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.
rs7252299
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr19:8580902 (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
- A>C / A>G
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
A=0.000113 (30/264690, TOPMED)A=0.000136 (19/140132, GnomAD)A=0.000107 (12/112058, ExAC) (+ 21 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- ADAMTS10 : Missense 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 | 88512 | A=0.00016 | C=0.99984, G=0.00000 |
| European | Sub | 76272 | A=0.00017 | C=0.99983, G=0.00000 |
| African | Sub | 2010 | A=0.0000 | C=1.0000, G=0.0000 |
| African Others | Sub | 32 | A=0.00 | C=1.00, G=0.00 |
| African American | Sub | 1978 | A=0.0000 | C=1.0000, G=0.0000 |
| Asian | Sub | 388 | A=0.000 | C=1.000, G=0.000 |
| East Asian | Sub | 318 | A=0.000 | C=1.000, G=0.000 |
| Other Asian | Sub | 70 | A=0.00 | C=1.00, G=0.00 |
| Latin American 1 | Sub | 378 | A=0.000 | C=1.000, G=0.000 |
| Latin American 2 | Sub | 316 | A=0.000 | C=1.000, G=0.000 |
| South Asian | Sub | 54 | A=0.00 | C=1.00, G=0.00 |
| Other | Sub | 9094 | A=0.0001 | C=0.9999, G=0.0000 |
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 |
|---|---|---|---|---|---|
| TopMed | Global | Study-wide | 264690 | A=0.000113 | C=0.999887 |
| gnomAD - Genomes | Global | Study-wide | 140132 | A=0.000136 | C=0.999864 |
| gnomAD - Genomes | European | Sub | 75874 | A=0.00022 | C=0.99978 |
| gnomAD - Genomes | African | Sub | 42014 | A=0.00005 | C=0.99995 |
| gnomAD - Genomes | American | Sub | 13642 | A=0.00000 | C=1.00000 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3322 | A=0.0000 | C=1.0000 |
| gnomAD - Genomes | East Asian | Sub | 3128 | A=0.0000 | C=1.0000 |
| gnomAD - Genomes | Other | Sub | 2152 | A=0.0000 | C=1.0000 |
| ExAC | Global | Study-wide | 112058 | A=0.000107 | C=0.999893 |
| ExAC | Europe | Sub | 67416 | A=0.00015 | C=0.99985 |
| ExAC | Asian | Sub | 23724 | A=0.00008 | C=0.99992 |
| ExAC | American | Sub | 10816 | A=0.00000 | C=1.00000 |
| ExAC | African | Sub | 9272 | A=0.0000 | C=1.0000 |
| ExAC | Other | Sub | 830 | A=0.000 | C=1.000 |
| Allele Frequency Aggregator | Total | Global | 88390 | A=0.00016 | C=0.99984, G=0.00000 |
| Allele Frequency Aggregator | European | Sub | 76168 | A=0.00017 | C=0.99983, G=0.00000 |
| Allele Frequency Aggregator | Other | Sub | 9090 | A=0.0001 | C=0.9999, G=0.0000 |
| Allele Frequency Aggregator | African | Sub | 1996 | A=0.0000 | C=1.0000, G=0.0000 |
| Allele Frequency Aggregator | Asian | Sub | 388 | A=0.000 | C=1.000, G=0.000 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 378 | A=0.000 | C=1.000, G=0.000 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 316 | A=0.000 | C=1.000, G=0.000 |
| Allele Frequency Aggregator | South Asian | Sub | 54 | A=0.00 | C=1.00, G=0.00 |
| The PAGE Study | Global | Study-wide | 78500 | A=0.00006 | C=0.99994 |
| The PAGE Study | AfricanAmerican | Sub | 32354 | A=0.00009 | C=0.99991 |
| The PAGE Study | Mexican | Sub | 10806 | A=0.00000 | C=1.00000 |
| The PAGE Study | Asian | Sub | 8316 | A=0.0000 | C=1.0000 |
| The PAGE Study | PuertoRican | Sub | 7916 | A=0.0000 | C=1.0000 |
| The PAGE Study | NativeHawaiian | Sub | 4504 | A=0.0004 | C=0.9996 |
| The PAGE Study | Cuban | Sub | 4228 | A=0.0000 | C=1.0000 |
| The PAGE Study | Dominican | Sub | 3828 | A=0.0000 | C=1.0000 |
| The PAGE Study | CentralAmerican | Sub | 2450 | A=0.0000 | C=1.0000 |
| The PAGE Study | SouthAmerican | Sub | 1982 | A=0.0000 | C=1.0000 |
