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Links from Gene

Items: 1 to 20 of 1854

1.

rs1490840259 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    2:223601722 (GRCh38)
    2:224466440 (GRCh37)
    Canonical SPDI:
    NC_000002.12:223601721:T:C
    Gene:
    SCG2 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0./0 (ALFA)
    C=0.000004/1 (TOPMED)
    C=0.000007/1 (GnomAD)
    HGVS:
    2.

    rs1490675153 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      2:223601164 (GRCh38)
      2:224465882 (GRCh37)
      Canonical SPDI:
      NC_000002.12:223601163:T:C
      Gene:
      SCG2 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      C=0./0 (ALFA)
      HGVS:
      3.

      rs1490457484 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>C [Show Flanks]
        Chromosome:
        2:223598750 (GRCh38)
        2:224463468 (GRCh37)
        Canonical SPDI:
        NC_000002.12:223598749:G:C
        Gene:
        SCG2 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Validated:
        by frequency
        MAF:
        C=0.000004/1 (GnomAD_exomes)
        HGVS:
        4.

        rs1489165316 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,C [Show Flanks]
          Chromosome:
          2:223598073 (GRCh38)
          2:224462791 (GRCh37)
          Canonical SPDI:
          NC_000002.12:223598072:G:A,NC_000002.12:223598072:G:C
          Gene:
          SCG2 (Varview)
          Functional Consequence:
          synonymous_variant,missense_variant,coding_sequence_variant
          Validated:
          by frequency,by cluster
          MAF:
          A=0.000004/1 (GnomAD_exomes)
          HGVS:
          5.

          rs1488939597 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>C [Show Flanks]
            Chromosome:
            2:223601573 (GRCh38)
            2:224466291 (GRCh37)
            Canonical SPDI:
            NC_000002.12:223601572:A:C
            Gene:
            SCG2 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000004/1 (TOPMED)
            C=0.000021/3 (GnomAD)
            HGVS:
            6.

            rs1488931469 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C,G [Show Flanks]
              Chromosome:
              2:223597777 (GRCh38)
              2:224462495 (GRCh37)
              Canonical SPDI:
              NC_000002.12:223597776:T:C,NC_000002.12:223597776:T:G
              Gene:
              SCG2 (Varview)
              Functional Consequence:
              synonymous_variant,missense_variant,coding_sequence_variant
              Validated:
              by frequency,by cluster
              MAF:
              G=0.0002/1 (1000Genomes)
              HGVS:
              7.

              rs1488568522 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                2:223603214 (GRCh38)
                2:224467932 (GRCh37)
                Canonical SPDI:
                NC_000002.12:223603213:A:G
                Gene:
                SCG2 (Varview)
                Functional Consequence:
                upstream_transcript_variant,2KB_upstream_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0.000071/1 (ALFA)
                G=0.000004/1 (TOPMED)
                HGVS:
                8.

                rs1488174928 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  2:223599866 (GRCh38)
                  2:224464584 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:223599865:T:C
                  Gene:
                  SCG2 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000011/3 (TOPMED)
                  C=0.000014/2 (GnomAD)
                  HGVS:
                  9.

                  rs1488131860 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    2:223599208 (GRCh38)
                    2:224463926 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:223599207:A:G
                    Gene:
                    SCG2 (Varview)
                    Functional Consequence:
                    synonymous_variant,coding_sequence_variant
                    HGVS:
                    10.

                    rs1487922968 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      2:223604295 (GRCh38)
                      2:224469013 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:223604294:T:C
                      Gene:
                      SCG2 (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,2KB_upstream_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1487024811 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>A [Show Flanks]
                        Chromosome:
                        2:223599422 (GRCh38)
                        2:224464140 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:223599421:T:A
                        Gene:
                        SCG2 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000015/4 (TOPMED)
                        HGVS:
                        12.

                        rs1486362290 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          2:223598501 (GRCh38)
                          2:224463219 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:223598500:G:A
                          Gene:
                          SCG2 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant
                          Validated:
                          by frequency,by cluster
                          MAF:
                          A=0.000004/1 (GnomAD_exomes)
                          A=0.000035/1 (TOMMO)
                          HGVS:
                          13.

                          rs1485956403 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            2:223596922 (GRCh38)
                            2:224461640 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:223596921:A:G
                            Gene:
                            SCG2 (Varview)
                            Functional Consequence:
                            500B_downstream_variant,downstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0.000071/1 (ALFA)
                            G=0.000004/1 (TOPMED)
                            HGVS:
                            14.

                            rs1485578230 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A [Show Flanks]
                              Chromosome:
                              2:223597691 (GRCh38)
                              2:224462409 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:223597690:C:A
                              Gene:
                              SCG2 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant
                              Validated:
                              by frequency
                              MAF:
                              A=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              15.

                              rs1484829812 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                2:223596539 (GRCh38)
                                2:224461257 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:223596538:T:C
                                Gene:
                                SCG2 (Varview)
                                Functional Consequence:
                                500B_downstream_variant,downstream_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:
                                16.

                                rs1484679786 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  2:223597411 (GRCh38)
                                  2:224462129 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:223597410:G:A
                                  Gene:
                                  SCG2 (Varview)
                                  Functional Consequence:
                                  3_prime_UTR_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  A=0.000005/1 (GnomAD_exomes)
                                  HGVS:
                                  17.

                                  rs1484679514 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    2:223596818 (GRCh38)
                                    2:224461536 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:223596817:C:T
                                    Gene:
                                    SCG2 (Varview)
                                    Functional Consequence:
                                    downstream_transcript_variant,500B_downstream_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000007/1 (GnomAD)
                                    T=0.000011/3 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1483419535 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>G [Show Flanks]
                                      Chromosome:
                                      2:223597532 (GRCh38)
                                      2:224462250 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:223597531:T:G
                                      Gene:
                                      SCG2 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0./0 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1482622095 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        2:223603539 (GRCh38)
                                        2:224468257 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:223603538:T:C
                                        Gene:
                                        SCG2 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000014/2 (GnomAD)
                                        C=0.000015/4 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1482600600 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          2:223603434 (GRCh38)
                                          2:224468152 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:223603433:C:T
                                          Gene:
                                          SCG2 (Varview)
                                          Functional Consequence:
                                          upstream_transcript_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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