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Paper Details

ClinGen Allele Registry links information about genetic variants.
Hum Mutat
37
2018
Author NameAffiliation
Piotr PawliczekBaylor College of Medicine
Ronak Y PatelBaylor College of Medicine
Andrew R JacksonBaylor College of Medicine
Andrew R JacksonBaylor College of Medicine
Chris BizonRenaissance Computing Institute, University of North Carolina
Chris BizonRenaissance Computing Institute, University of North Carolina
Tristan Nelson
Robert R FreimuthMayo Clinic
Natasha T StrandeUniversity of North Carolina
Mathew W WrightStanford University School of Medicine
Selina S DwightStanford University School of Medicine
Melissa J LandrumNational Center for Biotechnology Information, National Institutes of Health
Peter B McGarveyInnovation Center for Biomedical Informatics, Georgetown University Medical Center
Lawrence Babb
Sharon E PlonBaylor College of Medicine
Sharon E PlonBaylor College of Medicine
Aleksandar MilosavljevicBaylor College of Medicine
Aleksandar MilosavljevicBaylor College of Medicine
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Datasets

dbSNPIn addition to single nucleotide alterations that are common enough in a population to be referred to as polymorphic, dbSNP also includes rare variants, such as those with clinical assertions in ClinVar. Simple genetic variations including single-base nucleotide variations (SNVs), small multi-base deletions or insertions, and microsatellite repeats are all included in the dbSNP database. Allele frequency from the NCBI ALFA project (https://www.ncbi.nlm.nih.gov/snp/docs/gsr/alfa/), which compiles data from dbGaP studies, is also included in dbSNP.Link
dbSNPIn addition to single nucleotide alterations that are common enough in a population to be referred to as polymorphic, dbSNP also includes rare variants, such as those with clinical assertions in ClinVar. Simple genetic variations including single-base nucleotide variations (SNVs), small multi-base deletions or insertions, and microsatellite repeats are all included in the dbSNP database. Allele frequency from the NCBI ALFA project (https://www.ncbi.nlm.nih.gov/snp/docs/gsr/alfa/), which compiles data from dbGaP studies, is also included in dbSNP.Link
dbSNPIn addition to single nucleotide alterations that are common enough in a population to be referred to as polymorphic, dbSNP also includes rare variants, such as those with clinical assertions in ClinVar. Simple genetic variations including single-base nucleotide variations (SNVs), small multi-base deletions or insertions, and microsatellite repeats are all included in the dbSNP database. Allele frequency from the NCBI ALFA project (https://www.ncbi.nlm.nih.gov/snp/docs/gsr/alfa/), which compiles data from dbGaP studies, is also included in dbSNP.Link
dbSNPIn addition to single nucleotide alterations that are common enough in a population to be referred to as polymorphic, dbSNP also includes rare variants, such as those with clinical assertions in ClinVar. Simple genetic variations including single-base nucleotide variations (SNVs), small multi-base deletions or insertions, and microsatellite repeats are all included in the dbSNP database. Allele frequency from the NCBI ALFA project (https://www.ncbi.nlm.nih.gov/snp/docs/gsr/alfa/), which compiles data from dbGaP studies, is also included in dbSNP.Link
dbSNPIn addition to single nucleotide alterations that are common enough in a population to be referred to as polymorphic, dbSNP also includes rare variants, such as those with clinical assertions in ClinVar. Simple genetic variations including single-base nucleotide variations (SNVs), small multi-base deletions or insertions, and microsatellite repeats are all included in the dbSNP database. Allele frequency from the NCBI ALFA project (https://www.ncbi.nlm.nih.gov/snp/docs/gsr/alfa/), which compiles data from dbGaP studies, is also included in dbSNP.Link
dbSNPIn addition to single nucleotide alterations that are common enough in a population to be referred to as polymorphic, dbSNP also includes rare variants, such as those with clinical assertions in ClinVar. Simple genetic variations including single-base nucleotide variations (SNVs), small multi-base deletions or insertions, and microsatellite repeats are all included in the dbSNP database. Allele frequency from the NCBI ALFA project (https://www.ncbi.nlm.nih.gov/snp/docs/gsr/alfa/), which compiles data from dbGaP studies, is also included in dbSNP.Link
