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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.

rs782144746

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr9:133442452 (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
T=0.000036 (9/251268, GnomAD_exome)
T=0.000007 (1/140306, GnomAD)
T=0.000033 (4/120948, ExAC) (+ 1 more)
T=0.00000 (0/10680, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ADAMTS13 : Synonymous 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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 10680 C=1.00000 T=0.00000
European Sub 6962 C=1.0000 T=0.0000
African Sub 2294 C=1.0000 T=0.0000
African Others Sub 84 C=1.00 T=0.00
African American Sub 2210 C=1.0000 T=0.0000
Asian Sub 108 C=1.000 T=0.000
East Asian Sub 84 C=1.00 T=0.00
Other Asian Sub 24 C=1.00 T=0.00
Latin American 1 Sub 146 C=1.000 T=0.000
Latin American 2 Sub 610 C=1.000 T=0.000
South Asian Sub 94 C=1.00 T=0.00
Other Sub 466 C=1.000 T=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
gnomAD - Exomes Global Study-wide 251268 C=0.999964 T=0.000036
gnomAD - Exomes European Sub 135216 C=1.000000 T=0.000000
gnomAD - Exomes Asian Sub 49006 C=1.00000 T=0.00000
gnomAD - Exomes American Sub 34588 C=0.99974 T=0.00026
gnomAD - Exomes African Sub 16248 C=1.00000 T=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10076 C=1.00000 T=0.00000
gnomAD - Exomes Other Sub 6134 C=1.0000 T=0.0000
gnomAD - Genomes Global Study-wide 140306 C=0.999993 T=0.000007
gnomAD - Genomes European Sub 75970 C=1.00000 T=0.00000
gnomAD - Genomes African Sub 42068 C=1.00000 T=0.00000
gnomAD - Genomes American Sub 13664 C=0.99993 T=0.00007
gnomAD - Genomes Ashkenazi Jewish Sub 3320 C=1.0000 T=0.0000
gnomAD - Genomes East Asian Sub 3132 C=1.0000 T=0.0000
gnomAD - Genomes Other Sub 2152 C=1.0000 T=0.0000
ExAC Global Study-wide 120948 C=0.999967 T=0.000033
ExAC Europe Sub 72960 C=1.00000 T=0.00000
ExAC Asian Sub 25144 C=1.00000 T=0.00000
ExAC American Sub 11570 C=0.99965 T=0.00035
ExAC African Sub 10370 C=1.00000 T=0.00000
ExAC Other Sub 904 C=1.000 T=0.000
Allele Frequency Aggregator Total Global 10680 C=1.00000 T=0.00000
Allele Frequency Aggregator European Sub 6962 C=1.0000 T=0.0000
Allele Frequency Aggregator African Sub 2294 C=1.0000 T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 C=1.000 T=0.000
Allele Frequency Aggregator Other Sub 466 C=1.000 T=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 C=1.000 T=0.000
Allele Frequency Aggregator Asian Sub 108 C=1.000 T=0.000
Allele Frequency Aggregator South Asian Sub 94 C=1.00 T=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 9 NC_000009.12:g.133442452C>T
GRCh37.p13 chr 9 NC_000009.11:g.136307573C>T
ADAMTS13 RefSeqGene (LRG_544) NG_011934.2:g.33114C>T
GRCh38.p14 chr 9 fix patch HG2030_PATCH NW_009646201.1:g.268546C>T
GRCh37.p13 chr 9 fix patch HG79_PATCH NW_003315925.1:g.268546C>T
Gene: ADAMTS13, ADAM metallopeptidase with thrombospondin type 1 motif 13 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
ADAMTS13 transcript variant 2 NM_139027.6:c.2022C>T T [ACC] > T [ACT] Coding Sequence Variant
A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform 2 preproprotein NP_620596.2:p.Thr674= T (Thr) > T (Thr) Synonymous Variant
ADAMTS13 transcript variant 1 NM_139025.5:c.2022C>T T [ACC] > T [ACT] Coding Sequence Variant
A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform 1 preproprotein NP_620594.1:p.Thr674= T (Thr) > T (Thr) Synonymous Variant
ADAMTS13 transcript variant 3 NM_139026.6:c.1929C>T T [ACC] > T [ACT] Coding Sequence Variant
A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform 3 preproprotein NP_620595.1:p.Thr643= T (Thr) > T (Thr) Synonymous Variant
ADAMTS13 transcript variant 4 NR_024514.3:n. N/A Intron Variant
ADAMTS13 transcript variant X9 XM_047422700.1:c.1968+192…

