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Links from Nucleotide

Items: 1 to 20 of 368

1.

rs1485135976 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    8:76523764 (GRCh38)
    8:77435999 (GRCh37)
    Canonical SPDI:
    NC_000008.11:76523763:G:A
    Gene:
    LINC01111 (Varview), LOC107986952 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000004/1 (TOPMED)
    A=0.000007/1 (GnomAD)
    HGVS:
    2.

    rs1483672574 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A,C [Show Flanks]
      Chromosome:
      8:76433650 (GRCh38)
      8:77345885 (GRCh37)
      Canonical SPDI:
      NC_000008.11:76433649:G:A,NC_000008.11:76433649:G:C
      Gene:
      LINC01111 (Varview)
      Functional Consequence:
      non_coding_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0.000054/1 (ALFA)
      A=0.000004/1 (TOPMED)
      A=0.000007/1 (GnomAD)
      C=0.000223/1 (Estonian)
      HGVS:
      3.

      rs1481642483 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        8:76523560 (GRCh38)
        8:77435795 (GRCh37)
        Canonical SPDI:
        NC_000008.11:76523559:G:A
        Gene:
        LINC01111 (Varview), LOC107986952 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        A=0./0 (ALFA)
        A=0.000008/2 (TOPMED)
        HGVS:
        4.

        rs1481364323 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          8:76523335 (GRCh38)
          8:77435570 (GRCh37)
          Canonical SPDI:
          NC_000008.11:76523334:A:G
          Gene:
          LINC01111 (Varview), LOC107986952 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          G=0./0 (ALFA)
          G=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1477926726 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>C [Show Flanks]
            Chromosome:
            8:76433689 (GRCh38)
            8:77345924 (GRCh37)
            Canonical SPDI:
            NC_000008.11:76433688:A:C
            Gene:
            LINC01111 (Varview)
            Functional Consequence:
            non_coding_transcript_variant
            Validated:
            by frequency
            MAF:
            C=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1475928786 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>C [Show Flanks]
              Chromosome:
              8:76524334 (GRCh38)
              8:77436569 (GRCh37)
              Canonical SPDI:
              NC_000008.11:76524333:A:C
              Gene:
              LINC01111 (Varview), LOC107986952 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1469512439 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>C [Show Flanks]
                Chromosome:
                8:76524331 (GRCh38)
                8:77436566 (GRCh37)
                Canonical SPDI:
                NC_000008.11:76524330:A:C
                Gene:
                LINC01111 (Varview), LOC107986952 (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=0.000046/2 (GnomAD)
                HGVS:
                8.

                rs1468778163 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  ->A [Show Flanks]
                  Chromosome:
                  8:76523581 (GRCh38)
                  8:77435817 (GRCh37)
                  Canonical SPDI:
                  NC_000008.11:76523581:AAAAA:AAAAAA
                  Gene:
                  LINC01111 (Varview), LOC107986952 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  AAAAAA=0./0 (ALFA)
                  A=0.000004/1 (TOPMED)
                  A=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1468558246 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>A [Show Flanks]
                    Chromosome:
                    8:76406680 (GRCh38)
                    8:77318915 (GRCh37)
                    Canonical SPDI:
                    NC_000008.11:76406679:T:A
                    Gene:
                    LINC01111 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000014/2 (GnomAD)
                    A=0.00003/8 (TOPMED)
                    HGVS:
                    10.

                    rs1468376141 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      8:76523677 (GRCh38)
                      8:77435912 (GRCh37)
                      Canonical SPDI:
                      NC_000008.11:76523676:G:A
                      Gene:
                      LINC01111 (Varview), LOC107986952 (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:
                      11.

                      rs1464218167 has merged into rs1165203329 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        ATAATA>-,ATA,ATAATAATA [Show Flanks]
                        Chromosome:
                        8:76524127 (GRCh38)
                        8:77436362 (GRCh37)
                        Canonical SPDI:
                        NC_000008.11:76524119:AATAATAATAATA:AATAATA,NC_000008.11:76524119:AATAATAATAATA:AATAATAATA,NC_000008.11:76524119:AATAATAATAATA:AATAATAATAATAATA
                        Gene:
                        LINC01111 (Varview), LOC107986952 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        AATAATAATAATAATA=0./0 (ALFA)
                        -=0.000019/5 (TOPMED)
                        -=0.000035/1 (TOMMO)
                        HGVS:
                        12.

