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Items: 1 to 20 of 5243

1.

rs1491458051 has merged into rs35877406 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTTT [Show Flanks]
    Chromosome:
    12:92467743 (GRCh38)
    12:92861519 (GRCh37)
    Canonical SPDI:
    NC_000012.12:92467729:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:92467729:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:92467729:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:92467729:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:92467729:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:92467729:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:92467729:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:92467729:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:92467729:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:92467729:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
    Gene:
    LINC02397 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTTTTTTTTTTTTTTTTTTT=0./0 (ALFA)
    T=0.2095/1049 (1000Genomes)
    HGVS:

    2.

    rs1491284454 has merged into rs35877406 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTTT [Show Flanks]
      Chromosome:
      12:92467743 (GRCh38)
      12:92861519 (GRCh37)
      Canonical SPDI:
      NC_000012.12:92467729:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:92467729:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:92467729:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:92467729:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:92467729:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:92467729:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:92467729:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:92467729:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:92467729:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:92467729:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
      Gene:
      LINC02397 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TTTTTTTTTTTTTTTTTTTTT=0./0 (ALFA)
      T=0.2095/1049 (1000Genomes)
      HGVS:

      3.

      rs1491186082 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->AT,ATAT,ATATAT,ATATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATAAATAT,ATATATATATATATAT,ATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATATAT,ATATATATATATATATATATATAT,ATATATATATATATATATATATATAT,ATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATAT,ATATATATATATATCTATATATAT [Show Flanks]
        Chromosome:
        12:92473112 (GRCh38)
        12:92866889 (GRCh37)
        Canonical SPDI:
        NC_000012.12:92473112:T:TAT,NC_000012.12:92473112:T:TATAT,NC_000012.12:92473112:T:TATATAT,NC_000012.12:92473112:T:TATATATAT,NC_000012.12:92473112:T:TATATATATAT,NC_000012.12:92473112:T:TATATATATATAT,NC_000012.12:92473112:T:TATATATATATATAT,NC_000012.12:92473112:T:TATATATATATATATAAATAT,NC_000012.12:92473112:T:TATATATATATATATAT,NC_000012.12:92473112:T:TATATATATATATATATAT,NC_000012.12:92473112:T:TATATATATATATATATATAT,NC_000012.12:92473112:T:TATATATATATATATATATATAT,NC_000012.12:92473112:T:TATATATATATATATATATATATAT,NC_000012.12:92473112:T:TATATATATATATATATATATATATAT,NC_000012.12:92473112:T:TATATATATATATATATATATATATATAT,NC_000012.12:92473112:T:TATATATATATATATATATATATATATATAT,NC_000012.12:92473112:T:TATATATATATATATATATATATATATATATAT,NC_000012.12:92473112:T:TATATATATATATATATATATATATATATATATAT,NC_000012.12:92473112:T:TATATATATATATATCTATATATAT
        Gene:
        LINC02397 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TATAT=0./0 (ALFA)
        HGVS:
        NC_000012.12:g.92473113_92473114insAT, NC_000012.12:g.92473113_92473114insATAT, NC_000012.12:g.92473114AT[3], NC_000012.12:g.92473114AT[4], NC_000012.12:g.92473114AT[5], NC_000012.12:g.92473114AT[6], NC_000012.12:g.92473114AT[7], NC_000012.12:g.92473113TA[8]AATAT[1], NC_000012.12:g.92473114AT[8], NC_000012.12:g.92473114AT[9], NC_000012.12:g.92473114AT[10], NC_000012.12:g.92473114AT[11], NC_000012.12:g.92473114AT[12], NC_000012.12:g.92473114AT[13], NC_000012.12:g.92473114AT[14], NC_000012.12:g.92473114AT[15], NC_000012.12:g.92473114AT[16], NC_000012.12:g.92473114AT[17], NC_000012.12:g.92473113TA[7]TCTATATATAT[1], NC_000012.11:g.92866889_92866890insAT, NC_000012.11:g.92866889_92866890insATAT, NC_000012.11:g.92866890AT[3], NC_000012.11:g.92866890AT[4], NC_000012.11:g.92866890AT[5], NC_000012.11:g.92866890AT[6], NC_000012.11:g.92866890AT[7], NC_000012.11:g.92866889TA[8]AATAT[1], NC_000012.11:g.92866890AT[8], NC_000012.11:g.92866890AT[9], NC_000012.11:g.92866890AT[10], NC_000012.11:g.92866890AT[11], NC_000012.11:g.92866890AT[12], NC_000012.11:g.92866890AT[13], NC_000012.11:g.92866890AT[14], NC_000012.11:g.92866890AT[15], NC_000012.11:g.92866890AT[16], NC_000012.11:g.92866890AT[17], NC_000012.11:g.92866889TA[7]TCTATATATAT[1]

