U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Gene

Items: 1 to 20 of 6974

1.

rs1491550872 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    TA>- [Show Flanks]
    Chromosome:
    19:2993026 (GRCh38)
    19:2993024 (GRCh37)
    Canonical SPDI:
    NC_000019.10:2993025:TA:
    Gene:
    TLE6 (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    -=0.00017/2 (ALFA)
    HGVS:
    2.

    rs1491542365 has merged into rs377287142 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
      Chromosome:
      19:2993039 (GRCh38)
      19:2993037 (GRCh37)
      Canonical SPDI:
      NC_000019.10:2993026:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:2993026:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:2993026:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:2993026:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:2993026:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:2993026:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:2993026:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:2993026:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:2993026:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:2993026:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:2993026:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:2993026:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:2993026:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:2993026:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:2993026:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:2993026:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:2993026:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:2993026:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:2993026:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:2993026:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:2993026:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:2993026:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:2993026:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
      Gene:
      TLE6 (Varview)
      Functional Consequence:
      intron_variant,genic_downstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      AAAAAAAAAAAA=0./0 (ALFA)
      AAAAAAAAAAA=0./0 (GENOME_DK)
      HGVS:
      NC_000019.10:g.2993039_2993053del, NC_000019.10:g.2993040_2993053del, NC_000019.10:g.2993041_2993053del, NC_000019.10:g.2993042_2993053del, NC_000019.10:g.2993043_2993053del, NC_000019.10:g.2993044_2993053del, NC_000019.10:g.2993045_2993053del, NC_000019.10:g.2993046_2993053del, NC_000019.10:g.2993047_2993053del, NC_000019.10:g.2993048_2993053del, NC_000019.10:g.2993049_2993053del, NC_000019.10:g.2993050_2993053del, NC_000019.10:g.2993051_2993053del, NC_000019.10:g.2993052_2993053del, NC_000019.10:g.2993053del, NC_000019.10:g.2993053dup, NC_000019.10:g.2993052_2993053dup, NC_000019.10:g.2993051_2993053dup, NC_000019.10:g.2993050_2993053dup, NC_000019.10:g.2993049_2993053dup, NC_000019.10:g.2993048_2993053dup, NC_000019.10:g.2993047_2993053dup, NC_000019.10:g.2993046_2993053dup, NC_000019.9:g.2993037_2993051del, NC_000019.9:g.2993038_2993051del, NC_000019.9:g.2993039_2993051del, NC_000019.9:g.2993040_2993051del, NC_000019.9:g.2993041_2993051del, NC_000019.9:g.2993042_2993051del, NC_000019.9:g.2993043_2993051del, NC_000019.9:g.2993044_2993051del, NC_000019.9:g.2993045_2993051del, NC_000019.9:g.2993046_2993051del, NC_000019.9:g.2993047_2993051del, NC_000019.9:g.2993048_2993051del, NC_000019.9:g.2993049_2993051del, NC_000019.9:g.2993050_2993051del, NC_000019.9:g.2993051del, NC_000019.9:g.2993051dup, NC_000019.9:g.2993050_2993051dup, NC_000019.9:g.2993049_2993051dup, NC_000019.9:g.2993048_2993051dup, NC_000019.9:g.2993047_2993051dup, NC_000019.9:g.2993046_2993051dup, NC_000019.9:g.2993045_2993051dup, NC_000019.9:g.2993044_2993051dup, NG_051563.1:g.20625_20639del, NG_051563.1:g.20626_20639del, NG_051563.1:g.20627_20639del, NG_051563.1:g.20628_20639del, NG_051563.1:g.20629_20639del, NG_051563.1:g.20630_20639del, NG_051563.1:g.20631_20639del, NG_051563.1:g.20632_20639del, NG_051563.1:g.20633_20639del, NG_051563.1:g.20634_20639del, NG_051563.1:g.20635_20639del, NG_051563.1:g.20636_20639del, NG_051563.1:g.20637_20639del, NG_051563.1:g.20638_20639del, NG_051563.1:g.20639del, NG_051563.1:g.20639dup, NG_051563.1:g.20638_20639dup, NG_051563.1:g.20637_20639dup, NG_051563.1:g.20636_20639dup, NG_051563.1:g.20635_20639dup, NG_051563.1:g.20634_20639dup, NG_051563.1:g.20633_20639dup, NG_051563.1:g.20632_20639dup
      3.

