Schema for omimAv
  Database: hg38    Primary Table: omimAv    Row Count: 32,704   Data last updated: 2022-06-15
Format description: OMIM AV
fieldexampleSQL type info description
avId 100650.0001varchar(40) values MIM AV Number
omimId 100650int(11) range MIM ID
seqNo 1int(11) range sequence number
geneSymbol ALDH2varchar(255) values gene symbol
replacement ALDH2, GLU504LYS varchar(255) values AA replacement
repl1 ALDH2varchar(255) values part 1 of AA replacement
repl2 GLU504LYSvarchar(255) values part 2 of AA replacement
dbSnpId rs671varchar(255) values dbSNP ID if available
description ALCOHOL SENSITIVITY, ACUTEblob values description

Connected Tables and Joining Fields
        hg38.omimAvSnp.name (via omimAv.avId)
      hg38.omim2gene.omimId (via omimAv.omimId)
      hg38.omimGene2.name (via omimAv.omimId)
      hg38.omimGeneSymbol.omimId (via omimAv.omimId)
      hg38.omimPhenotype.omimId (via omimAv.omimId)
      hgFixed.refLink.omimId (via omimAv.omimId)

Sample Rows
 
avIdomimIdseqNogeneSymbolreplacementrepl1repl2dbSnpIddescription
100650.00011006501ALDH2ALDH2, GLU504LYSALDH2GLU504LYSrs671ALCOHOL SENSITIVITY, ACUTE
100690.00011006901CHRNA1CHRNA1, ASN217LYSCHRNA1ASN217LYSrs137852798MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL
100690.00021006902CHRNA1CHRNA1, VAL156METCHRNA1VAL156METrs137852799MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL
100690.00031006903CHRNA1CHRNA1, THR254ILECHRNA1THR254ILErs137852800MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL
100690.00041006904CHRNA1CHRNA1, GLY153SERCHRNA1GLY153SERrs137852801MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL
100690.00051006905CHRNA1CHRNA1, SER269ILECHRNA1SER269ILErs137852802MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL
100690.00061006906CHRNA1CHRNA1, VAL249PHECHRNA1VAL249PHErs137852803MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL
100690.00071006907CHRNA1CHRNA1, VAL285ILECHRNA1VAL285ILErs137852804MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL
100690.00081006908CHRNA1CHRNA1, PHE233VALCHRNA1PHE233VALrs137852805MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL
100690.00091006909CHRNA1CHRNA1, PHE256LEUCHRNA1PHE256LEUrs137852806MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL

Note: all start coordinates in our database are 0-based, not 1-based. See explanation here.