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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.

rs1467381847

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr9:37305602-37305607 (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
dupC
Variation Type
Indel Insertion and Deletion
Frequency
dupC=0.000004 (1/251320, GnomAD_exome)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ZCCHC7 : Frameshift Variant
Publications
0 citations
Genomic View
See rs on genome
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 251320 -

No frequency provided

dupC=0.000004
gnomAD - Exomes European Sub 135262 -

No frequency provided

dupC=0.000007
gnomAD - Exomes Asian Sub 49004 -

No frequency provided

dupC=0.00000
gnomAD - Exomes American Sub 34592 -

No frequency provided

dupC=0.00000
gnomAD - Exomes African Sub 16256 -

No frequency provided

dupC=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10070 -

No frequency provided

dupC=0.00000
gnomAD - Exomes Other Sub 6136 -

No frequency provided

dupC=0.0000
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.37305607dup
GRCh37.p13 chr 9 NC_000009.11:g.37305604dup
Gene: ZCCHC7, zinc finger CCHC-type containing 7 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
ZCCHC7 transcript variant 4 NM_032226.3:c.844dup L [CTT] > P [CCTT] Coding Sequence Variant
zinc finger CCHC domain-containing protein 7 NP_115602.2:p.Leu282fs L (Leu) > P (Pro) Frameshift Variant
ZCCHC7 transcript variant 3 NM_001289119.2:c.844dup L [CTT] > P [CCTT] Coding Sequence Variant
zinc finger CCHC domain-containing protein 7 NP_001276048.1:p.Leu282fs L (Leu) > P (Pro) Frameshift Variant
ZCCHC7 transcript variant 1 NM_001289121.2:c.844dup L [CTT] > P [CCTT] Coding Sequence Variant
zinc finger CCHC domain-containing protein 7 NP_001276050.1:p.Leu282fs L (Leu) > P (Pro) Frameshift Variant
ZCCHC7 transcript variant 2 NM_001289120.2:c.844dup L [CTT] > P [CCTT] Coding Sequence Variant
zinc finger CCHC domain-containing protein 7 NP_001276049.1:p.Leu282fs L (Leu) > P (Pro) Frameshift Variant
ZCCHC7 transcript variant 5 NR_110317.1:n.386dup N/A Non Coding Transcript Variant
ZCCHC7 transcript variant X14 XM_047423962.1:c.-32_-27= N/A 5 Prime UTR Variant
ZCCHC7 transcript variant X1 XM_005251608.5:c.844dup L [CTT] > P [CCTT] Coding Sequence Variant
zinc finger CCHC domain-containing protein 7 isoform X1 XP_005251665.1:p.Leu282fs L (Leu) > P (Pro) Frameshift Variant
ZCCHC7 transcript variant X2 XM_005251612.4:c.844dup L [CTT] > P [CCTT] Coding Sequence Variant
zinc finger CCHC domain-containing protein 7 isoform X1 XP_005251669.1:p.Leu282fs L (Leu) > P (Pro) Frameshift Variant
ZCCHC7 transcript variant X3 XM_011518050.3:c.844dup L [CTT] > P [CCTT] Coding Sequence Variant
zinc finger CCHC domain-containing protein 7 isoform X2 XP_011516352.1:p.Leu282fs L (Leu) > P (Pro) Frameshift Variant
ZCCHC7 transcript variant X4 XM_047423957.1:c.844dup L [CTT] > P [CCTT] Coding Sequence Variant
zinc finger CCHC domain-containing protein 7 isoform X2 XP_047279913.1:p.Leu282fs L (Leu) > P (Pro) Frameshift Variant
ZCCHC7 transcript variant X5 XM_017015198.2:c.844dup L [CTT] > P [CCTT] Coding Sequence Variant
zinc finger CCHC domain-containing protein 7 isoform X2 XP_016870687.1:p.Leu282fs L (Leu) > P (Pro) Frameshift Variant
ZCCHC7 transcript variant X6 XM_017015197.2:c.844dup L [CTT] > P [CCTT] Coding Sequence Variant
zinc finger CCHC domain-containing protein 7 isoform X2 XP_016870686.1:p.Leu282fs L (Leu) > P (Pro) Frameshift Variant
ZCCHC7 transcript variant X7 XM_047423958.1:c.844dup L [CTT] > P [CCTT] Coding Sequence Variant
