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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.

rs1455345609

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr7:100072178 (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
A>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.000004 (1/231052, GnomAD_exome)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ZNF3 : Missense 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 231052 A=0.999996 C=0.000004
gnomAD - Exomes European Sub 128750 A=1.000000 C=0.000000
gnomAD - Exomes Asian Sub 43364 A=0.99998 C=0.00002
gnomAD - Exomes American Sub 29360 A=1.00000 C=0.00000
gnomAD - Exomes African Sub 15150 A=1.00000 C=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 8930 A=1.0000 C=0.0000
gnomAD - Exomes Other Sub 5498 A=1.0000 C=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 7 NC_000007.14:g.100072178A>C
GRCh37.p13 chr 7 NC_000007.13:g.99669801A>C
Gene: ZNF3, zinc finger protein 3 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ZNF3 transcript variant 10 NM_001318137.2:c.163+2957…

NM_001318137.2:c.163+2957T>G

 		N/A Intron Variant
ZNF3 transcript variant 14 NM_001371210.1:c.271+2957…

NM_001371210.1:c.271+2957T>G

 		N/A Intron Variant
ZNF3 transcript variant 1 NM_017715.4:c.271+2957T>G N/A Intron Variant
ZNF3 transcript variant 2 NM_032924.5:c.306T>G I [ATT] > M [ATG] Coding Sequence Variant
zinc finger protein 3 isoform 2 NP_116313.3:p.Ile102Met I (Ile) > M (Met) Missense Variant
ZNF3 transcript variant 11 NM_001362775.2:c.327T>G I [ATT] > M [ATG] Coding Sequence Variant
zinc finger protein 3 isoform 4 NP_001349704.1:p.Ile109Met I (Ile) > M (Met) Missense Variant
ZNF3 transcript variant 9 NM_001318136.2:c.327T>G I [ATT] > M [ATG] Coding Sequence Variant
zinc finger protein 3 isoform 4 NP_001305065.1:p.Ile109Met I (Ile) > M (Met) Missense Variant
ZNF3 transcript variant 6 NM_001278291.2:c.198T>G I [ATT] > M [ATG] Coding Sequence Variant
zinc finger protein 3 isoform 3 NP_001265220.1:p.Ile66Met I (Ile) > M (Met) Missense Variant
ZNF3 transcript variant 8 NM_001318135.2:c.306T>G I [ATT] > M [ATG] Coding Sequence Variant
zinc finger protein 3 isoform 2 NP_001305064.1:p.Ile102Met I (Ile) > M (Met) Missense Variant
ZNF3 transcript variant 13 NM_001362777.2:c.198T>G I [ATT] > M [ATG] Coding Sequence Variant
zinc finger protein 3 isoform 3 NP_001349706.1:p.Ile66Met I (Ile) > M (Met) Missense Variant
