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Items: 1 to 20 of 6880

1.

rs1491561512 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    TC>- [Show Flanks]
    Chromosome:
    11:126654356 (GRCh38)
    11:126524251 (GRCh37)
    Canonical SPDI:
    NC_000011.10:126654355:TC:
    Gene:
    KIRREL3 (Varview), LOC101929427 (Varview)
    Functional Consequence:
    genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    -=0./0 (ALFA)
    HGVS:
    2.

    rs1491356706 has merged into rs56325662 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ACAC>-,AC,ACACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACAC [Show Flanks]
      Chromosome:
      11:126681624 (GRCh38)
      11:126551519 (GRCh37)
      Canonical SPDI:
      NC_000011.10:126681609:ACACACACACACACACAC:ACACACACACACAC,NC_000011.10:126681609:ACACACACACACACACAC:ACACACACACACACAC,NC_000011.10:126681609:ACACACACACACACACAC:ACACACACACACACACACAC,NC_000011.10:126681609:ACACACACACACACACAC:ACACACACACACACACACACAC,NC_000011.10:126681609:ACACACACACACACACAC:ACACACACACACACACACACACAC,NC_000011.10:126681609:ACACACACACACACACAC:ACACACACACACACACACACACACAC,NC_000011.10:126681609:ACACACACACACACACAC:ACACACACACACACACACACACACACAC,NC_000011.10:126681609:ACACACACACACACACAC:ACACACACACACACACACACACACACACAC,NC_000011.10:126681609:ACACACACACACACACAC:ACACACACACACACACACACACACACACACAC,NC_000011.10:126681609:ACACACACACACACACAC:ACACACACACACACACACACACACACACACACAC,NC_000011.10:126681609:ACACACACACACACACAC:ACACACACACACACACACACACACACACACACACAC,NC_000011.10:126681609:ACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACAC,NC_000011.10:126681609:ACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACAC
      Gene:
      KIRREL3 (Varview), LOC101929427 (Varview)
      Functional Consequence:
      intron_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      ACACACACACACACACACACAC=0./0 (ALFA)
      ACACACACAC=0.35/14 (GENOME_DK)
      HGVS:
      NC_000011.10:g.126681610AC[7], NC_000011.10:g.126681610AC[8], NC_000011.10:g.126681610AC[10], NC_000011.10:g.126681610AC[11], NC_000011.10:g.126681610AC[12], NC_000011.10:g.126681610AC[13], NC_000011.10:g.126681610AC[14], NC_000011.10:g.126681610AC[15], NC_000011.10:g.126681610AC[16], NC_000011.10:g.126681610AC[17], NC_000011.10:g.126681610AC[18], NC_000011.10:g.126681610AC[19], NC_000011.10:g.126681610AC[20], NC_000011.9:g.126551505AC[7], NC_000011.9:g.126551505AC[8], NC_000011.9:g.126551505AC[10], NC_000011.9:g.126551505AC[11], NC_000011.9:g.126551505AC[12], NC_000011.9:g.126551505AC[13], NC_000011.9:g.126551505AC[14], NC_000011.9:g.126551505AC[15], NC_000011.9:g.126551505AC[16], NC_000011.9:g.126551505AC[17], NC_000011.9:g.126551505AC[18], NC_000011.9:g.126551505AC[19], NC_000011.9:g.126551505AC[20], NG_012971.2:g.324243GT[7], NG_012971.2:g.324243GT[8], NG_012971.2:g.324243GT[10], NG_012971.2:g.324243GT[11], NG_012971.2:g.324243GT[12], NG_012971.2:g.324243GT[13], NG_012971.2:g.324243GT[14], NG_012971.2:g.324243GT[15], NG_012971.2:g.324243GT[16], NG_012971.2:g.324243GT[17], NG_012971.2:g.324243GT[18], NG_012971.2:g.324243GT[19], NG_012971.2:g.324243GT[20], NG_012971.1:g.324245GT[7], NG_012971.1:g.324245GT[8], NG_012971.1:g.324245GT[10], NG_012971.1:g.324245GT[11], NG_012971.1:g.324245GT[12], NG_012971.1:g.324245GT[13], NG_012971.1:g.324245GT[14], NG_012971.1:g.324245GT[15], NG_012971.1:g.324245GT[16], NG_012971.1:g.324245GT[17], NG_012971.1:g.324245GT[18], NG_012971.1:g.324245GT[19], NG_012971.1:g.324245GT[20]
      3.

