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: 21-33039603-A-C Allele Count: 5   Sample Count: 2635   MAF: 9.488E-4   CADD Score: 0.265

Gene Transcript Codon Change AA Change CCDS Consequence PolyPhen-2 HumVar SIFT
SNORA81 ENST00000458922 - - - downstream - -
SCAF4 ENST00000286835 - - CCDS33537.1 downstream - -
SCAF4 ENST00000399804 - - CCDS46644.1 downstream - -
SCAF4 ENST00000434667 - - CCDS54482.1 downstream - -
SOD1 ENST00000270142 gAc/gCc D91A CCDS33536.1 missense benign(0.003) tolerated(0.07)
SOD1 ENST00000389995 gAc/gCc D72A - missense benign(0.002) tolerated(0.06)
SOD1 ENST00000470944 - - - noncoding exon - -
SOD1 ENST00000476106 - - - noncoding exon - -