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Items: 1 to 20 of 26837

1.

rs1491555220 has merged into rs1554299354 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TT>-,TTT,TTTT [Show Flanks]
    Chromosome:
    6:158534458 (GRCh38)
    6:158955490 (GRCh37)
    Canonical SPDI:
    NC_000006.12:158534454:TTTTT:TTT,NC_000006.12:158534454:TTTTT:TTTTTT,NC_000006.12:158534454:TTTTT:TTTTTTT
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTTTT=0./0 (ALFA)
    -=0.00071/12 (TOMMO)
    HGVS:
    2.

    rs1491551305 has merged into rs368216274 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      AAAAAAAAAAA>-,A,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA [Show Flanks]
      Chromosome:
      6:158550903 (GRCh38)
      6:158971935 (GRCh37)
      Canonical SPDI:
      NC_000006.12:158550892:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000006.12:158550892:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:158550892:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:158550892:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:158550892:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:158550892:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:158550892:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:158550892:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:158550892:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:158550892:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:158550892:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:158550892:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:158550892:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:158550892:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:158550892:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
      Gene:
      TMEM181 (Varview)
      Functional Consequence:
      intron_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      AAAAAAAAAA=0./0 (ALFA)
      HGVS:
      NC_000006.12:g.158550903_158550913del, NC_000006.12:g.158550904_158550913del, NC_000006.12:g.158550908_158550913del, NC_000006.12:g.158550909_158550913del, NC_000006.12:g.158550910_158550913del, NC_000006.12:g.158550911_158550913del, NC_000006.12:g.158550912_158550913del, NC_000006.12:g.158550913del, NC_000006.12:g.158550913dup, NC_000006.12:g.158550912_158550913dup, NC_000006.12:g.158550911_158550913dup, NC_000006.12:g.158550910_158550913dup, NC_000006.12:g.158550907_158550913dup, NC_000006.12:g.158550905_158550913dup, NC_000006.12:g.158550904_158550913dup, NC_000006.11:g.158971935_158971945del, NC_000006.11:g.158971936_158971945del, NC_000006.11:g.158971940_158971945del, NC_000006.11:g.158971941_158971945del, NC_000006.11:g.158971942_158971945del, NC_000006.11:g.158971943_158971945del, NC_000006.11:g.158971944_158971945del, NC_000006.11:g.158971945del, NC_000006.11:g.158971945dup, NC_000006.11:g.158971944_158971945dup, NC_000006.11:g.158971943_158971945dup, NC_000006.11:g.158971942_158971945dup, NC_000006.11:g.158971939_158971945dup, NC_000006.11:g.158971937_158971945dup, NC_000006.11:g.158971936_158971945dup
      3.

      rs1491466572 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->AA [Show Flanks]
        Chromosome:
        6:158626919 (GRCh38)
        6:159047952 (GRCh37)
        Canonical SPDI:
        NC_000006.12:158626919:A:AAA
        Gene:
        TMEM181 (Varview)
        Functional Consequence:
        intron_variant,genic_downstream_transcript_variant
        Validated:
        by frequency
        MAF:
        AA=0.00043/10 (TOMMO)
        HGVS:
        4.

        rs1491367829 has merged into rs575576602 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          AT>-,ATATATATAT [Show Flanks]
          Chromosome:
          6:158605160 (GRCh38)
          6:159026192 (GRCh37)
          Canonical SPDI:
          NC_000006.12:158605158:TAT:T,NC_000006.12:158605158:TAT:TATATATATAT
          Gene:
          TMEM181 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          -=0.000038/5 (GnomAD)
          HGVS:
          5.

