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variants: 4648631

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
4648631 5:116679171:T:C rs111626143 5 116679171 T C 0.321152 0.140777 0.428188 0.424251 0.511601 0.270645 0.384354 0.38548 0.442188 Intergenic L1PA7 LINE L1 intergenic SEMA6A-AS2;LINC02214 dist=67973;dist=63820     0.0205 -0.1735 -28302.171875 -28301.7734375 0.3984375 -28290.7275390625 -28289.4780273438 1.24951171875 -27805.550149098 -27804.4883936109 1.06175548714964 -16610.4384765625 -13799.2314453125 2811.20703125 -16631.240234375 -13846.2109375 2785.029296875 -16223.3185069097 -13468.4101420828 2754.90836482695 Q5_80-100% AF_0.2-0.4     0
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