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Items: 1 to 20 of 1009

1.

rs1490798123 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>C,G [Show Flanks]
    Chromosome:
    11:127230030 (GRCh38)
    11:127099925 (GRCh37)
    Canonical SPDI:
    NC_000011.10:127230029:A:C,NC_000011.10:127230029:A:G
    Gene:
    LOC107984379 (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.

    rs1490455321 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TG>- [Show Flanks]
      Chromosome:
      11:127229205 (GRCh38)
      11:127099100 (GRCh37)
      Canonical SPDI:
      NC_000011.10:127229203:GTG:G
      Gene:
      LOC107984379 (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0.000641/9 (ALFA)
      -=0.000314/44 (GnomAD)
      -=0.000529/140 (TOPMED)
      HGVS:
      3.

      rs1485573167 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        11:127231228 (GRCh38)
        11:127101123 (GRCh37)
        Canonical SPDI:
        NC_000011.10:127231227:G:A
        Gene:
        LOC107984379 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        A=0./0 (ALFA)
        HGVS:
        4.

        rs1485552132 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>G [Show Flanks]
          Chromosome:
          11:127232152 (GRCh38)
          11:127102047 (GRCh37)
          Canonical SPDI:
          NC_000011.10:127232151:T:G
          Gene:
          LOC107984379 (Varview)
          Functional Consequence:
          downstream_transcript_variant,500B_downstream_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0.000071/1 (ALFA)
          G=0.000004/1 (TOPMED)
          G=0.000014/2 (GnomAD)
          HGVS:
          5.

          rs1485448204 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G,T [Show Flanks]
            Chromosome:
            11:127228521 (GRCh38)
            11:127098416 (GRCh37)
            Canonical SPDI:
            NC_000011.10:127228520:A:G,NC_000011.10:127228520:A:T
            Gene:
            LOC107984379 (Varview)
            Functional Consequence:
            2KB_upstream_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            G=0.000004/1 (TOPMED)
            G=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1484525203 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              11:127228133 (GRCh38)
              11:127098028 (GRCh37)
              Canonical SPDI:
              NC_000011.10:127228132:G:A
              Gene:
              LOC107984379 (Varview)
              Functional Consequence:
              2KB_upstream_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1483917282 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A [Show Flanks]
                Chromosome:
                11:127231067 (GRCh38)
                11:127100962 (GRCh37)
                Canonical SPDI:
                NC_000011.10:127231066:C:A
                Gene:
                LOC107984379 (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:
                8.

                rs1483727801 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A,C [Show Flanks]
                  Chromosome:
                  11:127231992 (GRCh38)
                  11:127101887 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:127231991:G:A,NC_000011.10:127231991:G:C
                  Gene:
                  LOC107984379 (Varview)
                  Functional Consequence:
                  downstream_transcript_variant,500B_downstream_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  C=0./0 (ALFA)
                  A=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1482283594 has merged into rs1367075845 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    G>-,GG [Show Flanks]
                    Chromosome:
                    11:127229950 (GRCh38)
                    11:127099845 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:127229949:GGGGGG:GGGGG,NC_000011.10:127229949:GGGGGG:GGGGGGG
                    Gene:
                    LOC107984379 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    GGGGGGG=0./0 (ALFA)
                    -=0.000008/2 (TOPMED)
                    HGVS:
                    10.

                    rs1482040602 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      11:127229903 (GRCh38)
                      11:127099798 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:127229902:C:T
                      Gene:
                      LOC107984379 (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,2KB_upstream_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000008/2 (TOPMED)
                      HGVS:
                      11.

                      rs1481997719 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>C [Show Flanks]
                        Chromosome:
                        11:127228809 (GRCh38)
                        11:127098704 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:127228808:G:C
                        Gene:
                        LOC107984379 (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000007/1 (GnomAD)
                        C=0.000008/2 (TOPMED)
                        C=0.000312/2 (1000Genomes)
                        HGVS:
                        12.

                        rs1481991386 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>T [Show Flanks]
                          Chromosome:
                          11:127230970 (GRCh38)
                          11:127100865 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:127230969:G:T
                          Gene:
                          LOC107984379 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000004/1 (TOPMED)
                          HGVS:
                          13.

                          rs1481212585 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G,T [Show Flanks]
                            Chromosome:
                            11:127228504 (GRCh38)
                            11:127098399 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:127228503:C:G,NC_000011.10:127228503:C:T
                            Gene:
                            LOC107984379 (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.00004/1 (TOMMO)
                            T=0.00068/2 (KOREAN)
                            HGVS:
                            14.