      rs1491230514 [Homo sapiens]
        Variant type:
        SNV:
        Alleles:
        ->TTTTTGTTTTTTTTTTTTTTTTTTTT
        Chromosome:
        no mapping
        Canonical SPDI:
        4.

        rs1491207084 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          CT>- [Show Flanks]
          Chromosome:
          11:126668749 (GRCh38)
          11:126538644 (GRCh37)
          Canonical SPDI:
          NC_000011.10:126668747:TCT:T
          Gene:
          KIRREL3 (Varview), LOC101929427 (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,intron_variant
          Validated:
          by frequency,by cluster
          MAF:
          -=0.0159/59 (TWINSUK)
          -=0.0166/64 (ALSPAC)
          HGVS:
          5.

          rs1491171133 has merged into rs61217908 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            TTTTTTTTTTTT>-,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
            Chromosome:
            11:126663192 (GRCh38)
            11:126533087 (GRCh37)
            Canonical SPDI:
            NC_000011.10:126663182:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000011.10:126663182:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000011.10:126663182:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:126663182:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:126663182:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:126663182:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:126663182:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:126663182:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000011.10:126663182:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000011.10:126663182:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000011.10:126663182:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:126663182:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:126663182:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:126663182:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:126663182:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:126663182:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:126663182:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:126663182:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:126663182:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:126663182:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
            Gene:
            KIRREL3 (Varview), LOC101929427 (Varview)
            Functional Consequence:
            intron_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            TTTTTTTTTTTTT=0./0 (ALFA)
            HGVS:
            NC_000011.10:g.126663192_126663203del, NC_000011.10:g.126663194_126663203del, NC_000011.10:g.126663196_126663203del, NC_000011.10:g.126663197_126663203del, NC_000011.10:g.126663198_126663203del, NC_000011.10:g.126663199_126663203del, NC_000011.10:g.126663200_126663203del, NC_000011.10:g.126663201_126663203del, NC_000011.10:g.126663202_126663203del, NC_000011.10:g.126663203del, NC_000011.10:g.126663203dup, NC_000011.10:g.126663202_126663203dup, NC_000011.10:g.126663201_126663203dup, NC_000011.10:g.126663200_126663203dup, NC_000011.10:g.126663199_126663203dup, NC_000011.10:g.126663198_126663203dup, NC_000011.10:g.126663197_126663203dup, NC_000011.10:g.126663196_126663203dup, NC_000011.10:g.126663195_126663203dup, NC_000011.10:g.126663194_126663203dup, NC_000011.9:g.126533087_126533098del, NC_000011.9:g.126533089_126533098del, NC_000011.9:g.126533091_126533098del, NC_000011.9:g.126533092_126533098del, NC_000011.9:g.126533093_126533098del, NC_000011.9:g.126533094_126533098del, NC_000011.9:g.126533095_126533098del, NC_000011.9:g.126533096_126533098del, NC_000011.9:g.126533097_126533098del, NC_000011.9:g.126533098del, NC_000011.9:g.126533098dup, NC_000011.9:g.126533097_126533098dup, NC_000011.9:g.126533096_126533098dup, NC_000011.9:g.126533095_126533098dup, NC_000011.9:g.126533094_126533098dup, NC_000011.9:g.126533093_126533098dup, NC_000011.9:g.126533092_126533098dup, NC_000011.9:g.126533091_126533098dup, NC_000011.9:g.126533090_126533098dup, NC_000011.9:g.126533089_126533098dup, NG_012971.2:g.342676_342687del, NG_012971.2:g.342678_342687del, NG_012971.2:g.342680_342687del, NG_012971.2:g.342681_342687del, NG_012971.2:g.342682_342687del, NG_012971.2:g.342683_342687del, NG_012971.2:g.342684_342687del, NG_012971.2:g.342685_342687del, NG_012971.2:g.342686_342687del, NG_012971.2:g.342687del, NG_012971.2:g.342687dup, NG_012971.2:g.342686_342687dup, NG_012971.2:g.342685_342687dup, NG_012971.2:g.342684_342687dup, NG_012971.2:g.342683_342687dup, NG_012971.2:g.342682_342687dup, NG_012971.2:g.342681_342687dup, NG_012971.2:g.342680_342687dup, NG_012971.2:g.342679_342687dup, NG_012971.2:g.342678_342687dup, NG_012971.1:g.342678_342689del, NG_012971.1:g.342680_342689del, NG_012971.1:g.342682_342689del, NG_012971.1:g.342683_342689del, NG_012971.1:g.342684_342689del, NG_012971.1:g.342685_342689del, NG_012971.1:g.342686_342689del, NG_012971.1:g.342687_342689del, NG_012971.1:g.342688_342689del, NG_012971.1:g.342689del, NG_012971.1:g.342689dup, NG_012971.1:g.342688_342689dup, NG_012971.1:g.342687_342689dup, NG_012971.1:g.342686_342689dup, NG_012971.1:g.342685_342689dup, NG_012971.1:g.342684_342689dup, NG_012971.1:g.342683_342689dup, NG_012971.1:g.342682_342689dup, NG_012971.1:g.342681_342689dup, NG_012971.1:g.342680_342689dup
            6.

