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Links from Gene

Items: 1 to 20 of 1167

1.

rs1491385821 [Homo sapiens]
    Variant type:
    INS
    Alleles:
    ->G [Show Flanks]
    Chromosome:
    4:20390760 (GRCh38)
    4:20392384 (GRCh37)
    Canonical SPDI:
    NC_000004.12:20390760::G
    Gene:
    SLIT2 (Varview), SLIT2-IT1 (Varview)
    Functional Consequence:
    intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
    Validated:
    by frequency,by alfa
    MAF:
    G=0.00008/1 (ALFA)
    G=0.00014/10 (GnomAD)
    HGVS:
    2.

    rs1491222966 [Homo sapiens]
      Variant type:
      INS
      Alleles:
      ->TA [Show Flanks]
      Chromosome:
      4:20390771 (GRCh38)
      4:20392395 (GRCh37)
      Canonical SPDI:
      NC_000004.12:20390771::TA
      Gene:
      SLIT2 (Varview), SLIT2-IT1 (Varview)
      Functional Consequence:
      intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
      Validated:
      by frequency,by alfa
      MAF:
      TA=0./0 (ALFA)
      HGVS:
      3.

      rs1491157466 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        TA>- [Show Flanks]
        Chromosome:
        4:20390771 (GRCh38)
        4:20392394 (GRCh37)
        Canonical SPDI:
        NC_000004.12:20390770:TA:
        Gene:
        SLIT2 (Varview), SLIT2-IT1 (Varview)
        Functional Consequence:
        intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        -=0.00143/17 (ALFA)
        -=0.00352/2 (NorthernSweden)
        -=0.0047/341 (GnomAD)
        -=0.01295/23 (Korea1K)
        -=0.01907/308 (TOMMO)
        HGVS:
        4.

        rs1490357848 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          4:20393013 (GRCh38)
          4:20394636 (GRCh37)
          Canonical SPDI:
          NC_000004.12:20393012:T:C
          Gene:
          SLIT2 (Varview), SLIT2-IT1 (Varview)
          Functional Consequence:
          intron_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0.000004/1 (TOPMED)
          C=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1489869819 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G,T [Show Flanks]
            Chromosome:
            4:20393426 (GRCh38)
            4:20395049 (GRCh37)
            Canonical SPDI:
            NC_000004.12:20393425:C:G,NC_000004.12:20393425:C:T
            Gene:
            SLIT2 (Varview), SLIT2-IT1 (Varview)
            Functional Consequence:
            intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000007/1 (GnomAD)
            T=0.000011/3 (TOPMED)
            HGVS:
            6.

            rs1489191489 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>C,G [Show Flanks]
              Chromosome:
              4:20391232 (GRCh38)
              4:20392855 (GRCh37)
              Canonical SPDI:
              NC_000004.12:20391231:A:C,NC_000004.12:20391231:A:G
              Gene:
              SLIT2 (Varview), SLIT2-IT1 (Varview)
              Functional Consequence:
              intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              C=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1489140842 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>C,G [Show Flanks]
                Chromosome:
                4:20390405 (GRCh38)
                4:20392028 (GRCh37)
                Canonical SPDI:
                NC_000004.12:20390404:A:C,NC_000004.12:20390404:A:G
                Gene:
                SLIT2 (Varview), SLIT2-IT1 (Varview)
                Functional Consequence:
                intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                HGVS:
                8.

                rs1488968430 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>C [Show Flanks]
                  Chromosome:
                  4:20392076 (GRCh38)
                  4:20393699 (GRCh37)
                  Canonical SPDI:
                  NC_000004.12:20392075:G:C
                  Gene:
                  SLIT2 (Varview), SLIT2-IT1 (Varview)
                  Functional Consequence:
                  intron_variant,upstream_transcript_variant,genic_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:
                  9.

                  rs1488867009 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    ->GT [Show Flanks]
                    Chromosome:
                    4:20390780 (GRCh38)
                    4:20392404 (GRCh37)
                    Canonical SPDI:
                    NC_000004.12:20390780:T:TGT
                    Gene:
                    SLIT2 (Varview), SLIT2-IT1 (Varview)
                    Functional Consequence:
                    intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    TGT=0./0 (ALFA)
                    HGVS:
                    10.

