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Links from Nucleotide

Items: 1 to 20 of 28

1.

rs1463659164 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>G,T [Show Flanks]
    Chromosome:
    10:75552540 (GRCh38)
    10:77312298 (GRCh37)
    Canonical SPDI:
    NC_000010.11:75552539:C:G,NC_000010.11:75552539:C:T
    Gene:
    LRMDA (Varview), MIR606 (Varview)
    Functional Consequence:
    intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0.000071/1 (ALFA)
    T=0.000007/1 (GnomAD)
    HGVS:
    2.

    rs1456512179 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>C,G,T [Show Flanks]
      Chromosome:
      10:75552501 (GRCh38)
      10:77312259 (GRCh37)
      Canonical SPDI:
      NC_000010.11:75552500:A:C,NC_000010.11:75552500:A:G,NC_000010.11:75552500:A:T
      Gene:
      LRMDA (Varview), MIR606 (Varview)
      Functional Consequence:
      genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      C=0.000005/1 (GnomAD_exomes)
      G=0.000007/1 (GnomAD)
      T=0.000106/3 (TOMMO)
      HGVS:
      3.

      rs1412942758 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        10:75552468 (GRCh38)
        10:77312226 (GRCh37)
        Canonical SPDI:
        NC_000010.11:75552467:G:A
        Gene:
        LRMDA (Varview), MIR606 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        A=0.000071/1 (ALFA)
        A=0.000004/1 (TOPMED)
        HGVS:
        4.

        rs1401948183 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>T [Show Flanks]
          Chromosome:
          10:75552536 (GRCh38)
          10:77312294 (GRCh37)
          Canonical SPDI:
          NC_000010.11:75552535:G:T
          Gene:
          LRMDA (Varview), MIR606 (Varview)
          Functional Consequence:
          intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
          HGVS:
          5.

          rs1322240988 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            10:75552464 (GRCh38)
            10:77312222 (GRCh37)
            Canonical SPDI:
            NC_000010.11:75552463:C:T
            Gene:
            LRMDA (Varview), MIR606 (Varview)
            Functional Consequence:
            intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000004/1 (TOPMED)
            T=0.000009/1 (GnomAD_exomes)
            HGVS:
            6.

            rs1263422700 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              10:75552479 (GRCh38)
              10:77312237 (GRCh37)
              Canonical SPDI:
              NC_000010.11:75552478:T:C
              Gene:
              LRMDA (Varview), MIR606 (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
              HGVS:
              7.

              rs1258954196 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                ->A [Show Flanks]
                Chromosome:
                10:75552552 (GRCh38)
                10:77312311 (GRCh37)
                Canonical SPDI:
                NC_000010.11:75552552:A:AA
                Gene:
                LRMDA (Varview), MIR606 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                AA=0./0 (ALFA)
                HGVS:
                8.

                rs1199543384 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  G>- [Show Flanks]
                  Chromosome:
                  10:75552488 (GRCh38)
                  10:77312246 (GRCh37)
                  Canonical SPDI:
                  NC_000010.11:75552487:G:
                  Gene:
                  LRMDA (Varview), MIR606 (Varview)
                  Functional Consequence:
                  genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  -=0./0 (ALFA)
                  -=0.000013/2 (GnomAD_exomes)
                  -=0.000015/4 (TOPMED)
                  HGVS:
                  9.

                  rs1178086115 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    10:75552502 (GRCh38)
                    10:77312260 (GRCh37)
                    Canonical SPDI:
                    NC_000010.11:75552501:T:C
                    Gene:
                    LRMDA (Varview), MIR606 (Varview)
                    Functional Consequence:
                    intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                    HGVS:
                    10.

                    rs1173607431 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      10:75552466 (GRCh38)
                      10:77312224 (GRCh37)
                      Canonical SPDI:
                      NC_000010.11:75552465:T:C
                      Gene:
                      LRMDA (Varview), MIR606 (Varview)
                      Functional Consequence:
                      intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
                      HGVS:
                      11.

                      rs1170950214 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        10:75552523 (GRCh38)
                        10:77312281 (GRCh37)
                        Canonical SPDI:
                        NC_000010.11:75552522:A:G
                        Gene:
                        LRMDA (Varview), MIR606 (Varview)
                        Functional Consequence:
                        intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000004/1 (TOPMED)
                        G=0.000005/1 (GnomAD_exomes)
                        G=0.000007/1 (GnomAD)
                        A=0.5/1 (SGDP_PRJ)
                        HGVS:
                        12.