zinc finger CCHC domain-containing protein 7 isoform X2 XP_047279914.1:p.Leu282fs L (Leu) > P (Pro) Frameshift Variant
ZCCHC7 transcript variant X8 XM_011518051.3:c.262dup L [CTT] > P [CCTT] Coding Sequence Variant
zinc finger CCHC domain-containing protein 7 isoform X3 XP_011516353.1:p.Leu88fs L (Leu) > P (Pro) Frameshift Variant
ZCCHC7 transcript variant X9 XM_047423959.1:c.250dup L [CTT] > P [CCTT] Coding Sequence Variant
zinc finger CCHC domain-containing protein 7 isoform X4 XP_047279915.1:p.Leu84fs L (Leu) > P (Pro) Frameshift Variant
ZCCHC7 transcript variant X10 XM_017015199.3:c.250dup L [CTT] > P [CCTT] Coding Sequence Variant
zinc finger CCHC domain-containing protein 7 isoform X4 XP_016870688.1:p.Leu84fs L (Leu) > P (Pro) Frameshift Variant
ZCCHC7 transcript variant X11 XM_047423960.1:c.250dup L [CTT] > P [CCTT] Coding Sequence Variant
zinc finger CCHC domain-containing protein 7 isoform X4 XP_047279916.1:p.Leu84fs L (Leu) > P (Pro) Frameshift Variant
ZCCHC7 transcript variant X12 XM_017015200.2:c.250dup L [CTT] > P [CCTT] Coding Sequence Variant
zinc finger CCHC domain-containing protein 7 isoform X4 XP_016870689.1:p.Leu84fs L (Leu) > P (Pro) Frameshift Variant
ZCCHC7 transcript variant X13 XM_024447691.2:c.250dup L [CTT] > P [CCTT] Coding Sequence Variant
zinc finger CCHC domain-containing protein 7 isoform X4 XP_024303459.1:p.Leu84fs L (Leu) > P (Pro) Frameshift 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 (C)6= dupC
GRCh38.p14 chr 9 NC_000009.12:g.37305602_37305607= NC_000009.12:g.37305607dup
GRCh37.p13 chr 9 NC_000009.11:g.37305599_37305604= NC_000009.11:g.37305604dup
ZCCHC7 transcript variant X1 XM_005251608.5:c.839_844= XM_005251608.5:c.844dup
ZCCHC7 transcript variant X2 XM_005251608.4:c.839_844= XM_005251608.4:c.844dup
ZCCHC7 transcript variant X1 XM_005251608.3:c.839_844= XM_005251608.3:c.844dup
ZCCHC7 transcript variant X3 XM_005251608.2:c.839_844= XM_005251608.2:c.844dup
ZCCHC7 transcript variant X3 XM_005251608.1:c.839_844= XM_005251608.1:c.844dup
ZCCHC7 transcript variant X2 XM_005251612.4:c.839_844= XM_005251612.4:c.844dup
ZCCHC7 transcript variant X1 XM_005251612.3:c.839_844= XM_005251612.3:c.844dup
ZCCHC7 transcript variant X1 XM_005251612.2:c.839_844= XM_005251612.2:c.844dup
ZCCHC7 transcript variant X7 XM_005251612.1:c.839_844= XM_005251612.1:c.844dup
ZCCHC7 transcript variant X8 XM_011518051.3:c.257_262= XM_011518051.3:c.262dup
ZCCHC7 transcript variant X6 XM_011518051.2:c.257_262= XM_011518051.2:c.262dup
ZCCHC7 transcript variant X4 XM_011518051.1:c.257_262= XM_011518051.1:c.262dup
ZCCHC7 transcript variant X10 XM_017015199.3:c.245_250= XM_017015199.3:c.250dup
ZCCHC7 transcript variant X7 XM_017015199.2:c.245_250= XM_017015199.2:c.250dup
ZCCHC7 transcript variant X7 XM_017015199.1:c.245_250= XM_017015199.1:c.250dup
ZCCHC7 transcript variant X3 XM_011518050.3:c.839_844= XM_011518050.3:c.844dup
ZCCHC7 transcript variant X3 XM_011518050.2:c.839_844= XM_011518050.2:c.844dup
ZCCHC7 transcript variant X3 XM_011518050.1:c.839_844= XM_011518050.1:c.844dup
ZCCHC7 transcript variant 4 NM_032226.3:c.839_844= NM_032226.3:c.844dup
ZCCHC7 transcript variant 4 NM_032226.2:c.839_844= NM_032226.2:c.844dup
ZCCHC7 transcript variant X5 XM_017015198.2:c.839_844= XM_017015198.2:c.844dup
ZCCHC7 transcript variant X5 XM_017015198.1:c.839_844= XM_017015198.1:c.844dup
ZCCHC7 transcript variant 1 NM_001289121.2:c.839_844= NM_001289121.2:c.844dup
ZCCHC7 transcript variant 1 NM_001289121.1:c.839_844= NM_001289121.1:c.844dup
ZCCHC7 transcript variant X12 XM_017015200.2:c.245_250= XM_017015200.2:c.250dup