| The PAGE Study | NativeAmerican | Sub | 1260 | A=0.0000 | C=1.0000 |
| The PAGE Study | SouthAsian | Sub | 856 | A=0.000 | C=1.000 |
| 14KJPN | JAPANESE | Study-wide | 28252 | A=0.00004 | C=0.99996 |
| 8.3KJPN | JAPANESE | Study-wide | 16756 | A=0.00024 | C=0.99976 |
| GO Exome Sequencing Project | Global | Study-wide | 13006 | A=0.00015 | C=0.99985 |
| GO Exome Sequencing Project | European American | Sub | 8600 | A=0.0002 | C=0.9998 |
| GO Exome Sequencing Project | African American | Sub | 4406 | A=0.0000 | C=1.0000 |
| 1000Genomes_30x | Global | Study-wide | 6404 | A=0.0002 | C=0.9998 |
| 1000Genomes_30x | African | Sub | 1786 | A=0.0000 | C=1.0000 |
| 1000Genomes_30x | Europe | Sub | 1266 | A=0.0008 | C=0.9992 |
| 1000Genomes_30x | South Asian | Sub | 1202 | A=0.0000 | C=1.0000 |
| 1000Genomes_30x | East Asian | Sub | 1170 | A=0.0000 | C=1.0000 |
| 1000Genomes_30x | American | Sub | 980 | A=0.000 | C=1.000 |
| 1000Genomes | Global | Study-wide | 5008 | A=0.0002 | C=0.9998 |
| 1000Genomes | African | Sub | 1322 | A=0.0000 | C=1.0000 |
| 1000Genomes | East Asian | Sub | 1008 | A=0.0000 | C=1.0000 |
| 1000Genomes | Europe | Sub | 1006 | A=0.0010 | C=0.9990 |
| 1000Genomes | South Asian | Sub | 978 | A=0.000 | C=1.000 |
| 1000Genomes | American | Sub | 694 | A=0.000 | C=1.000 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | A=0.0000 | C=1.0000 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | A=0.0003 | C=0.9997 |
| KOREAN population from KRGDB | KOREAN | Study-wide | 2928 | A=0.0000 | C=1.0000, G=0.0000 |
| Korean Genome Project | KOREAN | Study-wide | 1818 | A=0.0000 | C=1.0000 |
| CNV burdens in cranial meningiomas | Global | Study-wide | 792 | A=0.000 | C=1.000 |
| CNV burdens in cranial meningiomas | CRM | Sub | 792 | A=0.000 | C=1.000 |
| A Vietnamese Genetic Variation Database | Global | Study-wide | 610 | A=0.000 | C=1.000 |
| Northern Sweden | ACPOP | Study-wide | 600 | A=0.000 | C=1.000 |
| SGDP_PRJ | Global | Study-wide | 556 | A=0.000 | C=1.000 |
| Medical Genome Project healthy controls from Spanish population | Spanish controls | Study-wide | 534 | A=0.144 | C=0.856 |
| FINRISK | Finnish from FINRISK project | Study-wide | 284 | A=0.000 | C=1.000 |
| Qatari | Global | Study-wide | 216 | A=0.000 | C=1.000 |
| Siberian | Global | Study-wide | 56 | A=0.00 | C=1.00 |
| The Danish reference pan genome | Danish | Study-wide | 40 | A=0.00 | C=1.00 |
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 19 | NC_000019.10:g.8580902A>C |
| GRCh38.p14 chr 19 | NC_000019.10:g.8580902A>G |
| GRCh37.p13 chr 19 | NC_000019.9:g.8645786A>C |
| GRCh37.p13 chr 19 | NC_000019.9:g.8645786A>G |
| ADAMTS10 RefSeqGene | NG_011840.2:g.34801T>G |
| ADAMTS10 RefSeqGene | NG_011840.2:g.34801T>C |
| MYO1F RefSeqGene | NG_052844.1:g.1546T>G |
| MYO1F RefSeqGene | NG_052844.1:g.1546T>C |
| GRCh37.p13 chr 19 fix patch HG729_PATCH | NW_003871094.1:g.10872A>C |
| GRCh37.p13 chr 19 fix patch HG729_PATCH | NW_003871094.1:g.10872A>G |
Gene: ADAMTS10, ADAM metallopeptidase with thrombospondin type 1 motif 10
(minus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| ADAMTS10 transcript variant 1 | NM_030957.4:c.3303T>G | H [CAT] > Q [CAG] | Coding Sequence Variant |
| A disintegrin and metalloproteinase with thrombospondin motifs 10 isoform 1 preproprotein | NP_112219.3:p.His1101Gln | H (His) > Q (Gln) | Missense Variant |
| ADAMTS10 transcript variant 1 | NM_030957.4:c.3303T>C | H [CAT] > H [CAC] | Coding Sequence Variant |
