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Items: 1 to 20 of 1251

1.

rs1490280847 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    8:81462907 (GRCh38)
    8:82375142 (GRCh37)
    Canonical SPDI:
    NC_000008.11:81462906:A:G
    Gene:
    FABP9 (Varview), LOC101927118 (Varview)
    Functional Consequence:
    genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000007/1 (GnomAD)
    G=0.000177/3 (TOMMO)
    HGVS:
    2.

    rs1489048054 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      8:81462647 (GRCh38)
      8:82374882 (GRCh37)
      Canonical SPDI:
      NC_000008.11:81462646:T:C
      Gene:
      FABP9 (Varview), LOC101927118 (Varview)
      Functional Consequence:
      genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.00003/8 (TOPMED)
      C=0.000036/5 (GnomAD)
      HGVS:
      3.

      rs1489000580 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G [Show Flanks]
        Chromosome:
        8:81461405 (GRCh38)
        8:82373640 (GRCh37)
        Canonical SPDI:
        NC_000008.11:81461404:C:G
        Gene:
        FABP9 (Varview), LOC101927118 (Varview)
        Functional Consequence:
        2KB_upstream_variant,intron_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000004/1 (GnomAD_exomes)
        G=0.000014/2 (GnomAD)
        HGVS:
        4.

        rs1488389960 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,C [Show Flanks]
          Chromosome:
          8:81460192 (GRCh38)
          8:82372427 (GRCh37)
          Canonical SPDI:
          NC_000008.11:81460191:G:A,NC_000008.11:81460191:G:C
          Gene:
          FABP9 (Varview), LOC101927118 (Varview)
          Functional Consequence:
          2KB_upstream_variant,intron_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          A=0.00016/1 (1000Genomes)
          HGVS:
          5.

          rs1488160858 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            8:81459337 (GRCh38)
            8:82371572 (GRCh37)
            Canonical SPDI:
            NC_000008.11:81459336:C:T
            Gene:
            FABP9 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000004/1 (TOPMED)
            T=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1488032711 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              8:81462265 (GRCh38)
              8:82374500 (GRCh37)
              Canonical SPDI:
              NC_000008.11:81462264:A:G
              Gene:
              FABP9 (Varview), LOC101927118 (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,2KB_upstream_variant,intron_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:
              7.

              rs1487957432 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>G [Show Flanks]
                Chromosome:
                8:81462640 (GRCh38)
                8:82374875 (GRCh37)
                Canonical SPDI:
                NC_000008.11:81462639:T:G
                Gene:
                FABP9 (Varview), LOC101927118 (Varview)
                Functional Consequence:
                genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000004/1 (TOPMED)
                G=0.000029/4 (GnomAD)
                HGVS:
                8.

                rs1486836718 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  8:81458323 (GRCh38)
                  8:82370558 (GRCh37)
                  Canonical SPDI:
                  NC_000008.11:81458322:A:G
                  Gene:
                  FABP9 (Varview)
                  Functional Consequence:
                  3_prime_UTR_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0.000071/1 (ALFA)
                  G=0.000015/4 (TOPMED)
                  G=0.000029/4 (GnomAD)
                  HGVS:
                  9.

                  rs1486617007 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    8:81462797 (GRCh38)
                    8:82375032 (GRCh37)
                    Canonical SPDI:
                    NC_000008.11:81462796:A:G
                    Gene:
                    FABP9 (Varview), LOC101927118 (Varview)
                    Functional Consequence:
                    genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000007/1 (GnomAD)
                    G=0.000008/2 (TOPMED)
                    HGVS:
                    10.

                    rs1486394307 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A,C [Show Flanks]
                      Chromosome:
                      8:81461731 (GRCh38)
                      8:82373966 (GRCh37)
                      Canonical SPDI:
                      NC_000008.11:81461730:G:A,NC_000008.11:81461730:G:C
                      Gene:
                      FABP9 (Varview), LOC101927118 (Varview)
                      Functional Consequence:
                      genic_upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      A=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1486064189 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        8:81461225 (GRCh38)
                        8:82373460 (GRCh37)
                        Canonical SPDI:
                        NC_000008.11:81461224:A:G
                        Gene:
                        FABP9 (Varview), LOC101927118 (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,upstream_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0.000071/1 (ALFA)
                        G=0.000011/3 (TOPMED)
                        HGVS:
                        12.

