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dbSNP Short Genetic Variations

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.

rs1485381441

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr7:32728912-32728922 (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
dup(GGC)3C
Variation Type
Indel Insertion and Deletion
Frequency
dup(GGC)3C=0.000007 (1/140194, GnomAD)
dup(GGC)3C=0.00000 (0/10680, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ZNRF2P1 : Non Coding Transcript 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 10680 CGGCGGCGGCC=1.00000 CGGCGGCGGCCGGCGGCGGCC=0.00000 1.0 0.0 0.0 N/A
European Sub 6962 CGGCGGCGGCC=1.0000 CGGCGGCGGCCGGCGGCGGCC=0.0000 1.0 0.0 0.0 N/A
African Sub 2294 CGGCGGCGGCC=1.0000 CGGCGGCGGCCGGCGGCGGCC=0.0000 1.0 0.0 0.0 N/A
African Others Sub 84 CGGCGGCGGCC=1.00 CGGCGGCGGCCGGCGGCGGCC=0.00 1.0 0.0 0.0 N/A
African American Sub 2210 CGGCGGCGGCC=1.0000 CGGCGGCGGCCGGCGGCGGCC=0.0000 1.0 0.0 0.0 N/A
Asian Sub 108 CGGCGGCGGCC=1.000 CGGCGGCGGCCGGCGGCGGCC=0.000 1.0 0.0 0.0 N/A
East Asian Sub 84 CGGCGGCGGCC=1.00 CGGCGGCGGCCGGCGGCGGCC=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 24 CGGCGGCGGCC=1.00 CGGCGGCGGCCGGCGGCGGCC=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 CGGCGGCGGCC=1.000 CGGCGGCGGCCGGCGGCGGCC=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 CGGCGGCGGCC=1.000 CGGCGGCGGCCGGCGGCGGCC=0.000 1.0 0.0 0.0 N/A
South Asian Sub 94 CGGCGGCGGCC=1.00 CGGCGGCGGCCGGCGGCGGCC=0.00 1.0 0.0 0.0 N/A
Other Sub 466 CGGCGGCGGCC=1.000 CGGCGGCGGCCGGCGGCGGCC=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
gnomAD - Genomes Global Study-wide 140194 -

No frequency provided

dup(GGC)3C=0.000007
gnomAD - Genomes European Sub 75878 -

No frequency provided

dup(GGC)3C=0.00000
gnomAD - Genomes African Sub 42044 -

No frequency provided

dup(GGC)3C=0.00000
gnomAD - Genomes American Sub 13662 -

No frequency provided

dup(GGC)3C=0.00007
gnomAD - Genomes Ashkenazi Jewish Sub 3324 -

No frequency provided

dup(GGC)3C=0.0000
gnomAD - Genomes East Asian Sub 3134 -

No frequency provided

dup(GGC)3C=0.0000
gnomAD - Genomes Other Sub 2152 -

No frequency provided

dup(GGC)3C=0.0000
Allele Frequency Aggregator Total Global 10680 (CGG)3CC=1.00000 dup(GGC)3C=0.00000
Allele Frequency Aggregator European Sub 6962 (CGG)3CC=1.0000 dup(GGC)3C=0.0000
Allele Frequency Aggregator African Sub 2294 (CGG)3CC=1.0000 dup(GGC)3C=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 (CGG)3CC=1.000 dup(GGC)3C=0.000
Allele Frequency Aggregator Other Sub 466 (CGG)3CC=1.000 dup(GGC)3C=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 (CGG)3CC=1.000 dup(GGC)3C=0.000
Allele Frequency Aggregator Asian Sub 108 (CGG)3CC=1.000 dup(GGC)3C=0.000
Allele Frequency Aggregator South Asian Sub 94 (CGG)3CC=1.00 dup(GGC)3C=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 7 NC_000007.14:g.32728913_32728922dup
GRCh37.p13 chr 7 NC_000007.13:g.32768525_32768534dup
Gene: ZNRF2P1, zinc and ring finger 2 pseudogene 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
ZNRF2P1 transcript NR_003502.2:n.964_973dup 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 (CGG)3CC= dup(GGC)3C
GRCh38.p14 chr 7 NC_000007.14:g.32728912_32728922= NC_000007.14:g.32728913_32728922dup
GRCh37.p13 chr 7 NC_000007.13:g.32768524_32768534= NC_000007.13:g.32768525_32768534dup
ZNRF2P1 transcript NR_003502.2:n.963_973= NR_003502.2:n.964_973dup
LOC441208 transcript NM_001013723.1:c.*267A>G NM_001013723.1:c.*267delinsGCGGCGGCCGG
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 ss2851554950 Nov 08, 2017 (151)
2 gnomAD - Genomes NC_000007.14 - 32728912 Apr 26, 2021 (155)
3 ALFA NC_000007.14 - 32728912 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
ss2851554950 NC_000007.13:32768523::CGGCGGCGGC NC_000007.14:32728911:CGGCGGCGGCC:…

NC_000007.14:32728911:CGGCGGCGGCC:CGGCGGCGGCCGGCGGCGGCC

(self)
257466713 NC_000007.14:32728911::CGGCGGCGGC NC_000007.14:32728911:CGGCGGCGGCC:…

NC_000007.14:32728911:CGGCGGCGGCC:CGGCGGCGGCCGGCGGCGGCC

(self)
3349056430 NC_000007.14:32728911:CGGCGGCGGCC:…

NC_000007.14:32728911:CGGCGGCGGCC:CGGCGGCGGCCGGCGGCGGCC

NC_000007.14:32728911:CGGCGGCGGCC:…

NC_000007.14:32728911:CGGCGGCGGCC:CGGCGGCGGCCGGCGGCGGCC

(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 rs1485381441

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