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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.

rs782744649

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr9:133430165-133430169 (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
delCC / dupC
Variation Type
Indel Insertion and Deletion
Frequency
delCC=0.000007 (1/135182, GnomAD_exome)
dupC=0.00000 (0/15440, ExAC)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ADAMTS13 : Frameshift 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").

Download
Study Population Group Sample Size Ref Allele Alt Allele
gnomAD - Exomes Global Study-wide 135182 (C)5=0.999993 delCC=0.000007
gnomAD - Exomes European Sub 57224 (C)5=1.00000 delCC=0.00000
gnomAD - Exomes Asian Sub 33748 (C)5=0.99997 delCC=0.00003
gnomAD - Exomes American Sub 24758 (C)5=1.00000 delCC=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 8256 (C)5=1.0000 delCC=0.0000
gnomAD - Exomes African Sub 7012 (C)5=1.0000 delCC=0.0000
gnomAD - Exomes Other Sub 4184 (C)5=1.0000 delCC=0.0000
ExAC Global Study-wide 15440 -

No frequency provided

dupC=0.00000
ExAC Asian Sub 8390 -

No frequency provided

dupC=0.0000
ExAC Europe Sub 5524 -

No frequency provided

dupC=0.0000
ExAC African Sub 908 -

No frequency provided

dupC=0.000
ExAC American Sub 450 -

No frequency provided

dupC=0.000
ExAC Other Sub 168 -

No frequency provided

dupC=0.000
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.133430168_133430169del
GRCh38.p14 chr 9 NC_000009.12:g.133430169dup
GRCh37.p13 chr 9 NC_000009.11:g.136295288_136295289del
GRCh37.p13 chr 9 NC_000009.11:g.136295289dup
ADAMTS13 RefSeqGene (LRG_544) NG_011934.2:g.20830_20831del
ADAMTS13 RefSeqGene (LRG_544) NG_011934.2:g.20831dup
GRCh38.p14 chr 9 fix patch HG2030_PATCH NW_009646201.1:g.256262_256263del
GRCh38.p14 chr 9 fix patch HG2030_PATCH NW_009646201.1:g.256263dup
GRCh37.p13 chr 9 fix patch HG79_PATCH NW_003315925.1:g.256262_256263del
GRCh37.p13 chr 9 fix patch HG79_PATCH NW_003315925.1:g.256263dup
Gene: ADAMTS13, ADAM metallopeptidase with thrombospondin type 1 motif 13 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
ADAMTS13 transcript variant 1 NM_139025.5:c.987+67_987+…

NM_139025.5:c.987+67_987+68del

N/A Intron Variant
ADAMTS13 transcript variant 3 NM_139026.6:c.894+67_894+…

NM_139026.6:c.894+67_894+68del

N/A Intron Variant
ADAMTS13 transcript variant 2 NM_139027.6:c.987+67_987+…

NM_139027.6:c.987+67_987+68del

N/A Intron Variant
ADAMTS13 transcript variant 4 NR_024514.3:n. N/A Intron Variant
ADAMTS13 transcript variant X1 XM_017014232.2:c.975+67_9…

XM_017014232.2:c.975+67_975+68del

N/A Intron Variant
ADAMTS13 transcript variant X3 XM_017014233.2:c.597+67_5…

XM_017014233.2:c.597+67_597+68del

N/A Intron Variant
ADAMTS13 transcript variant X5 XM_017014234.2:c.-3-2420_…

XM_017014234.2:c.-3-2420_-3-2419del

N/A Intron Variant
ADAMTS13 transcript variant X8 XM_017014235.2:c.987+67_9…

XM_017014235.2:c.987+67_987+68del

N/A Intron Variant
ADAMTS13 transcript variant X9 XM_047422700.1:c.987+67_9…

XM_047422700.1:c.987+67_987+68del

N/A Intron Variant
ADAMTS13 transcript variant X4 XM_011518176.4:c.-14_-10= N/A 5 Prime UTR Variant
ADAMTS13 transcript variant X6 XM_011518178.3:c. N/A Genic Upstream Transcript Variant
ADAMTS13 transcript variant X7 XM_011518179.1:c. N/A Genic Upstream Transcript Variant
ADAMTS13 transcript variant X2 XM_047422699.1:c.1049_105…

