=0.00001
gnomAD - Genomes African Sub 42054 T=1.00000 C=0.00000
gnomAD - Genomes American Sub 13662 T=1.00000 C=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3318 T=1.0000 C=0.0000
gnomAD - Genomes East Asian Sub 3130 T=1.0000 C=0.0000
gnomAD - Genomes Other Sub 2150 T=1.0000 C=0.0000
Allele Frequency Aggregator Total Global 14050 T=0.99993 C=0.00007
Allele Frequency Aggregator European Sub 9690 T=0.9999 C=0.0001
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 4 NC_000004.12:g.51899271T>C
GRCh37.p13 chr 4 NC_000004.11:g.52765437T>C
Gene: DCUN1D4, defective in cullin neddylation 1 domain containing 4 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
DCUN1D4 transcript variant 3 NM_001287755.1:c.640T>C C [TGT] > R [CGT] Coding Sequence Variant
DCN1-like protein 4 isoform 3 NP_001274684.1:p.Cys214Arg C (Cys) > R (Arg) Missense Variant
DCUN1D4 transcript variant 1 NM_001040402.3:c.508T>C C [TGT] > R [CGT] Coding Sequence Variant
DCN1-like protein 4 isoform 1 NP_001035492.1:p.Cys170Arg C (Cys) > R (Arg) Missense Variant
DCUN1D4 transcript variant 2 NM_015115.4:c.508T>C C [TGT] > R [CGT] Coding Sequence Variant
DCN1-like protein 4 isoform 2 NP_055930.2:p.Cys170Arg C (Cys) > R (Arg) Missense Variant
DCUN1D4 transcript variant 4 NM_001287757.2:c.328T>C C [TGT] > R [CGT] Coding Sequence Variant
DCN1-like protein 4 isoform 4 NP_001274686.1:p.Cys110Arg C (Cys) > R (Arg) Missense Variant
DCUN1D4 transcript variant X1 XM_005265731.4:c.640T>C C [TGT] > R [CGT] Coding Sequence Variant
DCN1-like protein 4 isoform X1 XP_005265788.1:p.Cys214Arg C (Cys) > R (Arg) Missense Variant
DCUN1D4 transcript variant X2 XM_047449871.1:c.328T>C C [TGT] > R [CGT] Coding Sequence Variant
DCN1-like protein 4 isoform X2 XP_047305827.1:p.Cys110Arg C (Cys) > R (Arg) Missense Variant
DCUN1D4 transcript variant X3 XM_047449872.1:c.514T>C C [TGT] > R [CGT] Coding Sequence Variant
DCN1-like protein 4 isoform X3 XP_047305828.1:p.Cys172Arg C (Cys) > R (Arg) Missense Variant
DCUN1D4 transcript variant X4 XM_047449873.1:c.514T>C C [TGT] > R [CGT] Coding Sequence Variant
DCN1-like protein 4 isoform X3 XP_047305829.1:p.Cys172Arg C (Cys) > R (Arg) Missense Variant
DCUN1D4 transcript variant X5 XM_047449874.1:c.514T>C C [TGT] > R [CGT] Coding Sequence Variant
DCN1-like protein 4 isoform X3 XP_047305830.1:p.Cys172Arg C (Cys) > R (Arg) Missense Variant
DCUN1D4 transcript variant X6 XM_047449875.1:c.640T>C C [TGT] > R [CGT] Coding Sequence Variant
DCN1-like protein 4 isoform X4 XP_047305831.1:p.Cys214Arg C (Cys) > R (Arg) Missense Variant
DCUN1D4 transcript variant X8 XM_017007912.3:c.514T>C C [TGT] > R [CGT] Coding Sequence Variant
DCN1-like protein 4 isoform X5 XP_016863401.1:p.Cys172Arg C (Cys) > R (Arg) Missense Variant
