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Links from Gene

Items: 1 to 20 of 3483

1.

rs1490938918 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    1:160946984 (GRCh38)
    1:160916774 (GRCh37)
    Canonical SPDI:
    NC_000001.11:160946983:A:G
    Gene:
    ITLN2 (Varview), LOC101928372 (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:
    2.

    rs1490458137 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      1:160951751 (GRCh38)
      1:160921541 (GRCh37)
      Canonical SPDI:
      NC_000001.11:160951750:A:G
      Gene:
      ITLN2 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000014/2 (GnomAD)
      G=0.000026/7 (TOPMED)
      HGVS:
      3.

      rs1490384571 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G [Show Flanks]
        Chromosome:
        1:160954251 (GRCh38)
        1:160924041 (GRCh37)
        Canonical SPDI:
        NC_000001.11:160954250:C:G
        Gene:
        ITLN2 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        G=0./0 (ALFA)
        G=0.000011/3 (TOPMED)
        HGVS:
        4.

        rs1490310090 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          1:160954260 (GRCh38)
          1:160924050 (GRCh37)
          Canonical SPDI:
          NC_000001.11:160954259:C:T
          Gene:
          ITLN2 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0./0 (ALFA)
          T=0.000004/1 (TOPMED)
          HGVS:
          5.

          rs1489799538 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G [Show Flanks]
            Chromosome:
            1:160945478 (GRCh38)
            1:160915268 (GRCh37)
            Canonical SPDI:
            NC_000001.11:160945477:C:G
            Gene:
            ITLN2 (Varview), LOC101928372 (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:
            6.

            rs1489791880 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>T [Show Flanks]
              Chromosome:
              1:160946577 (GRCh38)
              1:160916367 (GRCh37)
              Canonical SPDI:
              NC_000001.11:160946576:G:T
              Gene:
              ITLN2 (Varview), LOC101928372 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1489204642 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                1:160944606 (GRCh38)
                1:160914396 (GRCh37)
                Canonical SPDI:
                NC_000001.11:160944605:A:G
                Gene:
                ITLN2 (Varview), LOC101928372 (Varview)
                Functional Consequence:
                500B_downstream_variant,intron_variant,downstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0.000071/1 (ALFA)
                G=0.000037/5 (GnomAD)
                HGVS:
                8.

                rs1489149379 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  1:160950596 (GRCh38)
                  1:160920386 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:160950595:C:T
                  Gene:
                  ITLN2 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  Validated:
                  by frequency
                  MAF:
                  T=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  9.

                  rs1489148261 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    1:160959319 (GRCh38)
                    1:160929109 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:160959318:A:G
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000004/1 (TOPMED)
                    HGVS:
                    10.

                    rs1489043871 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      1:160948037 (GRCh38)
                      1:160917827 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:160948036:A:G
                      Gene:
                      ITLN2 (Varview), LOC101928372 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency
                      MAF:
                      G=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      11.

                      rs1488846976 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>T [Show Flanks]
                        Chromosome:
                        1:160945451 (GRCh38)
                        1:160915241 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:160945450:G:T
                        Gene:
                        ITLN2 (Varview), LOC101928372 (Varview)
                        Functional Consequence:
                        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:
                        12.

                        rs1488816332 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A [Show Flanks]
                          Chromosome:
                          1:160946121 (GRCh38)
                          1:160915911 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:160946120:C:A
                          Gene:
                          ITLN2 (Varview), LOC101928372 (Varview)
                          Functional Consequence:
                          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:
                          13.

                          rs1488646428 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A [Show Flanks]
                            Chromosome:
                            1:160949498 (GRCh38)
                            1:160919288 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:160949497:C:A
                            Gene:
                            ITLN2 (Varview), LOC101928372 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000007/1 (GnomAD)
                            A=0.000076/20 (TOPMED)
                            HGVS:
                            14.

                            rs1488599907 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              1:160953170 (GRCh38)
                              1:160922960 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:160953169:A:G
                              Gene:
                              ITLN2 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1488541660 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                1:160956275 (GRCh38)
                                1:160926065 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:160956274:G:A
                                Gene:
                                ITLN2 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000004/1 (TOPMED)
                                A=0.000014/2 (GnomAD)
                                HGVS:
                                16.

                                rs1488392303 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>T [Show Flanks]
                                  Chromosome:
                                  1:160955425 (GRCh38)
                                  1:160925215 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:160955424:G:T
                                  Gene:
                                  ITLN2 (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:
                                  17.

                                  rs1488342422 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A [Show Flanks]
                                    Chromosome:
                                    1:160956310 (GRCh38)
                                    1:160926100 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:160956309:C:A
                                    Gene:
                                    ITLN2 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1488176685 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      1:160958929 (GRCh38)
                                      1:160928719 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:160958928:T:C
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      C=0./0 (ALFA)
                                      HGVS:
                                      19.

                                      rs1488041312 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>C [Show Flanks]
                                        Chromosome:
                                        1:160953948 (GRCh38)
                                        1:160923738 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:160953947:A:C
                                        Gene:
                                        ITLN2 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        C=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1487999699 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A [Show Flanks]
                                          Chromosome:
                                          1:160951472 (GRCh38)
                                          1:160921262 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:160951471:C:A
                                          Gene:
                                          ITLN2 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          HGVS:

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