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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.

rs2136440243

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr10:97759371 (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
C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
None
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ZFYVE27 : Non Coding Transcript 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").

None
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.97759371C>T
GRCh37.p13 chr 10 NC_000010.10:g.99519128C>T
ZFYVE27 RefSeqGene NG_017075.1:g.27251C>T
Gene: ZFYVE27, zinc finger FYVE-type containing 27 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
ZFYVE27 transcript variant 2 NM_144588.7:c.*71= N/A 3 Prime UTR Variant
ZFYVE27 transcript variant 3 NM_001002262.4:c.*71= N/A 3 Prime UTR Variant
ZFYVE27 transcript variant 10 NM_001385876.1:c.*71= N/A 3 Prime UTR Variant
ZFYVE27 transcript variant 36 NM_001385902.1:c.*71= N/A 3 Prime UTR Variant
ZFYVE27 transcript variant 46 NM_001385918.1:c.*71= N/A 3 Prime UTR Variant
ZFYVE27 transcript variant 25 NM_001385891.1:c.*71= N/A 3 Prime UTR Variant
ZFYVE27 transcript variant 44 NM_001385916.1:c.*71= N/A 3 Prime UTR Variant
ZFYVE27 transcript variant 28 NM_001385894.1:c.*71= N/A 3 Prime UTR Variant
ZFYVE27 transcript variant 15 NM_001385881.1:c.*71= N/A 3 Prime UTR Variant
ZFYVE27 transcript variant 32 NM_001385898.1:c.*71= N/A 3 Prime UTR Variant
ZFYVE27 transcript variant 4 NM_001174119.2:c.*71= N/A 3 Prime UTR Variant
ZFYVE27 transcript variant 21 NM_001385887.1:c.*71= N/A 3 Prime UTR Variant
ZFYVE27 transcript variant 47 NM_001385919.1:c.*71= N/A 3 Prime UTR Variant
ZFYVE27 transcript variant 29 NM_001385895.1:c.*71= N/A 3 Prime UTR Variant
ZFYVE27 transcript variant 22 NM_001385888.1:c.*71= N/A 3 Prime UTR Variant
ZFYVE27 transcript variant 6 NM_001174121.2:c.*71= N/A 3 Prime UTR Variant
ZFYVE27 transcript variant 11 NM_001385877.1:c.*71= N/A 3 Prime UTR Variant
ZFYVE27 transcript variant 38 NM_001385904.1:c.*71= N/A 3 Prime UTR Variant
ZFYVE27 transcript variant 27 NM_001385893.1:c.*71= N/A 3 Prime UTR Variant
ZFYVE27 transcript variant 8 NM_001385871.1:c.*71= N/A 3 Prime UTR Variant
ZFYVE27 transcript variant 30 NM_001385896.1:c.*71= N/A 3 Prime UTR Variant
ZFYVE27 transcript variant 19 NM_001385885.1:c.*71= N/A 3 Prime UTR Variant
ZFYVE27 transcript variant 42 NM_001385911.1:c.*71= N/A 3 Prime UTR Variant
ZFYVE27 transcript variant 34 NM_001385900.1:c.*71= N/A 3 Prime UTR Variant
ZFYVE27 transcript variant 24 NM_001385890.1:c.*71= N/A 3 Prime UTR Variant
ZFYVE27 transcript variant 26 NM_001385892.1:c.*71= N/A 3 Prime UTR Variant
ZFYVE27 transcript variant 20 NM_001385886.1:c.*71= N/A 3 Prime UTR Variant
ZFYVE27 transcript variant 35 NM_001385901.1:c.*71= N/A 3 Prime UTR Variant
ZFYVE27 transcript variant 23 NM_001385889.1:c.*71= N/A 3 Prime UTR Variant
ZFYVE27 transcript variant 31 NM_001385897.1:c.*71= N/A 3 Prime UTR Variant
