DbSNP Summary FTP Download. SNP SUBMISSION. How to Submit Handle Request. DbSNP Fact Sheet Build History Search FAQ Archive dbSNP Handbook Overview SNP Science Primer Database Schema Database Dictionary Database Changes Genotype Schema Data Formats Docsum Schema.
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The default version of our dbSNP annotation is currently referring to dbSNP143 (using hg38 coordinates) as shown below. However, users can also retrieve older versions of dbSNP: dbSNP141, dbSNP138, dbSNP137, dbSNP135, dbSNP132, dbSNP131, dbSNP130, dbSNP129. Wintv-hvr 900 drivers.
The 129 and 130 versions use hg18 as a reference genome, 131, 132, 135, 137, 138 and 141 use hg19 and 143 uses hg38. The archived versions can be used by a variant tools project by referring to their specific names - for example: dbSNP-hg18_129. Annotation database dbSNP (version hg38_143) Description: dbSNP version 143, created using vcf file downloaded from NCBI Database type: variant Reference genome hg38: chr, pos, ref, alt chr (char) pos (int) name (char) DB SNP ID (rsname) ref (char) Reference allele (as on the + strand) alt (char) Alternative allele (as on the + strand) FILTER (char) Inconsistent Genotype Submission For At Least One Sample RS (int) dbSNP ID (i.e.
Rs number) RSPOS (int) Chr position reported in dbSNP RV (int) RS orientation is reversed VP (char) Variation Property. Documentation is at ftp://ftp.ncbi.nlm.nih.gov/snp/specs/dbSNP_BitField_latest.pdf GENEINFO (char) Pairs each of gene symbol:gene id. Annotation database dbSNP (version hg19_141) Description: dbSNP version 141 Database type: variant Number of records: 58,691,269 Distinct variants: 57,577,990 Reference genome hg19: chr, start, refNCBI, alt Field: chr Type: string Missing entries: 0 Unique Entries: 25 Field: start Type: integer Comment: start position in chrom (1-based) Missing entries: 0 Unique Entries: 48,758,859 Range: 56 - 249240605 Field: end Type: integer Comment: end position in chrom (1-based).
1.Chrom 2.Pos 3.ID 4.Ref 5.Alt 6.Qual 7.Filter 8.Info ##fileformat=VCFv4.1 ##FILTER= ##GATKCommandLine=.