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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.

rs14968

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr22:19968911-19968916 (GRCh38.p13) 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
del(T)4 / delTTT / dupT
Variation Type
Indel Insertion and Deletion
Frequency
del(T)4=0.00000 (0/14048, ALFA)
delTTT=0.00000 (0/14048, ALFA)
dupT=0.00000 (0/14048, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ARVCF : Intron Variant
COMT : 3 Prime UTR 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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 14048 TTTTTT=1.00000 TT=0.00000, TTT=0.00000, TTTTTTT=0.00000
European Sub 9690 TTTTTT=1.0000 TT=0.0000, TTT=0.0000, TTTTTTT=0.0000
African Sub 2898 TTTTTT=1.0000 TT=0.0000, TTT=0.0000, TTTTTTT=0.0000
African Others Sub 114 TTTTTT=1.000 TT=0.000, TTT=0.000, TTTTTTT=0.000
African American Sub 2784 TTTTTT=1.0000 TT=0.0000, TTT=0.0000, TTTTTTT=0.0000
Asian Sub 110 TTTTTT=1.000 TT=0.000, TTT=0.000, TTTTTTT=0.000
East Asian Sub 86 TTTTTT=1.00 TT=0.00, TTT=0.00, TTTTTTT=0.00
Other Asian Sub 24 TTTTTT=1.00 TT=0.00, TTT=0.00, TTTTTTT=0.00
Latin American 1 Sub 146 TTTTTT=1.000 TT=0.000, TTT=0.000, TTTTTTT=0.000
Latin American 2 Sub 610 TTTTTT=1.000 TT=0.000, TTT=0.000, TTTTTTT=0.000
South Asian Sub 98 TTTTTT=1.00 TT=0.00, TTT=0.00, TTTTTTT=0.00
Other Sub 496 TTTTTT=1.000 TT=0.000, TTT=0.000, TTTTTTT=0.000


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
Allele Frequency Aggregator Total Global 14048 (T)6=1.00000 del(T)4=0.00000, delTTT=0.00000, dupT=0.00000
Allele Frequency Aggregator European Sub 9690 (T)6=1.0000 del(T)4=0.0000, delTTT=0.0000, dupT=0.0000
Allele Frequency Aggregator African Sub 2898 (T)6=1.0000 del(T)4=0.0000, delTTT=0.0000, dupT=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 (T)6=1.000 del(T)4=0.000, delTTT=0.000, dupT=0.000
Allele Frequency Aggregator Other Sub 496 (T)6=1.000 del(T)4=0.000, delTTT=0.000, dupT=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 (T)6=1.000 del(T)4=0.000, delTTT=0.000, dupT=0.000
Allele Frequency Aggregator Asian Sub 110 (T)6=1.000 del(T)4=0.000, delTTT=0.000, dupT=0.000
Allele Frequency Aggregator South Asian Sub 98 (T)6=1.00 del(T)4=0.00, delTTT=0.00, dupT=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.p13 chr 22 NC_000022.11:g.19968913_19968916del
GRCh38.p13 chr 22 NC_000022.11:g.19968914_19968916del
GRCh38.p13 chr 22 NC_000022.11:g.19968916dup
GRCh37.p13 chr 22 NC_000022.10:g.19956436_19956439del
GRCh37.p13 chr 22 NC_000022.10:g.19956437_19956439del
GRCh37.p13 chr 22 NC_000022.10:g.19956439dup
ARVCF RefSeqGene NG_023326.1:g.52873_52876del
ARVCF RefSeqGene NG_023326.1:g.52874_52876del
ARVCF RefSeqGene NG_023326.1:g.52876dup
COMT RefSeqGene (LRG_1010) NG_011526.1:g.32174_32177del
COMT RefSeqGene (LRG_1010) NG_011526.1:g.32175_32177del
COMT RefSeqGene (LRG_1010) NG_011526.1:g.32177dup
Gene: COMT, catechol-O-methyltransferase (plus strand)
Molecule type Change Amino acid[Codon] SO Term
COMT transcript variant 3 NM_001135162.2:c.*175_*18…

NM_001135162.2:c.*175_*180=

N/A 3 Prime UTR Variant
COMT transcript variant 2 NM_001135161.2:c.*175_*18…

NM_001135161.2:c.*175_*180=

N/A 3 Prime UTR Variant
COMT transcript variant 5 NM_001362828.2:c.*175_*18…

NM_001362828.2:c.*175_*180=

N/A 3 Prime UTR Variant
COMT transcript variant 4 NM_007310.3:c.*175_*180= N/A 3 Prime UTR Variant
COMT transcript variant 1 NM_000754.4:c.*175_*180= N/A 3 Prime UTR Variant
Gene: ARVCF, ARVCF delta catenin family member (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ARVCF transcript variant 1 NM_001670.3:c. N/A Genic Downstream Transcript Variant
ARVCF transcript variant X2 XM_005261242.3:c.2764-170…

