VARIANTS

Users can search for variant data occurring on our collected genes. For each variant, we retrieved its basic annotation (gene, transcript, protein position, wildtype and mutant amino acid, codons), its association study statistics (sourced from Genebass ) and corresponding variant effect prediction scores (sourced from Ensembl ) from over 41 algorithms, including SIFT, Polyphen, PrimateAI, and AlphaMissense, normalized to facilitate comparisons. As an example, the image on the right shows violin plots summarizing effect prediction scores of 10 variants with means of these scores >= 0.7 in gene TNFSF11

Atc code example

Enter a genename, gene Ensembl ID or variant in Ensembl format

Kindly note input format for variant: Chromosome_Coordinate_Reference/Alternative allele, e.g., 20_50581449_C/G

Random variant examples

Variant ID Gene ID Gene symbol Primary transcript Details
11_3666275_T/C ENSG00000129749 CHRNA10 ENST00000250699 See variant effect scores and associations
22_50247722_C/G ENSG00000100429 HDAC10 ENST00000216271 See variant effect scores and associations
1_237590765_G/A ENSG00000198626 RYR2 ENST00000366574 See variant effect scores and associations
5_175442413_C/T ENSG00000184845 DRD1 ENST00000393752 See variant effect scores and associations
20_63534949_T/A ENSG00000101213 PTK6 ENST00000542869 See variant effect scores and associations
12_22065181_A/G ENSG00000111726 CMAS ENST00000229329 See variant effect scores and associations
5_40762886_A/C ENSG00000132356 PRKAA1 ENST00000397128 See variant effect scores and associations
X_151970200_G/T ENSG00000102287 GABRE ENST00000370328 See variant effect scores and associations
17_82079214_C/T ENSG00000169710 FASN ENST00000306749 See variant effect scores and associations
16_58045351_G/A ENSG00000102996 MMP15 ENST00000219271 See variant effect scores and associations
2_29228896_C/T ENSG00000171094 ALK ENST00000389048 See variant effect scores and associations
1_226365109_A/G ENSG00000143799 PARP1 ENST00000366794 See variant effect scores and associations
10_114044758_G/A ENSG00000043591 ADRB1 ENST00000369295 See variant effect scores and associations
11_89191217_T/C ENSG00000077498 TYR ENST00000263321 See variant effect scores and associations
19_8938018_A/G ENSG00000181143 MUC16 ENST00000397910 See variant effect scores and associations
1_16131736_C/T ENSG00000142627 EPHA2 ENST00000358432 See variant effect scores and associations
8_89790169_C/T ENSG00000104312 RIPK2 ENST00000220751 See variant effect scores and associations
20_23048334_C/G ENSG00000178726 THBD ENST00000377103 See variant effect scores and associations
19_10114491_C/G ENSG00000244165 P2RY11 ENST00000321826 See variant effect scores and associations
3_119807236_G/T ENSG00000144852 NR1I2 ENST00000393716 See variant effect scores and associations