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Items: 1 to 20 of 962

1.

rs1491040422 has merged into rs386373060 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TTTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
    Chromosome:
    11:9096157 (GRCh38)
    11:9117704 (GRCh37)
    Canonical SPDI:
    NC_000011.10:9096146:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000011.10:9096146:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000011.10:9096146:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:9096146:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:9096146:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:9096146:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:9096146:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:9096146:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000011.10:9096146:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000011.10:9096146:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000011.10:9096146:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:9096146:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
    Gene:
    KRT8P41 (Varview)
    Functional Consequence:
    non_coding_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTTTTTTTTT=0./0 (ALFA)
    -=0.1939/971 (1000Genomes)
    HGVS:
    NC_000011.10:g.9096157_9096164del, NC_000011.10:g.9096158_9096164del, NC_000011.10:g.9096160_9096164del, NC_000011.10:g.9096161_9096164del, NC_000011.10:g.9096162_9096164del, NC_000011.10:g.9096163_9096164del, NC_000011.10:g.9096164del, NC_000011.10:g.9096164dup, NC_000011.10:g.9096163_9096164dup, NC_000011.10:g.9096162_9096164dup, NC_000011.10:g.9096161_9096164dup, NC_000011.10:g.9096164_9096165insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.9117704_9117711del, NC_000011.9:g.9117705_9117711del, NC_000011.9:g.9117707_9117711del, NC_000011.9:g.9117708_9117711del, NC_000011.9:g.9117709_9117711del, NC_000011.9:g.9117710_9117711del, NC_000011.9:g.9117711del, NC_000011.9:g.9117711dup, NC_000011.9:g.9117710_9117711dup, NC_000011.9:g.9117709_9117711dup, NC_000011.9:g.9117708_9117711dup, NC_000011.9:g.9117711_9117712insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NR_027713.1:n.1795_1802del, NR_027713.1:n.1796_1802del, NR_027713.1:n.1798_1802del, NR_027713.1:n.1799_1802del, NR_027713.1:n.1800_1802del, NR_027713.1:n.1801_1802del, NR_027713.1:n.1802del, NR_027713.1:n.1802dup, NR_027713.1:n.1801_1802dup, NR_027713.1:n.1800_1802dup, NR_027713.1:n.1799_1802dup, NR_027713.1:n.1802_1803insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_198473.1:c.*471_*473dup, NM_198473.1:c.*469_*473del, NM_198473.1:c.*470_*473del, NM_198473.1:c.*472_*473del, NM_198473.1:c.*473del, NM_198473.1:c.*473dup, NM_198473.1:c.*472_*473dup, NM_198473.1:c.*470_*473dup, NM_198473.1:c.*469_*473dup, NM_198473.1:c.*468_*473dup, NM_198473.1:c.*467_*473dup, NM_198473.1:c.*473_*474insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
    2.

    rs1490242197 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      11:9096442 (GRCh38)
      11:9117989 (GRCh37)
      Canonical SPDI:
      NC_000011.10:9096441:T:C
      Gene:
      KRT8P41 (Varview)
      Functional Consequence:
      downstream_transcript_variant,500B_downstream_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000015/4 (TOPMED)
      C=0.000021/3 (GnomAD)
      HGVS:
      3.

      rs1489934036 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        11:9092445 (GRCh38)
        11:9113992 (GRCh37)
        Canonical SPDI:
        NC_000011.10:9092444:G:A
        Gene:
        SCUBE2 (Varview), KRT8P41 (Varview)
        Functional Consequence:
        2KB_upstream_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        A=0.0002/1 (ALFA)
        A=0.0002/1 (Estonian)
        HGVS:
        4.

        rs1489511353 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          11:9096638 (GRCh38)
          11:9118185 (GRCh37)
          Canonical SPDI:
          NC_000011.10:9096637:C:T
          Gene:
          KRT8P41 (Varview)
          Functional Consequence:
          downstream_transcript_variant,500B_downstream_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000021/3 (GnomAD)
          T=0.000035/1 (TOMMO)
          T=0.000038/10 (TOPMED)
          HGVS:
          5.

          rs1489459091 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G,T [Show Flanks]
            Chromosome:
            11:9094422 (GRCh38)
            11:9115969 (GRCh37)
            Canonical SPDI:
            NC_000011.10:9094421:C:G,NC_000011.10:9094421:C:T
            Gene:
            KRT8P41 (Varview)
            Functional Consequence:
            non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000011/3 (TOPMED)
            HGVS:
            6.