                        rs1485855688 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>A,C [Show Flanks]
                          Chromosome:
                          8:81459464 (GRCh38)
                          8:82371699 (GRCh37)
                          Canonical SPDI:
                          NC_000008.11:81459463:T:A,NC_000008.11:81459463:T:C
                          Gene:
                          FABP9 (Varview), LOC101927118 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,upstream_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0./0 (ALFA)
                          HGVS:
                          13.

                          rs1484429685 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            8:81460618 (GRCh38)
                            8:82372853 (GRCh37)
                            Canonical SPDI:
                            NC_000008.11:81460617:A:G
                            Gene:
                            FABP9 (Varview), LOC101927118 (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,upstream_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000008/2 (TOPMED)
                            HGVS:
                            14.

                            rs1484263669 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              8:81463273 (GRCh38)
                              8:82375508 (GRCh37)
                              Canonical SPDI:
                              NC_000008.11:81463272:T:C
                              Gene:
                              FABP9 (Varview), LOC101927118 (Varview)
                              Functional Consequence:
                              genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0.000054/1 (ALFA)
                              C=0.000053/14 (TOPMED)
                              C=0.000078/11 (GnomAD)
                              C=0.000223/1 (Estonian)
                              HGVS:
                              15.

                              rs1484045094 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                AAATCTAT>- [Show Flanks]
                                Chromosome:
                                8:81460487 (GRCh38)
                                8:82372722 (GRCh37)
                                Canonical SPDI:
                                NC_000008.11:81460481:TCTATAAATCTAT:TCTAT
                                Gene:
                                FABP9 (Varview), LOC101927118 (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,upstream_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                TCTAT=0./0 (ALFA)
                                -=0.000004/1 (TOPMED)
                                -=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1483509135 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>T [Show Flanks]
                                  Chromosome:
                                  8:81459163 (GRCh38)
                                  8:82371398 (GRCh37)
                                  Canonical SPDI:
                                  NC_000008.11:81459162:A:T
                                  Gene:
                                  FABP9 (Varview)
                                  Functional Consequence:
                                  splice_donor_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  T=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  17.

                                  rs1482725506 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    8:81459776 (GRCh38)
                                    8:82372011 (GRCh37)
                                    Canonical SPDI:
                                    NC_000008.11:81459775:T:C
                                    Gene:
                                    FABP9 (Varview), LOC101927118 (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,upstream_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000021/3 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1482510854 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      ->T [Show Flanks]
                                      Chromosome:
                                      8:81458585 (GRCh38)
                                      8:82370821 (GRCh37)
                                      Canonical SPDI:
                                      NC_000008.11:81458585:TTT:TTTT
                                      Gene:
                                      FABP9 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      TTTT=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      T=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1482384285 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A,T [Show Flanks]
                                        Chromosome:
                                        8:81461614 (GRCh38)
                                        8:82373849 (GRCh37)
                                        Canonical SPDI:
                                        NC_000008.11:81461613:G:A,NC_000008.11:81461613:G:T
                                        Gene:
                                        FABP9 (Varview), LOC101927118 (Varview)
                                        Functional Consequence:
                                        genic_upstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000007/1 (GnomAD)
                                        A=0.000008/2 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1482207650 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>G [Show Flanks]
                                          Chromosome:
                                          8:81462948 (GRCh38)
                                          8:82375183 (GRCh37)
                                          Canonical SPDI:
                                          NC_000008.11:81462947:T:G
                                          Gene:
                                          FABP9 (Varview), LOC101927118 (Varview)
                                          Functional Consequence:
                                          genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000004/1 (TOPMED)
                                          G=0.000007/1 (GnomAD)
                                          HGVS:

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