          rs1491365320 has merged into rs34148643 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
            Chromosome:
            6:158547899 (GRCh38)
            6:158968931 (GRCh37)
            Canonical SPDI:
            NC_000006.12:158547887:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:158547887:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:158547887:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:158547887:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:158547887:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:158547887:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:158547887:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:158547887:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:158547887:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:158547887:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:158547887:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:158547887:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:158547887:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:158547887:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:158547887:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:158547887:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:158547887:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:158547887:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:158547887:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
            Gene:
            TMEM181 (Varview)
            Functional Consequence:
            genic_upstream_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            AAAAAAAAAAA=0./0 (ALFA)
            -=0.225/9 (GENOME_DK)
            HGVS:
            NC_000006.12:g.158547899_158547913del, NC_000006.12:g.158547900_158547913del, NC_000006.12:g.158547901_158547913del, NC_000006.12:g.158547902_158547913del, NC_000006.12:g.158547903_158547913del, NC_000006.12:g.158547904_158547913del, NC_000006.12:g.158547905_158547913del, NC_000006.12:g.158547906_158547913del, NC_000006.12:g.158547907_158547913del, NC_000006.12:g.158547908_158547913del, NC_000006.12:g.158547909_158547913del, NC_000006.12:g.158547910_158547913del, NC_000006.12:g.158547911_158547913del, NC_000006.12:g.158547912_158547913del, NC_000006.12:g.158547913del, NC_000006.12:g.158547913dup, NC_000006.12:g.158547912_158547913dup, NC_000006.12:g.158547911_158547913dup, NC_000006.12:g.158547909_158547913dup, NC_000006.11:g.158968931_158968945del, NC_000006.11:g.158968932_158968945del, NC_000006.11:g.158968933_158968945del, NC_000006.11:g.158968934_158968945del, NC_000006.11:g.158968935_158968945del, NC_000006.11:g.158968936_158968945del, NC_000006.11:g.158968937_158968945del, NC_000006.11:g.158968938_158968945del, NC_000006.11:g.158968939_158968945del, NC_000006.11:g.158968940_158968945del, NC_000006.11:g.158968941_158968945del, NC_000006.11:g.158968942_158968945del, NC_000006.11:g.158968943_158968945del, NC_000006.11:g.158968944_158968945del, NC_000006.11:g.158968945del, NC_000006.11:g.158968945dup, NC_000006.11:g.158968944_158968945dup, NC_000006.11:g.158968943_158968945dup, NC_000006.11:g.158968941_158968945dup
            6.

            rs1491363438 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              AC>- [Show Flanks]
              Chromosome:
              6:158611985 (GRCh38)
              6:159033017 (GRCh37)
              Canonical SPDI:
              NC_000006.12:158611983:CAC:C
              Gene:
              TMEM181 (Varview)
              Functional Consequence:
              3_prime_UTR_variant,intron_variant
              Validated:
              by frequency,by cluster
              MAF:
              -=0.0113/42 (TWINSUK)
              -=0.0127/49 (ALSPAC)
              HGVS:
              7.

              rs1491350115 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                ->CATG [Show Flanks]
                Chromosome:
                6:158604336 (GRCh38)
                6:159025369 (GRCh37)
                Canonical SPDI:
                NC_000006.12:158604336:TG:TGCATG
                Gene:
                TMEM181 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                TGCATG=0./0 (ALFA)
                HGVS:
                8.

                rs1491332398 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  CA>- [Show Flanks]
                  Chromosome:
                  6:158547887 (GRCh38)
                  6:158968919 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:158547886:CA:
                  Gene:
                  TMEM181 (Varview)
                  Functional Consequence:
                  genic_upstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  -=0.00008/1 (ALFA)
                  -=0.00151/39 (TOMMO)
                  HGVS:
                  9.

                  rs1491325029 [Homo sapiens]
                    Variant type:
                    DEL
                    Alleles:
                    AT>- [Show Flanks]
                    Chromosome:
                    6:158571263 (GRCh38)
                    6:158992295 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:158571262:AT:
                    Gene:
                    TMEM181 (Varview)
                    Functional Consequence:
                    genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    -=0./0 (ALFA)
                    -=0.000004/1 (TOPMED)
                    HGVS:
                    10.

                    rs1491278222 [Homo sapiens]
                      Variant type:
                      DEL
                      Alleles:
                      GA>- [Show Flanks]
                      Chromosome:
                      6:158550892 (GRCh38)
                      6:158971924 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:158550891:GA:
                      Gene:
                      TMEM181 (Varview)
                      Functional Consequence:
                      genic_upstream_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      -=0.00826/98 (ALFA)
                      -=0.00113/32 (TOMMO)
                      -=0.00115/56 (GnomAD)
                      HGVS:
                      11.

                      rs1491272454 [Homo sapiens]
                        Variant type:
                        DEL
                        Alleles:
                        CA>- [Show Flanks]
                        Chromosome:
                        6:158626919 (GRCh38)
                        6:159047951 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:158626918:CA:
                        Gene:
                        TMEM181 (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        -=0./0 (ALFA)
                        -=0.000038/4 (GnomAD)
                        HGVS:
                        12.

