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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.

rs1466094889

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr10:45626070 (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=0.000008 (2/264690, TOPMED)
C=0.00000 (0/14050, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ZFAND4 : 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=1.00000 C=0.00000 1.0 0.0 0.0 N/A
European Sub 9690 T=1.0000 C=0.0000 1.0 0.0 0.0 N/A
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=0.999992 C=0.000008
Allele Frequency Aggregator Total Global 14050 T=1.00000 C=0.00000
Allele Frequency Aggregator European Sub 9690 T=1.0000 C=0.0000
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 10 NC_000010.11:g.45626070T>C
GRCh37.p13 chr 10 NC_000010.10:g.46121518T>C
Gene: ZFAND4, zinc finger AN1-type containing 4 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ZFAND4 transcript variant 4 NM_001282906.1:c.1531A>G T [ACA] > A [GCA] Coding Sequence Variant
AN1-type zinc finger protein 4 isoform b NP_001269835.1:p.Thr511Ala T (Thr) > A (Ala) Missense Variant
ZFAND4 transcript variant 2 NM_001128324.2:c.1753A>G T [ACA] > A [GCA] Coding Sequence Variant
AN1-type zinc finger protein 4 isoform a NP_001121796.1:p.Thr585Ala T (Thr) > A (Ala) Missense Variant
ZFAND4 transcript variant 3 NM_001282905.1:c.1531A>G T [ACA] > A [GCA] Coding Sequence Variant
AN1-type zinc finger protein 4 isoform b NP_001269834.1:p.Thr511Ala T (Thr) > A (Ala) Missense Variant
ZFAND4 transcript variant 1 NM_174890.4:c.1753A>G T [ACA] > A [GCA] Coding Sequence Variant
AN1-type zinc finger protein 4 isoform a NP_777550.2:p.Thr585Ala T (Thr) > A (Ala) Missense Variant
ZFAND4 transcript variant 5 NR_104256.2:n. N/A Genic Downstream Transcript Variant
ZFAND4 transcript variant X19 XM_047426018.1:c.718-7810…

