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variants: 273729

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
273729 1:233344986:T:C rs147575191 1 233344986 T C 0.424186 0.570382 0.550661 0.334198 0.509868 0.258363 0.363014 0.329724 0.464464 Intronic L1PA6 LINE L1 intronic MAP3K21       0.011 -1.0955 -29090.83984375 -29101.8828125 -11.04296875 -29108.427734375 -29118.486328125 -10.05859375 -28134.2963845204 -28145.3554101269 -11.0590256065552 -14979.734375 -13075.3046875 1904.4296875 -16194.271484375 -13574.78515625 2619.486328125 -15506.6036514351 -13225.5096063657 2281.09404506941 Q4_60-80% AF_0.2-0.4 CA EH38E3996198 1
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