      rs1491538821 [Homo sapiens]
        Variant type:
        INS
        Alleles:
        ->C [Show Flanks]
        Chromosome:
        19:2985400 (GRCh38)
        19:2985399 (GRCh37)
        Canonical SPDI:
        NC_000019.10:2985400::C
        Gene:
        TLE6 (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        C=0./0 (ALFA)
        HGVS:
        4.

        rs1491511957 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ->TAT [Show Flanks]
          Chromosome:
          19:2990641 (GRCh38)
          19:2990640 (GRCh37)
          Canonical SPDI:
          NC_000019.10:2990641:TAT:TATTAT
          Gene:
          TLE6 (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TATTAT=0./0 (ALFA)
          TAT=0.000004/1 (TOPMED)
          TAT=0.000016/1 (GnomAD)
          HGVS:
          5.

          rs1491508971 has merged into rs1158204473 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            TTTTTTTTTTTTT>-,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
            Chromosome:
            19:2985408 (GRCh38)
            19:2985406 (GRCh37)
            Canonical SPDI:
            NC_000019.10:2985399:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000019.10:2985399:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:2985399:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:2985399:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:2985399:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:2985399:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:2985399:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:2985399:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:2985399:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:2985399:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:2985399:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:2985399:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:2985399:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:2985399:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:2985399:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:2985399:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:2985399:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:2985399:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:2985399:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:2985399:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:2985399:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:2985399:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:2985399:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
            Gene:
            TLE6 (Varview)
            Functional Consequence:
            genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            TTTTTTTTTTT=0./0 (ALFA)
            HGVS:
            NC_000019.10:g.2985408_2985420del, NC_000019.10:g.2985411_2985420del, NC_000019.10:g.2985412_2985420del, NC_000019.10:g.2985414_2985420del, NC_000019.10:g.2985415_2985420del, NC_000019.10:g.2985416_2985420del, NC_000019.10:g.2985417_2985420del, NC_000019.10:g.2985418_2985420del, NC_000019.10:g.2985419_2985420del, NC_000019.10:g.2985420del, NC_000019.10:g.2985420dup, NC_000019.10:g.2985419_2985420dup, NC_000019.10:g.2985418_2985420dup, NC_000019.10:g.2985417_2985420dup, NC_000019.10:g.2985416_2985420dup, NC_000019.10:g.2985415_2985420dup, NC_000019.10:g.2985414_2985420dup, NC_000019.10:g.2985413_2985420dup, NC_000019.10:g.2985412_2985420dup, NC_000019.10:g.2985411_2985420dup, NC_000019.10:g.2985410_2985420dup, NC_000019.10:g.2985409_2985420dup, NC_000019.10:g.2985408_2985420dup, NC_000019.9:g.2985406_2985418del, NC_000019.9:g.2985409_2985418del, NC_000019.9:g.2985410_2985418del, NC_000019.9:g.2985412_2985418del, NC_000019.9:g.2985413_2985418del, NC_000019.9:g.2985414_2985418del, NC_000019.9:g.2985415_2985418del, NC_000019.9:g.2985416_2985418del, NC_000019.9:g.2985417_2985418del, NC_000019.9:g.2985418del, NC_000019.9:g.2985418dup, NC_000019.9:g.2985417_2985418dup, NC_000019.9:g.2985416_2985418dup, NC_000019.9:g.2985415_2985418dup, NC_000019.9:g.2985414_2985418dup, NC_000019.9:g.2985413_2985418dup, NC_000019.9:g.2985412_2985418dup, NC_000019.9:g.2985411_2985418dup, NC_000019.9:g.2985410_2985418dup, NC_000019.9:g.2985409_2985418dup, NC_000019.9:g.2985408_2985418dup, NC_000019.9:g.2985407_2985418dup, NC_000019.9:g.2985406_2985418dup, NG_051563.1:g.12994_13006del, NG_051563.1:g.12997_13006del, NG_051563.1:g.12998_13006del, NG_051563.1:g.13000_13006del, NG_051563.1:g.13001_13006del, NG_051563.1:g.13002_13006del, NG_051563.1:g.13003_13006del, NG_051563.1:g.13004_13006del, NG_051563.1:g.13005_13006del, NG_051563.1:g.13006del, NG_051563.1:g.13006dup, NG_051563.1:g.13005_13006dup, NG_051563.1:g.13004_13006dup, NG_051563.1:g.13003_13006dup, NG_051563.1:g.13002_13006dup, NG_051563.1:g.13001_13006dup, NG_051563.1:g.13000_13006dup, NG_051563.1:g.12999_13006dup, NG_051563.1:g.12998_13006dup, NG_051563.1:g.12997_13006dup, NG_051563.1:g.12996_13006dup, NG_051563.1:g.12995_13006dup, NG_051563.1:g.12994_13006dup
            6.

