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variants: 5467601

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
5467601 7:104119959:TG:T rs200264595 7 104119959 TG T 0.325854 0.410964 0.443554 0.299481 0.534388 0.293877 0.251701 0.243207 0.31041 Intergenic L1PA4 LINE L1           0.4265 0.083 -32543.0576171875 -32540.1123046875 2.9453125 -32229.5815429688 -32238.2416992188 -8.66015625 -34278.6933877096 -34289.7347474429 -11.0413597332808 -20987.6748046875 -16240.123046875 4747.5517578125 -18376.3745117188 -15875.6684570312 2500.7060546875 -20674.4704896393 -16999.8336133986 3674.63687624074 Q3_40-60% AF_0.2-0.4     0
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