DCUN1D4 transcript variant X9 XM_047449876.1:c.640T>C C [TGT] > R [CGT] Coding Sequence Variant
DCN1-like protein 4 isoform X6 XP_047305832.1:p.Cys214Arg C (Cys) > R (Arg) Missense Variant
DCUN1D4 transcript variant X10 XM_024453944.2:c.328T>C C [TGT] > R [CGT] Coding Sequence Variant
DCN1-like protein 4 isoform X2 XP_024309712.1:p.Cys110Arg C (Cys) > R (Arg) Missense Variant
DCUN1D4 transcript variant X11 XM_011534380.2:c.328T>C C [TGT] > R [CGT] Coding Sequence Variant
DCN1-like protein 4 isoform X2 XP_011532682.1:p.Cys110Arg C (Cys) > R (Arg) Missense Variant
DCUN1D4 transcript variant X12 XM_047449877.1:c.328T>C C [TGT] > R [CGT] Coding Sequence Variant
DCN1-like protein 4 isoform X2 XP_047305833.1:p.Cys110Arg C (Cys) > R (Arg) Missense Variant
DCUN1D4 transcript variant X13 XM_024453943.2:c.328T>C C [TGT] > R [CGT] Coding Sequence Variant
DCN1-like protein 4 isoform X2 XP_024309711.1:p.Cys110Arg C (Cys) > R (Arg) Missense Variant
DCUN1D4 transcript variant X14 XM_047449878.1:c.508T>C C [TGT] > R [CGT] Coding Sequence Variant
DCN1-like protein 4 isoform X7 XP_047305834.1:p.Cys170Arg C (Cys) > R (Arg) Missense Variant
DCUN1D4 transcript variant X15 XM_047449879.1:c.514T>C C [TGT] > R [CGT] Coding Sequence Variant
DCN1-like protein 4 isoform X8 XP_047305835.1:p.Cys172Arg C (Cys) > R (Arg) Missense Variant
DCUN1D4 transcript variant X16 XM_047449880.1:c.508T>C C [TGT] > R [CGT] Coding Sequence Variant
DCN1-like protein 4 isoform X9 XP_047305836.1:p.Cys170Arg C (Cys) > R (Arg) Missense Variant
DCUN1D4 transcript variant X17 XM_024453945.2:c.328T>C C [TGT] > R [CGT] Coding Sequence Variant
DCN1-like protein 4 isoform X10 XP_024309713.1:p.Cys110Arg C (Cys) > R (Arg) Missense Variant
DCUN1D4 transcript variant X18 XM_047449881.1:c.328T>C C [TGT] > R [CGT] Coding Sequence Variant
DCN1-like protein 4 isoform X10 XP_047305837.1:p.Cys110Arg C (Cys) > R (Arg) Missense Variant
DCUN1D4 transcript variant X19 XM_047449882.1:c.328T>C C [TGT] > R [CGT] Coding Sequence Variant
DCN1-like protein 4 isoform X2 XP_047305838.1:p.Cys110Arg C (Cys) > R (Arg) Missense Variant
DCUN1D4 transcript variant X20 XM_017007913.3:c.88T>C C [TGT] > R [CGT] Coding Sequence Variant
DCN1-like protein 4 isoform X11 XP_016863402.1:p.Cys30Arg C (Cys) > R (Arg) Missense Variant
DCUN1D4 transcript variant X7 XR_007096386.1:n.647T>C 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 T= C
GRCh38.p14 chr 4 NC_000004.12:g.51899271= NC_000004.12:g.51899271T>C
GRCh37.p13 chr 4 NC_000004.11:g.52765437= NC_000004.11:g.52765437T>C
DCUN1D4 transcript variant X1 XM_005265731.4:c.640= XM_005265731.4:c.640T>C
DCUN1D4 transcript variant X1 XM_005265731.3:c.640= XM_005265731.3:c.640T>C
DCUN1D4 transcript variant X1 XM_005265731.2:c.640= XM_005265731.2:c.640T>C
