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Items: 1 to 20 of 2479

1.

rs1490760472 has merged into rs1451042701 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    T>-,TT [Show Flanks]
    Chromosome:
    1:110409325 (GRCh38)
    1:110951947 (GRCh37)
    Canonical SPDI:
    NC_000001.11:110409324:TTTTTT:TTTTT,NC_000001.11:110409324:TTTTTT:TTTTTTT
    Gene:
    LAMTOR5 (Varview), LAMTOR5-AS1 (Varview)
    Functional Consequence:
    upstream_transcript_variant,intron_variant,2KB_upstream_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTTTTT=0./0 (ALFA)
    -=0.000004/1 (TOPMED)
    HGVS:
    2.

    rs1490745167 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>A [Show Flanks]
      Chromosome:
      1:110411064 (GRCh38)
      1:110953686 (GRCh37)
      Canonical SPDI:
      NC_000001.11:110411063:T:A
      Gene:
      LAMTOR5-AS1 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000007/1 (GnomAD)
      A=0.000008/2 (TOPMED)
      HGVS:
      3.

      rs1489928272 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A,G,T [Show Flanks]
        Chromosome:
        1:110410407 (GRCh38)
        1:110953029 (GRCh37)
        Canonical SPDI:
        NC_000001.11:110410406:C:A,NC_000001.11:110410406:C:G,NC_000001.11:110410406:C:T
        Gene:
        LAMTOR5-AS1 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0.000769/9 (ALFA)
        G=0.000004/1 (TOPMED)
        A=0.001345/23 (TOMMO)
        HGVS:
        4.

        rs1489452004 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          G>- [Show Flanks]
          Chromosome:
          1:110407409 (GRCh38)
          1:110950031 (GRCh37)
          Canonical SPDI:
          NC_000001.11:110407408:GGG:GG
          Gene:
          LAMTOR5 (Varview), LAMTOR5-AS1 (Varview)
          Functional Consequence:
          intron_variant,upstream_transcript_variant,2KB_upstream_variant
          Validated:
          by frequency,by alfa
          MAF:
          GG=0./0 (ALFA)
          -=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1488759687 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            1:110414358 (GRCh38)
            1:110956980 (GRCh37)
            Canonical SPDI:
            NC_000001.11:110414357:G:A
            Gene:
            LAMTOR5-AS1 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.00005/7 (GnomAD)
            A=0.0002/53 (TOPMED)
            HGVS:
            6.

            rs1488546562 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              1:110409229 (GRCh38)
              1:110951851 (GRCh37)
              Canonical SPDI:
              NC_000001.11:110409228:G:A
              Gene:
              LAMTOR5 (Varview), LAMTOR5-AS1 (Varview)
              Functional Consequence:
              intron_variant,upstream_transcript_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0./0 (ALFA)
              A=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1487466836 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                1:110414780 (GRCh38)
                1:110957402 (GRCh37)
                Canonical SPDI:
                NC_000001.11:110414779:C:T
                Gene:
                LAMTOR5-AS1 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0.000066/1 (ALFA)
                T=0.00005/7 (GnomAD)
                T=0.000223/1 (Estonian)
                HGVS:
                8.

                rs1487398769 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  1:110415815 (GRCh38)
                  1:110958437 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:110415814:T:C
                  Gene:
                  LAMTOR5-AS1 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  C=0./0 (ALFA)
                  HGVS:
                  9.

                  rs1487122749 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    1:110413393 (GRCh38)
                    1:110956015 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:110413392:C:T
                    Gene:
                    LAMTOR5-AS1 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1487061326 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      T>- [Show Flanks]
                      Chromosome:
                      1:110415672 (GRCh38)
                      1:110958294 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:110415671:TT:T
                      Gene:
                      LAMTOR5-AS1 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      TT=0.000142/2 (ALFA)
                      -=0.000157/22 (GnomAD)
                      -=0.0002/53 (TOPMED)
                      HGVS:
                      11.

                      rs1486584715 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        1:110410251 (GRCh38)
                        1:110952873 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:110410250:G:A
                        Gene:
                        LAMTOR5-AS1 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000021/3 (GnomAD)
                        A=0.000142/2 (TOMMO)
                        HGVS:
                        12.

                        rs1486490478 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          1:110410948 (GRCh38)
                          1:110953570 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:110410947:A:G
                          Gene:
                          LAMTOR5-AS1 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000004/1 (TOPMED)
                          G=0.000014/2 (GnomAD)
                          HGVS:
                          13.

                          rs1486444431 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            1:110406911 (GRCh38)
                            1:110949533 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:110406910:C:T
                            Gene:
                            LAMTOR5 (Varview), LAMTOR5-AS1 (Varview)
                            Functional Consequence:
                            intron_variant,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:
                            14.

                            rs1486366080 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              1:110411879 (GRCh38)
                              1:110954501 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:110411878:C:T
                              Gene:
                              LAMTOR5-AS1 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0.01304/213 (ALFA)
                              T=0.00479/14 (KOREAN)
                              HGVS:
                              15.

                              rs1486300606 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G [Show Flanks]
                                Chromosome:
                                1:110407623 (GRCh38)
                                1:110950245 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:110407622:C:G
                                Gene:
                                LAMTOR5 (Varview), LAMTOR5-AS1 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,2KB_upstream_variant,missense_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000004/1 (TOPMED)
                                HGVS:
                                16.

                                rs1486290500 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  1:110414378 (GRCh38)
                                  1:110957000 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:110414377:G:A
                                  Gene:
                                  LAMTOR5-AS1 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000007/1 (GnomAD)
                                  A=0.000008/2 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1486238970 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    1:110415667 (GRCh38)
                                    1:110958289 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:110415666:C:T
                                    Gene:
                                    LAMTOR5-AS1 (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:
                                    18.

                                    rs1485870791 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A,G [Show Flanks]
                                      Chromosome:
                                      1:110406998 (GRCh38)
                                      1:110949620 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:110406997:C:A,NC_000001.11:110406997:C:G
                                      Gene:
                                      LAMTOR5 (Varview), LAMTOR5-AS1 (Varview)
                                      Functional Consequence:
                                      intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      HGVS:
                                      19.

                                      rs1485711254 [Homo sapiens]
                                        Variant type:
                                        INS
                                        Alleles:
                                        ->GT [Show Flanks]
                                        Chromosome:
                                        1:110410265 (GRCh38)
                                        1:110952888 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:110410265::GT
                                        Gene:
                                        LAMTOR5-AS1 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by cluster
                                        MAF:
                                        GT=0.000029/4 (GnomAD)
                                        GT=0.000212/4 (TOMMO)
                                        HGVS:
                                        20.

                                        rs1485417011 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A,T [Show Flanks]
                                          Chromosome:
                                          1:110406411 (GRCh38)
                                          1:110949033 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:110406410:C:A,NC_000001.11:110406410:C:T
                                          Gene:
                                          LAMTOR5 (Varview), LAMTOR5-AS1 (Varview)
                                          Functional Consequence:
                                          intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          HGVS:

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