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variants: 6122066

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
6122066 8:70727532:C:T rs148544952 8 70727532 C T 0.0726161 0.060164 0.0555847 0.15072 0.000773395 0.0600757 0.0544218 0.0888202 0.0400914 Intronic AluSx4 SINE Alu ncRNA_intronic ENSG00000285579       0.012 0.298 -22718.78515625 -22701.42578125 17.359375 -22682.6293945312 -22668.4255371094 14.203857421875 -19379.9378861794 -19367.345119337 12.5927668424229 -11995.8259277344 -11948.8103027344 47.015625 -15236.237487793 -12654.0173339844 2582.22015380859 -12993.6418915635 -11185.0275165659 1808.61437499757 Q1_0-20% AF_0-0.2     0
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