XM_005261242.3:c.2764-1705_2764-1702del

N/A Intron Variant
ARVCF transcript variant X1 XM_006724243.3:c.2782-170…

XM_006724243.3:c.2782-1705_2782-1702del

N/A Intron Variant
ARVCF transcript variant X8 XM_006724246.4:c.2536-170…

XM_006724246.4:c.2536-1705_2536-1702del

N/A Intron Variant
ARVCF transcript variant X3 XM_011530179.3:c.2749-170…

XM_011530179.3:c.2749-1705_2749-1702del

N/A Intron Variant
ARVCF transcript variant X17 XM_011530182.3:c.1348-170…

XM_011530182.3:c.1348-1705_1348-1702del

N/A Intron Variant
ARVCF transcript variant X9 XM_024452249.1:c.2536-170…

XM_024452249.1:c.2536-1705_2536-1702del

N/A Intron Variant
ARVCF transcript variant X5 XM_005261243.4:c. N/A Genic Downstream Transcript Variant
ARVCF transcript variant X7 XM_005261244.4:c. N/A Genic Downstream Transcript Variant
ARVCF transcript variant X6 XM_006724245.3:c. N/A Genic Downstream Transcript Variant
ARVCF transcript variant X10 XM_006724247.4:c. N/A Genic Downstream Transcript Variant
ARVCF transcript variant X11 XM_006724248.4:c. N/A Genic Downstream Transcript Variant
ARVCF transcript variant X14 XM_006724249.3:c. N/A Genic Downstream Transcript Variant
ARVCF transcript variant X15 XM_006724250.3:c. N/A Genic Downstream Transcript Variant
ARVCF transcript variant X4 XM_011530180.1:c. N/A Genic Downstream Transcript Variant
ARVCF transcript variant X16 XM_011530181.1:c. N/A Genic Downstream Transcript Variant
ARVCF transcript variant X18 XM_011530183.3:c. N/A Genic Downstream Transcript Variant
ARVCF transcript variant X12 XR_937863.2:n. N/A Genic Downstream Transcript Variant
ARVCF transcript variant X13 XR_937864.1: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 (T)6= del(T)4 delTTT dupT
GRCh38.p13 chr 22 NC_000022.11:g.19968911_19968916= NC_000022.11:g.19968913_19968916del NC_000022.11:g.19968914_19968916del NC_000022.11:g.19968916dup
GRCh37.p13 chr 22 NC_000022.10:g.19956434_19956439= NC_000022.10:g.19956436_19956439del NC_000022.10:g.19956437_19956439del NC_000022.10:g.19956439dup
ARVCF RefSeqGene NG_023326.1:g.52871_52876= NG_023326.1:g.52873_52876del NG_023326.1:g.52874_52876del NG_023326.1:g.52876dup
COMT RefSeqGene (LRG_1010) NG_011526.1:g.32172_32177= NG_011526.1:g.32174_32177del NG_011526.1:g.32175_32177del NG_011526.1:g.32177dup
COMT transcript variant 1 NM_000754.4:c.*175_*180= NM_000754.4:c.*177_*180del NM_000754.4:c.*178_*180del NM_000754.4:c.*180dup
COMT transcript variant 1 NM_000754.3:c.*175_*180= NM_000754.3:c.*177_*180del NM_000754.3:c.*178_*180del NM_000754.3:c.*180dup
COMT transcript variant 4 NM_007310.3:c.*175_*180= NM_007310.3:c.*177_*180del NM_007310.3:c.*178_*180del NM_007310.3:c.*180dup
COMT transcript variant 4 NM_007310.2:c.*175_*180= NM_007310.2:c.*177_*180del NM_007310.2:c.*178_*180del NM_007310.2:c.*180dup
COMT transcript variant 5 NM_001362828.2:c.*175_*180= NM_001362828.2:c.*177_*180del NM_001362828.2:c.*178_*180del NM_001362828.2:c.*180dup
COMT transcript variant 5 NM_001362828.1:c.*175_*180= NM_001362828.1:c.*177_*180del NM_001362828.1:c.*178_*180del NM_001362828.1:c.*180dup
COMT transcript variant 2 NM_001135161.2:c.*175_*180= NM_001135161.2:c.*177_*180del NM_001135161.2:c.*178_*180del NM_001135161.2:c.*180dup
COMT transcript variant 2 NM_001135161.1:c.*175_*180= NM_001135161.1:c.*177_*180del NM_001135161.1:c.*178_*180del NM_001135161.1:c.*180dup
COMT transcript variant 3 NM_001135162.2:c.*175_*180= NM_001135162.2:c.*177_*180del NM_001135162.2:c.*178_*180del NM_001135162.2:c.*180dup
COMT transcript variant 3 NM_001135162.1:c.*175_*180= NM_001135162.1:c.*177_*180del NM_001135162.1:c.*178_*180del NM_001135162.1:c.*180dup
ARVCF transcript variant X2 XM_005261242.1:c.2764-1702= XM_005261242.1:c.2764-1705_2764-1702del XM_005261242.1:c.2764-1704_2764-1702del XM_005261242.1:c.2764-1707dup
ARVCF transcript variant X2 XM_005261242.3:c.2764-1702= XM_005261242.3:c.2764-1705_2764-1702del XM_005261242.3:c.2764-1704_2764-1702del XM_005261242.3:c.2764-1707dup
ARVCF transcript variant X1 XM_006724243.3:c.2782-1702= XM_006724243.3:c.2782-1705_2782-1702del XM_006724243.3:c.2782-1704_2782-1702del XM_006724243.3:c.2782-1707dup
ARVCF transcript variant X8 XM_006724246.4:c.2536-1702= XM_006724246.4:c.2536-1705_2536-1702del XM_006724246.4:c.2536-1704_2536-1702del XM_006724246.4:c.2536-1707dup
ARVCF transcript variant X3 XM_011530179.3:c.2749-1702= XM_011530179.3:c.2749-1705_2749-1702del XM_011530179.3:c.2749-1704_2749-1702del XM_011530179.3:c.2749-1707dup
ARVCF transcript variant X17 XM_011530182.3:c.1348-1702= XM_011530182.3:c.1348-1705_1348-1702del XM_011530182.3:c.1348-1704_1348-1702del XM_011530182.3:c.1348-1707dup
ARVCF transcript variant X9 XM_024452249.1:c.2536-1702= XM_024452249.1:c.2536-1705_2536-1702del XM_024452249.1:c.2536-1704_2536-1702del XM_024452249.1:c.2536-1707dup
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#.

