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Items: 1 to 20 of 12425

1.

rs1491384852 has merged into rs3060571 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    CTCTCTCTCTCT>-,CT,CTCT,CTCTCT,CTCTCTCT,CTCTCTCTCT,CTCTCTCTCTCTCT,CTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCT [Show Flanks]
    Chromosome:
    10:80178223 (GRCh38)
    10:81937979 (GRCh37)
    Canonical SPDI:
    NC_000010.11:80178210:CTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCT,NC_000010.11:80178210:CTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCT,NC_000010.11:80178210:CTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCT,NC_000010.11:80178210:CTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCT,NC_000010.11:80178210:CTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCT,NC_000010.11:80178210:CTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCT,NC_000010.11:80178210:CTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000010.11:80178210:CTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000010.11:80178210:CTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000010.11:80178210:CTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000010.11:80178210:CTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000010.11:80178210:CTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT
    Gene:
    ANXA11 (Varview)
    Functional Consequence:
    genic_upstream_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    CTCTCTCTCTCTCT=0./0 (ALFA)
    -=0.17672/885 (1000Genomes)
    HGVS:

    2.

    rs1491342265 has merged into rs746498821 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      GCGCGC>-,GC,GCGC,GCGCGCGC [Show Flanks]
      Chromosome:
      10:80166038 (GRCh38)
      10:81925794 (GRCh37)
      Canonical SPDI:
      NC_000010.11:80166036:CGCGCGC:C,NC_000010.11:80166036:CGCGCGC:CGC,NC_000010.11:80166036:CGCGCGC:CGCGC,NC_000010.11:80166036:CGCGCGC:CGCGCGCGC
      Gene:
      ANXA11 (Varview)
      Functional Consequence:
      intron_variant
      Clinical significance:
      benign
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      CGC=0.00047/9 (ALFA)
      -=0.05838/225 (ALSPAC)
      -=0.08636/157 (Korea1K)
      -=0.09754/1618 (TOMMO)
      -=0.19186/33 (Vietnamese)
      -=0.225/9 (GENOME_DK)
      -=0.27685/165 (NorthernSweden)
      HGVS:

      3.

      rs1491322531 [Homo sapiens]
        Variant type:
        INS
        Alleles:
        ->G [Show Flanks]
        Chromosome:
        10:80199096 (GRCh38)
        10:81958853 (GRCh37)
        Canonical SPDI:
        NC_000010.11:80199096::G
        Gene:
        ANXA11 (Varview)
        Functional Consequence:
        genic_upstream_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        G=0./0 (ALFA)
        G=0.00003/3 (GnomAD)
        HGVS:

        4.

        rs1491304670 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ->T [Show Flanks]
          Chromosome:
          10:80184207 (GRCh38)
          10:81943964 (GRCh37)
          Canonical SPDI:
          NC_000010.11:80184207:T:TT
          Gene:
          ANXA11 (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TT=0./0 (ALFA)
          T=0.000004/1 (TOPMED)
          T=0.000007/1 (GnomAD)
          HGVS:

          5.

          rs1491277092 has merged into rs11444706 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            AAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA [Show Flanks]
            Chromosome:
            10:80203053 (GRCh38)
            10:81962809 (GRCh37)
            Canonical SPDI:
            NC_000010.11:80203044:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000010.11:80203044:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000010.11:80203044:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000010.11:80203044:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:80203044:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:80203044:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:80203044:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:80203044:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:80203044:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:80203044:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:80203044:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:80203044:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:80203044:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:80203044:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
            Gene:
            ANXA11 (Varview)
            Functional Consequence:
            intron_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            AAAAAAAAAA=0./0 (ALFA)
            -=0.3/12 (GENOME_DK)
            HGVS:
            NC_000010.11:g.80203053_80203065del, NC_000010.11:g.80203055_80203065del, NC_000010.11:g.80203056_80203065del, NC_000010.11:g.80203057_80203065del, NC_000010.11:g.80203059_80203065del, NC_000010.11:g.80203060_80203065del, NC_000010.11:g.80203062_80203065del, NC_000010.11:g.80203063_80203065del, NC_000010.11:g.80203064_80203065del, NC_000010.11:g.80203065del, NC_000010.11:g.80203065dup, NC_000010.11:g.80203064_80203065dup, NC_000010.11:g.80203063_80203065dup, NC_000010.11:g.80203061_80203065dup, NC_000010.10:g.81962809_81962821del, NC_000010.10:g.81962811_81962821del, NC_000010.10:g.81962812_81962821del, NC_000010.10:g.81962813_81962821del, NC_000010.10:g.81962815_81962821del, NC_000010.10:g.81962816_81962821del, NC_000010.10:g.81962818_81962821del, NC_000010.10:g.81962819_81962821del, NC_000010.10:g.81962820_81962821del, NC_000010.10:g.81962821del, NC_000010.10:g.81962821dup, NC_000010.10:g.81962820_81962821dup, NC_000010.10:g.81962819_81962821dup, NC_000010.10:g.81962817_81962821dup