| A disintegrin and metalloproteinase with thrombospondin motifs 10 isoform 1 preproprotein | NP_112219.3:p.His1101= | H (His) > H (His) | Synonymous Variant |
| ADAMTS10 transcript variant 2 | NM_001282352.2:c.1764T>G | H [CAT] > Q [CAG] | Coding Sequence Variant |
| A disintegrin and metalloproteinase with thrombospondin motifs 10 isoform 2 | NP_001269281.1:p.His588Gln | H (His) > Q (Gln) | Missense Variant |
| ADAMTS10 transcript variant 2 | NM_001282352.2:c.1764T>C | H [CAT] > H [CAC] | Coding Sequence Variant |
| A disintegrin and metalloproteinase with thrombospondin motifs 10 isoform 2 | NP_001269281.1:p.His588= | H (His) > H (His) | Synonymous Variant |
| ADAMTS10 transcript variant X7 | XM_047439484.1:c. | N/A | Genic Downstream Transcript Variant |
| ADAMTS10 transcript variant X1 | XM_047439480.1:c.3450T>G | H [CAT] > Q [CAG] | Coding Sequence Variant |
| A disintegrin and metalloproteinase with thrombospondin motifs 10 isoform X1 |
XP_047295436.1:p.His1150G… XP_047295436.1:p.His1150Gln |
H (His) > Q (Gln) | Missense Variant |
| ADAMTS10 transcript variant X1 | XM_047439480.1:c.3450T>C | H [CAT] > H [CAC] | Coding Sequence Variant |
| A disintegrin and metalloproteinase with thrombospondin motifs 10 isoform X1 | XP_047295436.1:p.His1150= | H (His) > H (His) | Synonymous Variant |
| ADAMTS10 transcript variant X2 | XM_047439481.1:c.3450T>G | H [CAT] > Q [CAG] | Coding Sequence Variant |
| A disintegrin and metalloproteinase with thrombospondin motifs 10 isoform X1 |
XP_047295437.1:p.His1150G… XP_047295437.1:p.His1150Gln |
H (His) > Q (Gln) | Missense Variant |
| ADAMTS10 transcript variant X2 | XM_047439481.1:c.3450T>C | H [CAT] > H [CAC] | Coding Sequence Variant |
| A disintegrin and metalloproteinase with thrombospondin motifs 10 isoform X1 | XP_047295437.1:p.His1150= | H (His) > H (His) | Synonymous Variant |
| ADAMTS10 transcript variant X3 | XM_017027338.3:c.3303T>G | H [CAT] > Q [CAG] | Coding Sequence Variant |
| A disintegrin and metalloproteinase with thrombospondin motifs 10 isoform X2 |
XP_016882827.1:p.His1101G… XP_016882827.1:p.His1101Gln |
H (His) > Q (Gln) | Missense Variant |
| ADAMTS10 transcript variant X3 | XM_017027338.3:c.3303T>C | H [CAT] > H [CAC] | Coding Sequence Variant |
| A disintegrin and metalloproteinase with thrombospondin motifs 10 isoform X2 | XP_016882827.1:p.His1101= | H (His) > H (His) | Synonymous Variant |
| ADAMTS10 transcript variant X5 | XM_047439482.1:c.2019T>G | H [CAT] > Q [CAG] | Coding Sequence Variant |
| A disintegrin and metalloproteinase with thrombospondin motifs 10 isoform X3 | XP_047295438.1:p.His673Gln | H (His) > Q (Gln) | Missense Variant |
| ADAMTS10 transcript variant X5 | XM_047439482.1:c.2019T>C | H [CAT] > H [CAC] | Coding Sequence Variant |
| A disintegrin and metalloproteinase with thrombospondin motifs 10 isoform X3 | XP_047295438.1:p.His673= | H (His) > H (His) | Synonymous Variant |
| ADAMTS10 transcript variant X6 | XM_047439483.1:c.2013T>G | H [CAT] > Q [CAG] | Coding Sequence Variant |
| A disintegrin and metalloproteinase with thrombospondin motifs 10 isoform X4 | XP_047295439.1:p.His671Gln | H (His) > Q (Gln) | Missense Variant |
| ADAMTS10 transcript variant X6 | XM_047439483.1:c.2013T>C | H [CAT] > H [CAC] | Coding Sequence Variant |
| A disintegrin and metalloproteinase with thrombospondin motifs 10 isoform X4 | XP_047295439.1:p.His671= | H (His) > H (His) | Synonymous Variant |
| ADAMTS10 transcript variant X4 | XR_001753770.2: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.