                        rs1158806131 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          10:75552496 (GRCh38)
                          10:77312254 (GRCh37)
                          Canonical SPDI:
                          NC_000010.11:75552495:G:A
                          Gene:
                          LRMDA (Varview), MIR606 (Varview)
                          Functional Consequence:
                          genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000004/1 (TOPMED)
                          HGVS:
                          13.

                          rs1039793877 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            10:75552510 (GRCh38)
                            10:77312268 (GRCh37)
                            Canonical SPDI:
                            NC_000010.11:75552509:A:G
                            Gene:
                            LRMDA (Varview), MIR606 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,genic_upstream_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:
                            14.

                            rs912601084 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>A,C [Show Flanks]
                              Chromosome:
                              10:75552481 (GRCh38)
                              10:77312239 (GRCh37)
                              Canonical SPDI:
                              NC_000010.11:75552480:T:A,NC_000010.11:75552480:T:C
                              Gene:
                              LRMDA (Varview), MIR606 (Varview)
                              Functional Consequence:
                              intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              A=0.000008/2 (TOPMED)
                              HGVS:
                              15.

                              rs868788828 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A,T [Show Flanks]
                                Chromosome:
                                10:75552545 (GRCh38)
                                10:77312303 (GRCh37)
                                Canonical SPDI:
                                NC_000010.11:75552544:G:A,NC_000010.11:75552544:G:T
                                Gene:
                                LRMDA (Varview), MIR606 (Varview)
                                Functional Consequence:
                                genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0.000071/1 (ALFA)
                                A=0.000004/1 (TOPMED)
                                T=0.00463/1 (Qatari)
                                HGVS:
                                16.

                                rs780004234 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  10:75552497 (GRCh38)
                                  10:77312255 (GRCh37)
                                  Canonical SPDI:
                                  NC_000010.11:75552496:T:C
                                  Gene:
                                  LRMDA (Varview), MIR606 (Varview)
                                  Functional Consequence:
                                  genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by cluster
                                  MAF:
                                  C=0.000006/1 (GnomAD_exomes)
                                  C=0.000033/1 (ExAC)
                                  HGVS:
                                  17.

                                  rs777850764 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    10:75552513 (GRCh38)
                                    10:77312271 (GRCh37)
                                    Canonical SPDI:
                                    NC_000010.11:75552512:A:G
                                    Gene:
                                    LRMDA (Varview), MIR606 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0./0 (ExAC)
                                    G=0.000007/1 (GnomAD)
                                    G=0.000008/2 (TOPMED)
                                    HGVS:
                                    18.

                                    rs773812389 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      10:75552512 (GRCh38)
                                      10:77312270 (GRCh37)
                                      Canonical SPDI:
                                      NC_000010.11:75552511:C:T
                                      Gene:
                                      LRMDA (Varview), MIR606 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by cluster
                                      MAF:
                                      T=0./0 (TWINSUK)
                                      T=0.0003/1 (ALSPAC)
                                      HGVS:
                                      19.

                                      rs770869203 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        10:75552522 (GRCh38)
                                        10:77312280 (GRCh37)
                                        Canonical SPDI:
                                        NC_000010.11:75552521:T:C
                                        Gene:
                                        LRMDA (Varview), MIR606 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by cluster
                                        MAF:
                                        C=0.00003/1 (ExAC)
                                        HGVS:
                                        20.

                                        rs758362716 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          10:75552486 (GRCh38)
                                          10:77312244 (GRCh37)
                                          Canonical SPDI:
                                          NC_000010.11:75552485:A:G
                                          Gene:
                                          LRMDA (Varview), MIR606 (Varview)
                                          Functional Consequence:
                                          genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000038/1 (ExAC)
                                          G=0.000053/8 (GnomAD_exomes)
                                          G=0.000117/16 (GnomAD)
                                          HGVS:

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