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Links from Gene

Items: 1 to 20 of 644

1.

rs1489303232 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>C,G [Show Flanks]
    Chromosome:
    5:168767702 (GRCh38)
    5:168194707 (GRCh37)
    Canonical SPDI:
    NC_000005.10:168767701:A:C,NC_000005.10:168767701:A:G
    Gene:
    SLIT3 (Varview), MIR218-2 (Varview)
    Functional Consequence:
    500B_downstream_variant,intron_variant,downstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000004/1 (TOPMED)
    C=0.000312/2 (1000Genomes)
    HGVS:
    2.

    rs1489087004 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      5:168768004 (GRCh38)
      5:168195009 (GRCh37)
      Canonical SPDI:
      NC_000005.10:168768003:G:A
      Gene:
      SLIT3 (Varview), MIR218-2 (Varview)
      Functional Consequence:
      500B_downstream_variant,intron_variant,downstream_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      A=0./0 (ALFA)
      HGVS:
      3.

      rs1487436199 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        5:168768271 (GRCh38)
        5:168195276 (GRCh37)
        Canonical SPDI:
        NC_000005.10:168768270:A:G
        Gene:
        SLIT3 (Varview), MIR218-2 (Varview)
        Functional Consequence:
        intron_variant,upstream_transcript_variant,2KB_upstream_variant
        Validated:
        by frequency
        MAF:
        G=0.000005/1 (GnomAD_exomes)
        HGVS:
        4.

        rs1486039450 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          5:168768460 (GRCh38)
          5:168195465 (GRCh37)
          Canonical SPDI:
          NC_000005.10:168768459:G:A
          Gene:
          SLIT3 (Varview), MIR218-2 (Varview)
          Functional Consequence:
          intron_variant,upstream_transcript_variant,2KB_upstream_variant
          Validated:
          by frequency,by alfa
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (TOPMED)
          HGVS:
          5.

          rs1485746298 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            5:168767925 (GRCh38)
            5:168194930 (GRCh37)
            Canonical SPDI:
            NC_000005.10:168767924:G:A
            Gene:
            SLIT3 (Varview), MIR218-2 (Varview)
            Functional Consequence:
            500B_downstream_variant,intron_variant,downstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000007/1 (GnomAD)
            A=0.000008/2 (TOPMED)
            HGVS:
            6.

            rs1484795287 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              5:168768360 (GRCh38)
              5:168195365 (GRCh37)
              Canonical SPDI:
              NC_000005.10:168768359:A:G
              Gene:
              SLIT3 (Varview), MIR218-2 (Varview)
              Functional Consequence:
              intron_variant,upstream_transcript_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0.000071/1 (ALFA)
              G=0.000007/1 (GnomAD)
              G=0.000008/2 (TOPMED)
              HGVS:
              7.

              rs1482793332 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                5:168769480 (GRCh38)
                5:168196485 (GRCh37)
                Canonical SPDI:
                NC_000005.10:168769479:T:C
                Gene:
                SLIT3 (Varview), MIR218-2 (Varview)
                Functional Consequence:
                intron_variant,upstream_transcript_variant,2KB_upstream_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000004/1 (TOPMED)
                C=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1480063134 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A [Show Flanks]
                  Chromosome:
                  5:168768719 (GRCh38)
                  5:168195724 (GRCh37)
                  Canonical SPDI:
                  NC_000005.10:168768718:C:A
                  Gene:
                  SLIT3 (Varview), MIR218-2 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,upstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1479991847 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A [Show Flanks]
                    Chromosome:
                    5:168767808 (GRCh38)
                    5:168194813 (GRCh37)
                    Canonical SPDI:
                    NC_000005.10:168767807:C:A
                    Gene:
                    SLIT3 (Varview), MIR218-2 (Varview)
                    Functional Consequence:
                    downstream_transcript_variant,intron_variant,500B_downstream_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000004/1 (TOPMED)
                    A=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1476940494 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A [Show Flanks]
                      Chromosome:
                      5:168768223 (GRCh38)
                      5:168195228 (GRCh37)
                      Canonical SPDI:
                      NC_000005.10:168768222:C:A
                      Gene:
                      SLIT3 (Varview), MIR218-2 (Varview)
                      Functional Consequence:
                      intron_variant,non_coding_transcript_variant
                      HGVS:
                      11.