ZNF3 transcript variant 12 NM_001362776.2:c.321T>G I [ATT] > M [ATG] Coding Sequence Variant
zinc finger protein 3 isoform 6 NP_001349705.1:p.Ile107Met I (Ile) > M (Met) Missense Variant
ZNF3 transcript variant 3 NM_001278284.2:c.306T>G I [ATT] > M [ATG] Coding Sequence Variant
zinc finger protein 3 isoform 2 NP_001265213.1:p.Ile102Met I (Ile) > M (Met) Missense Variant
ZNF3 transcript variant 4 NM_001278287.2:c.306T>G I [ATT] > M [ATG] Coding Sequence Variant
zinc finger protein 3 isoform 2 NP_001265216.1:p.Ile102Met I (Ile) > M (Met) Missense Variant
ZNF3 transcript variant 7 NM_001278292.2:c.198T>G I [ATT] > M [ATG] Coding Sequence Variant
zinc finger protein 3 isoform 3 NP_001265221.1:p.Ile66Met I (Ile) > M (Met) Missense Variant
ZNF3 transcript variant 22 NM_001371218.1:c.69T>G I [ATT] > M [ATG] Coding Sequence Variant
zinc finger protein 3 isoform 7 NP_001358147.1:p.Ile23Met I (Ile) > M (Met) Missense Variant
ZNF3 transcript variant 21 NM_001371217.1:c.327T>G I [ATT] > M [ATG] Coding Sequence Variant
zinc finger protein 3 isoform 4 NP_001358146.1:p.Ile109Met I (Ile) > M (Met) Missense Variant
ZNF3 transcript variant 20 NM_001371216.1:c.198T>G I [ATT] > M [ATG] Coding Sequence Variant
zinc finger protein 3 isoform 3 NP_001358145.1:p.Ile66Met I (Ile) > M (Met) Missense Variant
ZNF3 transcript variant 15 NM_001371211.1:c.306T>G I [ATT] > M [ATG] Coding Sequence Variant
zinc finger protein 3 isoform 2 NP_001358140.1:p.Ile102Met I (Ile) > M (Met) Missense Variant
ZNF3 transcript variant 18 NM_001371214.1:c.306T>G I [ATT] > M [ATG] Coding Sequence Variant
zinc finger protein 3 isoform 2 NP_001358143.1:p.Ile102Met I (Ile) > M (Met) Missense Variant
ZNF3 transcript variant 19 NM_001371215.1:c.198T>G I [ATT] > M [ATG] Coding Sequence Variant
zinc finger protein 3 isoform 3 NP_001358144.1:p.Ile66Met I (Ile) > M (Met) Missense Variant
ZNF3 transcript variant 16 NM_001371212.1:c.306T>G I [ATT] > M [ATG] Coding Sequence Variant
zinc finger protein 3 isoform 2 NP_001358141.1:p.Ile102Met I (Ile) > M (Met) Missense Variant
ZNF3 transcript variant 17 NM_001371213.1:c.306T>G I [ATT] > M [ATG] Coding Sequence Variant
zinc finger protein 3 isoform 2 NP_001358142.1:p.Ile102Met I (Ile) > M (Met) Missense Variant
ZNF3 transcript variant 5 NM_001278290.2:c.306T>G I [ATT] > M [ATG] Coding Sequence Variant
zinc finger protein 3 isoform 2 NP_001265219.1:p.Ile102Met I (Ile) > M (Met) Missense Variant
ZNF3 transcript variant X7 XM_047420802.1:c.271+2957…