XM_047422700.1:c.1968+1927C>T

N/A Intron Variant
ADAMTS13 transcript variant X7 XM_011518179.1:c.687C>T T [ACC] > T [ACT] Coding Sequence Variant
A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X7 XP_011516481.1:p.Thr229= T (Thr) > T (Thr) Synonymous Variant
ADAMTS13 transcript variant X5 XM_017014234.2:c.1032C>T T [ACC] > T [ACT] Coding Sequence Variant
A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X5 XP_016869723.1:p.Thr344= T (Thr) > T (Thr) Synonymous Variant
ADAMTS13 transcript variant X1 XM_017014232.2:c.2010C>T T [ACC] > T [ACT] Coding Sequence Variant
A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X1 XP_016869721.1:p.Thr670= T (Thr) > T (Thr) Synonymous Variant
ADAMTS13 transcript variant X2 XM_047422699.1:c.2097C>T T [ACC] > T [ACT] Coding Sequence Variant
A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X2 XP_047278655.1:p.Thr699= T (Thr) > T (Thr) Synonymous Variant
ADAMTS13 transcript variant X3 XM_017014233.2:c.1632C>T T [ACC] > T [ACT] Coding Sequence Variant
A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X3 XP_016869722.1:p.Thr544= T (Thr) > T (Thr) Synonymous Variant
ADAMTS13 transcript variant X4 XM_011518176.4:c.1038C>T T [ACC] > T [ACT] Coding Sequence Variant
A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X4 XP_011516478.1:p.Thr346= T (Thr) > T (Thr) Synonymous Variant
ADAMTS13 transcript variant X6 XM_011518178.3:c.687C>T T [ACC] > T [ACT] Coding Sequence Variant
A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X6 XP_011516480.1:p.Thr229= T (Thr) > T (Thr) Synonymous Variant
ADAMTS13 transcript variant X8 XM_017014235.2:c.2022C>T T [ACC] > T [ACT] Coding Sequence Variant
A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X8 XP_016869724.1:p.Thr674= T (Thr) > T (Thr) Synonymous 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 9 NC_000009.12:g.133442452= NC_000009.12:g.133442452C>T
GRCh37.p13 chr 9 NC_000009.11:g.136307573= NC_000009.11:g.136307573C>T
ADAMTS13 RefSeqGene (LRG_544) NG_011934.2:g.33114= NG_011934.2:g.33114C>T
ADAMTS13 transcript variant 2 NM_139027.6:c.2022= NM_139027.6:c.2022C>T
ADAMTS13 transcript variant 2 NM_139027.5:c.2022= NM_139027.5:c.2022C>T
ADAMTS13 transcript variant 2 NM_139027.4:c.2022= NM_139027.4:c.2022C>T
ADAMTS13 transcript variant 3 NM_139026.6:c.1929= NM_139026.6:c.1929C>T
ADAMTS13 transcript variant 3 NM_139026.5:c.1929= NM_139026.5:c.1929C>T
ADAMTS13 transcript variant 3 NM_139026.4:c.1929= NM_139026.4:c.1929C>T
ADAMTS13 transcript variant 1 NM_139025.5:c.2022= NM_139025.5:c.2022C>T
ADAMTS13 transcript variant 1 NM_139025.4:c.2022= NM_139025.4:c.2022C>T
GRCh38.p14 chr 9 fix patch HG2030_PATCH NW_009646201.1:g.268546= NW_009646201.1:g.268546C>T
GRCh37.p13 chr 9 fix patch HG79_PATCH NW_003315925.1:g.268546= NW_003315925.1:g.268546C>T
ADAMTS13 transcript variant X1 XM_017014232.2:c.2010= XM_017014232.2:c.2010C>T
ADAMTS13 transcript variant X1 XM_017014232.1:c.2010= XM_017014232.1:c.2010C>T
ADAMTS13 transcript variant X4 XM_011518176.4:c.1038= XM_011518176.4:c.1038C>T
ADAMTS13 transcript variant X3 XM_011518176.3:c.1038= XM_011518176.3:c.1038C>T
ADAMTS13 transcript variant X3 XM_011518176.2:c.1038= XM_011518176.2:c.1038C>T
ADAMTS13 transcript variant X3 XM_011518176.1:c.1038= XM_011518176.1:c.1038C>T
