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Links from Nucleotide

Items: 1 to 20 of 129

1.

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:
    2.

    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:
      3.

      rs1482109943 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        4:20392258 (GRCh38)
        4:20393881 (GRCh37)
        Canonical SPDI:
        NC_000004.12:20392257:A:G
        Gene:
        SLIT2 (Varview), SLIT2-IT1 (Varview)
        Functional Consequence:
        intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000007/1 (GnomAD)
        G=0.000008/2 (TOPMED)
        G=0.000035/1 (TOMMO)
        HGVS:
        4.

        rs1480630074 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>G,T [Show Flanks]
          Chromosome:
          4:20392200 (GRCh38)
          4:20393823 (GRCh37)
          Canonical SPDI:
          NC_000004.12:20392199:C:G,NC_000004.12:20392199:C:T
          Gene:
          SLIT2 (Varview), SLIT2-IT1 (Varview)
          Functional Consequence:
          intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000004/1 (TOPMED)
          T=0.000035/1 (TOMMO)
          HGVS:
          5.

          rs1466704618 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ->T [Show Flanks]
            Chromosome:
            4:20393600 (GRCh38)
            4:20395224 (GRCh37)
            Canonical SPDI:
            NC_000004.12:20393600:T:TT
            Gene:
            SLIT2 (Varview), SLIT2-IT1 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
            Validated:
            by frequency
            MAF:
            T=0./0 (GnomAD)
            HGVS:
            6.

            rs1465318393 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>C [Show Flanks]
              Chromosome:
              4:20394646 (GRCh38)
              4:20396269 (GRCh37)
              Canonical SPDI:
              NC_000004.12:20394645:A:C
              Gene:
              SLIT2 (Varview), SLIT2-IT1 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000007/1 (GnomAD)
              C=0.000008/2 (TOPMED)
              HGVS:
              7.

              rs1452525094 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                4:20392216 (GRCh38)
                4:20393839 (GRCh37)
                Canonical SPDI:
                NC_000004.12:20392215:A:G
                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:
                G=0.000094/1 (ALFA)
                G=0.000004/1 (TOPMED)
                HGVS:
                8.

                rs1450164329 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C [Show Flanks]
                  Chromosome:
                  4:20393622 (GRCh38)
                  4:20395245 (GRCh37)
                  Canonical SPDI:
                  NC_000004.12:20393621:A:C
                  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:
                  C=0.000142/2 (ALFA)
                  C=0.000026/7 (TOPMED)
                  C=0.000043/6 (GnomAD)
                  HGVS:
                  9.

                  rs1446630366 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    4:20394614 (GRCh38)
                    4:20396237 (GRCh37)
                    Canonical SPDI:
                    NC_000004.12:20394613: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=0.000015/4 (TOPMED)
                    HGVS:
                    10.

                    rs1446532458 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G,T [Show Flanks]
                      Chromosome:
                      4:20394839 (GRCh38)
                      4:20396462 (GRCh37)
                      Canonical SPDI:
                      NC_000004.12:20394838:C:G,NC_000004.12:20394838: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)
                      HGVS:
                      11.

                      rs1445444556 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        4:20394552 (GRCh38)
                        4:20396175 (GRCh37)
                        Canonical SPDI:
                        NC_000004.12:20394551:G:A
                        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:
                        A=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        A=0.000014/2 (GnomAD)
                        HGVS:
                        12.

                        rs1441021227 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G,T [Show Flanks]
                          Chromosome:
                          4:20394649 (GRCh38)
                          4:20396272 (GRCh37)
                          Canonical SPDI:
                          NC_000004.12:20394648:A:G,NC_000004.12:20394648:A:T
                          Gene:
                          SLIT2 (Varview), SLIT2-IT1 (Varview)
                          Functional Consequence:
                          intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000004/1 (TOPMED)
                          HGVS:
                          13.

                          rs1437758803 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            4:20393609 (GRCh38)
                            4:20395232 (GRCh37)
                            Canonical SPDI:
                            NC_000004.12:20393608:A:G
                            Gene:
                            SLIT2 (Varview), SLIT2-IT1 (Varview)
                            Functional Consequence:
                            intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0.000084/1 (ALFA)
                            G=0.000004/1 (TOPMED)
                            HGVS:
                            14.

                            rs1437221138 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>C [Show Flanks]
                              Chromosome:
                              4:20394776 (GRCh38)
                              4:20396399 (GRCh37)
                              Canonical SPDI:
                              NC_000004.12:20394775:A:C
                              Gene:
                              SLIT2 (Varview), SLIT2-IT1 (Varview)
                              Functional Consequence:
                              intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (TOPMED)
                              C=0.000007/1 (GnomAD)
                              C=0.000248/4 (TOMMO)
                              C=0.002396/7 (KOREAN)
                              C=0.002729/5 (Korea1K)
                              HGVS:
                              15.

                              rs1423189703 [Homo sapiens]
                                Variant type:
                                SNV:
                                Alleles:
                                T>C
                                Chromosome:
                                no mapping
                                Canonical SPDI:
                                16.

                                rs1422180473 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  4:20393364 (GRCh38)
                                  4:20394987 (GRCh37)
                                  Canonical SPDI:
                                  NC_000004.12:20393363:G:A
                                  Gene:
                                  SLIT2 (Varview), SLIT2-IT1 (Varview)
                                  Functional Consequence:
                                  genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000011/3 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1413316285 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>A [Show Flanks]
                                    Chromosome:
                                    4:20394575 (GRCh38)
                                    4:20396198 (GRCh37)
                                    Canonical SPDI:
                                    NC_000004.12:20394574:T:A
                                    Gene:
                                    SLIT2 (Varview), SLIT2-IT1 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    A=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1397108720 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A [Show Flanks]
                                      Chromosome:
                                      4:20393359 (GRCh38)
                                      4:20394982 (GRCh37)
                                      Canonical SPDI:
                                      NC_000004.12:20393358:C:A
                                      Gene:
                                      SLIT2 (Varview), SLIT2-IT1 (Varview)
                                      Functional Consequence:
                                      intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1388513506 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>T [Show Flanks]
                                        Chromosome:
                                        4:20394760 (GRCh38)
                                        4:20396383 (GRCh37)
                                        Canonical SPDI:
                                        NC_000004.12:20394759:A:T
                                        Gene:
                                        SLIT2 (Varview), SLIT2-IT1 (Varview)
                                        Functional Consequence:
                                        intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000004/1 (TOPMED)
                                        T=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1384620355 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>T [Show Flanks]
                                          Chromosome:
                                          4:20394572 (GRCh38)
                                          4:20396195 (GRCh37)
                                          Canonical SPDI:
                                          NC_000004.12:20394571:A:T
                                          Gene:
                                          SLIT2 (Varview), SLIT2-IT1 (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=0.000004/1 (TOPMED)
                                          T=0.000007/1 (GnomAD)
                                          HGVS:

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