Allele: C (allele ID:
508932
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000608518.6 | Weill-Marchesani syndrome 1 | Benign |
| RCV000837579.5 | not provided | Benign |
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 | A= | C | G |
|---|---|---|---|
| GRCh38.p14 chr 19 | NC_000019.10:g.8580902= | NC_000019.10:g.8580902A>C | NC_000019.10:g.8580902A>G |
| GRCh37.p13 chr 19 | NC_000019.9:g.8645786= | NC_000019.9:g.8645786A>C | NC_000019.9:g.8645786A>G |
| ADAMTS10 RefSeqGene | NG_011840.2:g.34801= | NG_011840.2:g.34801T>G | NG_011840.2:g.34801T>C |
| ADAMTS10 transcript variant 1 | NM_030957.4:c.3303= | NM_030957.4:c.3303T>G | NM_030957.4:c.3303T>C |
| ADAMTS10 transcript variant 1 | NM_030957.3:c.3303= | NM_030957.3:c.3303T>G | NM_030957.3:c.3303T>C |
| ADAMTS10 transcript | NM_030957.2:c.3303G>T | NM_030957.2:c.3303= | NM_030957.2:c.3303G>C |
| ADAMTS10 transcript variant 2 | NM_001282352.2:c.1764= | NM_001282352.2:c.1764T>G | NM_001282352.2:c.1764T>C |
| ADAMTS10 transcript variant 2 | NM_001282352.1:c.1764= | NM_001282352.1:c.1764T>G | NM_001282352.1:c.1764T>C |
| MYO1F RefSeqGene | NG_052844.1:g.1546= | NG_052844.1:g.1546T>G | NG_052844.1:g.1546T>C |
| GRCh37.p13 chr 19 fix patch HG729_PATCH | NW_003871094.1:g.10872= | NW_003871094.1:g.10872A>C | NW_003871094.1:g.10872A>G |
| ADAMTS10 transcript variant X3 | XM_017027338.3:c.3303= | XM_017027338.3:c.3303T>G | XM_017027338.3:c.3303T>C |
| ADAMTS10 transcript variant X1 | XM_017027338.2:c.3303= | XM_017027338.2:c.3303T>G | XM_017027338.2:c.3303T>C |
| ADAMTS10 transcript variant X1 | XM_017027338.1:c.3303= | XM_017027338.1:c.3303T>G | XM_017027338.1:c.3303T>C |
| ADAMTS10 transcript variant X2 | XM_047439481.1:c.3450= | XM_047439481.1:c.3450T>G | XM_047439481.1:c.3450T>C |
| ADAMTS10 transcript variant X1 | XM_047439480.1:c.3450= | XM_047439480.1:c.3450T>G | XM_047439480.1:c.3450T>C |
| ADAMTS10 transcript variant X5 | XM_047439482.1:c.2019= | XM_047439482.1:c.2019T>G | XM_047439482.1:c.2019T>C |
| ADAMTS10 transcript variant X6 | XM_047439483.1:c.2013= | XM_047439483.1:c.2013T>G | XM_047439483.1:c.2013T>C |
| A disintegrin and metalloproteinase with thrombospondin motifs 10 isoform 1 preproprotein | NP_112219.3:p.His1101= | NP_112219.3:p.His1101Gln | NP_112219.3:p.His1101= |
| A disintegrin and metalloproteinase with thrombospondin motifs 10 isoform 2 | NP_001269281.1:p.His588= | NP_001269281.1:p.His588Gln | NP_001269281.1:p.His588= |
| A disintegrin and metalloproteinase with thrombospondin motifs 10 isoform X2 | XP_016882827.1:p.His1101= | XP_016882827.1:p.His1101Gln | XP_016882827.1:p.His1101= |
| A disintegrin and metalloproteinase with thrombospondin motifs 10 isoform X1 | XP_047295437.1:p.His1150= | XP_047295437.1:p.His1150Gln | XP_047295437.1:p.His1150= |
| A disintegrin and metalloproteinase with thrombospondin motifs 10 isoform X1 | XP_047295436.1:p.His1150= | XP_047295436.1:p.His1150Gln | XP_047295436.1:p.His1150= |
| A disintegrin and metalloproteinase with thrombospondin motifs 10 isoform X3 | XP_047295438.1:p.His673= | XP_047295438.1:p.His673Gln | XP_047295438.1:p.His673= |
| A disintegrin and metalloproteinase with thrombospondin motifs 10 isoform X4 | XP_047295439.1:p.His671= | XP_047295439.1:p.His671Gln | XP_047295439.1:p.His671= |
| A disintegrin and metalloproteinase with thrombospondin motifs 10 preproprotein | NP_112219.2:p.Gln1101His | NP_112219.2:p.Gln1101= | NP_112219.2:p.Gln1101His |
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#.