            rs1491101932 [Homo sapiens]
              Variant type:
              INS
              Alleles:
              ->A,TC [Show Flanks]
              Chromosome:
              11:126654356 (GRCh38)
              11:126524252 (GRCh37)
              Canonical SPDI:
              NC_000011.10:126654356::A,NC_000011.10:126654356::TC
              Gene:
              KIRREL3 (Varview), LOC101929427 (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              TC=0./0 (ALFA)
              HGVS:
              7.

              rs1491090190 [Homo sapiens]
                Variant type:
                SNV:
                Alleles:
                ->GCACACACAC
                Chromosome:
                no mapping
                Canonical SPDI:
                8.

                rs1490993795 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  11:126670564 (GRCh38)
                  11:126540459 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:126670563:T:C
                  Gene:
                  KIRREL3 (Varview), LOC101929427 (Varview)
                  Functional Consequence:
                  genic_upstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (TOPMED)
                  C=0.000014/2 (GnomAD)
                  HGVS:
                  9.

                  rs1490906351 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    11:126678829 (GRCh38)
                    11:126548724 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:126678828:G:A
                    Gene:
                    KIRREL3 (Varview), LOC101929427 (Varview)
                    Functional Consequence:
                    genic_upstream_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000004/1 (TOPMED)
                    HGVS:
                    10.

                    rs1490734777 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      11:126655726 (GRCh38)
                      11:126525621 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:126655725:A:G
                      Gene:
                      KIRREL3 (Varview), LOC101929427 (Varview)
                      Functional Consequence:
                      genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000008/2 (TOPMED)
                      HGVS:
                      11.

                      rs1490696679 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        11:126671136 (GRCh38)
                        11:126541031 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:126671135:A:G
                        Gene:
                        KIRREL3 (Varview), LOC101929427 (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1490547319 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>T [Show Flanks]
                          Chromosome:
                          11:126670820 (GRCh38)
                          11:126540715 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:126670819:A:T
                          Gene:
                          KIRREL3 (Varview), LOC101929427 (Varview)
                          Functional Consequence:
                          genic_upstream_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000026/7 (TOPMED)
                          T=0.000029/4 (GnomAD)
                          HGVS:
                          13.

                          rs1490455447 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            11:126674623 (GRCh38)
                            11:126544518 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:126674622:G:A
                            Gene:
                            KIRREL3 (Varview), LOC101929427 (Varview)
                            Functional Consequence:
                            genic_upstream_transcript_variant,intron_variant
                            Validated:
                            by frequency,by cluster
                            MAF:
                            A=0.0002/1 (1000Genomes)
                            HGVS:
                            14.

