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Items: 1 to 20 of 3357

1.

rs1490686161 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    12:2837183 (GRCh38)
    12:2946349 (GRCh37)
    Canonical SPDI:
    NC_000012.12:2837182:A:G
    Gene:
    ITFG2 (Varview)
    Functional Consequence:
    intron_variant,genic_downstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000014/2 (GnomAD)
    G=0.000015/4 (TOPMED)
    HGVS:
    2.

    rs1490196826 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      12:2828784 (GRCh38)
      12:2937950 (GRCh37)
      Canonical SPDI:
      NC_000012.12:2828783:G:A
      Gene:
      ITFG2 (Varview), NRIP2 (Varview)
      Functional Consequence:
      intron_variant,genic_downstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000004/1 (TOPMED)
      A=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1489551103 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        12:2834602 (GRCh38)
        12:2943768 (GRCh37)
        Canonical SPDI:
        NC_000012.12:2834601:A:G
        Gene:
        ITFG2 (Varview), NRIP2 (Varview)
        Functional Consequence:
        intron_variant,genic_downstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        G=0./0 (ALFA)
        G=0.000004/1 (TOPMED)
        HGVS:
        4.

        rs1489409113 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          12:2830261 (GRCh38)
          12:2939427 (GRCh37)
          Canonical SPDI:
          NC_000012.12:2830260:T:C
          Gene:
          ITFG2 (Varview), NRIP2 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0.000071/1 (ALFA)
          C=0.000036/5 (GnomAD)
          C=0.000106/28 (TOPMED)
          HGVS:
          5.

          rs1489373918 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            12:2831132 (GRCh38)
            12:2940298 (GRCh37)
            Canonical SPDI:
            NC_000012.12:2831131:C:T
            Gene:
            ITFG2 (Varview), NRIP2 (Varview)
            Functional Consequence:
            intron_variant,genic_downstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000007/1 (GnomAD)
            T=0.000011/3 (TOPMED)
            T=0.000156/1 (1000Genomes)
            HGVS:
            6.

            rs1489144118 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>T [Show Flanks]
              Chromosome:
              12:2826087 (GRCh38)
              12:2935253 (GRCh37)
              Canonical SPDI:
              NC_000012.12:2826086:A:T
              Gene:
              ITFG2 (Varview), NRIP2 (Varview)
              Functional Consequence:
              3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              T=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1488956330 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                12:2836981 (GRCh38)
                12:2946147 (GRCh37)
                Canonical SPDI:
                NC_000012.12:2836980:T:C
                Gene:
                ITFG2 (Varview), NRIP2 (Varview)
                Functional Consequence:
                intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                C=0./0 (ALFA)
                C=0.000004/1 (TOPMED)
                HGVS:
                8.

                rs1488849361 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  12:2828091 (GRCh38)
                  12:2937257 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:2828090:G:A
                  Gene:
                  ITFG2 (Varview), NRIP2 (Varview)
                  Functional Consequence:
                  intron_variant,genic_downstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000004/1 (GnomAD_exomes)
                  A=0.000023/6 (TOPMED)
                  A=0.000029/4 (GnomAD)
                  HGVS:
                  9.

                  rs1487733859 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>G [Show Flanks]
                    Chromosome:
                    12:2834244 (GRCh38)
                    12:2943410 (GRCh37)
                    Canonical SPDI:
                    NC_000012.12:2834243:T:G
                    Gene:
                    ITFG2 (Varview), NRIP2 (Varview)
                    Functional Consequence:
                    intron_variant,genic_downstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000007/1 (GnomAD)
                    G=0.000008/2 (TOPMED)
                    G=0.000546/1 (Korea1K)
                    HGVS:
                    10.

                    rs1487614191 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      12:2835988 (GRCh38)
                      12:2945154 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:2835987:A:G
                      Gene:
                      ITFG2 (Varview), NRIP2 (Varview)
                      Functional Consequence:
                      intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
                      Validated:
                      by frequency
                      MAF:
                      G=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1487504663 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>G [Show Flanks]
                        Chromosome:
                        12:2826227 (GRCh38)
                        12:2935393 (GRCh37)
                        Canonical SPDI:
                        NC_000012.12:2826226:T:G
                        Gene:
                        ITFG2 (Varview), NRIP2 (Varview)
                        Functional Consequence:
                        3_prime_UTR_variant,intron_variant,genic_downstream_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:
                        12.