XM_047420802.1:c.271+2957T>G

 		N/A Intron Variant
ZNF3 transcript variant X1 XM_024446919.2:c.321T>G I [ATT] > M [ATG] Coding Sequence Variant
zinc finger protein 3 isoform X1 XP_024302687.1:p.Ile107Met I (Ile) > M (Met) Missense Variant
ZNF3 transcript variant X2 XM_024446920.2:c.321T>G I [ATT] > M [ATG] Coding Sequence Variant
zinc finger protein 3 isoform X1 XP_024302688.1:p.Ile107Met I (Ile) > M (Met) Missense Variant
ZNF3 transcript variant X3 XM_024446921.2:c.321T>G I [ATT] > M [ATG] Coding Sequence Variant
zinc finger protein 3 isoform X1 XP_024302689.1:p.Ile107Met I (Ile) > M (Met) Missense Variant
ZNF3 transcript variant X4 XM_024446925.2:c.213T>G I [ATT] > M [ATG] Coding Sequence Variant
zinc finger protein 3 isoform X2 XP_024302693.1:p.Ile71Met I (Ile) > M (Met) Missense Variant
ZNF3 transcript variant X5 XM_024446928.2:c.213T>G I [ATT] > M [ATG] Coding Sequence Variant
zinc finger protein 3 isoform X2 XP_024302696.1:p.Ile71Met I (Ile) > M (Met) Missense Variant
ZNF3 transcript variant X6 XM_024446927.2:c.213T>G I [ATT] > M [ATG] Coding Sequence Variant
zinc finger protein 3 isoform X2 XP_024302695.1:p.Ile71Met I (Ile) > M (Met) 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 A= C
GRCh38.p14 chr 7 NC_000007.14:g.100072178= NC_000007.14:g.100072178A>C
GRCh37.p13 chr 7 NC_000007.13:g.99669801= NC_000007.13:g.99669801A>C
ZNF3 transcript variant 2 NM_032924.5:c.306= NM_032924.5:c.306T>G
ZNF3 transcript variant 2 NM_032924.4:c.306= NM_032924.4:c.306T>G
ZNF3 transcript variant X5 XM_024446928.2:c.213= XM_024446928.2:c.213T>G
ZNF3 transcript variant X10 XM_024446928.1:c.213= XM_024446928.1:c.213T>G
ZNF3 transcript variant 11 NM_001362775.2:c.327= NM_001362775.2:c.327T>G
ZNF3 transcript variant 11 NM_001362775.1:c.327= NM_001362775.1:c.327T>G
ZNF3 transcript variant X3 XM_024446921.2:c.321= XM_024446921.2:c.321T>G
ZNF3 transcript variant X3 XM_024446921.1:c.321= XM_024446921.1:c.321T>G
ZNF3 transcript variant 3 NM_001278284.2:c.306= NM_001278284.2:c.306T>G
ZNF3 transcript variant 3 NM_001278284.1:c.306= NM_001278284.1:c.306T>G
ZNF3 transcript variant 4 NM_001278287.2:c.306= NM_001278287.2:c.306T>G
ZNF3 transcript variant 4 NM_001278287.1:c.306= NM_001278287.1:c.306T>G
ZNF3 transcript variant 13 NM_001362777.2:c.198= NM_001362777.2:c.198T>G
ZNF3 transcript variant 13 NM_001362777.1:c.198= NM_001362777.1:c.198T>G
ZNF3 transcript variant 9 NM_001318136.2:c.327= NM_001318136.2:c.327T>G
ZNF3 transcript variant 9 NM_001318136.1:c.327= NM_001318136.1:c.327T>G
ZNF3 transcript variant X1 XM_024446919.2:c.321= XM_024446919.2:c.321T>G
ZNF3 transcript variant X1 XM_024446919.1:c.321= XM_024446919.1:c.321T>G
ZNF3 transcript variant X2 XM_024446920.2:c.321= XM_024446920.2:c.321T>G
ZNF3 transcript variant X2 XM_024446920.1:c.321= XM_024446920.1:c.321T>G
ZNF3 transcript variant 8 NM_001318135.2:c.306= NM_001318135.2:c.306T>G
ZNF3 transcript variant 8 NM_001318135.1:c.306= NM_001318135.1:c.306T>G
ZNF3 transcript variant 12 NM_001362776.2:c.321= NM_001362776.2:c.321T>G
ZNF3 transcript variant 12 NM_001362776.1:c.321= NM_001362776.1:c.321T>G
ZNF3 transcript variant X4 XM_024446925.2:c.213= XM_024446925.2:c.213T>G
ZNF3 transcript variant X7 XM_024446925.1:c.213= XM_024446925.1:c.213T>G
ZNF3 transcript variant 5 NM_001278290.2:c.306= NM_001278290.2:c.306T>G
ZNF3 transcript variant 5 NM_001278290.1:c.306= NM_001278290.1:c.306T>G
ZNF3 transcript variant 7 NM_001278292.2:c.198= NM_001278292.2:c.198T>G
ZNF3 transcript variant 7 NM_001278292.1:c.198= NM_001278292.1:c.198T>G
ZNF3 transcript variant X6 XM_024446927.2:c.213= XM_024446927.2:c.213T>G
