View Validated Polymorphisms
Polymorphisms listed here are variants that have been observed in unaffected human
population at frequency > 0.001 in at least one of the following databases: 1000G, gnomAD, or ESP6500.
| Genomic Description (hg38) | cDNA Description | Protein Description | Exon No | Effect | SNP Link | gnomAD Link | CLINVAR Link | PubMed | Source Databases |
|---|---|---|---|---|---|---|---|---|---|
| g.7661842_7661844del | c.*7765_*7767del | p.? | 3'UTR | NA | 144289006 | 17-7565159-ACCT-A | dbSNP150|gnomAD|1000G | ||
| g.7662019_7662020del | c.*7589_*7590del | p.? | 3'UTR | NA | 756472945 | 17-7565336-AAG-A | dbSNP150|gnomAD | ||
| g.7662034C>A | c.*7575G>T | p.? | 3'UTR | NA | 140272752 | 17-7565352-C-A | dbSNP150|gnomAD|1000G | ||
| g.7662363A>G | c.*7246T>C | p.? | 3'UTR | NA | 78496430 | 17-7565681-A-G | dbSNP150|gnomAD|1000G | ||
| g.7662482T>G | c.*7127A>C | p.? | 3'UTR | NA | 116840070 | 17-7565800-T-G | dbSNP150|gnomAD|1000G | ||
| g.7662644G>T | c.*6965C>A | p.? | 3'UTR | NA | 1308065452 | 17-7565962-G-T | dbSNP151|gnomAD | ||
| g.7662815A>G | c.*6794T>C | p.? | 3'UTR | NA | 12600850 | 17-7566133-A-G | dbSNP150|gnomAD|1000G | ||
| g.7662859G>T | c.*6750C>A | p.? | 3'UTR | NA | 879941509 | 17-7566177-G-T | dbSNP150|gnomAD | ||
| g.7662860A>G | c.*6749T>C | p.? | 3'UTR | NA | 879324481 | 17-7566178-A-G | dbSNP150|gnomAD | ||
| g.7662867del | c.*6742del | p.? | 3'UTR | NA | 879319708 | 17-7566184-CT-C | dbSNP150|gnomAD |