            rs1491463231 has merged into rs780906999 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              T>-,TT [Show Flanks]
              Chromosome:
              19:2995055 (GRCh38)
              19:2995053 (GRCh37)
              Canonical SPDI:
              NC_000019.10:2995054:TT:T,NC_000019.10:2995054:TT:TTT
              Gene:
              TLE6 (Varview)
              Functional Consequence:
              3_prime_UTR_variant,genic_downstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              TTT=0./0 (ALFA)
              -=0.00007/1 (TOMMO)
              -=0.00032/2 (ExAC)
              HGVS:
              NC_000019.10:g.2995056del, NC_000019.10:g.2995056dup, NC_000019.9:g.2995054del, NC_000019.9:g.2995054dup, NG_051563.1:g.22642del, NG_051563.1:g.22642dup, NM_024760.3:c.*52del, NM_024760.3:c.*52dup, NM_024760.2:c.*52del, NM_024760.2:c.*52dup, NM_001143986.2:c.*52del, NM_001143986.2:c.*52dup, NM_001143986.1:c.*52del, NM_001143986.1:c.*52dup, XM_011528301.3:c.*52del, XM_011528301.3:c.*52dup, XM_011528301.2:c.*52del, XM_011528301.2:c.*52dup, XM_011528301.1:c.*52del, XM_011528301.1:c.*52dup, XM_011528300.3:c.*52del, XM_011528300.3:c.*52dup, XM_011528300.2:c.*52del, XM_011528300.2:c.*52dup, XM_011528300.1:c.*52del, XM_011528300.1:c.*52dup, XM_005259645.3:c.*52del, XM_005259645.3:c.*52dup, XM_005259645.2:c.*52del, XM_005259645.2:c.*52dup, XM_005259645.1:c.*52del, XM_005259645.1:c.*52dup, XM_024451722.2:c.*52del, XM_024451722.2:c.*52dup, XM_024451722.1:c.*52del, XM_024451722.1:c.*52dup, XM_024451723.2:c.*52del, XM_024451723.2:c.*52dup, XM_024451723.1:c.*52del, XM_024451723.1:c.*52dup, XM_024451724.2:c.*52del, XM_024451724.2:c.*52dup, XM_024451724.1:c.*52del, XM_024451724.1:c.*52dup
              7.

              rs1491423689 has merged into rs200555188 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                TATA>-,TA,TATATA,TATATATA [Show Flanks]
                Chromosome:
                19:2990648 (GRCh38)
                19:2990646 (GRCh37)
                Canonical SPDI:
                NC_000019.10:2990640:ATATATATATA:ATATATA,NC_000019.10:2990640:ATATATATATA:ATATATATA,NC_000019.10:2990640:ATATATATATA:ATATATATATATA,NC_000019.10:2990640:ATATATATATA:ATATATATATATATA
                Gene:
                TLE6 (Varview)
                Functional Consequence:
                intron_variant,genic_downstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                ATATATATA=0./0 (ALFA)
                AT=0.00913/153 (TOMMO)
                AT=0.01397/25 (Korea1K)
                AT=0.22859/881 (ALSPAC)
                AT=0.25485/945 (TWINSUK)
                AT=0.28914/1448 (1000Genomes)
                HGVS:
                8.

