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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 Aliases 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.


Current Build 153

Released July 9, 2019

Homo sapiens
chr17:4250323-4250332 (GRCh38.p12) 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.

Variation Type
Indel Insertion and Deletion
delTCAAA=0.00003 (4/125568, TOPMED)
delTCAAA=0.0016 (49/31402, GnomAD)
delTCAAA=0.000 (1/4480, Estonian) (+ 1 more)
delTCAAA=0.00 (2/600, NorthernSweden)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ANKFY1 : Intron Variant
0 citations
Genomic View
See rs on genome

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.p12 chr 17 NC_000017.11:g.4250323_4250327TCAAA[1]
GRCh37.p13 chr 17 NC_000017.10:g.4153618_4153622TCAAA[1]
Gene: ANKFY1, ankyrin repeat and FYVE domain containing 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ANKFY1 transcript variant 3 NM_001257999.2:c. N/A Intron Variant
ANKFY1 transcript variant 5 NM_001330063.2:c. N/A Intron Variant
ANKFY1 transcript variant 1 NM_016376.5:c. N/A Intron Variant
ANKFY1 transcript variant 4 NR_047571.2:n. N/A Intron Variant
ANKFY1 transcript variant X2 XM_011523926.1:c. N/A Intron Variant
ANKFY1 transcript variant X1 XM_017024733.1:c. N/A Intron Variant
ANKFY1 transcript variant X6 XM_024450791.1:c. N/A Intron Variant
ANKFY1 transcript variant X3 XM_011523928.2:c. N/A Genic Upstream Transcript Variant
ANKFY1 transcript variant X5 XM_011523933.1:c. N/A Genic Upstream Transcript Variant
ANKFY1 transcript variant X4 XR_934043.2:n. N/A Intron Variant

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

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").

Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 125568 -

No frequency provided

gnomAD - Genomes Global Study-wide 31402 -

No frequency provided

gnomAD - Genomes European Sub 18904 -

No frequency provided

gnomAD - Genomes African Sub 8712 -

No frequency provided

gnomAD - Genomes East Asian Sub 1560 -

No frequency provided

gnomAD - Genomes Other Sub 1088 -

No frequency provided

gnomAD - Genomes American Sub 848 -

No frequency provided

gnomAD - Genomes Ashkenazi Jewish Sub 290 -

No frequency provided

Genetic variation in the Estonian population Estonian Study-wide 4480 -

No frequency provided

Northern Sweden ACPOP Study-wide 600 -

No frequency provided


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 (TCAAA)2= delTCAAA Note
GRCh38.p12 chr 17 NC_000017.11:g.4250323_...




GRCh37.p13 chr 17 NC_000017.10:g.4153618_...





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#.

7 SubSNP, 4 Frequency submissions
No Submitter Submission ID Date (Build)
1 TOPMED ss2379946529 Dec 20, 2016 (150)
2 GNOMAD ss2947133671 Nov 08, 2017 (151)
3 SWEGEN ss3015110442 Nov 08, 2017 (151)
4 TOPMED ss3255999890 Nov 08, 2017 (151)
5 EGCUT_WGS ss3682078178 Jul 13, 2019 (153)
6 EVA_DECODE ss3699982380 Jul 13, 2019 (153)
7 ACPOP ss3741827217 Jul 13, 2019 (153)
8 Genetic variation in the Estonian population NC_000017.10 - 4153618 Oct 12, 2018 (152)
9 gnomAD - Genomes NC_000017.10 - 4153618 Jul 13, 2019 (153)
10 Northern Sweden NC_000017.10 - 4153618 Jul 13, 2019 (153)
11 TopMed NC_000017.11 - 4250323 Oct 12, 2018 (152)

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
27816426, 193510361, 15112082, ss2379946529, ss2947133671, ss3015110442, ss3682078178, ss3741827217 NC_000017.10:4153617:TCAAA: NC_000017.11:4250322:TCAAATCAAA:TC…


151842885, ss3255999890, ss3699982380 NC_000017.11:4250322:TCAAA: NC_000017.11:4250322:TCAAATCAAA:TC…



Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs940230880

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.post288+114f6e8