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Items: 1 to 20 of 785

1.

rs1491583487 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->CT [Show Flanks]
    Chromosome:
    17:42753914 (GRCh38)
    17:40905933 (GRCh37)
    Canonical SPDI:
    NC_000017.11:42753914:T:TCT
    Gene:
    RAMP2-AS1 (Varview)
    Functional Consequence:
    non_coding_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TCT=0./0 (ALFA)
    TC=0.000008/1 (GnomAD)
    TC=0.000008/2 (TOPMED)
    HGVS:
    2.

    rs1491441469 has merged into rs779187369 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TTTTTTTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT [Show Flanks]
      Chromosome:
      17:42753923 (GRCh38)
      17:40905941 (GRCh37)
      Canonical SPDI:
      NC_000017.11:42753913:TTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000017.11:42753913:TTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000017.11:42753913:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:42753913:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:42753913:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:42753913:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:42753913:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:42753913:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:42753913:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:42753913:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:42753913:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:42753913:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:42753913:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:42753913:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:42753913:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
      Gene:
      RAMP2-AS1 (Varview)
      Functional Consequence:
      non_coding_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TTTTTTTTTT=0./0 (ALFA)
      -=0.000106/28 (TOPMED)
      T=0.425/17 (GENOME_DK)
      HGVS:
      NC_000017.11:g.42753923_42753930del, NC_000017.11:g.42753924_42753930del, NC_000017.11:g.42753925_42753930del, NC_000017.11:g.42753927_42753930del, NC_000017.11:g.42753928_42753930del, NC_000017.11:g.42753929_42753930del, NC_000017.11:g.42753930del, NC_000017.11:g.42753930dup, NC_000017.11:g.42753929_42753930dup, NC_000017.11:g.42753928_42753930dup, NC_000017.11:g.42753927_42753930dup, NC_000017.11:g.42753926_42753930dup, NC_000017.11:g.42753925_42753930dup, NC_000017.11:g.42753923_42753930dup, NC_000017.11:g.42753922_42753930dup, NC_000017.10:g.40905941_40905948del, NC_000017.10:g.40905942_40905948del, NC_000017.10:g.40905943_40905948del, NC_000017.10:g.40905945_40905948del, NC_000017.10:g.40905946_40905948del, NC_000017.10:g.40905947_40905948del, NC_000017.10:g.40905948del, NC_000017.10:g.40905948dup, NC_000017.10:g.40905947_40905948dup, NC_000017.10:g.40905946_40905948dup, NC_000017.10:g.40905945_40905948dup, NC_000017.10:g.40905944_40905948dup, NC_000017.10:g.40905943_40905948dup, NC_000017.10:g.40905941_40905948dup, NC_000017.10:g.40905940_40905948dup, NG_028969.1:g.86_93del, NG_028969.1:g.87_93del, NG_028969.1:g.88_93del, NG_028969.1:g.90_93del, NG_028969.1:g.91_93del, NG_028969.1:g.92_93del, NG_028969.1:g.93del, NG_028969.1:g.93dup, NG_028969.1:g.92_93dup, NG_028969.1:g.91_93dup, NG_028969.1:g.90_93dup, NG_028969.1:g.89_93dup, NG_028969.1:g.88_93dup, NG_028969.1:g.86_93dup, NG_028969.1:g.85_93dup, NR_024461.1:n.3265_3272del, NR_024461.1:n.3266_3272del, NR_024461.1:n.3267_3272del, NR_024461.1:n.3269_3272del, NR_024461.1:n.3270_3272del, NR_024461.1:n.3271_3272del, NR_024461.1:n.3272del, NR_024461.1:n.3272dup, NR_024461.1:n.3271_3272dup, NR_024461.1:n.3270_3272dup, NR_024461.1:n.3269_3272dup, NR_024461.1:n.3268_3272dup, NR_024461.1:n.3267_3272dup, NR_024461.1:n.3265_3272dup, NR_024461.1:n.3264_3272dup, NR_024462.1:n.1689_1696del, NR_024462.1:n.1690_1696del, NR_024462.1:n.1691_1696del, NR_024462.1:n.1693_1696del, NR_024462.1:n.1694_1696del, NR_024462.1:n.1695_1696del, NR_024462.1:n.1696del, NR_024462.1:n.1696dup, NR_024462.1:n.1695_1696dup, NR_024462.1:n.1694_1696dup, NR_024462.1:n.1693_1696dup, NR_024462.1:n.1692_1696dup, NR_024462.1:n.1691_1696dup, NR_024462.1:n.1689_1696dup, NR_024462.1:n.1688_1696dup
      3.

      rs1490029341 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        17:42759859 (GRCh38)
        17:40911877 (GRCh37)
        Canonical SPDI:
        NC_000017.11:42759858:G:A
        Gene:
        RAMP2 (Varview), RAMP2-AS1 (Varview)
        Functional Consequence:
        2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000007/1 (GnomAD)
        A=0.000015/4 (TOPMED)
        A=0.000043/6 (GnomAD_exomes)
        HGVS:
        4.