8 SubSNP, 8 Frequency submissions
No Submitter Submission ID Date (Build)
1 TOPMED ss3374062255 Nov 08, 2017 (151)
2 TOPMED ss3374062256 Nov 08, 2017 (151)
3 GNOMAD ss4362567355 Apr 26, 2021 (155)
4 GNOMAD ss4362567356 Apr 26, 2021 (155)
5 GNOMAD ss4362567357 Apr 26, 2021 (155)
6 TOPMED ss5105109620 Apr 26, 2021 (155)
7 TOPMED ss5105109621 Apr 26, 2021 (155)
8 TOPMED ss5105109622 Apr 26, 2021 (155)
9 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 566545146 (NC_000022.11:19968910::T 2/140286)
Row 566545147 (NC_000022.11:19968910:TTT: 1/140286)
Row 566545148 (NC_000022.11:19968910:TTTT: 1/140286)

- Apr 26, 2021 (155)
10 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 566545146 (NC_000022.11:19968910::T 2/140286)
Row 566545147 (NC_000022.11:19968910:TTT: 1/140286)
Row 566545148 (NC_000022.11:19968910:TTTT: 1/140286)

- Apr 26, 2021 (155)
11 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 566545146 (NC_000022.11:19968910::T 2/140286)
Row 566545147 (NC_000022.11:19968910:TTT: 1/140286)
Row 566545148 (NC_000022.11:19968910:TTTT: 1/140286)

- Apr 26, 2021 (155)
12 TopMed

Submission ignored due to conflicting rows:
Row 237444435 (NC_000022.11:19968910::T 2/125568)
Row 237444436 (NC_000022.11:19968910:TTT: 1/125568)

- Oct 12, 2018 (152)
13 TopMed

Submission ignored due to conflicting rows:
Row 380218567 (NC_000022.11:19968910::T 8/264690)
Row 380218568 (NC_000022.11:19968910:TTT: 2/264690)
Row 380218569 (NC_000022.11:19968910:TTTT: 2/264690)

- Apr 26, 2021 (155)
14 TopMed

Submission ignored due to conflicting rows:
Row 380218567 (NC_000022.11:19968910::T 8/264690)
Row 380218568 (NC_000022.11:19968910:TTT: 2/264690)
Row 380218569 (NC_000022.11:19968910:TTTT: 2/264690)

- Apr 26, 2021 (155)
15 TopMed

Submission ignored due to conflicting rows:
Row 380218567 (NC_000022.11:19968910::T 8/264690)
Row 380218568 (NC_000022.11:19968910:TTT: 2/264690)
Row 380218569 (NC_000022.11:19968910:TTTT: 2/264690)

- Apr 26, 2021 (155)
16 ALFA NC_000022.11 - 19968911 Apr 26, 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).

Associated ID History Updated (Build)
rs11544667 Apr 25, 2013 (138)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss4362567357, ss5105109622 NC_000022.11:19968910:TTTT: NC_000022.11:19968910:TTTTTT:TT
931470015 NC_000022.11:19968910:TTTTTT:TT NC_000022.11:19968910:TTTTTT:TT
ss3374062256, ss4362567356, ss5105109621 NC_000022.11:19968910:TTT: NC_000022.11:19968910:TTTTTT:TTT (self)
931470015 NC_000022.11:19968910:TTTTTT:TTT NC_000022.11:19968910:TTTTTT:TTT (self)
ss3374062255, ss4362567355, ss5105109620 NC_000022.11:19968910::T NC_000022.11:19968910:TTTTTT:TTTTT…

NC_000022.11:19968910:TTTTTT:TTTTTTT

(self)
931470015 NC_000022.11:19968910:TTTTTT:TTTTT…

NC_000022.11:19968910:TTTTTT:TTTTTTT

NC_000022.11:19968910:TTTTTT:TTTTT…

NC_000022.11:19968910:TTTTTT:TTTTTTT

(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 rs14968

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.post676+237644a