                        rs1487427101 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          12:2830338 (GRCh38)
                          12:2939504 (GRCh37)
                          Canonical SPDI:
                          NC_000012.12:2830337:T:C
                          Gene:
                          ITFG2 (Varview), NRIP2 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0./0 (GnomAD)
                          C=0.000023/6 (TOPMED)
                          C=0.000684/2 (KOREAN)
                          HGVS:
                          13.

                          rs1487325084 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G,T [Show Flanks]
                            Chromosome:
                            12:2829660 (GRCh38)
                            12:2938826 (GRCh37)
                            Canonical SPDI:
                            NC_000012.12:2829659:A:G,NC_000012.12:2829659:A:T
                            Gene:
                            ITFG2 (Varview), NRIP2 (Varview)
                            Functional Consequence:
                            intron_variant,genic_downstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            HGVS:
                            14.

                            rs1487240494 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              12:2835609 (GRCh38)
                              12:2944775 (GRCh37)
                              Canonical SPDI:
                              NC_000012.12:2835608:C:T
                              Gene:
                              ITFG2 (Varview), NRIP2 (Varview)
                              Functional Consequence:
                              intron_variant,genic_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)
                              T=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1487026321 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>G [Show Flanks]
                                Chromosome:
                                12:2836601 (GRCh38)
                                12:2945767 (GRCh37)
                                Canonical SPDI:
                                NC_000012.12:2836600:T:G
                                Gene:
                                ITFG2 (Varview), NRIP2 (Varview)
                                Functional Consequence:
                                intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000004/1 (TOPMED)
                                HGVS:
                                16.

                                rs1486852406 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  12:2824990 (GRCh38)
                                  12:2934156 (GRCh37)
                                  Canonical SPDI:
                                  NC_000012.12:2824989:A:G
                                  Gene:
                                  ITFG2 (Varview), NRIP2 (Varview)
                                  Functional Consequence:
                                  downstream_transcript_variant,intron_variant,3_prime_UTR_variant,500B_downstream_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0.000071/1 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1486780935 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    12:2830430 (GRCh38)
                                    12:2939596 (GRCh37)
                                    Canonical SPDI:
                                    NC_000012.12:2830429:T:C
                                    Gene:
                                    ITFG2 (Varview), NRIP2 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0.000071/1 (ALFA)
                                    C=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1486547090 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      AACCCCATCTCTA>- [Show Flanks]
                                      Chromosome:
                                      12:2829901 (GRCh38)
                                      12:2939067 (GRCh37)
                                      Canonical SPDI:
                                      NC_000012.12:2829899:AAACCCCATCTCTA:A
                                      Gene:
                                      ITFG2 (Varview), NRIP2 (Varview)
                                      Functional Consequence:
                                      intron_variant,genic_downstream_transcript_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      -=0.000036/5 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1486430960 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G [Show Flanks]
                                        Chromosome:
                                        12:2831638 (GRCh38)
                                        12:2940804 (GRCh37)
                                        Canonical SPDI:
                                        NC_000012.12:2831637:C:G
                                        Gene:
                                        ITFG2 (Varview), NRIP2 (Varview)
                                        Functional Consequence:
                                        intron_variant,genic_downstream_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:
                                        20.

                                        rs1486347916 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          12:2834900 (GRCh38)
                                          12:2944066 (GRCh37)
                                          Canonical SPDI:
                                          NC_000012.12:2834899:T:C
                                          Gene:
                                          ITFG2 (Varview), NRIP2 (Varview)
                                          Functional Consequence:
                                          intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0.0001/1 (ALFA)
                                          HGVS:

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