                        rs1454763447 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          8:76523878 (GRCh38)
                          8:77436113 (GRCh37)
                          Canonical SPDI:
                          NC_000008.11:76523877:C:T
                          Gene:
                          LINC01111 (Varview), LOC107986952 (Varview)
                          Functional Consequence:
                          intron_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000023/6 (TOPMED)
                          HGVS:
                          13.

                          rs1453022229 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>C,G,T [Show Flanks]
                            Chromosome:
                            8:76433646 (GRCh38)
                            8:77345881 (GRCh37)
                            Canonical SPDI:
                            NC_000008.11:76433645:A:C,NC_000008.11:76433645:A:G,NC_000008.11:76433645:A:T
                            Gene:
                            LINC01111 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.00014/2 (TOMMO)
                            HGVS:
                            14.

                            rs1452386166 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              8:76524353 (GRCh38)
                              8:77436588 (GRCh37)
                              Canonical SPDI:
                              NC_000008.11:76524352:A:G
                              Gene:
                              LINC01111 (Varview), LOC107986952 (Varview)
                              Functional Consequence:
                              intron_variant,non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0.000071/1 (ALFA)
                              G=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1452252609 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                8:76406675 (GRCh38)
                                8:77318910 (GRCh37)
                                Canonical SPDI:
                                NC_000008.11:76406674:G:A
                                Gene:
                                LINC01111 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000015/4 (TOPMED)
                                HGVS:
                                16.

                                rs1452016133 has merged into rs1003600624 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  CAGAATGTG>-,CAGAATGTGCAGAATGTG [Show Flanks]
                                  Chromosome:
                                  8:76510416 (GRCh38)
                                  8:77422651 (GRCh37)
                                  Canonical SPDI:
                                  NC_000008.11:76510401:ATGTGCAGAATGTGCAGAATGTG:ATGTGCAGAATGTG,NC_000008.11:76510401:ATGTGCAGAATGTGCAGAATGTG:ATGTGCAGAATGTGCAGAATGTGCAGAATGTG
                                  Gene:
                                  LINC01111 (Varview), LOC107986952 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  ATGTGCAGAATGTGCAGAATGTGCAGAATGTG=0./0 (ALFA)
                                  HGVS:
                                  17.

                                  rs1443726304 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>C [Show Flanks]
                                    Chromosome:
                                    8:76523498 (GRCh38)
                                    8:77435733 (GRCh37)
                                    Canonical SPDI:
                                    NC_000008.11:76523497:A:C
                                    Gene:
                                    LINC01111 (Varview), LOC107986952 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0./0 (ALFA)
                                    HGVS:
                                    18.

                                    rs1443551350 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A,G [Show Flanks]
                                      Chromosome:
                                      8:76406766 (GRCh38)
                                      8:77319001 (GRCh37)
                                      Canonical SPDI:
                                      NC_000008.11:76406765:C:A,NC_000008.11:76406765:C:G
                                      Gene:
                                      LINC01111 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      HGVS:
                                      19.