XM_047422699.1:c.1049_1050del

P [CC] > Q [C] Coding Sequence Variant
A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X2 XP_047278655.1:p.Pro350fs P (Pro) > Q (Gln) Frameshift Variant
ADAMTS13 transcript variant X2 XM_047422699.1:c.1050dup K [AAA] > Q [CAAA] Coding Sequence Variant
A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X2 XP_047278655.1:p.Lys351fs K (Lys) > Q (Gln) Frameshift 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)5= delCC dupC
GRCh38.p14 chr 9 NC_000009.12:g.133430165_133430169= NC_000009.12:g.133430168_133430169del NC_000009.12:g.133430169dup
GRCh37.p13 chr 9 NC_000009.11:g.136295285_136295289= NC_000009.11:g.136295288_136295289del NC_000009.11:g.136295289dup
ADAMTS13 RefSeqGene (LRG_544) NG_011934.2:g.20827_20831= NG_011934.2:g.20830_20831del NG_011934.2:g.20831dup
GRCh38.p14 chr 9 fix patch HG2030_PATCH NW_009646201.1:g.256259_256263= NW_009646201.1:g.256262_256263del NW_009646201.1:g.256263dup
GRCh37.p13 chr 9 fix patch HG79_PATCH NW_003315925.1:g.256259_256263= NW_003315925.1:g.256262_256263del NW_003315925.1:g.256263dup
ADAMTS13 transcript variant X4 XM_011518176.4:c.-14_-10= XM_011518176.4:c.-11_-10del XM_011518176.4:c.-10dup
ADAMTS13 transcript variant X3 XM_011518176.3:c.-14_-10= XM_011518176.3:c.-11_-10del XM_011518176.3:c.-10dup
ADAMTS13 transcript variant X3 XM_011518176.2:c.-14_-10= XM_011518176.2:c.-11_-10del XM_011518176.2:c.-10dup
ADAMTS13 transcript variant X3 XM_011518176.1:c.-14_-10= XM_011518176.1:c.-11_-10del XM_011518176.1:c.-10dup
ADAMTS13 transcript NM_017587.3:c.-14_-9= NM_017587.3:c.-10_-9del NM_017587.3:c.-9dup
ADAMTS13 transcript variant 4 NM_139028.2:c.*255_*259= NM_139028.2:c.*258_*259del NM_139028.2:c.*259dup
ADAMTS13 transcript variant X2 XM_047422699.1:c.1046_1050= XM_047422699.1:c.1049_1050del XM_047422699.1:c.1050dup
ADAMTS13 transcript variant 4 NM_139028.1:c.*255_*259= NM_139028.1:c.*258_*259del NM_139028.1:c.*259dup
ADAMTS13 transcript NM_017587.1:c.-14_-9= NM_017587.1:c.-10_-9del NM_017587.1:c.-9dup
A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X2 XP_047278655.1:p.Ser349_Pro350= XP_047278655.1:p.Pro350fs XP_047278655.1:p.Lys351fs
ADAMTS13 transcript variant 1 NM_139025.4:c.987+64= NM_139025.4:c.987+67_987+68del NM_139025.4:c.987+68dup
ADAMTS13 transcript variant 1 NM_139025.5:c.987+64= NM_139025.5:c.987+67_987+68del NM_139025.5:c.987+68dup
ADAMTS13 transcript variant 3 NM_139026.4:c.894+64= NM_139026.4:c.894+67_894+68del NM_139026.4:c.894+68dup
ADAMTS13 transcript variant 3 NM_139026.6:c.894+64= NM_139026.6:c.894+67_894+68del NM_139026.6:c.894+68dup
ADAMTS13 transcript variant 2 NM_139027.4:c.987+64= NM_139027.4:c.987+67_987+68del NM_139027.4:c.987+68dup
ADAMTS13 transcript variant 2 NM_139027.6:c.987+64= NM_139027.6:c.987+67_987+68del NM_139027.6:c.987+68dup
ADAMTS13 transcript variant X1 XM_017014232.2:c.975+64= XM_017014232.2:c.975+67_975+68del XM_017014232.2:c.975+68dup
ADAMTS13 transcript variant X3 XM_017014233.2:c.597+64= XM_017014233.2:c.597+67_597+68del XM_017014233.2:c.597+68dup
ADAMTS13 transcript variant X5 XM_017014234.2:c.-3-2423= XM_017014234.2:c.-3-2420_-3-2419del XM_017014234.2:c.-3-2419dup
ADAMTS13 transcript variant X8 XM_017014235.2:c.987+64= XM_017014235.2:c.987+67_987+68del XM_017014235.2:c.987+68dup
ADAMTS13 transcript variant X9 XM_047422700.1:c.987+64= XM_047422700.1:c.987+67_987+68del XM_047422700.1:c.987+68dup
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#.

4 SubSNP, 2 Frequency submissions
No Submitter Submission ID Date (Build)
1 EVA_EXAC ss1711925236 Apr 09, 2015 (144)
2 GNOMAD ss2748299743 Oct 12, 2018 (152)
3 GNOMAD ss2884033095 Oct 12, 2018 (152)
4 FSA-LAB ss3984433506 Apr 26, 2021 (155)
5 ExAC NC_000009.11 - 136295285 Oct 12, 2018 (152)
6 gnomAD - Exomes NC_000009.11 - 136295285 Jul 13, 2019 (153)
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
7164297 NC_000009.11:136295284:CC: NC_000009.12:133430164:CCCCC:CCC (self)
9864748, ss1711925236, ss2748299743, ss2884033095, ss3984433506 NC_000009.11:136295284::C NC_000009.12:133430164:CCCCC:CCCCCC (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 rs782744649

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