            rs1489405637 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              11:9095493 (GRCh38)
              11:9117040 (GRCh37)
              Canonical SPDI:
              NC_000011.10:9095492:T:C
              Gene:
              KRT8P41 (Varview)
              Functional Consequence:
              non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000014/2 (GnomAD)
              C=0.000019/5 (TOPMED)
              C=0.000106/2 (TOMMO)
              C=0.000342/1 (KOREAN)
              C=0.000546/1 (Korea1K)
              HGVS:
              7.

              rs1489285249 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                11:9092470 (GRCh38)
                11:9114017 (GRCh37)
                Canonical SPDI:
                NC_000011.10:9092469:A:G
                Gene:
                SCUBE2 (Varview), KRT8P41 (Varview)
                Functional Consequence:
                2KB_upstream_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0./0 (ALFA)
                HGVS:
                8.

                rs1488829646 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  11:9096317 (GRCh38)
                  11:9117864 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:9096316:C:T
                  Gene:
                  KRT8P41 (Varview)
                  Functional Consequence:
                  downstream_transcript_variant,500B_downstream_variant
                  HGVS:
                  9.

                  rs1488639655 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    A>- [Show Flanks]
                    Chromosome:
                    11:9095893 (GRCh38)
                    11:9117440 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:9095892:AAA:AA
                    Gene:
                    KRT8P41 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    AA=0./0 (ALFA)
                    -=0.000015/4 (TOPMED)
                    -=0.000021/3 (GnomAD)
                    HGVS:
                    10.

                    rs1487441557 [Homo sapiens]
                      Variant type:
                      DEL
                      Alleles:
                      C>- [Show Flanks]
                      Chromosome:
                      11:9094570 (GRCh38)
                      11:9116117 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:9094569:C:
                      Gene:
                      KRT8P41 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      -=0./0 (ALFA)
                      -=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1487167947 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        11:9095466 (GRCh38)
                        11:9117013 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:9095465:G:A
                        Gene:
                        KRT8P41 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0.000071/1 (ALFA)
                        A=0.000004/1 (TOPMED)
                        A=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1487137718 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          TC>- [Show Flanks]
                          Chromosome:
                          11:9094099 (GRCh38)
                          11:9115646 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:9094096:TCTC:TC
                          Gene:
                          KRT8P41 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          TCTC=0.000071/1 (ALFA)
                          -=0.000068/18 (TOPMED)
                          HGVS:
                          13.

                          rs1487087014 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            11:9095181 (GRCh38)
                            11:9116728 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:9095180:G:A
                            Gene:
                            KRT8P41 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000004/1 (TOPMED)
                            A=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1486682398 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              11:9095083 (GRCh38)
                              11:9116630 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:9095082:G:A
                              Gene:
                              KRT8P41 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0.000071/1 (ALFA)
                              A=0.000007/1 (GnomAD)
                              A=0.000011/3 (TOPMED)
                              HGVS:
                              15.

                              rs1483576862 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                11:9092366 (GRCh38)
                                11:9113913 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:9092365:C:T
                                Gene:
                                SCUBE2 (Varview), KRT8P41 (Varview), MIR5691 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000007/1 (GnomAD)
                                T=0.000008/2 (TOPMED)
                                HGVS:
                                16.

                                rs1482371334 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C,G [Show Flanks]
                                  Chromosome:
                                  11:9093859 (GRCh38)
                                  11:9115406 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:9093858:T:C,NC_000011.10:9093858:T:G
                                  Gene:
                                  KRT8P41 (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0./0 (KOREAN)
                                  C=0.000007/1 (GnomAD)
                                  C=0.000008/2 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1480520318 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    11:9092478 (GRCh38)
                                    11:9114025 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:9092477:C:T
                                    Gene:
                                    SCUBE2 (Varview), KRT8P41 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1480045685 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      11:9095497 (GRCh38)
                                      11:9117044 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:9095496:G:A
                                      Gene:
                                      KRT8P41 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0.000224/1 (ALFA)
                                      A=0.000014/2 (GnomAD)
                                      A=0.000223/1 (Estonian)
                                      HGVS:
                                      19.

                                      rs1479052099 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        11:9096433 (GRCh38)
                                        11:9117980 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:9096432:C:T
                                        Gene:
                                        KRT8P41 (Varview)
                                        Functional Consequence:
                                        downstream_transcript_variant,500B_downstream_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0.000071/1 (ALFA)
                                        T=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1478637033 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          11:9096089 (GRCh38)
                                          11:9117636 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:9096088:A:G
                                          Gene:
                                          KRT8P41 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000007/1 (GnomAD)
                                          G=0.000011/3 (TOPMED)
                                          HGVS:

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