                        rs1491251194 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          ->TACACCTT [Show Flanks]
                          Chromosome:
                          6:158627177 (GRCh38)
                          6:159048210 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:158627177:T:TTACACCTT
                          Gene:
                          TMEM181 (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          TTACACCTT=0./0 (ALFA)
                          HGVS:
                          13.

                          rs1491184860 [Homo sapiens]
                            Variant type:
                            DEL
                            Alleles:
                            CA>- [Show Flanks]
                            Chromosome:
                            6:158619867 (GRCh38)
                            6:159040899 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:158619866:CA:
                            Gene:
                            TMEM181 (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            -=0./0 (ALFA)
                            HGVS:
                            14.

                            rs1491154834 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              TA>- [Show Flanks]
                              Chromosome:
                              6:158593323 (GRCh38)
                              6:159014355 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:158593320:TATA:TA
                              Gene:
                              TMEM181 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              TATA=0./0 (ALFA)
                              -=0.000008/2 (TOPMED)
                              HGVS:
                              15.

                              rs1491154451 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                ->T [Show Flanks]
                                Chromosome:
                                6:158571263 (GRCh38)
                                6:158992296 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:158571263:TTTTTT:TTTTTTT
                                Gene:
                                TMEM181 (Varview)
                                Functional Consequence:
                                genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                TTTTTTT=0./0 (ALFA)
                                T=0.000004/1 (TOPMED)
                                T=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1491148053 [Homo sapiens]
                                  Variant type:
                                  DEL
                                  Alleles:
                                  CA>- [Show Flanks]
                                  Chromosome:
                                  6:158577061 (GRCh38)
                                  6:158998093 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:158577060:CA:
                                  Gene:
                                  TMEM181 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  -=0./0 (ALFA)
                                  -=0.00054/2 (TWINSUK)
                                  -=0.00259/10 (ALSPAC)
                                  HGVS:
                                  17.

                                  rs1491138549 has merged into rs57907555 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    TTT>-,T,TT,TTTT,TTTTT,TTTTTT [Show Flanks]
                                    Chromosome:
                                    6:158569611 (GRCh38)
                                    6:158990643 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:158569597:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:158569597:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:158569597:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:158569597:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:158569597:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:158569597:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
                                    Gene:
                                    TMEM181 (Varview)
                                    Functional Consequence:
                                    genic_upstream_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    TTTTTTTTTTTTTTT=0./0 (ALFA)
                                    -=0.08327/417 (1000Genomes)
                                    T=0.15/6 (GENOME_DK)
                                    HGVS:
                                    18.

                                    rs1491108411 [Homo sapiens]
                                      Variant type:
                                      DEL
                                      Alleles:
                                      TT>- [Show Flanks]
                                      Chromosome:
                                      6:158562477 (GRCh38)
                                      6:158983509 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:158562476:TT:
                                      Gene:
                                      TMEM181 (Varview)
                                      Functional Consequence:
                                      genic_upstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      -=0.074444/1132 (ALFA)
                                      -=0.020317/340 (TOMMO)
                                      -=0.045/27 (NorthernSweden)
                                      -=0.060044/110 (Korea1K)
                                      -=0.077716/8995 (GnomAD)
                                      -=0.285571/285 (GoNL)
                                      HGVS:
                                      19.

                                      rs1491107983 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        CT>- [Show Flanks]
                                        Chromosome:
                                        6:158594121 (GRCh38)
                                        6:159015153 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:158594119:TCT:T
                                        Gene:
                                        TMEM181 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0.00017/2 (ALFA)
                                        HGVS:
                                        20.

                                        rs1491062547 [Homo sapiens]
                                          Variant type:
                                          DEL
                                          Alleles:
                                          AG>- [Show Flanks]
                                          Chromosome:
                                          6:158619889 (GRCh38)
                                          6:159040921 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:158619888:AG:
                                          Gene:
                                          TMEM181 (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          -=0./0 (ALFA)
                                          -=0.00015/14 (GnomAD)
                                          HGVS:

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