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variants: 720269

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
720269 10:58298340:G:A rs181077993 10 58298340 G A 0.155958 0.230377 0.127635 0.115052 0.308726 0.138384 0.0986395 0.111989 0.151496 Intergenic L1PA3 LINE L1 intergenic CISD1;ENSG00000228527 dist=8754;dist=6213     0.1645 -0.979 -31609.390625 -31652.5546875 -43.1640625 -31936.2412109375 -31965.33984375 -29.0986328125 -29522.0360658845 -29551.7842778811 -29.7482119965607 -15625.6484375 -15362.513671875 263.134765625 -18616.6982421875 -16068.9677734375 2547.73046875 -16474.182194613 -15121.1542841733 1353.02791043962 Q2_20-40% AF_0-0.2     0
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