                rs1491412201 has merged into rs34723547 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  CCCC>-,C,CC,CCC,CCCCC,CCCCCC,CCCCCCC [Show Flanks]
                  Chromosome:
                  19:2984349 (GRCh38)
                  19:2984347 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:2984340:CCCCCCCCCCCC:CCCCCCCC,NC_000019.10:2984340:CCCCCCCCCCCC:CCCCCCCCC,NC_000019.10:2984340:CCCCCCCCCCCC:CCCCCCCCCC,NC_000019.10:2984340:CCCCCCCCCCCC:CCCCCCCCCCC,NC_000019.10:2984340:CCCCCCCCCCCC:CCCCCCCCCCCCC,NC_000019.10:2984340:CCCCCCCCCCCC:CCCCCCCCCCCCCC,NC_000019.10:2984340:CCCCCCCCCCCC:CCCCCCCCCCCCCCC
                  Gene:
                  TLE6 (Varview)
                  Functional Consequence:
                  genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  CCCCCCCCCCCCCC=0./0 (ALFA)
                  -=0.0138/53 (ALSPAC)
                  -=0.225/9 (GENOME_DK)
                  HGVS:
                  9.

                  rs1491410785 [Homo sapiens]
                    Variant type:
                    DEL
                    Alleles:
                    GT>- [Show Flanks]
                    Chromosome:
                    19:2991376 (GRCh38)
                    19:2991374 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:2991375:GT:
                    Gene:
                    TLE6 (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    -=0./0 (ALFA)
                    -=0.00006/3 (GnomAD)
                    HGVS:
                    10.

                    rs1491410310 [Homo sapiens]
                      Variant type:
                      INS
                      Alleles:
                      ->A,AG,G,GG,TG [Show Flanks]
                      Chromosome:
                      19:2984351 (GRCh38)
                      19:2984350 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:2984351::A,NC_000019.10:2984351::AG,NC_000019.10:2984351::G,NC_000019.10:2984351::GG,NC_000019.10:2984351::TG
                      Gene:
                      TLE6 (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000004/1 (TOPMED)
                      GG=0.000035/1 (TOMMO)
                      HGVS:
                      11.

                      rs1491397269 [Homo sapiens]
                        Variant type:
                        INS
                        Alleles:
                        ->G,GA [Show Flanks]
                        Chromosome:
                        19:2993920 (GRCh38)
                        19:2993919 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:2993920::G,NC_000019.10:2993920::GA
                        Gene:
                        TLE6 (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        GA=0./0 (ALFA)
                        HGVS:
                        12.

                        rs1491307319 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          CT>- [Show Flanks]
                          Chromosome:
                          19:2995313 (GRCh38)
                          19:2995311 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:2995311:TCT:T
                          Gene:
                          TLE6 (Varview)
                          Functional Consequence:
                          downstream_transcript_variant,500B_downstream_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0.042848/698 (ALFA)
                          -=0.001608/27 (TOMMO)
                          -=0.01/6 (NorthernSweden)
                          -=0.011526/21 (Korea1K)
                          -=0.042166/4957 (GnomAD)
                          HGVS:
                          13.

                          rs1491295700 [Homo sapiens]
                            Variant type:
                            SNV:
                            Alleles:
                            ->G
                            Chromosome:
                            no mapping
                            Canonical SPDI:
                            14.

                            rs1491247309 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              ->GTAT,GTATAT,GTATATAT,GTATATATAT [Show Flanks]
                              Chromosome:
                              19:2991376 (GRCh38)
                              19:2991375 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:2991376:T:TGTAT,NC_000019.10:2991376:T:TGTATAT,NC_000019.10:2991376:T:TGTATATAT,NC_000019.10:2991376:T:TGTATATATAT
                              Gene:
                              TLE6 (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              TGTATAT=0./0 (ALFA)
                              HGVS:
                              15.