        rs1486996275 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          17:42761236 (GRCh38)
          17:40913254 (GRCh37)
          Canonical SPDI:
          NC_000017.11:42761235:G:A
          Gene:
          RAMP2 (Varview), RAMP2-AS1 (Varview)
          Functional Consequence:
          5_prime_UTR_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (TOPMED)
          HGVS:
          5.

          rs1486755233 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>T [Show Flanks]
            Chromosome:
            17:42754255 (GRCh38)
            17:40906273 (GRCh37)
            Canonical SPDI:
            NC_000017.11:42754254:G:T
            Gene:
            RAMP2-AS1 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            T=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1486211531 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              17:42754780 (GRCh38)
              17:40906798 (GRCh37)
              Canonical SPDI:
              NC_000017.11:42754779:C:T
              Gene:
              RAMP2-AS1 (Varview)
              Functional Consequence:
              non_coding_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:
              7.

              rs1485492782 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                17:42754928 (GRCh38)
                17:40906946 (GRCh37)
                Canonical SPDI:
                NC_000017.11:42754927:T:C
                Gene:
                RAMP2-AS1 (Varview)
                Functional Consequence:
                non_coding_transcript_variant
                HGVS:
                8.

                rs1485264066 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>C [Show Flanks]
                  Chromosome:
                  17:42756287 (GRCh38)
                  17:40908305 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:42756286:G:C
                  Gene:
                  RAMP2-AS1 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (TOPMED)
                  C=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1484991547 [Homo sapiens]
                    Variant type:
                    DEL
                    Alleles:
                    G>- [Show Flanks]
                    Chromosome:
                    17:42753931 (GRCh38)
                    17:40905949 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:42753930:G:
                    Gene:
                    RAMP2-AS1 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    -=0./0 (ALFA)
                    -=0.000073/10 (GnomAD)
                    HGVS:
                    10.

                    rs1484178297 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A,C [Show Flanks]
                      Chromosome:
                      17:42760492 (GRCh38)
                      17:40912510 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:42760491:G:A,NC_000017.11:42760491:G:C
                      Gene:
                      RAMP2 (Varview), RAMP2-AS1 (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000004/1 (TOPMED)
                      A=0.000007/1 (GnomAD_exomes)
                      HGVS:
                      11.

                      rs1482324053 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        17:42756116 (GRCh38)
                        17:40908134 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:42756115:A:G
                        Gene:
                        RAMP2-AS1 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000007/1 (GnomAD)
                        G=0.000008/2 (TOPMED)
                        HGVS:
                        12.

                        rs1480190820 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          17:42756279 (GRCh38)
                          17:40908297 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:42756278:A:G
                          Gene:
                          RAMP2-AS1 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000007/1 (GnomAD)
                          G=0.000019/5 (TOPMED)
                          HGVS:
                          13.

                          rs1480060139 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G,T [Show Flanks]
                            Chromosome:
                            17:42761240 (GRCh38)
                            17:40913258 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:42761239:C:G,NC_000017.11:42761239:C:T
                            Gene:
                            RAMP2 (Varview), RAMP2-AS1 (Varview)
                            Functional Consequence:
                            5_prime_UTR_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (TOPMED)
                            T=0.000007/1 (GnomAD)
                            G=0.000014/1 (GnomAD_exomes)
                            HGVS:
                            14.

                            rs1479824345 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              17:42759804 (GRCh38)
                              17:40911822 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:42759803:G:A
                              Gene:
                              RAMP2 (Varview), RAMP2-AS1 (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0.000094/1 (ALFA)
                              A=0.000007/1 (GnomAD)
                              A=0.000007/1 (GnomAD_exomes)
                              A=0.000008/2 (TOPMED)
                              HGVS:
                              15.

                              rs1479204207 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                17:42755864 (GRCh38)
                                17:40907882 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:42755863:C:T
                                Gene:
                                RAMP2-AS1 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (TOPMED)
                                T=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1477802368 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>C,G [Show Flanks]
                                  Chromosome:
                                  17:42756098 (GRCh38)
                                  17:40908116 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:42756097:A:C,NC_000017.11:42756097:A:G
                                  Gene:
                                  RAMP2-AS1 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000007/1 (GnomAD)
                                  C=0.002183/4 (Korea1K)
                                  HGVS:
                                  17.

                                  rs1477764762 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>C [Show Flanks]
                                    Chromosome:
                                    17:42754336 (GRCh38)
                                    17:40906354 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:42754335:G:C
                                    Gene:
                                    RAMP2-AS1 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000008/2 (TOPMED)
                                    C=0.000014/2 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1477727928 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      17:42755073 (GRCh38)
                                      17:40907091 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:42755072:G:A
                                      Gene:
                                      RAMP2-AS1 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1475954786 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        17:42755669 (GRCh38)
                                        17:40907687 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:42755668:G:A
                                        Gene:
                                        RAMP2-AS1 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1475907651 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          17:42754922 (GRCh38)
                                          17:40906940 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:42754921:T:C
                                          Gene:
                                          RAMP2-AS1 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000021/3 (GnomAD)
                                          C=0.000023/6 (TOPMED)
                                          HGVS:

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