ZNF3 transcript variant X9 XM_024446927.1:c.213= XM_024446927.1:c.213T>G
ZNF3 transcript variant 6 NM_001278291.2:c.198= NM_001278291.2:c.198T>G
ZNF3 transcript variant 6 NM_001278291.1:c.198= NM_001278291.1:c.198T>G
ZNF3 transcript variant 21 NM_001371217.1:c.327= NM_001371217.1:c.327T>G
ZNF3 transcript variant 15 NM_001371211.1:c.306= NM_001371211.1:c.306T>G
ZNF3 transcript variant 17 NM_001371213.1:c.306= NM_001371213.1:c.306T>G
ZNF3 transcript variant 22 NM_001371218.1:c.69= NM_001371218.1:c.69T>G
ZNF3 transcript variant 16 NM_001371212.1:c.306= NM_001371212.1:c.306T>G
ZNF3 transcript variant 18 NM_001371214.1:c.306= NM_001371214.1:c.306T>G
ZNF3 transcript variant 20 NM_001371216.1:c.198= NM_001371216.1:c.198T>G
ZNF3 transcript variant 19 NM_001371215.1:c.198= NM_001371215.1:c.198T>G
zinc finger protein 3 isoform 2 NP_116313.3:p.Ile102= NP_116313.3:p.Ile102Met
zinc finger protein 3 isoform X2 XP_024302696.1:p.Ile71= XP_024302696.1:p.Ile71Met
zinc finger protein 3 isoform 4 NP_001349704.1:p.Ile109= NP_001349704.1:p.Ile109Met
zinc finger protein 3 isoform X1 XP_024302689.1:p.Ile107= XP_024302689.1:p.Ile107Met
zinc finger protein 3 isoform 2 NP_001265213.1:p.Ile102= NP_001265213.1:p.Ile102Met
zinc finger protein 3 isoform 2 NP_001265216.1:p.Ile102= NP_001265216.1:p.Ile102Met
zinc finger protein 3 isoform 3 NP_001349706.1:p.Ile66= NP_001349706.1:p.Ile66Met
zinc finger protein 3 isoform 4 NP_001305065.1:p.Ile109= NP_001305065.1:p.Ile109Met
zinc finger protein 3 isoform X1 XP_024302687.1:p.Ile107= XP_024302687.1:p.Ile107Met
zinc finger protein 3 isoform X1 XP_024302688.1:p.Ile107= XP_024302688.1:p.Ile107Met
zinc finger protein 3 isoform 2 NP_001305064.1:p.Ile102= NP_001305064.1:p.Ile102Met
zinc finger protein 3 isoform 6 NP_001349705.1:p.Ile107= NP_001349705.1:p.Ile107Met
zinc finger protein 3 isoform X2 XP_024302693.1:p.Ile71= XP_024302693.1:p.Ile71Met
zinc finger protein 3 isoform 2 NP_001265219.1:p.Ile102= NP_001265219.1:p.Ile102Met
zinc finger protein 3 isoform 3 NP_001265221.1:p.Ile66= NP_001265221.1:p.Ile66Met
zinc finger protein 3 isoform X2 XP_024302695.1:p.Ile71= XP_024302695.1:p.Ile71Met
zinc finger protein 3 isoform 3 NP_001265220.1:p.Ile66= NP_001265220.1:p.Ile66Met
zinc finger protein 3 isoform 4 NP_001358146.1:p.Ile109= NP_001358146.1:p.Ile109Met
zinc finger protein 3 isoform 2 NP_001358140.1:p.Ile102= NP_001358140.1:p.Ile102Met
zinc finger protein 3 isoform 2 NP_001358142.1:p.Ile102= NP_001358142.1:p.Ile102Met
zinc finger protein 3 isoform 7 NP_001358147.1:p.Ile23= NP_001358147.1:p.Ile23Met
zinc finger protein 3 isoform 2 NP_001358141.1:p.Ile102= NP_001358141.1:p.Ile102Met
zinc finger protein 3 isoform 2 NP_001358143.1:p.Ile102= NP_001358143.1:p.Ile102Met
zinc finger protein 3 isoform 3 NP_001358145.1:p.Ile66= NP_001358145.1:p.Ile66Met
zinc finger protein 3 isoform 3 NP_001358144.1:p.Ile66= NP_001358144.1:p.Ile66Met
ZNF3 transcript variant 10 NM_001318137.2:c.163+2957= NM_001318137.2:c.163+2957T>G
ZNF3 transcript variant 14 NM_001371210.1:c.271+2957= NM_001371210.1:c.271+2957T>G
ZNF3 transcript variant 1 NM_017715.3:c.271+2957= NM_017715.3:c.271+2957T>G
ZNF3 transcript variant 1 NM_017715.4:c.271+2957= NM_017715.4:c.271+2957T>G
ZNF3 transcript variant X7 XM_047420802.1:c.271+2957= XM_047420802.1:c.271+2957T>G
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 ss2736604208 Nov 08, 2017 (151)
2 gnomAD - Exomes NC_000007.13 - 99669801 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
5768904, ss2736604208 NC_000007.13:99669800:A:C NC_000007.14:100072177:A: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 rs1455345609

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