138 SubSNP,
25 Frequency,
2 ClinVar
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | BCM_SSAHASNP | ss10930139 | Jul 11, 2003 (116) |
| 2 | CSHL-HAPMAP | ss16792783 | Feb 27, 2004 (120) |
| 3 | HGSV | ss77293017 | Dec 06, 2007 (129) |
| 4 | BCMHGSC_JDW | ss90898709 | Mar 24, 2008 (129) |
| 5 | HUMANGENOME_JCVI | ss96252650 | Feb 05, 2009 (130) |
| 6 | BGI | ss106044903 | Feb 05, 2009 (130) |
| 7 | 1000GENOMES | ss114813504 | Jan 25, 2009 (130) |
| 8 | ILLUMINA-UK | ss117635007 | Feb 14, 2009 (130) |
| 9 | ENSEMBL | ss136221875 | Dec 01, 2009 (131) |
| 10 | ENSEMBL | ss137543510 | Dec 01, 2009 (131) |
| 11 | SEATTLESEQ | ss159738438 | Dec 01, 2009 (131) |
| 12 | ILLUMINA | ss160865917 | Dec 01, 2009 (131) |
| 13 | COMPLETE_GENOMICS | ss167777694 | Jul 04, 2010 (132) |
| 14 | COMPLETE_GENOMICS | ss169026723 | Jul 04, 2010 (132) |
| 15 | BUSHMAN | ss203651842 | Jul 04, 2010 (132) |
| 16 | BCM-HGSC-SUB | ss208556276 | Jul 04, 2010 (132) |
| 17 | 1000GENOMES | ss210939639 | Jul 14, 2010 (132) |
| 18 | 1000GENOMES | ss228034088 | Jul 14, 2010 (132) |
| 19 | 1000GENOMES | ss237597369 | Jul 15, 2010 (132) |
| 20 | 1000GENOMES | ss243820474 | Jul 15, 2010 (132) |
| 21 | BL | ss255477833 | May 09, 2011 (134) |
| 22 | GMI | ss283118392 | May 04, 2012 (137) |
| 23 | PJP | ss292209752 | May 09, 2011 (134) |
| 24 | NHLBI-ESP | ss342484229 | May 09, 2011 (134) |
| 25 | ILLUMINA | ss479293398 | May 04, 2012 (137) |
| 26 | ILLUMINA | ss481523837 | May 04, 2012 (137) |
| 27 | ILLUMINA | ss481552603 | May 04, 2012 (137) |
| 28 | ILLUMINA | ss482526996 | Sep 11, 2015 (146) |
| 29 | ILLUMINA | ss483863636 | May 04, 2012 (137) |
| 30 | ILLUMINA | ss485556952 | May 04, 2012 (137) |
| 31 | 1000GENOMES | ss491148522 | May 04, 2012 (137) |
| 32 | EXOME_CHIP | ss491538823 | May 04, 2012 (137) |
| 33 | CLINSEQ_SNP | ss491756994 | May 04, 2012 (137) |
| 34 | ILLUMINA | ss532867985 | Sep 11, 2015 (146) |
| 35 | TISHKOFF | ss565844838 | Apr 25, 2013 (138) |
| 36 | SSMP | ss661699740 | Apr 25, 2013 (138) |
| 37 | ILLUMINA | ss779450049 | Sep 11, 2015 (146) |
| 38 | ILLUMINA | ss780740163 | Sep 11, 2015 (146) |
| 39 | ILLUMINA | ss780945444 | Sep 11, 2015 (146) |
| 40 | ILLUMINA | ss783224027 | Sep 11, 2015 (146) |
| 41 | ILLUMINA | ss783417387 | Sep 11, 2015 (146) |
| 42 | ILLUMINA | ss832484322 | Sep 11, 2015 (146) |
| 43 | ILLUMINA | ss834919588 | Sep 11, 2015 (146) |
| 44 | JMKIDD_LAB | ss1067583620 | Aug 21, 2014 (142) |
| 45 | JMKIDD_LAB | ss1081748509 | Aug 21, 2014 (142) |
| 46 | 1000GENOMES | ss1362293126 | Aug 21, 2014 (142) |
| 47 | DDI | ss1428331313 | Apr 09, 2015 (144) |
| 48 | EVA_GENOME_DK | ss1578549848 | Apr 09, 2015 (144) |
| 49 | EVA_FINRISK | ss1584113819 | Apr 09, 2015 (144) |
| 50 | EVA_UK10K_ALSPAC | ss1637536394 | Apr 09, 2015 (144) |
| 51 | EVA_UK10K_TWINSUK | ss1680530427 | Apr 09, 2015 (144) |
| 52 | EVA_EXAC | ss1693335667 | Apr 09, 2015 (144) |
| 53 | EVA_MGP | ss1711497032 | Apr 09, 2015 (144) |
| 54 | ILLUMINA | ss1752299945 | Sep 11, 2015 (146) |
| 55 | HAMMER_LAB | ss1809201348 | Sep 11, 2015 (146) |
| 56 | WEILL_CORNELL_DGM | ss1937555218 | Feb 17, 2016 (147) |