                      rs1474967749 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        5:168768921 (GRCh38)
                        5:168195926 (GRCh37)
                        Canonical SPDI:
                        NC_000005.10:168768920:C:T
                        Gene:
                        SLIT3 (Varview), MIR218-2 (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,upstream_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000007/1 (GnomAD)
                        T=0.000015/4 (TOPMED)
                        HGVS:
                        12.

                        rs1473273013 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          5:168768691 (GRCh38)
                          5:168195696 (GRCh37)
                          Canonical SPDI:
                          NC_000005.10:168768690:C:T
                          Gene:
                          SLIT3 (Varview), MIR218-2 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,upstream_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1470777628 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G [Show Flanks]
                            Chromosome:
                            5:168768291 (GRCh38)
                            5:168195296 (GRCh37)
                            Canonical SPDI:
                            NC_000005.10:168768290:C:G
                            Gene:
                            SLIT3 (Varview), MIR218-2 (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,upstream_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000006/1 (GnomAD_exomes)
                            G=0.000008/2 (TOPMED)
                            HGVS:
                            14.

                            rs1469699668 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>A [Show Flanks]
                              Chromosome:
                              5:168768564 (GRCh38)
                              5:168195569 (GRCh37)
                              Canonical SPDI:
                              NC_000005.10:168768563:T:A
                              Gene:
                              SLIT3 (Varview), MIR218-2 (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,upstream_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0./0 (ALFA)
                              HGVS:
                              15.

                              rs1469398827 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>A [Show Flanks]
                                Chromosome:
                                5:168769608 (GRCh38)
                                5:168196613 (GRCh37)
                                Canonical SPDI:
                                NC_000005.10:168769607:T:A
                                Gene:
                                SLIT3 (Varview), MIR218-2 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,intron_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000004/1 (TOPMED)
                                A=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1467547657 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A [Show Flanks]
                                  Chromosome:
                                  5:168768340 (GRCh38)
                                  5:168195345 (GRCh37)
                                  Canonical SPDI:
                                  NC_000005.10:168768339:C:A
                                  Gene:
                                  SLIT3 (Varview), MIR218-2 (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,intron_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  A=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1466593660 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    CCC>-,CC [Show Flanks]
                                    Chromosome:
                                    5:168768663 (GRCh38)
                                    5:168195668 (GRCh37)
                                    Canonical SPDI:
                                    NC_000005.10:168768659:CCCCCC:CCC,NC_000005.10:168768659:CCCCCC:CCCCC
                                    Gene:
                                    SLIT3 (Varview), MIR218-2 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,intron_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    CCCCCC=0.00007/1 (ALFA)
                                    HGVS:
                                    18.

                                    rs1465253796 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      5:168769490 (GRCh38)
                                      5:168196495 (GRCh37)
                                      Canonical SPDI:
                                      NC_000005.10:168769489:G:A
                                      Gene:
                                      SLIT3 (Varview), MIR218-2 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,intron_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000007/1 (GnomAD)
                                      A=0.000008/2 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1464449261 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        C>- [Show Flanks]
                                        Chromosome:
                                        5:168769928 (GRCh38)
                                        5:168196933 (GRCh37)
                                        Canonical SPDI:
                                        NC_000005.10:168769927:CC:C
                                        Gene:
                                        SLIT3 (Varview), MIR218-2 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,intron_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        CC=0./0 (ALFA)
                                        -=0.000011/3 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1464406160 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          5:168768816 (GRCh38)
                                          5:168195821 (GRCh37)
                                          Canonical SPDI:
                                          NC_000005.10:168768815:C:T
                                          Gene:
                                          SLIT3 (Varview), MIR218-2 (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,intron_variant,2KB_upstream_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          T=0.000007/1 (GnomAD)
                                          HGVS:

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