            6.

            rs1491267691 has merged into rs746498821 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              GCGCGC>-,GC,GCGC,GCGCGCGC [Show Flanks]
              Chromosome:
              10:80166038 (GRCh38)
              10:81925794 (GRCh37)
              Canonical SPDI:
              NC_000010.11:80166036:CGCGCGC:C,NC_000010.11:80166036:CGCGCGC:CGC,NC_000010.11:80166036:CGCGCGC:CGCGC,NC_000010.11:80166036:CGCGCGC:CGCGCGCGC
              Gene:
              ANXA11 (Varview)
              Functional Consequence:
              intron_variant
              Clinical significance:
              benign
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              CGC=0.00047/9 (ALFA)
              -=0.05838/225 (ALSPAC)
              -=0.08636/157 (Korea1K)
              -=0.09754/1618 (TOMMO)
              -=0.19186/33 (Vietnamese)
              -=0.225/9 (GENOME_DK)
              -=0.27685/165 (NorthernSweden)
              HGVS:

              7.

              rs1491259769 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                CG>- [Show Flanks]
                Chromosome:
                10:80202206 (GRCh38)
                10:81961962 (GRCh37)
                Canonical SPDI:
                NC_000010.11:80202204:GCG:G
                Gene:
                ANXA11 (Varview)
                Functional Consequence:
                genic_upstream_transcript_variant,intron_variant
                Validated:
                by frequency,by cluster
                MAF:
                -=0.0218/81 (TWINSUK)
                -=0.0244/94 (ALSPAC)
                HGVS:

                8.

                rs1491177019 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  CA>- [Show Flanks]
                  Chromosome:
                  10:80203044 (GRCh38)
                  10:81962800 (GRCh37)
                  Canonical SPDI:
                  NC_000010.11:80203043:CA:
                  Gene:
                  ANXA11 (Varview)
                  Functional Consequence:
                  genic_upstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  -=0./0 (ALFA)
                  HGVS:

                  9.

                  rs1491167726 has merged into rs71482767 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    TTTTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT [Show Flanks]
                    Chromosome:
                    10:80199106 (GRCh38)
                    10:81958862 (GRCh37)
                    Canonical SPDI:
                    NC_000010.11:80199095:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000010.11:80199095:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000010.11:80199095:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000010.11:80199095:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000010.11:80199095:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000010.11:80199095:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000010.11:80199095:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000010.11:80199095:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000010.11:80199095:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000010.11:80199095:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80199095:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80199095:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80199095:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80199095:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
                    Gene:
                    ANXA11 (Varview)
                    Functional Consequence:
                    intron_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    TTTTTTTTTTT=0./0 (ALFA)
                    -=0.000008/2 (TOPMED)
                    -=0.051667/31 (NorthernSweden)
                    -=0.4/16 (GENOME_DK)
                    HGVS:
                    NC_000010.11:g.80199106_80199114del, NC_000010.11:g.80199107_80199114del, NC_000010.11:g.80199109_80199114del, NC_000010.11:g.80199110_80199114del, NC_000010.11:g.80199111_80199114del, NC_000010.11:g.80199112_80199114del, NC_000010.11:g.80199113_80199114del, NC_000010.11:g.80199114del, NC_000010.11:g.80199114dup, NC_000010.11:g.80199113_80199114dup, NC_000010.11:g.80199112_80199114dup, NC_000010.11:g.80199111_80199114dup, NC_000010.11:g.80199110_80199114dup, NC_000010.11:g.80199109_80199114dup, NC_000010.10:g.81958862_81958870del, NC_000010.10:g.81958863_81958870del, NC_000010.10:g.81958865_81958870del, NC_000010.10:g.81958866_81958870del, NC_000010.10:g.81958867_81958870del, NC_000010.10:g.81958868_81958870del, NC_000010.10:g.81958869_81958870del, NC_000010.10:g.81958870del, NC_000010.10:g.81958870dup, NC_000010.10:g.81958869_81958870dup, NC_000010.10:g.81958868_81958870dup, NC_000010.10:g.81958867_81958870dup, NC_000010.10:g.81958866_81958870dup, NC_000010.10:g.81958865_81958870dup

                    10.