                            rs1481158626 has merged into rs57092906 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC>-,CTTCCTTCCTTC,CTTCCTTCCTTCCTTC,CTTCCTTCCTTCCTTCCTTC,CTTCCTTCCTTCCTTCCTTCCTTC,CTTCCTTCCTTCCTTCCTTCCTTCCTTC,CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC,CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC,CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC,CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC,CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC,CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC,CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC,CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC,CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC [Show Flanks]
                              Chromosome:
                              11:127229444 (GRCh38)
                              11:127099339 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:127229428:TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC:TTCCTTCCTTCCTTC,NC_000011.10:127229428:TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC:TTCCTTCCTTCCTTCCTTCCTTCCTTC,NC_000011.10:127229428:TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC:TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC,NC_000011.10:127229428:TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC:TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC,NC_000011.10:127229428:TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC:TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC,NC_000011.10:127229428:TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC:TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC,NC_000011.10:127229428:TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC:TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC,NC_000011.10:127229428:TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC:TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC,NC_000011.10:127229428:TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC:TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC,NC_000011.10:127229428:TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC:TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC,NC_000011.10:127229428:TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC:TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC,NC_000011.10:127229428:TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC:TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC,NC_000011.10:127229428:TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC:TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC,NC_000011.10:127229428:TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC:TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC,NC_000011.10:127229428:TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC:TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC
                              Gene:
                              LOC107984379 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC=0./0 (ALFA)
                              HGVS:
                              NC_000011.10:g.127229432CTTC[3], NC_000011.10:g.127229432CTTC[6], NC_000011.10:g.127229432CTTC[7], NC_000011.10:g.127229432CTTC[8], NC_000011.10:g.127229432CTTC[9], NC_000011.10:g.127229432CTTC[10], NC_000011.10:g.127229432CTTC[11], NC_000011.10:g.127229432CTTC[12], NC_000011.10:g.127229432CTTC[13], NC_000011.10:g.127229432CTTC[15], NC_000011.10:g.127229432CTTC[16], NC_000011.10:g.127229432CTTC[17], NC_000011.10:g.127229432CTTC[18], NC_000011.10:g.127229432CTTC[19], NC_000011.10:g.127229432CTTC[20], NC_000011.9:g.127099327CTTC[3], NC_000011.9:g.127099327CTTC[6], NC_000011.9:g.127099327CTTC[7], NC_000011.9:g.127099327CTTC[8], NC_000011.9:g.127099327CTTC[9], NC_000011.9:g.127099327CTTC[10], NC_000011.9:g.127099327CTTC[11], NC_000011.9:g.127099327CTTC[12], NC_000011.9:g.127099327CTTC[13], NC_000011.9:g.127099327CTTC[15], NC_000011.9:g.127099327CTTC[16], NC_000011.9:g.127099327CTTC[17], NC_000011.9:g.127099327CTTC[18], NC_000011.9:g.127099327CTTC[19], NC_000011.9:g.127099327CTTC[20]
                              15.

                              rs1480698856 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                11:127228886 (GRCh38)
                                11:127098781 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:127228885:T:C
                                Gene:
                                LOC107984379 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (TOPMED)
                                C=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1479525199 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>T [Show Flanks]
                                  Chromosome:
                                  11:127232202 (GRCh38)
                                  11:127102097 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:127232201:A:T
                                  Gene:
                                  LOC107984379 (Varview)
                                  Functional Consequence:
                                  downstream_transcript_variant,500B_downstream_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.

                                  rs1478475295 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>T [Show Flanks]
                                    Chromosome:
                                    11:127228933 (GRCh38)
                                    11:127098828 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:127228932:A:T
                                    Gene:
                                    LOC107984379 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000008/2 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1478198116 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      11:127228014 (GRCh38)
                                      11:127097909 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:127228013:G:A
                                      Gene:
                                      LOC107984379 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0.000071/1 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      A=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1477990820 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>C [Show Flanks]
                                        Chromosome:
                                        11:127229697 (GRCh38)
                                        11:127099592 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:127229696:G:C
                                        Gene:
                                        LOC107984379 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000004/1 (TOPMED)
                                        C=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1477941887 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C,G [Show Flanks]
                                          Chromosome:
                                          11:127230717 (GRCh38)
                                          11:127100612 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:127230716:T:C,NC_000011.10:127230716:T:G
                                          Gene:
                                          LOC107984379 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          C=0.000007/1 (GnomAD)
                                          HGVS:

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