| 57 | ILLUMINA | ss1959837219 | Feb 17, 2016 (147) |
| 58 | JJLAB | ss2029551505 | Sep 28, 2016 (149) |
| 59 | USC_VALOUEV | ss2158071625 | Oct 12, 2018 (152) |
| 60 | HUMAN_LONGEVITY | ss2224172550 | Dec 20, 2016 (150) |
| 61 | SYSTEMSBIOZJU | ss2629275052 | Oct 12, 2018 (152) |
| 62 | ILLUMINA | ss2633516352 | Oct 12, 2018 (152) |
| 63 | ILLUMINA | ss2633516353 | Oct 12, 2018 (152) |
| 64 | GRF | ss2702674987 | Oct 12, 2018 (152) |
| 65 | GNOMAD | ss2743581810 | Oct 12, 2018 (152) |
| 66 | GNOMAD | ss2750055657 | Oct 12, 2018 (152) |
| 67 | GNOMAD | ss2960285696 | Oct 12, 2018 (152) |
| 68 | SWEGEN | ss3017069619 | Oct 12, 2018 (152) |
| 69 | ILLUMINA | ss3021877785 | Oct 12, 2018 (152) |
| 70 | BIOINF_KMB_FNS_UNIBA | ss3028608759 | Nov 08, 2017 (151) |
| 71 | CSHL | ss3352191473 | Oct 12, 2018 (152) |
| 72 | ILLUMINA | ss3627885428 | Oct 12, 2018 (152) |
| 73 | ILLUMINA | ss3627885429 | Oct 12, 2018 (152) |
| 74 | ILLUMINA | ss3631489776 | Oct 12, 2018 (152) |
| 75 | ILLUMINA | ss3633174022 | Oct 12, 2018 (152) |
| 76 | ILLUMINA | ss3633883773 | Oct 12, 2018 (152) |
| 77 | ILLUMINA | ss3634722539 | Oct 12, 2018 (152) |
| 78 | ILLUMINA | ss3634722540 | Oct 12, 2018 (152) |
| 79 | ILLUMINA | ss3635570771 | Oct 12, 2018 (152) |
| 80 | ILLUMINA | ss3636412196 | Oct 12, 2018 (152) |
| 81 | ILLUMINA | ss3637322464 | Oct 12, 2018 (152) |
| 82 | ILLUMINA | ss3640429847 | Oct 12, 2018 (152) |
| 83 | ILLUMINA | ss3640429848 | Oct 12, 2018 (152) |
| 84 | ILLUMINA | ss3644714870 | Oct 12, 2018 (152) |
| 85 | OMUKHERJEE_ADBS | ss3646529236 | Oct 12, 2018 (152) |
| 86 | URBANLAB | ss3650865380 | Oct 12, 2018 (152) |
| 87 | ILLUMINA | ss3652302051 | Oct 12, 2018 (152) |
| 88 | EVA_DECODE | ss3702314242 | Jul 13, 2019 (153) |
| 89 | ILLUMINA | ss3725705824 | Jul 13, 2019 (153) |
| 90 | ACPOP | ss3742841466 | Jul 13, 2019 (153) |
| 91 | ILLUMINA | ss3745022597 | Jul 13, 2019 (153) |
| 92 | ILLUMINA | ss3745022598 | Jul 13, 2019 (153) |
| 93 | EVA | ss3755793617 | Jul 13, 2019 (153) |
| 94 | PAGE_CC | ss3771995522 | Jul 13, 2019 (153) |
| 95 | ILLUMINA | ss3772519941 | Jul 13, 2019 (153) |
| 96 | PACBIO | ss3788463653 | Jul 13, 2019 (153) |
| 97 | PACBIO | ss3793384551 | Jul 13, 2019 (153) |
| 98 | PACBIO | ss3798271172 | Jul 13, 2019 (153) |
| 99 | KHV_HUMAN_GENOMES | ss3821048783 | Jul 13, 2019 (153) |
| 100 | EVA | ss3825232965 | Apr 27, 2020 (154) |
| 101 | EVA | ss3825925405 | Apr 27, 2020 (154) |
| 102 | EVA | ss3835343906 | Apr 27, 2020 (154) |
| 103 | EVA | ss3841293514 | Apr 27, 2020 (154) |
| 104 | EVA | ss3846797868 | Apr 27, 2020 (154) |
| 105 | SGDP_PRJ | ss3887732719 | Apr 27, 2020 (154) |
| 106 | KRGDB | ss3937691927 | Apr 27, 2020 (154) |
| 107 | KOGIC | ss3980799825 | Apr 27, 2020 (154) |
| 108 | FSA-LAB | ss3984142804 | Apr 27, 2021 (155) |
| 109 | EVA | ss3984738367 | Apr 27, 2021 (155) |
| 110 | EVA | ss3986079108 | Apr 27, 2021 (155) |
| 111 | EVA | ss3986775849 | Apr 27, 2021 (155) |
| 112 | GNOMAD | ss4327374802 | Apr 27, 2021 (155) |
| 113 | TOPMED | ss5067477451 | Apr 27, 2021 (155) |
