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Links from Gene

Items: 1 to 20 of 3989

1.

rs1491588331 [Homo sapiens]
    Variant type:
    INS
    Alleles:
    ->A [Show Flanks]
    Chromosome:
    20:49284590 (GRCh38)
    20:47901128 (GRCh37)
    Canonical SPDI:
    NC_000020.11:49284590::A
    Gene:
    ZFAS1 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    A=0./0 (ALFA)
    A=0.02101/10 (GnomAD)
    HGVS:
    2.

    rs1491534190 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      CT>- [Show Flanks]
      Chromosome:
      20:49284591 (GRCh38)
      20:47901128 (GRCh37)
      Canonical SPDI:
      NC_000020.11:49284589:TCT:T
      Gene:
      ZFAS1 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      T=0./0 (ALFA)
      HGVS:
      3.

      rs1491026249 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        GA>- [Show Flanks]
        Chromosome:
        20:49277015 (GRCh38)
        20:47893552 (GRCh37)
        Canonical SPDI:
        NC_000020.11:49277013:AGA:A
        Gene:
        SNORD12C (Varview), ZNFX1 (Varview), ZFAS1 (Varview)
        Functional Consequence:
        intron_variant,upstream_transcript_variant,2KB_upstream_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        -=0.000007/1 (GnomAD)
        -=0.000011/3 (TOPMED)
        HGVS:
        4.

        rs1490920419 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          20:49286419 (GRCh38)
          20:47902956 (GRCh37)
          Canonical SPDI:
          NC_000020.11:49286418:G:A
          Gene:
          ZFAS1 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (TOPMED)
          HGVS:
          5.

          rs1490717768 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            20:49280859 (GRCh38)
            20:47897396 (GRCh37)
            Canonical SPDI:
            NC_000020.11:49280858:T:C
            Gene:
            ZFAS1 (Varview), SNORD12 (Varview), SNORD12B (Varview)
            Functional Consequence:
            500B_downstream_variant,intron_variant,downstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0./0 (ALFA)
            C=0.000011/3 (TOPMED)
            HGVS:
            6.

            rs1490559259 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              20:49279756 (GRCh38)
              20:47896293 (GRCh37)
              Canonical SPDI:
              NC_000020.11:49279755:G:A
              Gene:
              ZNFX1 (Varview), ZFAS1 (Varview), SNORD12 (Varview), SNORD12B (Varview)
              Functional Consequence:
              intron_variant,upstream_transcript_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0.000071/1 (ALFA)
              A=0.000007/1 (GnomAD)
              A=0.000008/2 (TOPMED)
              HGVS:
              7.

              rs1490385528 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                CTTTT>- [Show Flanks]
                Chromosome:
                20:49289750 (GRCh38)
                20:47906287 (GRCh37)
                Canonical SPDI:
                NC_000020.11:49289746:TTTCTTTT:TTT
                Gene:
                ZFAS1 (Varview)
                Functional Consequence:
                500B_downstream_variant,downstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                TTT=0.000071/1 (ALFA)
                -=0.000093/13 (GnomAD)
                -=0.000106/2 (TOMMO)
                -=0.000113/30 (TOPMED)
                HGVS:
                8.

                rs1490005567 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  20:49277708 (GRCh38)
                  20:47894245 (GRCh37)
                  Canonical SPDI:
                  NC_000020.11:49277707:C:T
                  Gene:
                  SNORD12C (Varview), ZNFX1 (Varview), ZFAS1 (Varview)
                  Functional Consequence:
                  intron_variant,upstream_transcript_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000046/6 (GnomAD)
                  HGVS:
                  9.

                  rs1489757533 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    20:49286793 (GRCh38)
                    20:47903330 (GRCh37)
                    Canonical SPDI:
                    NC_000020.11:49286792:A:G
                    Gene:
                    ZFAS1 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0.000071/1 (ALFA)
                    G=0./0 (GnomAD)
                    G=0.000023/6 (TOPMED)
                    G=0.000156/1 (1000Genomes)
                    HGVS:
                    10.