                            rs1490379627 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>T [Show Flanks]
                              Chromosome:
                              11:126652850 (GRCh38)
                              11:126522745 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:126652849:G:T
                              Gene:
                              KIRREL3 (Varview), LOC101929427 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000008/2 (TOPMED)
                              T=0.000014/2 (GnomAD)
                              HGVS:
                              15.

                              rs1490290669 has merged into rs756193928 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                TTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTCTCCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTCTCTCCTTCTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTCTTCATTCTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTCCTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTCTCCATTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTCTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTCCCTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTCTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                                Chromosome:
                                11:126662916 (GRCh38)
                                11:126532811 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:126662906:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000011.10:126662906:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000011.10:126662906:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000011.10:126662906:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000011.10:126662906:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:126662906:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:126662906:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:126662906:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:126662906:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000011.10:126662906:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000011.10:126662906:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000011.10:126662906:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:126662906:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTCTCCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:126662906:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTCTCTCCTTCTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:126662906:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTCTTCATTCTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:126662906:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:126662906:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:126662906:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTCCTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:126662906:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:126662906:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTCTCCATTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:126662906:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTCTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:126662906:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:126662906:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:126662906:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:126662906:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:126662906:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:126662906:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTCCCTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:126662906:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:126662906:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:126662906:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:126662906:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:126662906:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:126662906:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:126662906:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:126662906:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:126662906:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:126662906:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:126662906:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:126662906:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:126662906:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                                Gene:
                                KIRREL3 (Varview), LOC101929427 (Varview)
                                Functional Consequence:
                                genic_upstream_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                TTTTTTTTT=0./0 (ALFA)
                                HGVS:
                                NC_000011.10:g.126662916_126662927del, NC_000011.10:g.126662917_126662927del, NC_000011.10:g.126662918_126662927del, NC_000011.10:g.126662919_126662927del, NC_000011.10:g.126662920_126662927del, NC_000011.10:g.126662921_126662927del, NC_000011.10:g.126662923_126662927del, NC_000011.10:g.126662924_126662927del, NC_000011.10:g.126662925_126662927del, NC_000011.10:g.126662926_126662927del, NC_000011.10:g.126662927del, NC_000011.10:g.126662927dup, NC_000011.10:g.126662907_126662927T[22]CTCCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000011.10:g.126662907_126662927T[22]CT[2]CCTTCTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000011.10:g.126662907_126662927T[22]CTTCATTCTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000011.10:g.126662926_126662927dup, NC_000011.10:g.126662925_126662927dup, NC_000011.10:g.126662907_126662927T[24]CCTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000011.10:g.126662924_126662927dup, NC_000011.10:g.126662907_126662927T[25]CTCCATTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000011.10:g.126662907_126662927T[25]CTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000011.10:g.126662923_126662927dup, NC_000011.10:g.126662922_126662927dup, NC_000011.10:g.126662907_126662927T[27]CCTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000011.10:g.126662921_126662927dup, NC_000011.10:g.126662920_126662927dup, NC_000011.10:g.126662907_126662927T[29]CCCTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