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variants: 6186835

One row per variant. Variant_ID = Chromosome:Position:Ref:Alt (GRCh38). Allele frequencies are gnomAD v4.1 joint (joint + 8 ancestries). Free-text search box covers rsID, gene symbol and amino-acid change.

Data license: Apache License 2.0

This data as json

rowid Variant_ID RSID Chromosome Position Reference_Allele Alternate_Allele Joint_AF African_AF Admixed_American_AF Ashkenazi_Jewish_AF East_Asian_AF Finnish_AF Middle_Eastern_AF Non_Finnish_European_AF South_Asian_AF ENCODE_cCRE_Annotation Repeat_Name Repeat_Class Repeat_Family Functional_Annotation Gene Gene_Detail Exonic_Function Amino_Acid_Change PhastCons_100way PhyloP_100way Evo2_7B_NoRC_Ref Evo2_7B_NoRC_Alt Evo2_7B_NoRC_Delta Evo2_7B_AvgRC_Ref Evo2_7B_AvgRC_Alt Evo2_7B_AvgRC_Delta Evo2_7B_WeightedRC_Ref Evo2_7B_WeightedRC_Alt Evo2_7B_WeightedRC_Delta Evo2_40B_NoRC_Ref Evo2_40B_NoRC_Alt Evo2_40B_NoRC_Delta Evo2_40B_AvgRC_Ref Evo2_40B_AvgRC_Alt Evo2_40B_AvgRC_Delta Evo2_40B_WeightedRC_Ref Evo2_40B_WeightedRC_Alt Evo2_40B_WeightedRC_Delta MAF_tier AF_bin SCREEN_V4_Classes SCREEN_V4_Accessions SCREEN_V4_Overlap_Count
6186835 8:97300820:T:C rs62508969 8 97300820 T C 0.533673 0.676269 0.451119 0.476072 0.230238 0.472862 0.568702 0.518134 0.39995 Intergenic L1PA2 LINE L1 intergenic TSPYL5;SNORD3H dist=22892;dist=57445         -31788.19140625 -31853.828125 -65.63671875 -32243.357421875 -32278.90625 -35.548828125 -30106.571230928 -30155.0104407673 -48.4392098392709 -15750.8203125 -15576.30859375 174.51171875 -18009.9604492188 -15850.544921875 2159.41552734375 -15693.0058139421 -14592.7204070785 1100.28540686359 Q5_80-100% AF_0.4-0.6     0
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