                              rs1491245487 [Homo sapiens]
                                Variant type:
                                DEL
                                Alleles:
                                CA>- [Show Flanks]
                                Chromosome:
                                19:2993920 (GRCh38)
                                19:2993918 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:2993919:CA:
                                Gene:
                                TLE6 (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                -=0.00008/1 (ALFA)
                                HGVS:
                                16.

                                rs1491108690 has merged into rs1192634565 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  TTTTTTTTTTTT>-,T,TT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                                  Chromosome:
                                  19:2995301 (GRCh38)
                                  19:2995299 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:2995287:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:2995287:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:2995287:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:2995287:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:2995287:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:2995287:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:2995287:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:2995287:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:2995287:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:2995287:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:2995287:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:2995287:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:2995287:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:2995287:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:2995287:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:2995287:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:2995287:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:2995287:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:2995287:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:2995287:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                                  Gene:
                                  TLE6 (Varview)
                                  Functional Consequence:
                                  downstream_transcript_variant,500B_downstream_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  TTTTTTTTTTTTTT=0./0 (ALFA)
                                  HGVS:
                                  NC_000019.10:g.2995301_2995312del, NC_000019.10:g.2995302_2995312del, NC_000019.10:g.2995303_2995312del, NC_000019.10:g.2995306_2995312del, NC_000019.10:g.2995308_2995312del, NC_000019.10:g.2995309_2995312del, NC_000019.10:g.2995310_2995312del, NC_000019.10:g.2995311_2995312del, NC_000019.10:g.2995312del, NC_000019.10:g.2995312dup, NC_000019.10:g.2995311_2995312dup, NC_000019.10:g.2995310_2995312dup, NC_000019.10:g.2995309_2995312dup, NC_000019.10:g.2995308_2995312dup, NC_000019.10:g.2995307_2995312dup, NC_000019.10:g.2995306_2995312dup, NC_000019.10:g.2995305_2995312dup, NC_000019.10:g.2995304_2995312dup, NC_000019.10:g.2995303_2995312dup, NC_000019.10:g.2995302_2995312dup, NC_000019.9:g.2995299_2995310del, NC_000019.9:g.2995300_2995310del, NC_000019.9:g.2995301_2995310del, NC_000019.9:g.2995304_2995310del, NC_000019.9:g.2995306_2995310del, NC_000019.9:g.2995307_2995310del, NC_000019.9:g.2995308_2995310del, NC_000019.9:g.2995309_2995310del, NC_000019.9:g.2995310del, NC_000019.9:g.2995310dup, NC_000019.9:g.2995309_2995310dup, NC_000019.9:g.2995308_2995310dup, NC_000019.9:g.2995307_2995310dup, NC_000019.9:g.2995306_2995310dup, NC_000019.9:g.2995305_2995310dup, NC_000019.9:g.2995304_2995310dup, NC_000019.9:g.2995303_2995310dup, NC_000019.9:g.2995302_2995310dup, NC_000019.9:g.2995301_2995310dup, NC_000019.9:g.2995300_2995310dup, NG_051563.1:g.22887_22898del, NG_051563.1:g.22888_22898del, NG_051563.1:g.22889_22898del, NG_051563.1:g.22892_22898del, NG_051563.1:g.22894_22898del, NG_051563.1:g.22895_22898del, NG_051563.1:g.22896_22898del, NG_051563.1:g.22897_22898del, NG_051563.1:g.22898del, NG_051563.1:g.22898dup, NG_051563.1:g.22897_22898dup, NG_051563.1:g.22896_22898dup, NG_051563.1:g.22895_22898dup, NG_051563.1:g.22894_22898dup, NG_051563.1:g.22893_22898dup, NG_051563.1:g.22892_22898dup, NG_051563.1:g.22891_22898dup, NG_051563.1:g.22890_22898dup, NG_051563.1:g.22889_22898dup, NG_051563.1:g.22888_22898dup
                                  17.