ADAMTS13 transcript variant X2 XM_047422699.1:c.2097= XM_047422699.1:c.2097C>T
ADAMTS13 transcript variant X7 XM_011518179.1:c.687= XM_011518179.1:c.687C>T
ADAMTS13 transcript variant X6 XM_011518178.3:c.687= XM_011518178.3:c.687C>T
ADAMTS13 transcript variant X5 XM_011518178.2:c.687= XM_011518178.2:c.687C>T
ADAMTS13 transcript variant X5 XM_011518178.1:c.687= XM_011518178.1:c.687C>T
ADAMTS13 transcript NM_017587.2:c.2022= NM_017587.2:c.2022C>T
ADAMTS13 transcript variant X3 XM_017014233.2:c.1632= XM_017014233.2:c.1632C>T
ADAMTS13 transcript variant X2 XM_017014233.1:c.1632= XM_017014233.1:c.1632C>T
ADAMTS13 transcript variant X5 XM_017014234.2:c.1032= XM_017014234.2:c.1032C>T
ADAMTS13 transcript variant X4 XM_017014234.1:c.1032= XM_017014234.1:c.1032C>T
ADAMTS13 transcript variant X8 XM_017014235.2:c.2022= XM_017014235.2:c.2022C>T
ADAMTS13 transcript variant X7 XM_017014235.1:c.2022= XM_017014235.1:c.2022C>T
A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform 2 preproprotein NP_620596.2:p.Thr674= NP_620596.2:p.Thr674=
A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform 3 preproprotein NP_620595.1:p.Thr643= NP_620595.1:p.Thr643=
A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform 1 preproprotein NP_620594.1:p.Thr674= NP_620594.1:p.Thr674=
A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X1 XP_016869721.1:p.Thr670= XP_016869721.1:p.Thr670=
A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X4 XP_011516478.1:p.Thr346= XP_011516478.1:p.Thr346=
A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X2 XP_047278655.1:p.Thr699= XP_047278655.1:p.Thr699=
A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X7 XP_011516481.1:p.Thr229= XP_011516481.1:p.Thr229=
A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X6 XP_011516480.1:p.Thr229= XP_011516480.1:p.Thr229=
A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X3 XP_016869722.1:p.Thr544= XP_016869722.1:p.Thr544=
A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X5 XP_016869723.1:p.Thr344= XP_016869723.1:p.Thr344=
A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X8 XP_016869724.1:p.Thr674= XP_016869724.1:p.Thr674=
ADAMTS13 transcript variant X9 XM_047422700.1:c.1968+1927= XM_047422700.1:c.1968+1927C>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#.

5 SubSNP, 4 Frequency submissions
No Submitter Submission ID Date (Build)
1 EVA_EXAC ss1689724390 Apr 09, 2015 (144)
2 GNOMAD ss2737974587 Oct 12, 2018 (152)
3 GNOMAD ss2748299922 Oct 12, 2018 (152)
4 GNOMAD ss2884034194 Oct 12, 2018 (152)
5 GNOMAD ss4210691723 Apr 26, 2021 (155)
6 ExAC NC_000009.11 - 136307573 Oct 12, 2018 (152)
7 gnomAD - Genomes NC_000009.12 - 133442452 Apr 26, 2021 (155)
8 gnomAD - Exomes NC_000009.11 - 136307573 Jul 13, 2019 (153)
9 ALFA NC_000009.12 - 133442452 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
9865143, 7164869, ss1689724390, ss2737974587, ss2748299922, ss2884034194 NC_000009.11:136307572:C:T NC_000009.12:133442451:C:T (self)
339740365, 13859442121, ss4210691723 NC_000009.12:133442451:C:T NC_000009.12:133442451:C:T (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 rs782144746

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.post761+d5e8e07