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variants: 2554565

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
2554565 18:48654505:A:G rs299757 18 48654505 A G 0.23822 0.385257 0.146466 0.200461 0.055577 0.224694 0.170068 0.189027 0.202697 Intronic L1PA6 LINE L1 intronic CTIF       0.0525 0.237 -31528.37890625 -31518.23046875 10.1484375 -31882.490234375 -31885.70703125 -3.216796875 -29504.2040356116 -29499.3337723549 4.87026325662373 -15639.974609375 -15622.677734375 17.296875 -18002.7744140625 -15858.6416015625 2144.1328125 -15612.1336947771 -14542.6343552636 1069.49933951351 Q3_40-60% AF_0-0.2     0
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