                    rs1491099335 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      AT>- [Show Flanks]
                      Chromosome:
                      10:80184209 (GRCh38)
                      10:81943965 (GRCh37)
                      Canonical SPDI:
                      NC_000010.11:80184206:ATAT:AT
                      Gene:
                      ANXA11 (Varview)
                      Functional Consequence:
                      genic_upstream_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      ATAT=0.000071/1 (ALFA)
                      -=0.000011/3 (TOPMED)
                      -=0.000014/2 (GnomAD)
                      HGVS:

                      11.

                      rs1490905998 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        10:80181919 (GRCh38)
                        10:81941675 (GRCh37)
                        Canonical SPDI:
                        NC_000010.11:80181918:G:A
                        Gene:
                        ANXA11 (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        HGVS:

                        12.

                        rs1490897246 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          10:80195659 (GRCh38)
                          10:81955415 (GRCh37)
                          Canonical SPDI:
                          NC_000010.11:80195658:A:G
                          Gene:
                          ANXA11 (Varview)
                          Functional Consequence:
                          genic_upstream_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000021/3 (GnomAD)
                          G=0.000045/12 (TOPMED)
                          HGVS:

                          13.

                          rs1490829124 [Homo sapiens]
                            Variant type:
                            DEL
                            Alleles:
                            CGC>- [Show Flanks]
                            Chromosome:
                            10:80190516 (GRCh38)
                            10:81950272 (GRCh37)
                            Canonical SPDI:
                            NC_000010.11:80190515:CGC:
                            Gene:
                            ANXA11 (Varview)
                            Functional Consequence:
                            genic_upstream_transcript_variant,intron_variant
                            Validated:
                            by frequency
                            MAF:
                            -=0.000015/2 (GnomAD)
                            HGVS:

                            14.

                            rs1490789683 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>T [Show Flanks]
                              Chromosome:
                              10:80203390 (GRCh38)
                              10:81963146 (GRCh37)
                              Canonical SPDI:
                              NC_000010.11:80203389:G:T
                              Gene:
                              ANXA11 (Varview)
                              Functional Consequence:
                              genic_upstream_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              HGVS:

                              15.

                              rs1490685177 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                T>- [Show Flanks]
                                Chromosome:
                                10:80173519 (GRCh38)
                                10:81933275 (GRCh37)
                                Canonical SPDI:
                                NC_000010.11:80173518:TTT:TT
                                Gene:
                                ANXA11 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                TT=0./0 (ALFA)
                                -=0.000004/1 (TOPMED)
                                HGVS:

                                16.

                                rs1490664671 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  10:80189599 (GRCh38)
                                  10:81949355 (GRCh37)
                                  Canonical SPDI:
                                  NC_000010.11:80189598:C:T
                                  Gene:
                                  ANXA11 (Varview)
                                  Functional Consequence:
                                  genic_upstream_transcript_variant,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:

                                  17.

                                  rs1490629361 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A,T [Show Flanks]
                                    Chromosome:
                                    10:80187489 (GRCh38)
                                    10:81947245 (GRCh37)
                                    Canonical SPDI:
                                    NC_000010.11:80187488:C:A,NC_000010.11:80187488:C:T
                                    Gene:
                                    ANXA11 (Varview)
                                    Functional Consequence:
                                    genic_upstream_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000036/5 (GnomAD)
                                    T=0.000042/11 (TOPMED)
                                    HGVS:

                                    18.

                                    rs1490608632 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A [Show Flanks]
                                      Chromosome:
                                      10:80167160 (GRCh38)
                                      10:81926916 (GRCh37)
                                      Canonical SPDI:
                                      NC_000010.11:80167159:C:A
                                      Gene:
                                      ANXA11 (Varview)
                                      Functional Consequence:
                                      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:

                                      19.

                                      rs1490593255 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A [Show Flanks]
                                        Chromosome:
                                        10:80204408 (GRCh38)
                                        10:81964164 (GRCh37)
                                        Canonical SPDI:
                                        NC_000010.11:80204407:C:A
                                        Gene:
                                        ANXA11 (Varview)
                                        Functional Consequence:
                                        genic_upstream_transcript_variant,5_prime_UTR_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000019/5 (TOPMED)
                                        A=0.000021/3 (GnomAD)
                                        HGVS:

                                        20.

                                        rs1490430242 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A,T [Show Flanks]
                                          Chromosome:
                                          10:80174569 (GRCh38)
                                          10:81934325 (GRCh37)
                                          Canonical SPDI:
                                          NC_000010.11:80174568:G:A,NC_000010.11:80174568:G:T
                                          Gene:
                                          ANXA11 (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          A=0.000022/3 (GnomAD)
                                          HGVS:

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