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Links from Nucleotide

Items: 1 to 20 of 122

1.

rs1487495441 has merged into rs1189537057 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    CTCT>-,CT [Show Flanks]
    Chromosome:
    6:95577385 (GRCh38)
    6:96025261 (GRCh37)
    Canonical SPDI:
    NC_000006.12:95577382:CTCTCT:CT,NC_000006.12:95577382:CTCTCT:CTCT
    Gene:
    MANEA (Varview), MANEA-DT (Varview)
    Functional Consequence:
    non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    CT=0./0 (ALFA)
    -=0.00006/16 (TOPMED)
    HGVS:
    2.

    rs1483872414 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>G [Show Flanks]
      Chromosome:
      6:95567288 (GRCh38)
      6:96015164 (GRCh37)
      Canonical SPDI:
      NC_000006.12:95567287:T:G
      Gene:
      MANEA-DT (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,non_coding_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:
      3.

      rs1480808044 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G [Show Flanks]
        Chromosome:
        6:95577371 (GRCh38)
        6:96025247 (GRCh37)
        Canonical SPDI:
        NC_000006.12:95577370:C:G
        Gene:
        MANEA (Varview), MANEA-DT (Varview)
        Functional Consequence:
        2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000008/2 (TOPMED)
        G=0.000021/3 (GnomAD)
        HGVS:
        4.

        rs1477242129 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>T [Show Flanks]
          Chromosome:
          6:95567266 (GRCh38)
          6:96015142 (GRCh37)
          Canonical SPDI:
          NC_000006.12:95567265:G:T
          Gene:
          MANEA-DT (Varview)
          Functional Consequence:
          non_coding_transcript_variant,genic_downstream_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:
          5.

          rs1472420214 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ->A [Show Flanks]
            Chromosome:
            6:95577243 (GRCh38)
            6:96025120 (GRCh37)
            Canonical SPDI:
            NC_000006.12:95577243:A:AA
            Gene:
            MANEA (Varview), MANEA-DT (Varview)
            Functional Consequence:
            2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            AA=0./0 (ALFA)
            A=0.000008/2 (TOPMED)
            HGVS:
            6.

            rs1471990265 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>A [Show Flanks]
              Chromosome:
              6:95577139 (GRCh38)
              6:96025015 (GRCh37)
              Canonical SPDI:
              NC_000006.12:95577138:T:A
              Gene:
              MANEA (Varview), MANEA-DT (Varview)
              Functional Consequence:
              2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1467867392 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                6:95567255 (GRCh38)
                6:96015131 (GRCh37)
                Canonical SPDI:
                NC_000006.12:95567254:G:A
                Gene:
                MANEA-DT (Varview)
                Functional Consequence:
                non_coding_transcript_variant,genic_downstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0./0 (ALFA)
                A=0.000004/1 (TOPMED)
                HGVS:
                8.

                rs1453801757 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  ->C [Show Flanks]
                  Chromosome:
                  6:95577447 (GRCh38)
                  6:96025324 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:95577447:CCCC:CCCCC
                  Gene:
                  MANEA (Varview), MANEA-DT (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  CCCCC=0./0 (ALFA)
                  C=0.000004/1 (TOPMED)
                  C=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1448491505 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G [Show Flanks]
                    Chromosome:
                    6:95577361 (GRCh38)
                    6:96025237 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:95577360:C:G
                    Gene:
                    MANEA (Varview), MANEA-DT (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1447043512 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      6:95577114 (GRCh38)
                      6:96024990 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:95577113:C:T
                      Gene:
                      MANEA (Varview), MANEA-DT (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      HGVS:
                      11.

                      rs1437757035 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        C>- [Show Flanks]
                        Chromosome:
                        6:95577257 (GRCh38)
                        6:96025133 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:95577256:CCC:CC
                        Gene:
                        MANEA (Varview), MANEA-DT (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        CC=0./0 (ALFA)
                        -=0.000007/1 (GnomAD)
                        -=0.000011/3 (TOPMED)
                        HGVS:
                        12.

                        rs1435030341 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A,T [Show Flanks]
                          Chromosome:
                          6:95577340 (GRCh38)
                          6:96025216 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:95577339:C:A,NC_000006.12:95577339:C:T
                          Gene:
                          MANEA (Varview), MANEA-DT (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          A=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1425967714 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            6:95577209 (GRCh38)
                            6:96025085 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:95577208:C:T
                            Gene:
                            MANEA (Varview), MANEA-DT (Varview)
                            Functional Consequence:
                            non_coding_transcript_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.

                            rs1421590945 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>T [Show Flanks]
                              Chromosome:
                              6:95577427 (GRCh38)
                              6:96025303 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:95577426:G:T
                              Gene:
                              MANEA (Varview), MANEA-DT (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000008/2 (TOPMED)
                              T=0.000014/2 (GnomAD)
                              HGVS:
                              15.

                              rs1410534457 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                GT>- [Show Flanks]
                                Chromosome:
                                6:95577239 (GRCh38)
                                6:96025115 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:95577237:TGT:T
                                Gene:
                                MANEA (Varview), MANEA-DT (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                -=0.000008/2 (TOPMED)
                                HGVS:
                                16.

                                rs1410062508 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  6:95577358 (GRCh38)
                                  6:96025234 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:95577357:T:C
                                  Gene:
                                  MANEA (Varview), MANEA-DT (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0./0 (GnomAD)
                                  C=0.000008/2 (TOPMED)
                                  C=0.000156/1 (1000Genomes)
                                  HGVS:
                                  17.

                                  rs1405498074 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    6:95577387 (GRCh38)
                                    6:96025263 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:95577386:C:T
                                    Gene:
                                    MANEA (Varview), MANEA-DT (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1403964804 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      6:95577234 (GRCh38)
                                      6:96025110 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:95577233:C:T
                                      Gene:
                                      MANEA (Varview), MANEA-DT (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000019/5 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1390435030 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        6:95577111 (GRCh38)
                                        6:96024987 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:95577110:G:A
                                        Gene:
                                        MANEA (Varview), MANEA-DT (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000036/5 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1386386064 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>C [Show Flanks]
                                          Chromosome:
                                          6:95577126 (GRCh38)
                                          6:96025002 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:95577125:A:C
                                          Gene:
                                          MANEA (Varview), MANEA-DT (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,non_coding_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:

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