XM_047426018.1:c.718-7810A>G

 		N/A Intron Variant
ZFAND4 transcript variant X1 XM_047426008.1:c.1939A>G T [ACA] > A [GCA] Coding Sequence Variant
AN1-type zinc finger protein 4 isoform X1 XP_047281964.1:p.Thr647Ala T (Thr) > A (Ala) Missense Variant
ZFAND4 transcript variant X2 XM_047426009.1:c.1921A>G T [ACA] > A [GCA] Coding Sequence Variant
AN1-type zinc finger protein 4 isoform X2 XP_047281965.1:p.Thr641Ala T (Thr) > A (Ala) Missense Variant
ZFAND4 transcript variant X3 XM_017016931.2:c.1795A>G T [ACA] > A [GCA] Coding Sequence Variant
AN1-type zinc finger protein 4 isoform X3 XP_016872420.1:p.Thr599Ala T (Thr) > A (Ala) Missense Variant
ZFAND4 transcript variant X4 XM_011540366.3:c.1777A>G T [ACA] > A [GCA] Coding Sequence Variant
AN1-type zinc finger protein 4 isoform X4 XP_011538668.1:p.Thr593Ala T (Thr) > A (Ala) Missense Variant
ZFAND4 transcript variant X5 XM_017016933.3:c.1771A>G T [ACA] > A [GCA] Coding Sequence Variant
AN1-type zinc finger protein 4 isoform X5 XP_016872422.1:p.Thr591Ala T (Thr) > A (Ala) Missense Variant
ZFAND4 transcript variant X6 XM_047426010.1:c.1771A>G T [ACA] > A [GCA] Coding Sequence Variant
AN1-type zinc finger protein 4 isoform X5 XP_047281966.1:p.Thr591Ala T (Thr) > A (Ala) Missense Variant
ZFAND4 transcript variant X7 XM_047426011.1:c.1771A>G T [ACA] > A [GCA] Coding Sequence Variant
AN1-type zinc finger protein 4 isoform X5 XP_047281967.1:p.Thr591Ala T (Thr) > A (Ala) Missense Variant
ZFAND4 transcript variant X8 XM_047426012.1:c.1771A>G T [ACA] > A [GCA] Coding Sequence Variant
AN1-type zinc finger protein 4 isoform X5 XP_047281968.1:p.Thr591Ala T (Thr) > A (Ala) Missense Variant
ZFAND4 transcript variant X10 XM_017016935.2:c.1939A>G T [ACA] > A [GCA] Coding Sequence Variant
AN1-type zinc finger protein 4 isoform X6 XP_016872424.2:p.Thr647Ala T (Thr) > A (Ala) Missense Variant
ZFAND4 transcript variant X11 XM_047426013.1:c.1921A>G T [ACA] > A [GCA] Coding Sequence Variant
AN1-type zinc finger protein 4 isoform X7 XP_047281969.1:p.Thr641Ala T (Thr) > A (Ala) Missense Variant
ZFAND4 transcript variant X12 XM_017016939.3:c.1609A>G T [ACA] > A [GCA] Coding Sequence Variant
AN1-type zinc finger protein 4 isoform X8 XP_016872428.1:p.Thr537Ala T (Thr) > A (Ala) Missense Variant
ZFAND4 transcript variant X13 XM_047426014.1:c.1609A>G T [ACA] > A [GCA] Coding Sequence Variant
AN1-type zinc finger protein 4 isoform X8 XP_047281970.1:p.Thr537Ala T (Thr) > A (Ala) Missense Variant
ZFAND4 transcript variant X14 XM_017016940.3:c.1549A>G T [ACA] > A [GCA] Coding Sequence Variant
AN1-type zinc finger protein 4 isoform X9 XP_016872429.1:p.Thr517Ala T (Thr) > A (Ala) Missense Variant
ZFAND4 transcript variant X15 XM_047426015.1:c.1753A>G T [ACA] > A [GCA] Coding Sequence Variant
AN1-type zinc finger protein 4 isoform X10 XP_047281971.1:p.Thr585Ala T (Thr) > A (Ala) Missense Variant
ZFAND4 transcript variant X16 XM_047426016.1:c.1474A>G T [ACA] > A [GCA] Coding Sequence Variant
AN1-type zinc finger protein 4 isoform X11 XP_047281972.1:p.Thr492Ala T (Thr) > A (Ala) Missense Variant
ZFAND4 transcript variant X17 XM_047426017.1:c.1771A>G T [ACA] > A [GCA] Coding Sequence Variant
AN1-type zinc finger protein 4 isoform X5 XP_047281973.1:p.Thr591Ala T (Thr) > A (Ala) Missense Variant
ZFAND4 transcript variant X18 XM_011540368.2:c.1237A>G T [ACA] > A [GCA] Coding Sequence Variant
AN1-type zinc finger protein 4 isoform X12 XP_011538670.1:p.Thr413Ala T (Thr) > A (Ala) Missense Variant
ZFAND4 transcript variant X9 XR_001747259.2:n.2649A>G 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 10 NC_000010.11:g.45626070= NC_000010.11:g.45626070T>C
GRCh37.p13 chr 10 NC_000010.10:g.46121518= NC_000010.10:g.46121518T>C
ZFAND4 transcript variant 1 NM_174890.4:c.1753= NM_174890.4:c.1753A>G
ZFAND4 transcript variant 1 NM_174890.3:c.1753= NM_174890.3:c.1753A>G
ZFAND4 transcript variant 1 NM_174890.2:c.1753= NM_174890.2:c.1753A>G
ZFAND4 transcript variant X4 XM_011540366.3:c.1777= XM_011540366.3:c.1777A>G
ZFAND4 transcript variant X2 XM_011540366.2:c.1777= XM_011540366.2:c.1777A>G
ZFAND4 transcript variant X1 XM_011540366.1:c.1777= XM_011540366.1:c.1777A>G
ZFAND4 transcript variant X5 XM_017016933.3:c.1771= XM_017016933.3:c.1771A>G
ZFAND4 transcript variant X4 XM_017016933.2:c.1771= XM_017016933.2:c.1771A>G
ZFAND4 transcript variant X4 XM_017016933.1:c.1771= XM_017016933.1:c.1771A>G
ZFAND4 transcript variant X12 XM_017016939.3:c.1609= XM_017016939.3:c.1609A>G
ZFAND4 transcript variant X12 XM_017016939.2:c.1609= XM_017016939.2:c.1609A>G