dbSNPIn addition to single nucleotide alterations that are common enough in a population to be referred to as polymorphic, dbSNP also includes rare variants, such as those with clinical assertions in ClinVar. Simple genetic variations including single-base nucleotide variations (SNVs), small multi-base deletions or insertions, and microsatellite repeats are all included in the dbSNP database. Allele frequency from the NCBI ALFA project (https://www.ncbi.nlm.nih.gov/snp/docs/gsr/alfa/), which compiles data from dbGaP studies, is also included in dbSNP.Link
dbSNPIn addition to single nucleotide alterations that are common enough in a population to be referred to as polymorphic, dbSNP also includes rare variants, such as those with clinical assertions in ClinVar. Simple genetic variations including single-base nucleotide variations (SNVs), small multi-base deletions or insertions, and microsatellite repeats are all included in the dbSNP database. Allele frequency from the NCBI ALFA project (https://www.ncbi.nlm.nih.gov/snp/docs/gsr/alfa/), which compiles data from dbGaP studies, is also included in dbSNP.Link
dbSNPIn addition to single nucleotide alterations that are common enough in a population to be referred to as polymorphic, dbSNP also includes rare variants, such as those with clinical assertions in ClinVar. Simple genetic variations including single-base nucleotide variations (SNVs), small multi-base deletions or insertions, and microsatellite repeats are all included in the dbSNP database. Allele frequency from the NCBI ALFA project (https://www.ncbi.nlm.nih.gov/snp/docs/gsr/alfa/), which compiles data from dbGaP studies, is also included in dbSNP.Link
dbSNPIn addition to single nucleotide alterations that are common enough in a population to be referred to as polymorphic, dbSNP also includes rare variants, such as those with clinical assertions in ClinVar. Simple genetic variations including single-base nucleotide variations (SNVs), small multi-base deletions or insertions, and microsatellite repeats are all included in the dbSNP database. Allele frequency from the NCBI ALFA project (https://www.ncbi.nlm.nih.gov/snp/docs/gsr/alfa/), which compiles data from dbGaP studies, is also included in dbSNP.Link
dbSNPIn addition to single nucleotide alterations that are common enough in a population to be referred to as polymorphic, dbSNP also includes rare variants, such as those with clinical assertions in ClinVar. Simple genetic variations including single-base nucleotide variations (SNVs), small multi-base deletions or insertions, and microsatellite repeats are all included in the dbSNP database. Allele frequency from the NCBI ALFA project (https://www.ncbi.nlm.nih.gov/snp/docs/gsr/alfa/), which compiles data from dbGaP studies, is also included in dbSNP.Link
dbSNPIn addition to single nucleotide alterations that are common enough in a population to be referred to as polymorphic, dbSNP also includes rare variants, such as those with clinical assertions in ClinVar. Simple genetic variations including single-base nucleotide variations (SNVs), small multi-base deletions or insertions, and microsatellite repeats are all included in the dbSNP database. Allele frequency from the NCBI ALFA project (https://www.ncbi.nlm.nih.gov/snp/docs/gsr/alfa/), which compiles data from dbGaP studies, is also included in dbSNP.Link
dbSNPIn addition to single nucleotide alterations that are common enough in a population to be referred to as polymorphic, dbSNP also includes rare variants, such as those with clinical assertions in ClinVar. Simple genetic variations including single-base nucleotide variations (SNVs), small multi-base deletions or insertions, and microsatellite repeats are all included in the dbSNP database. Allele frequency from the NCBI ALFA project (https://www.ncbi.nlm.nih.gov/snp/docs/gsr/alfa/), which compiles data from dbGaP studies, is also included in dbSNP.Link
dbSNPIn addition to single nucleotide alterations that are common enough in a population to be referred to as polymorphic, dbSNP also includes rare variants, such as those with clinical assertions in ClinVar. Simple genetic variations including single-base nucleotide variations (SNVs), small multi-base deletions or insertions, and microsatellite repeats are all included in the dbSNP database. Allele frequency from the NCBI ALFA project (https://www.ncbi.nlm.nih.gov/snp/docs/gsr/alfa/), which compiles data from dbGaP studies, is also included in dbSNP.Link
dbSNPIn addition to single nucleotide alterations that are common enough in a population to be referred to as polymorphic, dbSNP also includes rare variants, such as those with clinical assertions in ClinVar. Simple genetic variations including single-base nucleotide variations (SNVs), small multi-base deletions or insertions, and microsatellite repeats are all included in the dbSNP database. Allele frequency from the NCBI ALFA project (https://www.ncbi.nlm.nih.gov/snp/docs/gsr/alfa/), which compiles data from dbGaP studies, is also included in dbSNP.Link