        4.

        rs1491179314 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ->GTAT,GTATATAT,GTATATATATATAT,GTATATATATATATAT,GTATATATATATATATAT,GTATATATATATATATATAT,GTATATATATATATATATATAT,GTATATATATATATATATATATAT,GTATATATATATATATATATATATAT,GTATATATATATATATATATATATATATAT,GTGTATATATATAT,GTGTATATATATATATATAT [Show Flanks]
          Chromosome:
          12:92473114 (GRCh38)
          12:92866891 (GRCh37)
          Canonical SPDI:
          NC_000012.12:92473114:T:TGTAT,NC_000012.12:92473114:T:TGTATATAT,NC_000012.12:92473114:T:TGTATATATATATAT,NC_000012.12:92473114:T:TGTATATATATATATAT,NC_000012.12:92473114:T:TGTATATATATATATATAT,NC_000012.12:92473114:T:TGTATATATATATATATATAT,NC_000012.12:92473114:T:TGTATATATATATATATATATAT,NC_000012.12:92473114:T:TGTATATATATATATATATATATAT,NC_000012.12:92473114:T:TGTATATATATATATATATATATATAT,NC_000012.12:92473114:T:TGTATATATATATATATATATATATATATAT,NC_000012.12:92473114:T:TGTGTATATATATAT,NC_000012.12:92473114:T:TGTGTATATATATATATATAT
          Gene:
          LINC02397 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TGTATATAT=0./0 (ALFA)
          HGVS:
          NC_000012.12:g.92473115_92473116insGTAT, NC_000012.12:g.92473115_92473116insGTATATAT, NC_000012.12:g.92473115_92473116insGTATATATATATAT, NC_000012.12:g.92473115_92473116insGTATATATATATATAT, NC_000012.12:g.92473115_92473116insGTATATATATATATATAT, NC_000012.12:g.92473115_92473116insGTATATATATATATATATAT, NC_000012.12:g.92473115_92473116insGTATATATATATATATATATAT, NC_000012.12:g.92473115_92473116insGTATATATATATATATATATATAT, NC_000012.12:g.92473115_92473116insGTATATATATATATATATATATATAT, NC_000012.12:g.92473115_92473116insGTATATATATATATATATATATATATATAT, NC_000012.12:g.92473115TG[2]TA[5]T[1], NC_000012.12:g.92473115TG[2]TA[8]T[1], NC_000012.11:g.92866891_92866892insGTAT, NC_000012.11:g.92866891_92866892insGTATATAT, NC_000012.11:g.92866891_92866892insGTATATATATATAT, NC_000012.11:g.92866891_92866892insGTATATATATATATAT, NC_000012.11:g.92866891_92866892insGTATATATATATATATAT, NC_000012.11:g.92866891_92866892insGTATATATATATATATATAT, NC_000012.11:g.92866891_92866892insGTATATATATATATATATATAT, NC_000012.11:g.92866891_92866892insGTATATATATATATATATATATAT, NC_000012.11:g.92866891_92866892insGTATATATATATATATATATATATAT, NC_000012.11:g.92866891_92866892insGTATATATATATATATATATATATATATAT, NC_000012.11:g.92866891TG[2]TA[5]T[1], NC_000012.11:g.92866891TG[2]TA[8]T[1]

          5.

          rs1491148446 has merged into rs145379003 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            GT>-,GTGT,GTGTGT [Show Flanks]
            Chromosome:
            12:92473114 (GRCh38)
            12:92866890 (GRCh37)
            Canonical SPDI:
            NC_000012.12:92473111:GTGT:GT,NC_000012.12:92473111:GTGT:GTGTGT,NC_000012.12:92473111:GTGT:GTGTGTGT
            Gene:
            LINC02397 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            GTGTGTGT=0./0 (ALFA)
            GTGT=0.000004/1 (TOPMED)
            -=0.011749/181 (TOMMO)
            -=0.246552/143 (NorthernSweden)
            GT=0.420712/1560 (TWINSUK)
            HGVS:

            6.

            rs1491061198 has merged into rs35964865 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              AA>-,A,AAA,AAAA [Show Flanks]
              Chromosome:
              12:92479904 (GRCh38)
              12:92873680 (GRCh37)
              Canonical SPDI:
              NC_000012.12:92479893:AAAAAAAAAAAA:AAAAAAAAAA,NC_000012.12:92479893:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:92479893:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:92479893:AAAAAAAAAAAA:AAAAAAAAAAAAAA
              Gene:
              LINC02397 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              AAAAAAAAAAAAAA=0./0 (ALFA)
              -=0.24361/1220 (1000Genomes)
              HGVS:

              7.