ZCCHC7 transcript variant X8 XM_017015200.1:c.245_250= XM_017015200.1:c.250dup
ZCCHC7 transcript variant 2 NM_001289120.2:c.839_844= NM_001289120.2:c.844dup
ZCCHC7 transcript variant 2 NM_001289120.1:c.839_844= NM_001289120.1:c.844dup
ZCCHC7 transcript variant X6 XM_017015197.2:c.839_844= XM_017015197.2:c.844dup
ZCCHC7 transcript variant X4 XM_017015197.1:c.839_844= XM_017015197.1:c.844dup
ZCCHC7 transcript variant 3 NM_001289119.2:c.839_844= NM_001289119.2:c.844dup
ZCCHC7 transcript variant 3 NM_001289119.1:c.839_844= NM_001289119.1:c.844dup
ZCCHC7 transcript variant X13 XM_024447691.2:c.245_250= XM_024447691.2:c.250dup
ZCCHC7 transcript variant X9 XM_024447691.1:c.245_250= XM_024447691.1:c.250dup
ZCCHC7 transcript variant X7 XM_047423958.1:c.839_844= XM_047423958.1:c.844dup
ZCCHC7 transcript variant X11 XM_047423960.1:c.245_250= XM_047423960.1:c.250dup
ZCCHC7 transcript variant X9 XM_047423959.1:c.245_250= XM_047423959.1:c.250dup
ZCCHC7 transcript variant X4 XM_047423957.1:c.839_844= XM_047423957.1:c.844dup
ZCCHC7 transcript variant 5 NR_110317.1:n.381_386= NR_110317.1:n.386dup
ZCCHC7 transcript variant X14 XM_047423962.1:c.-32_-27= XM_047423962.1:c.-27dup
zinc finger CCHC domain-containing protein 7 isoform X1 XP_005251665.1:p.Ala280_Leu282= XP_005251665.1:p.Leu282fs
zinc finger CCHC domain-containing protein 7 isoform X1 XP_005251669.1:p.Ala280_Leu282= XP_005251669.1:p.Leu282fs
zinc finger CCHC domain-containing protein 7 isoform X3 XP_011516353.1:p.Ala86_Leu88= XP_011516353.1:p.Leu88fs
zinc finger CCHC domain-containing protein 7 isoform X4 XP_016870688.1:p.Ala82_Leu84= XP_016870688.1:p.Leu84fs
zinc finger CCHC domain-containing protein 7 isoform X2 XP_011516352.1:p.Ala280_Leu282= XP_011516352.1:p.Leu282fs
zinc finger CCHC domain-containing protein 7 NP_115602.2:p.Ala280_Leu282= NP_115602.2:p.Leu282fs
zinc finger CCHC domain-containing protein 7 isoform X2 XP_016870687.1:p.Ala280_Leu282= XP_016870687.1:p.Leu282fs
zinc finger CCHC domain-containing protein 7 NP_001276050.1:p.Ala280_Leu282= NP_001276050.1:p.Leu282fs
zinc finger CCHC domain-containing protein 7 isoform X4 XP_016870689.1:p.Ala82_Leu84= XP_016870689.1:p.Leu84fs
zinc finger CCHC domain-containing protein 7 NP_001276049.1:p.Ala280_Leu282= NP_001276049.1:p.Leu282fs
zinc finger CCHC domain-containing protein 7 isoform X2 XP_016870686.1:p.Ala280_Leu282= XP_016870686.1:p.Leu282fs
zinc finger CCHC domain-containing protein 7 NP_001276048.1:p.Ala280_Leu282= NP_001276048.1:p.Leu282fs
zinc finger CCHC domain-containing protein 7 isoform X4 XP_024303459.1:p.Ala82_Leu84= XP_024303459.1:p.Leu84fs
zinc finger CCHC domain-containing protein 7 isoform X2 XP_047279914.1:p.Ala280_Leu282= XP_047279914.1:p.Leu282fs
zinc finger CCHC domain-containing protein 7 isoform X4 XP_047279916.1:p.Ala82_Leu84= XP_047279916.1:p.Leu84fs
zinc finger CCHC domain-containing protein 7 isoform X4 XP_047279915.1:p.Ala82_Leu84= XP_047279915.1:p.Leu84fs
zinc finger CCHC domain-containing protein 7 isoform X2 XP_047279913.1:p.Ala280_Leu282= XP_047279913.1:p.Leu282fs
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, 1 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2737607847 Nov 08, 2017 (151)
2 gnomAD - Exomes NC_000009.11 - 37305599 Jul 13, 2019 (153)
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
6791922, ss2737607847 NC_000009.11:37305598::C NC_000009.12:37305601:CCCCCC:CCCCC…

NC_000009.12:37305601:CCCCCC:CCCCCCC

(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 rs1467381847

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