000011.10:g.126662907_126662927T[29]CTTTTTTT[2]T[17], NC_000011.10:g.126662919_126662927dup, NC_000011.10:g.126662918_126662927dup, NC_000011.10:g.126662917_126662927dup, NC_000011.10:g.126662915_126662927dup, NC_000011.10:g.126662914_126662927dup, NC_000011.10:g.126662912_126662927dup, NC_000011.10:g.126662911_126662927dup, NC_000011.10:g.126662910_126662927dup, NC_000011.10:g.126662908_126662927dup, NC_000011.10:g.126662927_126662928insTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.10:g.126662927_126662928insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.10:g.126662927_126662928insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.126532811_126532822del, NC_000011.9:g.126532812_126532822del, NC_000011.9:g.126532813_126532822del, NC_000011.9:g.126532814_126532822del, NC_000011.9:g.126532815_126532822del, NC_000011.9:g.126532816_126532822del, NC_000011.9:g.126532818_126532822del, NC_000011.9:g.126532819_126532822del, NC_000011.9:g.126532820_126532822del, NC_000011.9:g.126532821_126532822del, NC_000011.9:g.126532822del, NC_000011.9:g.126532822dup, NC_000011.9:g.126532802_126532822T[22]CTCCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000011.9:g.126532802_126532822T[22]CT[2]CCTTCTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000011.9:g.126532802_126532822T[22]CTTCATTCTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000011.9:g.126532821_126532822dup, NC_000011.9:g.126532820_126532822dup, NC_000011.9:g.126532802_126532822T[24]CCTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000011.9:g.126532819_126532822dup, NC_000011.9:g.126532802_126532822T[25]CTCCATTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000011.9:g.126532802_126532822T[25]CTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000011.9:g.126532818_126532822dup, NC_000011.9:g.126532817_126532822dup, NC_000011.9:g.126532802_126532822T[27]CCTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000011.9:g.126532816_126532822dup, NC_000011.9:g.126532815_126532822dup, NC_000011.9:g.126532802_126532822T[29]CCCTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000011.9:g.126532802_126532822T[29]CTTTTTTT[2]T[17], NC_000011.9:g.126532814_126532822dup, NC_000011.9:g.126532813_126532822dup, NC_000011.9:g.126532812_126532822dup, NC_000011.9:g.126532810_126532822dup, NC_000011.9:g.126532809_126532822dup, NC_000011.9:g.126532807_126532822dup, NC_000011.9:g.126532806_126532822dup, NC_000011.9:g.126532805_126532822dup, NC_000011.9:g.126532803_126532822dup, NC_000011.9:g.126532822_126532823insTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.126532822_126532823insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.126532822_126532823insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_012971.2:g.342952_342963del, NG_012971.2:g.342953_342963del, NG_012971.2:g.342954_342963del, NG_012971.2:g.342955_342963del, NG_012971.2:g.342956_342963del, NG_012971.2:g.342957_342963del, NG_012971.2:g.342959_342963del, NG_012971.2:g.342960_342963del, NG_012971.2:g.342961_342963del, NG_012971.2:g.342962_342963del, NG_012971.2:g.342963del, NG_012971.2:g.342963dup, NG_012971.2:g.342943_342963A[26]GAAAAGGAGAAAAAAAAAAAAAAAAAAAAAA[1], NG_012971.2:g.342943_342963A[25]GAAGGAGAGAAAAAAAAAAAAAAAAAAAAAA[1], NG_012971.2:g.342943_342963A[25]GAATGAAGAAAAAAAAAAAAAAAAAAAAAA[1], NG_012971.2:g.342962_342963dup, NG_012971.2:g.342961_342963dup, NG_012971.2:g.342943_342963A[25]GGAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_012971.2:g.342960_342963dup, NG_012971.2:g.342943_342963A[28]TGGAGAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_012971.2:g.342943_342963A[28]GGAAGAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_012971.2:g.342959_342963dup, NG_012971.2:g.342958_342963dup, NG_012971.2:g.342943_342963A[28]GGAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_012971.2:g.342957_342963dup, NG_012971.2:g.342956_342963dup, NG_012971.2:g.342943_342963A[24]TAAAAAAAGGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_012971.2:g.342943_342963A[24]GAAAAAAA[2]A[22], NG_012971.2:g.342955_342963dup, NG_012971.2:g.342954_342963dup, NG_012971.2:g.342953_342963dup, NG_012971.2:g.342951_342963dup, NG_012971.2:g.342950_342963dup, NG_012971.2:g.342948_342963dup, NG_012971.2:g.342947_342963dup, NG_012971.2:g.342946_342963dup, NG_012971.2:g.342944_342963dup, NG_012971.2:g.342963_342964insAAAAAAAAAAAAAAAAAAAAAAA, NG_012971.2:g.342963_342964insAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_012971.2:g.342963_342964insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_012971.1:g.342954_342965del, NG_012971.1:g.342955_342965del, NG_012971.1:g.342956_342965del, NG_012971.1:g.342957_342965del, NG_012971.1:g.342958_342965del, NG_012971.1:g.342959_342965del, NG_012971.1:g.342961_342965del, NG_012971.1:g.342962_342965del, NG_012971.1:g.342963_342965del, NG_012971.1:g.342964_342965del, NG_012971.1:g.342965del, NG_012971.1:g.342965dup, NG_012971.1:g.342945_342965A[26]GAAAAGGAGAAAAAAAAAAAAAAAAAAAAAA[1], NG_012971.1:g.342945_342965A[25]GAAGGAGAGAAAAAAAAAAAAAAAAAAAAAA[1], NG_012971.1:g.342945_342965A[25]GAATGAAGAAAAAAAAAAAAAAAAAAAAAA[1], NG_012971.1:g.342964_342965dup, NG_012971.1:g.342963_342965dup, NG_012971.1:g.342945_342965A[25]GGAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_012971.1:g.342962_342965dup, NG_012971.1:g.342945_342965A[28]TGGAGAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_012971.1:g.342945_342965A[28]GGAAGAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_012971.1:g.342961_342965dup, NG_012971.1:g.342960_342965dup, NG_012971.1:g.342945_342965A[28]GGAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_012971.1:g.342959_342965dup, NG_012971.1:g.342958_342965dup, NG_012971.1:g.342945_342965A[24]TAAAAAAAGGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_012971.1:g.342945_342965A[24]GAAAAAAA[2]A[22], NG_012971.1:g.342957_342965dup, NG_012971.1:g.342956_342965dup, NG_012971.1:g.342955_342965dup, NG_012971.1:g.342953_342965dup, NG_012971.1:g.342952_342965dup, NG_012971.1:g.342950_342965dup, NG_012971.1:g.342949_342965dup, NG_012971.1:g.342948_342965dup, NG_012971.1:g.342946_342965dup, NG_012971.1:g.342965_342966insAAAAAAAAAAAAAAAAAAAAAAA, NG_012971.1:g.342965_342966insAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_012971.1:g.342965_342966insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                                16.