| 114 | TOMMO_GENOMICS | ss5226665375 | Apr 27, 2021 (155) |
| 115 | EVA | ss5236955109 | Apr 27, 2021 (155) |
| 116 | EVA | ss5237245016 | Apr 27, 2021 (155) |
| 117 | EVA | ss5237671599 | Oct 16, 2022 (156) |
| 118 | TRAN_CS_UWATERLOO | ss5314451857 | Oct 16, 2022 (156) |
| 119 | EVA | ss5315960754 | Oct 16, 2022 (156) |
| 120 | EVA | ss5433475981 | Oct 16, 2022 (156) |
| 121 | HUGCELL_USP | ss5499075167 | Oct 16, 2022 (156) |
| 122 | 1000G_HIGH_COVERAGE | ss5611814495 | Oct 16, 2022 (156) |
| 123 | EVA | ss5623975942 | Oct 16, 2022 (156) |
| 124 | EVA | ss5624085150 | Oct 16, 2022 (156) |
| 125 | SANFORD_IMAGENETICS | ss5661945880 | Oct 16, 2022 (156) |
| 126 | TOMMO_GENOMICS | ss5784919508 | Oct 16, 2022 (156) |
| 127 | EVA | ss5800072836 | Oct 16, 2022 (156) |
| 128 | EVA | ss5800218837 | Oct 16, 2022 (156) |
| 129 | YY_MCH | ss5817393471 | Oct 16, 2022 (156) |
| 130 | EVA | ss5840234066 | Oct 16, 2022 (156) |
| 131 | EVA | ss5847834159 | Oct 16, 2022 (156) |
| 132 | EVA | ss5848479904 | Oct 16, 2022 (156) |
| 133 | EVA | ss5852198577 | Oct 16, 2022 (156) |
| 134 | EVA | ss5927239529 | Oct 16, 2022 (156) |
| 135 | EVA | ss5936572031 | Oct 16, 2022 (156) |
| 136 | EVA | ss5953369874 | Oct 16, 2022 (156) |
| 137 | EVA | ss5981030549 | Oct 16, 2022 (156) |
| 138 | EVA | ss5981308958 | Oct 16, 2022 (156) |
| 139 | 1000Genomes | NC_000019.9 - 8645786 | Oct 12, 2018 (152) |
| 140 | 1000Genomes_30x | NC_000019.10 - 8580902 | Oct 16, 2022 (156) |
| 141 | The Avon Longitudinal Study of Parents and Children | NC_000019.9 - 8645786 | Oct 12, 2018 (152) |
| 142 | ExAC | NC_000019.9 - 8645786 | Oct 12, 2018 (152) |
| 143 | FINRISK | NC_000019.9 - 8645786 | Apr 27, 2020 (154) |
| 144 | The Danish reference pan genome | NC_000019.9 - 8645786 | Apr 27, 2020 (154) |
| 145 | gnomAD - Genomes | NC_000019.10 - 8580902 | Apr 27, 2021 (155) |
| 146 |
gnomAD - Exomes
Submission ignored due to conflicting rows: |
- | Jul 13, 2019 (153) |
| 147 |
gnomAD - Exomes
Submission ignored due to conflicting rows: |
- | Jul 13, 2019 (153) |
| 148 | GO Exome Sequencing Project | NC_000019.9 - 8645786 | Oct 12, 2018 (152) |
| 149 | KOREAN population from KRGDB | NC_000019.9 - 8645786 | Apr 27, 2020 (154) |
| 150 | Korean Genome Project | NC_000019.10 - 8580902 | Apr 27, 2020 (154) |
| 151 | Medical Genome Project healthy controls from Spanish population | NC_000019.9 - 8645786 | Apr 27, 2020 (154) |
| 152 | Northern Sweden | NC_000019.9 - 8645786 | Jul 13, 2019 (153) |
| 153 | The PAGE Study | NC_000019.10 - 8580902 | Jul 13, 2019 (153) |
| 154 | CNV burdens in cranial meningiomas | NC_000019.9 - 8645786 | Apr 27, 2021 (155) |
| 155 | Qatari | NC_000019.9 - 8645786 | Apr 27, 2020 (154) |
| 156 | SGDP_PRJ | NC_000019.9 - 8645786 | Apr 27, 2020 (154) |
| 157 | Siberian | NC_000019.9 - 8645786 | Apr 27, 2020 (154) |
| 158 | 8.3KJPN | NC_000019.9 - 8645786 | Apr 27, 2021 (155) |
| 159 | 14KJPN | NC_000019.10 - 8580902 | Oct 16, 2022 (156) |
| 160 | TopMed | NC_000019.10 - 8580902 | Apr 27, 2021 (155) |
| 161 | UK 10K study - Twins | NC_000019.9 - 8645786 | Oct 12, 2018 (152) |
