|
|
Database: hg18 Primary Table: omimAv Row Count: 35,598   Data last updated: 2025-04-30
Format description: OMIM AV On download server: MariaDB table dump directory
field | example | SQL type | info | description |
avId | 100650.0001 | varchar(40) | values | MIM AV Number |
omimId | 100650 | int(11) | range | MIM ID |
seqNo | 1 | int(11) | range | sequence number |
geneSymbol | ALDH2 | varchar(255) | values | gene symbol |
replacement | ALDH2, GLU504LYS | varchar(255) | values | AA replacement |
repl1 | ALDH2 | varchar(255) | values | part 1 of AA replacement |
repl2 | GLU504LYS | varchar(255) | values | part 2 of AA replacement |
dbSnpId | rs671 | varchar(255) | values | dbSNP ID if available |
description | ALCOHOL SENSITIVITY, ACUTE | blob | values | description |
|
| |
|
|
Connected Tables and Joining Fields
|
|
Sample Rows
|
|
avId | omimId | seqNo | geneSymbol | replacement | repl1 | repl2 | dbSnpId | description |
---|
100650.0001 | 100650 | 1 | ALDH2 | ALDH2, GLU504LYS | ALDH2 | GLU504LYS | rs671 | ALCOHOL SENSITIVITY, ACUTE |
100690.0001 | 100690 | 1 | CHRNA1 | CHRNA1, ASN217LYS | CHRNA1 | ASN217LYS | rs137852798 | MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL |
100690.0002 | 100690 | 2 | CHRNA1 | CHRNA1, VAL156MET | CHRNA1 | VAL156MET | rs137852799 | MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL |
100690.0003 | 100690 | 3 | CHRNA1 | CHRNA1, THR254ILE | CHRNA1 | THR254ILE | rs137852800 | MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL |
100690.0004 | 100690 | 4 | CHRNA1 | CHRNA1, GLY153SER | CHRNA1 | GLY153SER | rs137852801 | MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL |
100690.0005 | 100690 | 5 | CHRNA1 | CHRNA1, SER269ILE | CHRNA1 | SER269ILE | rs137852802 | MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL |
100690.0006 | 100690 | 6 | CHRNA1 | CHRNA1, VAL249PHE | CHRNA1 | VAL249PHE | rs137852803 | MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL |
100690.0007 | 100690 | 7 | CHRNA1 | CHRNA1, VAL285ILE | CHRNA1 | VAL285ILE | rs137852804 | MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL |
100690.0008 | 100690 | 8 | CHRNA1 | CHRNA1, PHE233VAL | CHRNA1 | PHE233VAL | rs137852805 | MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL |
100690.0009 | 100690 | 9 | CHRNA1 | CHRNA1, PHE256LEU | CHRNA1 | PHE256LEU | rs137852806 | MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL |
|
Note: all start coordinates in our database are 0-based, not
1-based. See explanation
here.
| |
|
|
|