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Links from Gene

Items: 1 to 20 of 900

1.

rs1490631327 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    12:123365177 (GRCh38)
    12:123849724 (GRCh37)
    Canonical SPDI:
    NC_000012.12:123365176:A:G
    Gene:
    SBNO1 (Varview), MIR8072 (Varview), SBNO1-AS1 (Varview)
    Functional Consequence:
    intron_variant,2KB_upstream_variant,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:
    2.

    rs1490397210 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      12:123365711 (GRCh38)
      12:123850258 (GRCh37)
      Canonical SPDI:
      NC_000012.12:123365710:C:T
      Gene:
      SBNO1 (Varview), MIR8072 (Varview), SBNO1-AS1 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      T=0./0 (ALFA)
      T=0.000008/2 (TOPMED)
      HGVS:
      3.

      rs1489113551 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        12:123364337 (GRCh38)
        12:123848884 (GRCh37)
        Canonical SPDI:
        NC_000012.12:123364336:C:T
        Gene:
        SBNO1 (Varview), MIR8072 (Varview), SBNO1-AS1 (Varview)
        Functional Consequence:
        intron_variant,500B_downstream_variant,downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0.000071/1 (ALFA)
        T=0.000007/1 (GnomAD)
        T=0.000019/5 (TOPMED)
        HGVS:
        4.

        rs1488523416 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,T [Show Flanks]
          Chromosome:
          12:123366505 (GRCh38)
          12:123851052 (GRCh37)
          Canonical SPDI:
          NC_000012.12:123366504:G:A,NC_000012.12:123366504:G:T
          Gene:
          SBNO1 (Varview), MIR8072 (Varview)
          Functional Consequence:
          2KB_upstream_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1488480485 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            12:123366006 (GRCh38)
            12:123850553 (GRCh37)
            Canonical SPDI:
            NC_000012.12:123366005:A:G
            Gene:
            SBNO1 (Varview), MIR8072 (Varview), SBNO1-AS1 (Varview)
            Functional Consequence:
            downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            G=0./0 (ALFA)
            G=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1488153819 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              12:123365632 (GRCh38)
              12:123850179 (GRCh37)
              Canonical SPDI:
              NC_000012.12:123365631:G:A
              Gene:
              SBNO1 (Varview), MIR8072 (Varview), SBNO1-AS1 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0./0 (ALFA)
              A=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1487408473 [Homo sapiens]
                Variant type:
                DEL
                Alleles:
                TAAT>- [Show Flanks]
                Chromosome:
                12:123366082 (GRCh38)
                12:123850629 (GRCh37)
                Canonical SPDI:
                NC_000012.12:123366081:TAAT:
                Gene:
                SBNO1 (Varview), MIR8072 (Varview), SBNO1-AS1 (Varview)
                Functional Consequence:
                downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                -=0./0 (ALFA)
                -=0.000015/4 (TOPMED)
                -=0.000021/3 (GnomAD)
                -=0.000156/1 (1000Genomes)
                HGVS:
                8.

                rs1484486275 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A [Show Flanks]
                  Chromosome:
                  12:123366705 (GRCh38)
                  12:123851252 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:123366704:C:A
                  Gene:
                  SBNO1 (Varview), MIR8072 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0.00059/9 (ALFA)
                  A=0.00131/22 (TOMMO)
                  A=0.00201/9 (Estonian)
                  A=0.00274/8 (KOREAN)
                  A=0.0039/25 (1000Genomes)
                  HGVS:
                  9.

                  rs1484379361 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A,T [Show Flanks]
                    Chromosome:
                    12:123364689 (GRCh38)
                    12:123849236 (GRCh37)
                    Canonical SPDI:
                    NC_000012.12:123364688:G:A,NC_000012.12:123364688:G:T
                    Gene:
                    SBNO1 (Varview), MIR8072 (Varview), SBNO1-AS1 (Varview)
                    Functional Consequence:
                    intron_variant,500B_downstream_variant,downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000007/1 (GnomAD)
                    T=0.000071/2 (TOMMO)
                    HGVS:
                    10.

                    rs1484288310 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A,T [Show Flanks]
                      Chromosome:
                      12:123364394 (GRCh38)
                      12:123848941 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:123364393:C:A,NC_000012.12:123364393:C:T
                      Gene:
                      SBNO1 (Varview), MIR8072 (Varview), SBNO1-AS1 (Varview)
                      Functional Consequence:
                      intron_variant,500B_downstream_variant,downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1483275742 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G,T [Show Flanks]
                        Chromosome:
                        12:123364809 (GRCh38)
                        12:123849356 (GRCh37)
                        Canonical SPDI:
                        NC_000012.12:123364808:C:G,NC_000012.12:123364808:C:T
                        Gene:
                        SBNO1 (Varview), MIR8072 (Varview), SBNO1-AS1 (Varview)
                        Functional Consequence:
                        5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        G=0.000019/5 (TOPMED)
                        HGVS:
                        12.