DCUN1D4 transcript variant X2 XM_005265731.1:c.640= XM_005265731.1:c.640T>C
DCUN1D4 transcript variant 2 NM_015115.4:c.508= NM_015115.4:c.508T>C
DCUN1D4 transcript variant 2 NM_015115.3:c.508= NM_015115.3:c.508T>C
DCUN1D4 transcript variant 2 NM_015115.2:c.508= NM_015115.2:c.508T>C
DCUN1D4 transcript variant X8 XM_017007912.3:c.514= XM_017007912.3:c.514T>C
DCUN1D4 transcript variant X7 XM_017007912.2:c.514= XM_017007912.2:c.514T>C
DCUN1D4 transcript variant X7 XM_017007912.1:c.514= XM_017007912.1:c.514T>C
DCUN1D4 transcript variant 1 NM_001040402.3:c.508= NM_001040402.3:c.508T>C
DCUN1D4 transcript variant 1 NM_001040402.2:c.508= NM_001040402.2:c.508T>C
DCUN1D4 transcript variant 1 NM_001040402.1:c.508= NM_001040402.1:c.508T>C
DCUN1D4 transcript variant X20 XM_017007913.3:c.88= XM_017007913.3:c.88T>C
DCUN1D4 transcript variant X19 XM_017007913.2:c.88= XM_017007913.2:c.88T>C
DCUN1D4 transcript variant X14 XM_017007913.1:c.88= XM_017007913.1:c.88T>C
DCUN1D4 transcript variant 4 NM_001287757.2:c.328= NM_001287757.2:c.328T>C
DCUN1D4 transcript variant 4 NM_001287757.1:c.328= NM_001287757.1:c.328T>C
DCUN1D4 transcript variant X10 XM_024453944.2:c.328= XM_024453944.2:c.328T>C
DCUN1D4 transcript variant X13 XM_024453944.1:c.328= XM_024453944.1:c.328T>C
DCUN1D4 transcript variant X11 XM_011534380.2:c.328= XM_011534380.2:c.328T>C
DCUN1D4 transcript variant X12 XM_011534380.1:c.328= XM_011534380.1:c.328T>C
DCUN1D4 transcript variant X13 XM_024453943.2:c.328= XM_024453943.2:c.328T>C
DCUN1D4 transcript variant X11 XM_024453943.1:c.328= XM_024453943.1:c.328T>C
DCUN1D4 transcript variant X17 XM_024453945.2:c.328= XM_024453945.2:c.328T>C
DCUN1D4 transcript variant X18 XM_024453945.1:c.328= XM_024453945.1:c.328T>C
DCUN1D4 transcript variant X15 XM_047449879.1:c.514= XM_047449879.1:c.514T>C
DCUN1D4 transcript variant X4 XM_047449873.1:c.514= XM_047449873.1:c.514T>C
DCUN1D4 transcript variant X3 XM_047449872.1:c.514= XM_047449872.1:c.514T>C
DCUN1D4 transcript variant X5 XM_047449874.1:c.514= XM_047449874.1:c.514T>C
DCUN1D4 transcript variant 3 NM_001287755.1:c.640= NM_001287755.1:c.640T>C
DCUN1D4 transcript variant X12 XM_047449877.1:c.328= XM_047449877.1:c.328T>C
DCUN1D4 transcript variant X19 XM_047449882.1:c.328= XM_047449882.1:c.328T>C
DCUN1D4 transcript variant X2 XM_047449871.1:c.328= XM_047449871.1:c.328T>C
DCUN1D4 transcript variant X18 XM_047449881.1:c.328= XM_047449881.1:c.328T>C
DCUN1D4 transcript variant X7 XR_007096386.1:n.647= XR_007096386.1:n.647T>C
DCUN1D4 transcript variant X6 XM_047449875.1:c.640= XM_047449875.1:c.640T>C
DCUN1D4 transcript variant X9 XM_047449876.1:c.640= XM_047449876.1:c.640T>C
DCUN1D4 transcript variant X14 XM_047449878.1:c.508= XM_047449878.1:c.508T>C