ZFYVE27 transcript variant 7 NM_001174122.2:c.*71= N/A 3 Prime UTR Variant
ZFYVE27 transcript variant 43 NM_001385915.1:c.*71= N/A 3 Prime UTR Variant
ZFYVE27 transcript variant 41 NM_001385908.1:c.*71= N/A 3 Prime UTR Variant
ZFYVE27 transcript variant 14 NM_001385880.1:c.*71= N/A 3 Prime UTR Variant
ZFYVE27 transcript variant 5 NM_001174120.2:c.*71= N/A 3 Prime UTR Variant
ZFYVE27 transcript variant 1 NM_001002261.4:c.*71= N/A 3 Prime UTR Variant
ZFYVE27 transcript variant 9 NM_001385875.1:c.*71= N/A 3 Prime UTR Variant
ZFYVE27 transcript variant 13 NM_001385879.1:c.*71= N/A 3 Prime UTR Variant
ZFYVE27 transcript variant 37 NM_001385903.1:c.*71= N/A 3 Prime UTR Variant
ZFYVE27 transcript variant 39 NM_001385905.1:c.*71= N/A 3 Prime UTR Variant
ZFYVE27 transcript variant 12 NM_001385878.1:c.*71= N/A 3 Prime UTR Variant
ZFYVE27 transcript variant 40 NM_001385906.1:c.*71= N/A 3 Prime UTR Variant
ZFYVE27 transcript variant 33 NM_001385899.1:c.*71= N/A 3 Prime UTR Variant
ZFYVE27 transcript variant 16 NM_001385882.1:c. N/A Genic Downstream Transcript Variant
ZFYVE27 transcript variant 17 NM_001385883.1:c. N/A Genic Downstream Transcript Variant
ZFYVE27 transcript variant 18 NM_001385884.1:c. N/A Genic Downstream Transcript Variant
ZFYVE27 transcript variant 52 NR_169797.1:n.1268C>T N/A Non Coding Transcript Variant
ZFYVE27 transcript variant 57 NR_169802.1:n.1274C>T N/A Non Coding Transcript Variant
ZFYVE27 transcript variant 60 NR_169805.1:n.1617C>T N/A Non Coding Transcript Variant
ZFYVE27 transcript variant 62 NR_169808.1:n.1513C>T N/A Non Coding Transcript Variant
ZFYVE27 transcript variant 51 NR_169811.1:n.1460C>T N/A Non Coding Transcript Variant
ZFYVE27 transcript variant 64 NR_169810.1:n.1613C>T N/A Non Coding Transcript Variant
ZFYVE27 transcript variant 48 NR_169794.1:n.1477C>T N/A Non Coding Transcript Variant
ZFYVE27 transcript variant 59 NR_169804.1:n.1474C>T N/A Non Coding Transcript Variant
ZFYVE27 transcript variant 56 NR_169801.1:n.1628C>T N/A Non Coding Transcript Variant
ZFYVE27 transcript variant 55 NR_169800.1:n.1060C>T N/A Non Coding Transcript Variant
ZFYVE27 transcript variant 63 NR_169809.1:n.1542C>T N/A Non Coding Transcript Variant
ZFYVE27 transcript variant 54 NR_169799.1:n.1102C>T N/A Non Coding Transcript Variant
ZFYVE27 transcript variant 50 NR_169796.1:n.1566C>T N/A Non Coding Transcript Variant
ZFYVE27 transcript variant 58 NR_169803.1:n.1588C>T N/A Non Coding Transcript Variant
ZFYVE27 transcript variant 53 NR_169798.1:n.1481C>T N/A Non Coding Transcript Variant
ZFYVE27 transcript variant 49 NR_169795.1:n.1414C>T N/A Non Coding Transcript Variant
ZFYVE27 transcript variant 61 NR_169806.1:n.1485C>T N/A Non Coding Transcript Variant
ZFYVE27 transcript variant X7 XM_047424567.1:c.*71= N/A 3 Prime UTR Variant
ZFYVE27 transcript variant X1 XM_011539252.3:c. N/A Genic Downstream Transcript Variant
ZFYVE27 transcript variant X2 XM_011539253.3:c. N/A Genic Downstream Transcript Variant
ZFYVE27 transcript variant X3 XM_017015644.1:c. N/A Genic Downstream Transcript Variant