ZFAND4 transcript variant X12 XM_017016939.1:c.1609= XM_017016939.1:c.1609A>G
ZFAND4 transcript variant X14 XM_017016940.3:c.1549= XM_017016940.3:c.1549A>G
ZFAND4 transcript variant X13 XM_017016940.2:c.1549= XM_017016940.2:c.1549A>G
ZFAND4 transcript variant X13 XM_017016940.1:c.1549= XM_017016940.1:c.1549A>G
ZFAND4 transcript variant 2 NM_001128324.2:c.1753= NM_001128324.2:c.1753A>G
ZFAND4 transcript variant 2 NM_001128324.1:c.1753= NM_001128324.1:c.1753A>G
ZFAND4 transcript variant X3 XM_017016931.2:c.1795= XM_017016931.2:c.1795A>G
ZFAND4 transcript variant X1 XM_017016931.1:c.1795= XM_017016931.1:c.1795A>G
ZFAND4 transcript variant X9 XR_001747259.2:n.2649= XR_001747259.2:n.2649A>G
ZFAND4 transcript variant X6 XR_001747259.1:n.1785= XR_001747259.1:n.1785A>G
ZFAND4 transcript variant X10 XM_017016935.2:c.1939= XM_017016935.2:c.1939A>G
ZFAND4 transcript variant X8 XM_017016935.1:c.1771= XM_017016935.1:c.1771A>G
ZFAND4 transcript variant X18 XM_011540368.2:c.1237= XM_011540368.2:c.1237A>G
ZFAND4 transcript variant X25 XM_011540368.1:c.1237= XM_011540368.1:c.1237A>G
ZFAND4 transcript variant X1 XM_047426008.1:c.1939= XM_047426008.1:c.1939A>G
ZFAND4 transcript variant X2 XM_047426009.1:c.1921= XM_047426009.1:c.1921A>G
ZFAND4 transcript variant X6 XM_047426010.1:c.1771= XM_047426010.1:c.1771A>G
ZFAND4 transcript variant X7 XM_047426011.1:c.1771= XM_047426011.1:c.1771A>G
ZFAND4 transcript variant 3 NM_001282905.1:c.1531= NM_001282905.1:c.1531A>G
ZFAND4 transcript variant X8 XM_047426012.1:c.1771= XM_047426012.1:c.1771A>G
ZFAND4 transcript variant X13 XM_047426014.1:c.1609= XM_047426014.1:c.1609A>G
ZFAND4 transcript variant 4 NM_001282906.1:c.1531= NM_001282906.1:c.1531A>G
ZFAND4 transcript variant X17 XM_047426017.1:c.1771= XM_047426017.1:c.1771A>G
ZFAND4 transcript variant X16 XM_047426016.1:c.1474= XM_047426016.1:c.1474A>G
ZFAND4 transcript variant X11 XM_047426013.1:c.1921= XM_047426013.1:c.1921A>G
ZFAND4 transcript variant X15 XM_047426015.1:c.1753= XM_047426015.1:c.1753A>G
AN1-type zinc finger protein 4 isoform a NP_777550.2:p.Thr585= NP_777550.2:p.Thr585Ala
AN1-type zinc finger protein 4 isoform X4 XP_011538668.1:p.Thr593= XP_011538668.1:p.Thr593Ala
AN1-type zinc finger protein 4 isoform X5 XP_016872422.1:p.Thr591= XP_016872422.1:p.Thr591Ala
AN1-type zinc finger protein 4 isoform X8 XP_016872428.1:p.Thr537= XP_016872428.1:p.Thr537Ala
AN1-type zinc finger protein 4 isoform X9 XP_016872429.1:p.Thr517= XP_016872429.1:p.Thr517Ala
AN1-type zinc finger protein 4 isoform a NP_001121796.1:p.Thr585= NP_001121796.1:p.Thr585Ala
AN1-type zinc finger protein 4 isoform X3 XP_016872420.1:p.Thr599= XP_016872420.1:p.Thr599Ala
AN1-type zinc finger protein 4 isoform X6 XP_016872424.2:p.Thr647= XP_016872424.2:p.Thr647Ala
AN1-type zinc finger protein 4 isoform X12 XP_011538670.1:p.Thr413= XP_011538670.1:p.Thr413Ala
AN1-type zinc finger protein 4 isoform X1 XP_047281964.1:p.Thr647= XP_047281964.1:p.Thr647Ala
AN1-type zinc finger protein 4 isoform X2 XP_047281965.1:p.Thr641= XP_047281965.1:p.Thr641Ala
AN1-type zinc finger protein 4 isoform X5 XP_047281966.1:p.Thr591= XP_047281966.1:p.Thr591Ala
AN1-type zinc finger protein 4 isoform X5 XP_047281967.1:p.Thr591= XP_047281967.1:p.Thr591Ala
AN1-type zinc finger protein 4 isoform b NP_001269834.1:p.Thr511= NP_001269834.1:p.Thr511Ala
AN1-type zinc finger protein 4 isoform X5 XP_047281968.1:p.Thr591= XP_047281968.1:p.Thr591Ala
AN1-type zinc finger protein 4 isoform X8 XP_047281970.1:p.Thr537= XP_047281970.1:p.Thr537Ala
AN1-type zinc finger protein 4 isoform b NP_001269835.1:p.Thr511= NP_001269835.1:p.Thr511Ala
AN1-type zinc finger protein 4 isoform X5 XP_047281973.1:p.Thr591= XP_047281973.1:p.Thr591Ala
AN1-type zinc finger protein 4 isoform X11 XP_047281972.1:p.Thr492= XP_047281972.1:p.Thr492Ala
AN1-type zinc finger protein 4 isoform X7 XP_047281969.1:p.Thr641= XP_047281969.1:p.Thr641Ala
AN1-type zinc finger protein 4 isoform X10 XP_047281971.1:p.Thr585= XP_047281971.1:p.Thr585Ala
ZFAND4 transcript variant X19 XM_047426018.1:c.718-7810= XM_047426018.1:c.718-7810A>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, 2 Frequency submissions
No Submitter Submission ID Date (Build)
1 TOPMED ss4850875859 Apr 27, 2021 (155)
2 TopMed NC_000010.11 - 45626070 Apr 27, 2021 (155)
3 ALFA NC_000010.11 - 45626070 Apr 27, 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
66421514, 6073828872, ss4850875859 NC_000010.11:45626069:T:C NC_000010.11:45626069: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 rs1466094889

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