                                      rs1443043221 has merged into rs34760266 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        AAAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                                        Chromosome:
                                        8:76524340 (GRCh38)
                                        8:77436575 (GRCh37)
                                        Canonical SPDI:
                                        NC_000008.11:76524330:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000008.11:76524330:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000008.11:76524330:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:76524330:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:76524330:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:76524330:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:76524330:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:76524330:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:76524330:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000008.11:76524330:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000008.11:76524330:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000008.11:76524330:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000008.11:76524330:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:76524330:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:76524330:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:76524330:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:76524330:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:76524330:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:76524330:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:76524330:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:76524330:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:76524330:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:76524330:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:76524330:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:76524330:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                                        Gene:
                                        LINC01111 (Varview), LOC107986952 (Varview)
                                        Functional Consequence:
                                        intron_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        AAAAAAAAA=0./0 (ALFA)
                                        HGVS:
                                        NC_000008.11:g.76524340_76524356del, NC_000008.11:g.76524342_76524356del, NC_000008.11:g.76524343_76524356del, NC_000008.11:g.76524344_76524356del, NC_000008.11:g.76524345_76524356del, NC_000008.11:g.76524346_76524356del, NC_000008.11:g.76524347_76524356del, NC_000008.11:g.76524348_76524356del, NC_000008.11:g.76524349_76524356del, NC_000008.11:g.76524350_76524356del, NC_000008.11:g.76524351_76524356del, NC_000008.11:g.76524352_76524356del, NC_000008.11:g.76524353_76524356del, NC_000008.11:g.76524354_76524356del, NC_000008.11:g.76524355_76524356del, NC_000008.11:g.76524356del, NC_000008.11:g.76524356dup, NC_000008.11:g.76524355_76524356dup, NC_000008.11:g.76524354_76524356dup, NC_000008.11:g.76524353_76524356dup, NC_000008.11:g.76524352_76524356dup, NC_000008.11:g.76524350_76524356dup, NC_000008.11:g.76524349_76524356dup, NC_000008.11:g.76524347_76524356dup, NC_000008.11:g.76524335_76524356dup, NC_000008.10:g.77436575_77436591del, NC_000008.10:g.77436577_77436591del, NC_000008.10:g.77436578_77436591del, NC_000008.10:g.77436579_77436591del, NC_000008.10:g.77436580_77436591del, NC_000008.10:g.77436581_77436591del, NC_000008.10:g.77436582_77436591del, NC_000008.10:g.77436583_77436591del, NC_000008.10:g.77436584_77436591del, NC_000008.10:g.77436585_77436591del, NC_000008.10:g.77436586_77436591del, NC_000008.10:g.77436587_77436591del, NC_000008.10:g.77436588_77436591del, NC_000008.10:g.77436589_77436591del, NC_000008.10:g.77436590_77436591del, NC_000008.10:g.77436591del, NC_000008.10:g.77436591dup, NC_000008.10:g.77436590_77436591dup, NC_000008.10:g.77436589_77436591dup, NC_000008.10:g.77436588_77436591dup, NC_000008.10:g.77436587_77436591dup, NC_000008.10:g.77436585_77436591dup, NC_000008.10:g.77436584_77436591dup, NC_000008.10:g.77436582_77436591dup, NC_000008.10:g.77436570_77436591dup, NR_105006.1:n.1647_1663del, NR_105006.1:n.1649_1663del, NR_105006.1:n.1650_1663del, NR_105006.1:n.1651_1663del, NR_105006.1:n.1652_1663del, NR_105006.1:n.1653_1663del, NR_105006.1:n.1654_1663del, NR_105006.1:n.1655_1663del, NR_105006.1:n.1656_1663del, NR_105006.1:n.1657_1663del, NR_105006.1:n.1658_1663del, NR_105006.1:n.1659_1663del, NR_105006.1:n.1660_1663del, NR_105006.1:n.1661_1663del, NR_105006.1:n.1662_1663del, NR_105006.1:n.1663del, NR_105006.1:n.1663dup, NR_105006.1:n.1662_1663dup, NR_105006.1:n.1661_1663dup, NR_105006.1:n.1660_1663dup, NR_105006.1:n.1659_1663dup, NR_105006.1:n.1657_1663dup, NR_105006.1:n.1656_1663dup, NR_105006.1:n.1654_1663dup, NR_105006.1:n.1642_1663dup
                                        20.

                                        rs1442003447 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A,T [Show Flanks]
                                          Chromosome:
                                          8:76523350 (GRCh38)
                                          8:77435585 (GRCh37)
                                          Canonical SPDI:
                                          NC_000008.11:76523349:C:A,NC_000008.11:76523349:C:T
                                          Gene:
                                          LINC01111 (Varview), LOC107986952 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          A=0.000014/2 (GnomAD)
                                          HGVS:

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