                    rs1489517327 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      20:49280558 (GRCh38)
                      20:47897095 (GRCh37)
                      Canonical SPDI:
                      NC_000020.11:49280557:A:G
                      Gene:
                      ZFAS1 (Varview), SNORD12 (Varview), SNORD12B (Varview)
                      Functional Consequence:
                      downstream_transcript_variant,non_coding_transcript_variant,intron_variant,upstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1489434614 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        GT>- [Show Flanks]
                        Chromosome:
                        20:49282083 (GRCh38)
                        20:47898620 (GRCh37)
                        Canonical SPDI:
                        NC_000020.11:49282081:TGT:T
                        Gene:
                        ZFAS1 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0.000071/1 (ALFA)
                        -=0.00003/8 (TOPMED)
                        -=0.000036/5 (GnomAD)
                        HGVS:
                        12.

                        rs1489356643 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          20:49279271 (GRCh38)
                          20:47895808 (GRCh37)
                          Canonical SPDI:
                          NC_000020.11:49279270:C:T
                          Gene:
                          SNORD12C (Varview), ZNFX1 (Varview), ZFAS1 (Varview), SNORD12 (Varview), SNORD12B (Varview)
                          Functional Consequence:
                          downstream_transcript_variant,intron_variant,upstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000007/1 (GnomAD)
                          T=0.000008/2 (TOPMED)
                          HGVS:
                          13.

                          rs1488653583 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            20:49287842 (GRCh38)
                            20:47904379 (GRCh37)
                            Canonical SPDI:
                            NC_000020.11:49287841:T:C
                            Gene:
                            ZFAS1 (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)
                            C=0.000035/1 (TOMMO)
                            C=0.000546/1 (Korea1K)
                            HGVS:
                            14.

                            rs1488604945 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              20:49283680 (GRCh38)
                              20:47900217 (GRCh37)
                              Canonical SPDI:
                              NC_000020.11:49283679:C:T
                              Gene:
                              ZFAS1 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1488584697 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A [Show Flanks]
                                Chromosome:
                                20:49278489 (GRCh38)
                                20:47895026 (GRCh37)
                                Canonical SPDI:
                                NC_000020.11:49278488:C:A
                                Gene:
                                SNORD12C (Varview), ZNFX1 (Varview), ZFAS1 (Varview), SNORD12B (Varview)
                                Functional Consequence:
                                genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000004/1 (TOPMED)
                                A=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1488553595 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  20:49279745 (GRCh38)
                                  20:47896282 (GRCh37)
                                  Canonical SPDI:
                                  NC_000020.11:49279744:T:C
                                  Gene:
                                  ZNFX1 (Varview), ZFAS1 (Varview), SNORD12 (Varview), SNORD12B (Varview)
                                  Functional Consequence:
                                  intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1487511708 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    20:49284415 (GRCh38)
                                    20:47900952 (GRCh37)
                                    Canonical SPDI:
                                    NC_000020.11:49284414:G:A
                                    Gene:
                                    ZFAS1 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1487502609 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A,G [Show Flanks]
                                      Chromosome:
                                      20:49284841 (GRCh38)
                                      20:47901378 (GRCh37)
                                      Canonical SPDI:
                                      NC_000020.11:49284840:C:A,NC_000020.11:49284840:C:G
                                      Gene:
                                      ZFAS1 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0.00007/1 (ALFA)
                                      HGVS:
                                      19.

                                      rs1487469965 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G [Show Flanks]
                                        Chromosome:
                                        20:49285240 (GRCh38)
                                        20:47901777 (GRCh37)
                                        Canonical SPDI:
                                        NC_000020.11:49285239:C:G
                                        Gene:
                                        ZFAS1 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (TOPMED)
                                        G=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1487432065 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A [Show Flanks]
                                          Chromosome:
                                          20:49285738 (GRCh38)
                                          20:47902275 (GRCh37)
                                          Canonical SPDI:
                                          NC_000020.11:49285737:C:A
                                          Gene:
                                          ZFAS1 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0.000071/1 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          HGVS:

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