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Links from Gene

Items: 1 to 20 of 440

1.

rs1487735372 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->CAGA [Show Flanks]
    Chromosome:
    1:116560933 (GRCh38)
    1:117103556 (GRCh37)
    Canonical SPDI:
    NC_000001.11:116560933:CAGA:CAGACAGA
    Gene:
    CD58 (Varview), MIR548AC (Varview), LOC105378925 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    CAGACAGA=0./0 (ALFA)
    CAGA=0.000004/1 (TOPMED)
    CAGA=0.000007/1 (GnomAD)
    HGVS:
    2.

    rs1485833506 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      1:116561487 (GRCh38)
      1:117104109 (GRCh37)
      Canonical SPDI:
      NC_000001.11:116561486:G:A
      Gene:
      CD58 (Varview), MIR548AC (Varview), LOC105378925 (Varview)
      Functional Consequence:
      intron_variant,500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant
      Validated:
      by frequency,by alfa
      MAF:
      A=0./0 (ALFA)
      A=0.000014/2 (GnomAD)
      HGVS:
      3.

      rs1484161773 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        1:116560276 (GRCh38)
        1:117102898 (GRCh37)
        Canonical SPDI:
        NC_000001.11:116560275:T:C
        Gene:
        CD58 (Varview), MIR548AC (Varview), LOC105378925 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000015/4 (TOPMED)
        C=0.000029/4 (GnomAD)
        HGVS:
        4.

        rs1483970528 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A [Show Flanks]
          Chromosome:
          1:116560709 (GRCh38)
          1:117103331 (GRCh37)
          Canonical SPDI:
          NC_000001.11:116560708:C:A
          Gene:
          CD58 (Varview), MIR548AC (Varview), LOC105378925 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000007/1 (GnomAD)
          A=0.000011/3 (TOPMED)
          HGVS:
          5.

          rs1483093082 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            1:116560924 (GRCh38)
            1:117103546 (GRCh37)
            Canonical SPDI:
            NC_000001.11:116560923:T:C
            Gene:
            CD58 (Varview), MIR548AC (Varview), LOC105378925 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,2KB_upstream_variant,intron_variant,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:
            6.

            rs1482014146 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              1:116561977 (GRCh38)
              1:117104599 (GRCh37)
              Canonical SPDI:
              NC_000001.11:116561976:T:C
              Gene:
              CD58 (Varview), MIR548AC (Varview)
              Functional Consequence:
              2KB_upstream_variant,intron_variant,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.

              rs1481167710 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A [Show Flanks]
                Chromosome:
                1:116560432 (GRCh38)
                1:117103054 (GRCh37)
                Canonical SPDI:
                NC_000001.11:116560431:C:A
                Gene:
                CD58 (Varview), MIR548AC (Varview), LOC105378925 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0./0 (ALFA)
                A=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1478256088 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  1:116561842 (GRCh38)
                  1:117104464 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:116561841:T:C
                  Gene:
                  CD58 (Varview), MIR548AC (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,intron_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  C=0./0 (ALFA)
                  HGVS:
                  9.

                  rs1477495598 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A [Show Flanks]
                    Chromosome:
                    1:116561180 (GRCh38)
                    1:117103802 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:116561179:C:A
                    Gene:
                    CD58 (Varview), MIR548AC (Varview), LOC105378925 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,2KB_upstream_variant,intron_variant,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:
                    10.

                    rs1476934737 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      1:116559674 (GRCh38)
                      1:117102296 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:116559673:G:A
                      Gene:
                      CD58 (Varview), MIR548AC (Varview), LOC105378925 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,downstream_transcript_variant,intron_variant,500B_downstream_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0.000066/1 (ALFA)
                      A=0.000007/1 (GnomAD)
                      A=0.000223/1 (Estonian)
                      HGVS:
                      11.

                      rs1475421912 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        ->A [Show Flanks]
                        Chromosome:
                        1:116561217 (GRCh38)
                        1:117103840 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:116561217:AAAA:AAAAA
                        Gene:
                        CD58 (Varview), MIR548AC (Varview), LOC105378925 (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant,intron_variant
                        Validated:
                        by frequency
                        MAF:
                        A=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1475090753 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G [Show Flanks]
                          Chromosome:
                          1:116559701 (GRCh38)
                          1:117102323 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:116559700:C:G
                          Gene:
                          CD58 (Varview), MIR548AC (Varview), LOC105378925 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,downstream_transcript_variant,500B_downstream_variant,intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1474848148 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>T [Show Flanks]
                            Chromosome:
                            1:116561201 (GRCh38)
                            1:117103823 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:116561200:G:T
                            Gene:
                            CD58 (Varview), MIR548AC (Varview), LOC105378925 (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant,intron_variant
                            Validated:
                            by frequency
                            MAF:
                            T=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1474225437 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              1:116559913 (GRCh38)
                              1:117102535 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:116559912:T:C
                              Gene:
                              CD58 (Varview), MIR548AC (Varview), LOC105378925 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,downstream_transcript_variant,500B_downstream_variant,intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1473641920 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                1:116560345 (GRCh38)
                                1:117102967 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:116560344:C:T
                                Gene:
                                CD58 (Varview), MIR548AC (Varview), LOC105378925 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000014/2 (GnomAD)
                                T=0.000015/4 (TOPMED)
                                HGVS:
                                16.

                                rs1472726561 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A [Show Flanks]
                                  Chromosome:
                                  1:116561500 (GRCh38)
                                  1:117104122 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:116561499:C:A
                                  Gene:
                                  CD58 (Varview), MIR548AC (Varview), LOC105378925 (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000008/2 (TOPMED)
                                  A=0.000014/2 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1464273609 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>C [Show Flanks]
                                    Chromosome:
                                    1:116560382 (GRCh38)
                                    1:117103004 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:116560381:A:C
                                    Gene:
                                    CD58 (Varview), MIR548AC (Varview), LOC105378925 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000007/1 (GnomAD)
                                    C=0.000008/2 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1461225399 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      1:116559942 (GRCh38)
                                      1:117102564 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:116559941:G:A
                                      Gene:
                                      CD58 (Varview), MIR548AC (Varview), LOC105378925 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,500B_downstream_variant,downstream_transcript_variant,intron_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.

                                      rs1459885959 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>A [Show Flanks]
                                        Chromosome:
                                        1:116560541 (GRCh38)
                                        1:117103163 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:116560540:T:A
                                        Gene:
                                        CD58 (Varview), MIR548AC (Varview), LOC105378925 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000007/1 (GnomAD)
                                        A=0.000015/4 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1459383158 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          1:116561033 (GRCh38)
                                          1:117103655 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:116561032:G:A
                                          Gene:
                                          CD58 (Varview), MIR548AC (Varview), LOC105378925 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000007/1 (GnomAD)
                                          A=0.000008/2 (TOPMED)
                                          HGVS:

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