ZFYVE27 transcript variant X5 XM_017015645.1:c. N/A Genic Downstream Transcript Variant
ZFYVE27 transcript variant X6 XM_017015646.2:c. N/A Genic Downstream Transcript Variant
ZFYVE27 transcript variant X4 XR_945594.3:n. N/A Genic Downstream 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 C= T
GRCh38.p14 chr 10 NC_000010.11:g.97759371= NC_000010.11:g.97759371C>T
GRCh37.p13 chr 10 NC_000010.10:g.99519128= NC_000010.10:g.99519128C>T
ZFYVE27 RefSeqGene NG_017075.1:g.27251= NG_017075.1:g.27251C>T
ZFYVE27 transcript variant 2 NM_144588.7:c.*71= NM_144588.7:c.*71C>T
ZFYVE27 transcript variant 2 NM_144588.6:c.*71= NM_144588.6:c.*71C>T
ZFYVE27 transcript variant 1 NM_001002261.4:c.*71= NM_001002261.4:c.*71C>T
ZFYVE27 transcript variant 1 NM_001002261.3:c.*71= NM_001002261.3:c.*71C>T
ZFYVE27 transcript variant 3 NM_001002262.4:c.*71= NM_001002262.4:c.*71C>T
ZFYVE27 transcript variant 3 NM_001002262.3:c.*71= NM_001002262.3:c.*71C>T
ZFYVE27 transcript variant 4 NM_001174119.2:c.*71= NM_001174119.2:c.*71C>T
ZFYVE27 transcript variant 4 NM_001174119.1:c.*71= NM_001174119.1:c.*71C>T
ZFYVE27 transcript variant 6 NM_001174121.2:c.*71= NM_001174121.2:c.*71C>T
ZFYVE27 transcript variant 6 NM_001174121.1:c.*71= NM_001174121.1:c.*71C>T
ZFYVE27 transcript variant 5 NM_001174120.2:c.*71= NM_001174120.2:c.*71C>T
ZFYVE27 transcript variant 5 NM_001174120.1:c.*71= NM_001174120.1:c.*71C>T
ZFYVE27 transcript variant 7 NM_001174122.2:c.*71= NM_001174122.2:c.*71C>T
ZFYVE27 transcript variant 7 NM_001174122.1:c.*71= NM_001174122.1:c.*71C>T
ZFYVE27 transcript variant 56 NR_169801.1:n.1628= NR_169801.1:n.1628C>T
ZFYVE27 transcript variant 60 NR_169805.1:n.1617= NR_169805.1:n.1617C>T
ZFYVE27 transcript variant 64 NR_169810.1:n.1613= NR_169810.1:n.1613C>T
ZFYVE27 transcript variant 58 NR_169803.1:n.1588= NR_169803.1:n.1588C>T
ZFYVE27 transcript variant 50 NR_169796.1:n.1566= NR_169796.1:n.1566C>T
ZFYVE27 transcript variant 63 NR_169809.1:n.1542= NR_169809.1:n.1542C>T
ZFYVE27 transcript variant 10 NM_001385876.1:c.*71= NM_001385876.1:c.*71C>T
ZFYVE27 transcript variant 8 NM_001385871.1:c.*71= NM_001385871.1:c.*71C>T
ZFYVE27 transcript variant 62 NR_169808.1:n.1513= NR_169808.1:n.1513C>T
ZFYVE27 transcript variant 9 NM_001385875.1:c.*71= NM_001385875.1:c.*71C>T
ZFYVE27 transcript variant 13 NM_001385879.1:c.*71= NM_001385879.1:c.*71C>T
ZFYVE27 transcript variant 11 NM_001385877.1:c.*71= NM_001385877.1:c.*71C>T
ZFYVE27 transcript variant 24 NM_001385890.1:c.*71= NM_001385890.1:c.*71C>T
ZFYVE27 transcript variant 12 NM_001385878.1:c.*71= NM_001385878.1:c.*71C>T
ZFYVE27 transcript variant 61 NR_169806.1:n.1485= NR_169806.1:n.1485C>T
ZFYVE27 transcript variant 53 NR_169798.1:n.1481= NR_169798.1:n.1481C>T
ZFYVE27 transcript variant 15 NM_001385881.1:c.*71= NM_001385881.1:c.*71C>T
ZFYVE27 transcript variant 14 NM_001385880.1:c.*71= NM_001385880.1:c.*71C>T
ZFYVE27 transcript variant 48 NR_169794.1:n.1477= NR_169794.1:n.1477C>T
ZFYVE27 transcript variant 29 NM_001385895.1:c.*71= NM_001385895.1:c.*71C>T