              rs1490977551 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                12:92476286 (GRCh38)
                12:92870062 (GRCh37)
                Canonical SPDI:
                NC_000012.12:92476285:G:A
                Gene:
                LINC02397 (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.

                rs1490880718 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  12:92477379 (GRCh38)
                  12:92871155 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:92477378:A:G
                  Gene:
                  LINC02397 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0./0 (ALFA)
                  HGVS:

                  9.

                  rs1490669474 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G,T [Show Flanks]
                    Chromosome:
                    12:92481704 (GRCh38)
                    12:92875480 (GRCh37)
                    Canonical SPDI:
                    NC_000012.12:92481703:A:G,NC_000012.12:92481703:A:T
                    Gene:
                    LINC02397 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0./0 (ALFA)
                    HGVS:

                    10.

                    rs1490537291 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>C [Show Flanks]
                      Chromosome:
                      12:92468703 (GRCh38)
                      12:92862479 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:92468702:A:C
                      Gene:
                      LINC02397 (Varview)
                      Functional Consequence:
                      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:

                      11.

                      rs1490521377 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>A,G [Show Flanks]
                        Chromosome:
                        12:92479289 (GRCh38)
                        12:92873065 (GRCh37)
                        Canonical SPDI:
                        NC_000012.12:92479288:T:A,NC_000012.12:92479288:T:G
                        Gene:
                        LINC02397 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0./0 (ALFA)
                        A=0.000007/1 (GnomAD)
                        HGVS:

                        12.

                        rs1490452951 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          12:92484723 (GRCh38)
                          12:92878499 (GRCh37)
                          Canonical SPDI:
                          NC_000012.12:92484722:T:C
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          HGVS:

                          13.

                          rs1490177796 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A,C [Show Flanks]
                            Chromosome:
                            12:92480581 (GRCh38)
                            12:92874357 (GRCh37)
                            Canonical SPDI:
                            NC_000012.12:92480580:G:A,NC_000012.12:92480580:G:C
                            Gene:
                            LINC02397 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (TOPMED)
                            A=0.000007/1 (GnomAD)
                            HGVS:

                            14.

                            rs1490030028 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>C [Show Flanks]
                              Chromosome:
                              12:92478223 (GRCh38)
                              12:92871999 (GRCh37)
                              Canonical SPDI:
                              NC_000012.12:92478222:A:C
                              Gene:
                              LINC02397 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0.000071/1 (ALFA)
                              C=0.00003/8 (TOPMED)
                              C=0.000036/5 (GnomAD)
                              HGVS:

                              15.

                              rs1489962681 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                12:92485326 (GRCh38)
                                12:92879102 (GRCh37)
                                Canonical SPDI:
                                NC_000012.12:92485325:C:T
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000014/2 (GnomAD)
                                HGVS:

                                16.

                                rs1489953154 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>T [Show Flanks]
                                  Chromosome:
                                  12:92470920 (GRCh38)
                                  12:92864696 (GRCh37)
                                  Canonical SPDI:
                                  NC_000012.12:92470919:A:T
                                  Gene:
                                  LINC02397 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  HGVS:

                                  17.

                                  rs1489679071 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    12:92477887 (GRCh38)
                                    12:92871663 (GRCh37)
                                    Canonical SPDI:
                                    NC_000012.12:92477886:C:T
                                    Gene:
                                    LINC02397 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000014/2 (GnomAD)
                                    T=0.000034/9 (TOPMED)
                                    HGVS:

                                    18.

                                    rs1489646009 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>T [Show Flanks]
                                      Chromosome:
                                      12:92475701 (GRCh38)
                                      12:92869477 (GRCh37)
                                      Canonical SPDI:
                                      NC_000012.12:92475700:A:T
                                      Gene:
                                      LINC02397 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000007/1 (GnomAD)
                                      HGVS:

                                      19.

                                      rs1489604963 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A,C [Show Flanks]
                                        Chromosome:
                                        12:92465379 (GRCh38)
                                        12:92859155 (GRCh37)
                                        Canonical SPDI:
                                        NC_000012.12:92465378:G:A,NC_000012.12:92465378:G:C
                                        Gene:
                                        LINC02397 (Varview)
                                        Functional Consequence:
                                        2KB_upstream_variant,upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        HGVS:

                                        20.

                                        rs1489554278 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>C [Show Flanks]
                                          Chromosome:
                                          12:92466653 (GRCh38)
                                          12:92860429 (GRCh37)
                                          Canonical SPDI:
                                          NC_000012.12:92466652:A:C
                                          Gene:
                                          LINC02397 (Varview)
                                          Functional Consequence:
                                          2KB_upstream_variant,upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0.000162/3 (ALFA)
                                          C=0.000008/2 (TOPMED)
                                          C=0.000021/3 (GnomAD)
                                          C=0.00067/3 (Estonian)
                                          HGVS:

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