| 162 | A Vietnamese Genetic Variation Database | NC_000019.9 - 8645786 | Jul 13, 2019 (153) |
| 163 | ALFA | NC_000019.10 - 8580902 | Apr 27, 2021 (155) |
| 164 | ClinVar | RCV000608518.6 | Oct 16, 2022 (156) |
| 165 | ClinVar | RCV000837579.5 | 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 |
|---|---|---|---|
| ss77293017, ss90898709, ss114813504, ss117635007, ss167777694, ss169026723, ss203651842, ss208556276, ss210939639, ss255477833, ss283118392, ss292209752, ss481523837, ss483863636, ss491756994 | NC_000019.8:8551785:A:C | NC_000019.10:8580901:A:C | (self) |
| 75668256, 41928745, 3820917, 110280, 4735927, 1689959, 44869321, 612792, 16126331, 287919, 19597140, 39749699, 10587979, 84634682, 41928745, 9269814, ss228034088, ss237597369, ss243820474, ss342484229, ss479293398, ss481552603, ss482526996, ss485556952, ss491148522, ss491538823, ss532867985, ss565844838, ss661699740, ss779450049, ss780740163, ss780945444, ss783224027, ss783417387, ss832484322, ss834919588, ss1067583620, ss1081748509, ss1362293126, ss1428331313, ss1578549848, ss1584113819, ss1637536394, ss1680530427, ss1693335667, ss1711497032, ss1752299945, ss1809201348, ss1937555218, ss1959837219, ss2029551505, ss2158071625, ss2629275052, ss2633516352, ss2633516353, ss2702674987, ss2743581810, ss2750055657, ss2960285696, ss3017069619, ss3021877785, ss3352191473, ss3627885428, ss3627885429, ss3631489776, ss3633174022, ss3633883773, ss3634722539, ss3634722540, ss3635570771, ss3636412196, ss3637322464, ss3640429847, ss3640429848, ss3644714870, ss3646529236, ss3652302051, ss3742841466, ss3745022597, ss3745022598, ss3755793617, ss3772519941, ss3788463653, ss3793384551, ss3798271172, ss3825232965, ss3825925405, ss3835343906, ss3841293514, ss3887732719, ss3937691927, ss3984142804, ss3984738367, ss3986079108, ss3986775849, ss5226665375, ss5315960754, ss5433475981, ss5623975942, ss5624085150, ss5661945880, ss5800072836, ss5800218837, ss5840234066, ss5847834159, ss5848479904, ss5936572031, ss5953369874, ss5981030549, ss5981308958 | NC_000019.9:8645785:A:C | NC_000019.10:8580901:A:C | (self) |
| RCV000608518.6, RCV000837579.5, 99340430, 533635436, 37177826, 1216991, 118756612, 283023115, 7528568383, ss2224172550, ss3028608759, ss3650865380, ss3702314242, ss3725705824, ss3771995522, ss3821048783, ss3846797868, ss3980799825, ss4327374802, ss5067477451, ss5236955109, ss5237245016, ss5237671599, ss5314451857, ss5499075167, ss5611814495, ss5784919508, ss5817393471, ss5852198577, ss5927239529 | NC_000019.10:8580901:A:C | NC_000019.10:8580901:A:C | (self) |
| ss10930139 | NT_077812.1:1249781:A:C | NC_000019.10:8580901:A:C | (self) |
| ss16792783, ss96252650, ss106044903, ss136221875, ss137543510, ss159738438, ss160865917 | NT_077812.2:1249781:A:C | NC_000019.10:8580901:A:C | (self) |
| 44869321, ss2743581810, ss3937691927 | NC_000019.9:8645785:A:G | NC_000019.10:8580901:A:G | (self) |
| 7528568383 | NC_000019.10:8580901:A:G | NC_000019.10:8580901:A:G | (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 rs7252299
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.
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.