                                rs1490105439 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>C,G [Show Flanks]
                                  Chromosome:
                                  11:126654322 (GRCh38)
                                  11:126524217 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:126654321:A:C,NC_000011.10:126654321:A:G
                                  Gene:
                                  KIRREL3 (Varview), LOC101929427 (Varview)
                                  Functional Consequence:
                                  genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  HGVS:
                                  17.

                                  rs1489981484 [Homo sapiens]
                                    Variant type:
                                    DEL
                                    Alleles:
                                    A>- [Show Flanks]
                                    Chromosome:
                                    11:126653866 (GRCh38)
                                    11:126523761 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:126653865:A:
                                    Gene:
                                    KIRREL3 (Varview), LOC101929427 (Varview)
                                    Functional Consequence:
                                    genic_upstream_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    -=0./0 (ALFA)
                                    -=0.000011/3 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1489924353 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>T [Show Flanks]
                                      Chromosome:
                                      11:126678083 (GRCh38)
                                      11:126547978 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:126678082:G:T
                                      Gene:
                                      KIRREL3 (Varview), LOC101929427 (Varview)
                                      Functional Consequence:
                                      genic_upstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      T=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1489823324 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        11:126669303 (GRCh38)
                                        11:126539198 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:126669302:A:G
                                        Gene:
                                        KIRREL3 (Varview), LOC101929427 (Varview)
                                        Functional Consequence:
                                        genic_upstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (TOPMED)
                                        G=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1489797959 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          11:126667168 (GRCh38)
                                          11:126537063 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:126667167:A:G
                                          Gene:
                                          KIRREL3 (Varview), LOC101929427 (Varview)
                                          Functional Consequence:
                                          genic_upstream_transcript_variant,intron_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          G=0.000007/1 (GnomAD)
                                          HGVS:

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