                                  rs1491105198 has merged into rs1555686317 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    TATA>-,TA,TATATA,TATATATA [Show Flanks]
                                    Chromosome:
                                    19:2991431 (GRCh38)
                                    19:2991429 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:2991425:ATATATATA:ATATA,NC_000019.10:2991425:ATATATATA:ATATATA,NC_000019.10:2991425:ATATATATA:ATATATATATA,NC_000019.10:2991425:ATATATATA:ATATATATATATA
                                    Gene:
                                    TLE6 (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    ATATATA=0./0 (ALFA)
                                    AT=0.00018/3 (TOMMO)
                                    -=0.00109/2 (Korea1K)
                                    AT=0.01667/10 (NorthernSweden)
                                    HGVS:
                                    18.

                                    rs1491048324 has merged into rs141348286 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      CCCC>-,C,CC,CCC,CCCCC,CCCCCC,CCCCCCC,CCCCCCCC [Show Flanks]
                                      Chromosome:
                                      19:2995063 (GRCh38)
                                      19:2995061 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:2995056:CCCCCCCCCC:CCCCCC,NC_000019.10:2995056:CCCCCCCCCC:CCCCCCC,NC_000019.10:2995056:CCCCCCCCCC:CCCCCCCC,NC_000019.10:2995056:CCCCCCCCCC:CCCCCCCCC,NC_000019.10:2995056:CCCCCCCCCC:CCCCCCCCCCC,NC_000019.10:2995056:CCCCCCCCCC:CCCCCCCCCCCC,NC_000019.10:2995056:CCCCCCCCCC:CCCCCCCCCCCCC,NC_000019.10:2995056:CCCCCCCCCC:CCCCCCCCCCCCCC
                                      Gene:
                                      TLE6 (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,3_prime_UTR_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      CCCCCCCC=0./0 (ALFA)
                                      -=0.14657/734 (1000Genomes)
                                      HGVS:
                                      NC_000019.10:g.2995063_2995066del, NC_000019.10:g.2995064_2995066del, NC_000019.10:g.2995065_2995066del, NC_000019.10:g.2995066del, NC_000019.10:g.2995066dup, NC_000019.10:g.2995065_2995066dup, NC_000019.10:g.2995064_2995066dup, NC_000019.10:g.2995063_2995066dup, NC_000019.9:g.2995061_2995064del, NC_000019.9:g.2995062_2995064del, NC_000019.9:g.2995063_2995064del, NC_000019.9:g.2995064del, NC_000019.9:g.2995064dup, NC_000019.9:g.2995063_2995064dup, NC_000019.9:g.2995062_2995064dup, NC_000019.9:g.2995061_2995064dup, NG_051563.1:g.22649_22652del, NG_051563.1:g.22650_22652del, NG_051563.1:g.22651_22652del, NG_051563.1:g.22652del, NG_051563.1:g.22652dup, NG_051563.1:g.22651_22652dup, NG_051563.1:g.22650_22652dup, NG_051563.1:g.22649_22652dup, NM_024760.3:c.*59_*62del, NM_024760.3:c.*60_*62del, NM_024760.3:c.*61_*62del, NM_024760.3:c.*62del, NM_024760.3:c.*62dup, NM_024760.3:c.*61_*62dup, NM_024760.3:c.*60_*62dup, NM_024760.3:c.*59_*62dup, NM_024760.2:c.*59_*62del, NM_024760.2:c.*60_*62del, NM_024760.2:c.*61_*62del, NM_024760.2:c.*62del, NM_024760.2:c.*62dup, NM_024760.2:c.*61_*62dup, NM_024760.2:c.*60_*62dup, NM_024760.2:c.*59_*62dup, NM_001143986.2:c.*59_*62del, NM_001143986.2:c.*60_*62del, NM_001143986.2:c.*61_*62del, NM_001143986.2:c.*62del, NM_001143986.2:c.*62dup, NM_001143986.2:c.*61_*62dup, NM_001143986.2:c.*60_*62dup, NM_001143986.2:c.*59_*62dup, NM_001143986.1:c.*59_*62del, NM_001143986.1:c.*60_*62del, NM_001143986.1:c.