                        rs1483232849 [Homo sapiens]
                          Variant type:
                          SNV:
                          Alleles:
                          G>A
                          Chromosome:
                          no mapping
                          Canonical SPDI:
                          13.

                          rs1482795696 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            12:123366692 (GRCh38)
                            12:123851239 (GRCh37)
                            Canonical SPDI:
                            NC_000012.12:123366691:C:T
                            Gene:
                            SBNO1 (Varview), MIR8072 (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (TOPMED)
                            HGVS:
                            14.

                            rs1481385370 [Homo sapiens]
                              Variant type:
                              DEL
                              Alleles:
                              GCGAAGGCCACC>- [Show Flanks]
                              Chromosome:
                              12:123365186 (GRCh38)
                              12:123849733 (GRCh37)
                              Canonical SPDI:
                              NC_000012.12:123365185:GCGAAGGCCACC:
                              Gene:
                              SBNO1 (Varview), MIR8072 (Varview), SBNO1-AS1 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,intron_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              -=0./0 (ALFA)
                              -=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1481359197 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C [Show Flanks]
                                Chromosome:
                                12:123366712 (GRCh38)
                                12:123851259 (GRCh37)
                                Canonical SPDI:
                                NC_000012.12:123366711:G:C
                                Gene:
                                SBNO1 (Varview), MIR8072 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0.00066/10 (ALFA)
                                C=0.000023/3 (GnomAD)
                                C=0.001522/26 (TOMMO)
                                C=0.002232/10 (Estonian)
                                C=0.002738/8 (KOREAN)
                                C=0.003904/25 (1000Genomes)
                                HGVS:
                                16.

                                rs1481331429 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>A [Show Flanks]
                                  Chromosome:
                                  12:123365780 (GRCh38)
                                  12:123850327 (GRCh37)
                                  Canonical SPDI:
                                  NC_000012.12:123365779:T:A
                                  Gene:
                                  SBNO1 (Varview), MIR8072 (Varview), SBNO1-AS1 (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1481285065 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C,G [Show Flanks]
                                    Chromosome:
                                    12:123366144 (GRCh38)
                                    12:123850691 (GRCh37)
                                    Canonical SPDI:
                                    NC_000012.12:123366143:T:C,NC_000012.12:123366143:T:G
                                    Gene:
                                    SBNO1 (Varview), MIR8072 (Varview), SBNO1-AS1 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    C=0.000007/1 (GnomAD)
                                    C=0.000008/2 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1481070449 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      12:123364798 (GRCh38)
                                      12:123849345 (GRCh37)
                                      Canonical SPDI:
                                      NC_000012.12:123364797:G:A
                                      Gene:
                                      SBNO1 (Varview), MIR8072 (Varview), SBNO1-AS1 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,5_prime_UTR_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1479434849 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>T [Show Flanks]
                                        Chromosome:
                                        12:123364640 (GRCh38)
                                        12:123849187 (GRCh37)
                                        Canonical SPDI:
                                        NC_000012.12:123364639:A:T
                                        Gene:
                                        SBNO1 (Varview), MIR8072 (Varview), SBNO1-AS1 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0./0 (ALFA)
                                        HGVS:
                                        20.

                                        rs1479376638 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          ->C [Show Flanks]
                                          Chromosome:
                                          12:123364962 (GRCh38)
                                          12:123849510 (GRCh37)
                                          Canonical SPDI:
                                          NC_000012.12:123364962:CCCC:CCCCC
                                          Gene:
                                          SBNO1 (Varview), MIR8072 (Varview), SBNO1-AS1 (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          CCCCC=0.000084/1 (ALFA)
                                          C=0.000023/6 (TOPMED)
                                          C=0.000029/4 (GnomAD)
                                          HGVS:

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