DCUN1D4 transcript variant X16 XM_047449880.1:c.508= XM_047449880.1:c.508T>C
DCN1-like protein 4 isoform X1 XP_005265788.1:p.Cys214= XP_005265788.1:p.Cys214Arg
DCN1-like protein 4 isoform 2 NP_055930.2:p.Cys170= NP_055930.2:p.Cys170Arg
DCN1-like protein 4 isoform X5 XP_016863401.1:p.Cys172= XP_016863401.1:p.Cys172Arg
DCN1-like protein 4 isoform 1 NP_001035492.1:p.Cys170= NP_001035492.1:p.Cys170Arg
DCN1-like protein 4 isoform X11 XP_016863402.1:p.Cys30= XP_016863402.1:p.Cys30Arg
DCN1-like protein 4 isoform 4 NP_001274686.1:p.Cys110= NP_001274686.1:p.Cys110Arg
DCN1-like protein 4 isoform X2 XP_024309712.1:p.Cys110= XP_024309712.1:p.Cys110Arg
DCN1-like protein 4 isoform X2 XP_011532682.1:p.Cys110= XP_011532682.1:p.Cys110Arg
DCN1-like protein 4 isoform X2 XP_024309711.1:p.Cys110= XP_024309711.1:p.Cys110Arg
DCN1-like protein 4 isoform X10 XP_024309713.1:p.Cys110= XP_024309713.1:p.Cys110Arg
DCN1-like protein 4 isoform X8 XP_047305835.1:p.Cys172= XP_047305835.1:p.Cys172Arg
DCN1-like protein 4 isoform X3 XP_047305829.1:p.Cys172= XP_047305829.1:p.Cys172Arg
DCN1-like protein 4 isoform X3 XP_047305828.1:p.Cys172= XP_047305828.1:p.Cys172Arg
DCN1-like protein 4 isoform X3 XP_047305830.1:p.Cys172= XP_047305830.1:p.Cys172Arg
DCN1-like protein 4 isoform 3 NP_001274684.1:p.Cys214= NP_001274684.1:p.Cys214Arg
DCN1-like protein 4 isoform X2 XP_047305833.1:p.Cys110= XP_047305833.1:p.Cys110Arg
DCN1-like protein 4 isoform X2 XP_047305838.1:p.Cys110= XP_047305838.1:p.Cys110Arg
DCN1-like protein 4 isoform X2 XP_047305827.1:p.Cys110= XP_047305827.1:p.Cys110Arg
DCN1-like protein 4 isoform X10 XP_047305837.1:p.Cys110= XP_047305837.1:p.Cys110Arg
DCN1-like protein 4 isoform X4 XP_047305831.1:p.Cys214= XP_047305831.1:p.Cys214Arg
DCN1-like protein 4 isoform X6 XP_047305832.1:p.Cys214= XP_047305832.1:p.Cys214Arg
DCN1-like protein 4 isoform X7 XP_047305834.1:p.Cys170= XP_047305834.1:p.Cys170Arg
DCN1-like protein 4 isoform X9 XP_047305836.1:p.Cys170= XP_047305836.1:p.Cys170Arg
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#.

3 SubSNP, 3 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2747236252 Nov 08, 2017 (151)
2 GNOMAD ss2808911599 Nov 08, 2017 (151)
3 TOPMED ss4612666888 Apr 26, 2021 (155)
4 gnomAD - Genomes NC_000004.12 - 51899271 Apr 26, 2021 (155)
5 TopMed NC_000004.12 - 51899271 Apr 26, 2021 (155)
6 ALFA NC_000004.12 - 51899271 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
ss2747236252, ss2808911599 NC_000004.11:52765436:T:C NC_000004.12:51899270:T:C (self)
148760098, 450044444, 14840275601, ss4612666888 NC_000004.12:51899270:T:C NC_000004.12:51899270: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 rs1467219612

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