                    rs1488701876 [Homo sapiens]
                      Variant type:
                      DEL
                      Alleles:
                      AAAAT>- [Show Flanks]
                      Chromosome:
                      4:20390280 (GRCh38)
                      4:20391903 (GRCh37)
                      Canonical SPDI:
                      NC_000004.12:20390279:AAAAT:
                      Gene:
                      SLIT2 (Varview), SLIT2-IT1 (Varview)
                      Functional Consequence:
                      intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      -=0./0 (ALFA)
                      -=0.000004/1 (TOPMED)
                      -=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1488670293 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        4:20391099 (GRCh38)
                        4:20392722 (GRCh37)
                        Canonical SPDI:
                        NC_000004.12:20391098:C:T
                        Gene:
                        SLIT2 (Varview), SLIT2-IT1 (Varview)
                        Functional Consequence:
                        intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000011/3 (TOPMED)
                        HGVS:
                        12.

                        rs1488629309 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          4:20393979 (GRCh38)
                          4:20395602 (GRCh37)
                          Canonical SPDI:
                          NC_000004.12:20393978:A:G
                          Gene:
                          SLIT2 (Varview), SLIT2-IT1 (Varview)
                          Functional Consequence:
                          intron_variant,genic_upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000004/1 (TOPMED)
                          G=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1488535584 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            4:20391361 (GRCh38)
                            4:20392984 (GRCh37)
                            Canonical SPDI:
                            NC_000004.12:20391360:G:A
                            Gene:
                            SLIT2 (Varview), SLIT2-IT1 (Varview)
                            Functional Consequence:
                            intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1488131481 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A,T [Show Flanks]
                              Chromosome:
                              4:20391152 (GRCh38)
                              4:20392775 (GRCh37)
                              Canonical SPDI:
                              NC_000004.12:20391151:C:A,NC_000004.12:20391151:C:T
                              Gene:
                              SLIT2 (Varview), SLIT2-IT1 (Varview)
                              Functional Consequence:
                              intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              HGVS:
                              15.

                              rs1487563645 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                4:20390508 (GRCh38)
                                4:20392131 (GRCh37)
                                Canonical SPDI:
                                NC_000004.12:20390507:A:G
                                Gene:
                                SLIT2 (Varview), SLIT2-IT1 (Varview)
                                Functional Consequence:
                                intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000004/1 (TOPMED)
                                G=0.000014/2 (GnomAD)
                                HGVS:
                                16.

                                rs1486922680 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G [Show Flanks]
                                  Chromosome:
                                  4:20392227 (GRCh38)
                                  4:20393850 (GRCh37)
                                  Canonical SPDI:
                                  NC_000004.12:20392226:C:G
                                  Gene:
                                  SLIT2 (Varview), SLIT2-IT1 (Varview)
                                  Functional Consequence:
                                  intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
                                  HGVS:
                                  17.

                                  rs1486353446 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    4:20391428 (GRCh38)
                                    4:20393051 (GRCh37)
                                    Canonical SPDI:
                                    NC_000004.12:20391427:A:G
                                    Gene:
                                    SLIT2 (Varview), SLIT2-IT1 (Varview)
                                    Functional Consequence:
                                    intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1485371650 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      4:20390517 (GRCh38)
                                      4:20392140 (GRCh37)
                                      Canonical SPDI:
                                      NC_000004.12:20390516:A:G
                                      Gene:
                                      SLIT2 (Varview), SLIT2-IT1 (Varview)
                                      Functional Consequence:
                                      intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0.000108/2 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      G=0.000071/1 (TOMMO)
                                      G=0.000079/11 (GnomAD)
                                      G=0.000223/1 (Estonian)
                                      HGVS:
                                      19.

                                      rs1484048107 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G,T [Show Flanks]
                                        Chromosome:
                                        4:20394370 (GRCh38)
                                        4:20395993 (GRCh37)
                                        Canonical SPDI:
                                        NC_000004.12:20394369:A:G,NC_000004.12:20394369:A:T
                                        Gene:
                                        SLIT2 (Varview), SLIT2-IT1 (Varview)
                                        Functional Consequence:
                                        intron_variant,genic_upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        HGVS:
                                        20.

                                        rs1484005249 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A [Show Flanks]
                                          Chromosome:
                                          4:20393517 (GRCh38)
                                          4:20395140 (GRCh37)
                                          Canonical SPDI:
                                          NC_000004.12:20393516:C:A
                                          Gene:
                                          SLIT2 (Varview), SLIT2-IT1 (Varview)
                                          Functional Consequence:
                                          intron_variant,genic_upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0./0 (GnomAD)
                                          A=0.000008/2 (TOPMED)
                                          HGVS:

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