*61_*62del, NM_001143986.1:c.*62del, NM_001143986.1:c.*62dup, NM_001143986.1:c.*61_*62dup, NM_001143986.1:c.*60_*62dup, NM_001143986.1:c.*59_*62dup, XM_011528301.3:c.*59_*62del, XM_011528301.3:c.*60_*62del, XM_011528301.3:c.*61_*62del, XM_011528301.3:c.*62del, XM_011528301.3:c.*62dup, XM_011528301.3:c.*61_*62dup, XM_011528301.3:c.*60_*62dup, XM_011528301.3:c.*59_*62dup, XM_011528301.2:c.*59_*62del, XM_011528301.2:c.*60_*62del, XM_011528301.2:c.*61_*62del, XM_011528301.2:c.*62del, XM_011528301.2:c.*62dup, XM_011528301.2:c.*61_*62dup, XM_011528301.2:c.*60_*62dup, XM_011528301.2:c.*59_*62dup, XM_011528301.1:c.*59_*62del, XM_011528301.1:c.*60_*62del, XM_011528301.1:c.*61_*62del, XM_011528301.1:c.*62del, XM_011528301.1:c.*62dup, XM_011528301.1:c.*61_*62dup, XM_011528301.1:c.*60_*62dup, XM_011528301.1:c.*59_*62dup, XM_011528300.3:c.*59_*62del, XM_011528300.3:c.*60_*62del, XM_011528300.3:c.*61_*62del, XM_011528300.3:c.*62del, XM_011528300.3:c.*62dup, XM_011528300.3:c.*61_*62dup, XM_011528300.3:c.*60_*62dup, XM_011528300.3:c.*59_*62dup, XM_011528300.2:c.*59_*62del, XM_011528300.2:c.*60_*62del, XM_011528300.2:c.*61_*62del, XM_011528300.2:c.*62del, XM_011528300.2:c.*62dup, XM_011528300.2:c.*61_*62dup, XM_011528300.2:c.*60_*62dup, XM_011528300.2:c.*59_*62dup, XM_011528300.1:c.*59_*62del, XM_011528300.1:c.*60_*62del, XM_011528300.1:c.*61_*62del, XM_011528300.1:c.*62del, XM_011528300.1:c.*62dup, XM_011528300.1:c.*61_*62dup, XM_011528300.1:c.*60_*62dup, XM_011528300.1:c.*59_*62dup, XM_005259645.3:c.*59_*62del, XM_005259645.3:c.*60_*62del, XM_005259645.3:c.*61_*62del, XM_005259645.3:c.*62del, XM_005259645.3:c.*62dup, XM_005259645.3:c.*61_*62dup, XM_005259645.3:c.*60_*62dup, XM_005259645.3:c.*59_*62dup, XM_005259645.2:c.*59_*62del, XM_005259645.2:c.*60_*62del, XM_005259645.2:c.*61_*62del, XM_005259645.2:c.*62del, XM_005259645.2:c.*62dup, XM_005259645.2:c.*61_*62dup, XM_005259645.2:c.*60_*62dup, XM_005259645.2:c.*59_*62dup, XM_005259645.1:c.*59_*62del, XM_005259645.1:c.*60_*62del, XM_005259645.1:c.*61_*62del, XM_005259645.1:c.*62del, XM_005259645.1:c.*62dup, XM_005259645.1:c.*61_*62dup, XM_005259645.1:c.*60_*62dup, XM_005259645.1:c.*59_*62dup, XM_024451722.2:c.*59_*62del, XM_024451722.2:c.*60_*62del, XM_024451722.2:c.*61_*62del, XM_024451722.2:c.*62del, XM_024451722.2:c.*62dup, XM_024451722.2:c.*61_*62dup, XM_024451722.2:c.*60_*62dup, XM_024451722.2:c.*59_*62dup, XM_024451722.1:c.*59_*62del, XM_024451722.1:c.*60_*62del, XM_024451722.1:c.*61_*62del, XM_024451722.1:c.*62del, XM_024451722.1:c.*62dup, XM_024451722.1:c.*61_*62dup, XM_024451722.1:c.*60_*62dup, XM_024451722.1:c.*59_*62dup, XM_024451723.2:c.*59_*62del, XM_024451723.2:c.*60_*62del, XM_024451723.2:c.*61_*62del, XM_024451723.2:c.*62del, XM_024451723.2:c.*62dup, XM_024451723.2:c.*61_*62dup, XM_024451723.2:c.*60_*62dup, XM_024451723.2:c.*59_*62dup, XM_024451723.1:c.*59_*62del, XM_024451723.1:c.*60_*62del, XM_024451723.1:c.*61_*62del, XM_024451723.1:c.*62del, XM_024451723.1:c.*62dup, XM_024451723.1:c.*61_*62dup, XM_024451723.1:c.*60_*62dup, XM_024451723.1:c.*59_*62dup, XM_024451724.2:c.*59_*62del, XM_024451724.2:c.*60_*62del, XM_024451724.2:c.*61_*62del, XM_024451724.2:c.*62del, XM_024451724.2:c.*62dup, XM_024451724.2:c.*61_*62dup, XM_024451724.2:c.*60_*62dup, XM_024451724.2:c.*59_*62dup, XM_024451724.1:c.*59_*62del, XM_024451724.1:c.*60_*62del, XM_024451724.1:c.*61_*62del, XM_024451724.1:c.*62del, XM_024451724.1:c.*62dup, XM_024451724.1:c.*61_*62dup, XM_024451724.1:c.*60_*62dup, XM_024451724.1:c.*59_*62dup
                                      19.

