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variants: 1136943

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
1136943 11:93418344:A:C rs12365897 11 93418344 A C 0.301093 0.115169 0.307748 0.350145 0.162795 0.368345 0.227273 0.420028 0.170346 Intronic L1PA3 LINE L1 intronic DEUP1       0.1825 0.061 -32029.4609375 -32084.1328125 -54.671875 -32313.4404296875 -32346.791015625 -33.3505859375 -30324.8862722377 -30364.8606969501 -39.9744247123781 -15779.3359375 -15611.21875 168.1171875 -18855.8256835938 -16493.9331054688 2361.892578125 -16840.7750203227 -15635.2997069824 1205.47531334025 Q5_80-100% AF_0.4-0.6     0
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