ZFYVE27 transcript variant 59 NR_169804.1:n.1474= NR_169804.1:n.1474C>T
ZFYVE27 transcript variant 27 NM_001385893.1:c.*71= NM_001385893.1:c.*71C>T
ZFYVE27 transcript variant 51 NR_169811.1:n.1460= NR_169811.1:n.1460C>T
ZFYVE27 transcript variant 31 NM_001385897.1:c.*71= NM_001385897.1:c.*71C>T
ZFYVE27 transcript variant 32 NM_001385898.1:c.*71= NM_001385898.1:c.*71C>T
ZFYVE27 transcript variant 33 NM_001385899.1:c.*71= NM_001385899.1:c.*71C>T
ZFYVE27 transcript variant 34 NM_001385900.1:c.*71= NM_001385900.1:c.*71C>T
ZFYVE27 transcript variant 37 NM_001385903.1:c.*71= NM_001385903.1:c.*71C>T
ZFYVE27 transcript variant 38 NM_001385904.1:c.*71= NM_001385904.1:c.*71C>T
ZFYVE27 transcript variant 19 NM_001385885.1:c.*71= NM_001385885.1:c.*71C>T
ZFYVE27 transcript variant 49 NR_169795.1:n.1414= NR_169795.1:n.1414C>T
ZFYVE27 transcript variant 39 NM_001385905.1:c.*71= NM_001385905.1:c.*71C>T
ZFYVE27 transcript variant 22 NM_001385888.1:c.*71= NM_001385888.1:c.*71C>T
ZFYVE27 transcript variant 43 NM_001385915.1:c.*71= NM_001385915.1:c.*71C>T
ZFYVE27 transcript variant 21 NM_001385887.1:c.*71= NM_001385887.1:c.*71C>T
ZFYVE27 transcript variant 20 NM_001385886.1:c.*71= NM_001385886.1:c.*71C>T
ZFYVE27 transcript variant 23 NM_001385889.1:c.*71= NM_001385889.1:c.*71C>T
ZFYVE27 transcript variant 25 NM_001385891.1:c.*71= NM_001385891.1:c.*71C>T
ZFYVE27 transcript variant 44 NM_001385916.1:c.*71= NM_001385916.1:c.*71C>T
ZFYVE27 transcript variant 26 NM_001385892.1:c.*71= NM_001385892.1:c.*71C>T
ZFYVE27 transcript variant 28 NM_001385894.1:c.*71= NM_001385894.1:c.*71C>T
ZFYVE27 transcript variant 30 NM_001385896.1:c.*71= NM_001385896.1:c.*71C>T
ZFYVE27 transcript variant 57 NR_169802.1:n.1274= NR_169802.1:n.1274C>T
ZFYVE27 transcript variant 52 NR_169797.1:n.1268= NR_169797.1:n.1268C>T
ZFYVE27 transcript variant 36 NM_001385902.1:c.*71= NM_001385902.1:c.*71C>T
ZFYVE27 transcript variant 35 NM_001385901.1:c.*71= NM_001385901.1:c.*71C>T
ZFYVE27 transcript variant 41 NM_001385908.1:c.*71= NM_001385908.1:c.*71C>T
ZFYVE27 transcript variant 40 NM_001385906.1:c.*71= NM_001385906.1:c.*71C>T
ZFYVE27 transcript variant 42 NM_001385911.1:c.*71= NM_001385911.1:c.*71C>T
ZFYVE27 transcript variant 46 NM_001385918.1:c.*71= NM_001385918.1:c.*71C>T
ZFYVE27 transcript variant 54 NR_169799.1:n.1102= NR_169799.1:n.1102C>T
ZFYVE27 transcript variant 55 NR_169800.1:n.1060= NR_169800.1:n.1060C>T
ZFYVE27 transcript variant 47 NM_001385919.1:c.*71= NM_001385919.1:c.*71C>T
ZFYVE27 transcript variant 45 NM_001385917.1:c.*71= NM_001385917.1:c.*71C>T
ZFYVE27 transcript variant X7 XM_047424567.1:c.*71= XM_047424567.1:c.*71C>T
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 submission
No Submitter Submission ID Date (Build)
1 EVA ss5395452586 Oct 16, 2022 (156)
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
ss5395452586 NC_000010.10:99519127:C:T NC_000010.11:97759370:C:T
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 rs2136440243

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