Data Browser v2

Examples - Gene: TBK1, Region: 21:33032075-33040899, Variant: 14-21162090-G-A


Note This screen lists all Ensembl-based annotations for the selected variant. This includes annotations with overlapping genes.

Variant: 21-33036161-A-G Allele Count: 1   Sample Count: 2638   MAF: 1.895E-4   CADD Score: 20.4

Gene Transcript Codon Change AA Change CCDS Consequence PolyPhen-2 HumVar SIFT
SNORA81 ENST00000458922 - - - upstream - -
AP000253.1 ENST00000449339 - - - upstream - -
SOD1 ENST00000270142 cAt/cGt H44R CCDS33536.1 missense probably_damaging(0.999) tolerated(0.2)
SOD1 ENST00000389995 cAt/cGt H25R - missense probably_damaging(0.999) tolerated(0.12)
SOD1 ENST00000470944 - - - noncoding exon - -
SOD1 ENST00000476106 - - - noncoding exon - -