                                      rs1491013508 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        CA>- [Show Flanks]
                                        Chromosome:
                                        19:2990656 (GRCh38)
                                        19:2990654 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:2990654:ACA:A
                                        Gene:
                                        TLE6 (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        -=0.00044/26 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1490846335 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A,G,T [Show Flanks]
                                          Chromosome:
                                          19:2978266 (GRCh38)
                                          19:2978264 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:2978265:C:A,NC_000019.10:2978265:C:G,NC_000019.10:2978265:C:T
                                          Gene:
                                          TLE6 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000019.10:g.2978266C>A, NC_000019.10:g.2978266C>G, NC_000019.10:g.2978266C>T, NC_000019.9:g.2978264C>A, NC_000019.9:g.2978264C>G, NC_000019.9:g.2978264C>T, NG_051563.1:g.5852C>A, NG_051563.1:g.5852C>G, NG_051563.1:g.5852C>T, NM_001143986.2:c.33C>A, NM_001143986.2:c.33C>G, NM_001143986.2:c.33C>T, NM_001143986.1:c.33C>A, NM_001143986.1:c.33C>G, NM_001143986.1:c.33C>T, NR_138612.2:n.116C>A, NR_138612.2:n.116C>G, NR_138612.2:n.116C>T, NR_138612.1:n.147C>A, NR_138612.1:n.147C>G, NR_138612.1:n.147C>T, XM_011528300.3:c.33C>A, XM_011528300.3:c.33C>G, XM_011528300.3:c.33C>T, XM_011528300.2:c.33C>A, XM_011528300.2:c.33C>G, XM_011528300.2:c.33C>T, XM_011528300.1:c.33C>A, XM_011528300.1:c.33C>G, XM_011528300.1:c.33C>T, XM_005259645.3:c.33C>A, XM_005259645.3:c.33C>G, XM_005259645.3:c.33C>T, XM_005259645.2:c.33C>A, XM_005259645.2:c.33C>G, XM_005259645.2:c.33C>T, XM_005259645.1:c.33C>A, XM_005259645.1:c.33C>G, XM_005259645.1:c.33C>T, NM_032760.2:c.33C>A, NM_032760.2:c.33C>G, NM_032760.2:c.33C>T, NM_032760.1:c.33C>A, NM_032760.1:c.33C>G, NM_032760.1:c.33C>T

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Find related data

                                          Recent activity

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...