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: 21-33032096-C-T Allele Count: 7   Sample Count: 2609   MAF: 0.0013   CADD Score: 27.3

Gene Transcript Codon Change AA Change CCDS Consequence PolyPhen-2 HumVar SIFT
SNORA81 ENST00000458922 - - - upstream - -
AP000253.1 ENST00000449339 - - - upstream - -
SOD1 ENST00000270142 gCc/gTc A5V CCDS33536.1 missense probably_damaging(0.982) deleterious(0)
SOD1 ENST00000389995 gCc/gTc A5V - missense; splice region benign(0.067) tolerated(0.08)
SOD1 ENST00000470944 - - - noncoding exon - -
SOD1 ENST00000476106 - - - noncoding exon - -