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Items: 1 to 20 of 14593

1.

rs1491491693 has merged into rs143600450 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AA>-,A,AAA,AAAA [Show Flanks]
    Chromosome:
    5:102640927 (GRCh38)
    5:101976631 (GRCh37)
    Canonical SPDI:
    NC_000005.10:102640919:AAAAAAAAA:AAAAAAA,NC_000005.10:102640919:AAAAAAAAA:AAAAAAAA,NC_000005.10:102640919:AAAAAAAAA:AAAAAAAAAA,NC_000005.10:102640919:AAAAAAAAA:AAAAAAAAAAA
    Gene:
    LINC00491 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AAAAAAAAAAA=0./0 (ALFA)
    -=0.11334/463 (1000Genomes)
    A=0.13974/256 (Korea1K)
    A=0.25917/961 (TWINSUK)
    A=0.26855/1035 (ALSPAC)
    A=0.285/171 (NorthernSweden)
    A=0.35/14 (GENOME_DK)
    HGVS:
    2.

    rs1491478240 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      CA>- [Show Flanks]
      Chromosome:
      5:102647686 (GRCh38)
      5:101983390 (GRCh37)
      Canonical SPDI:
      NC_000005.10:102647685:CA:
      Gene:
      LINC00491 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      -=0.00008/1 (ALFA)
      HGVS:
      3.

      rs1491318681 has merged into rs3072295 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        AAAAAAAA>-,A,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
        Chromosome:
        5:102647694 (GRCh38)
        5:101983398 (GRCh37)
        Canonical SPDI:
        NC_000005.10:102647686:AAAAAAAAAAAAAAA:AAAAAAA,NC_000005.10:102647686:AAAAAAAAAAAAAAA:AAAAAAAA,NC_000005.10:102647686:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:102647686:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:102647686:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:102647686:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:102647686:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:102647686:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:102647686:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:102647686:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:102647686:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:102647686:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:102647686:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
        Gene:
        LINC00491 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        AAAAAAA=0./0 (ALFA)
        A=0.4808/2408 (1000Genomes)
        HGVS:
        NC_000005.10:g.102647694_102647701del, NC_000005.10:g.102647695_102647701del, NC_000005.10:g.102647698_102647701del, NC_000005.10:g.102647699_102647701del, NC_000005.10:g.102647700_102647701del, NC_000005.10:g.102647701del, NC_000005.10:g.102647701dup, NC_000005.10:g.102647700_102647701dup, NC_000005.10:g.102647696_102647701dup, NC_000005.10:g.102647701_102647702insAAAAAAAAAAAAAAAA, NC_000005.10:g.102647701_102647702insAAAAAAAAAAAAAAAAA, NC_000005.10:g.102647701_102647702insAAAAAAAAAAAAAAAAAA, NC_000005.10:g.102647701_102647702insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.101983398_101983405del, NC_000005.9:g.101983399_101983405del, NC_000005.9:g.101983402_101983405del, NC_000005.9:g.101983403_101983405del, NC_000005.9:g.101983404_101983405del, NC_000005.9:g.101983405del, NC_000005.9:g.101983405dup, NC_000005.9:g.101983404_101983405dup, NC_000005.9:g.101983400_101983405dup, NC_000005.9:g.101983405_101983406insAAAAAAAAAAAAAAAA, NC_000005.9:g.101983405_101983406insAAAAAAAAAAAAAAAAA, NC_000005.9:g.101983405_101983406insAAAAAAAAAAAAAAAAAA, NC_000005.9:g.101983405_101983406insAAAAAAAAAAAAAAAAAAAAAAAAAA
        4.

        rs1491183773 [Homo sapiens]
          Variant type:
          INS
          Alleles:
          ->AAAG [Show Flanks]
          Chromosome:
          5:102669856 (GRCh38)
          5:102005561 (GRCh37)
          Canonical SPDI:
          NC_000005.10:102669856::AAAG
          Gene:
          LINC00491 (Varview), LOC105379104 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          AAAG=0./0 (ALFA)
          AAAG=0.000015/4 (TOPMED)
          AAAG=0.000028/3 (GnomAD)
          HGVS:
          5.

          rs1491154362 has merged into rs141913587 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            CT>-,CTCT,CTCTCT [Show Flanks]
            Chromosome:
            5:102623262 (GRCh38)
            5:101958966 (GRCh37)
            Canonical SPDI:
            NC_000005.10:102623250:TCTCTCTCTCTCT:TCTCTCTCTCT,NC_000005.10:102623250:TCTCTCTCTCTCT:TCTCTCTCTCTCTCT,NC_000005.10:102623250:TCTCTCTCTCTCT:TCTCTCTCTCTCTCTCT
            Gene:
            LINC00491 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            TCTCTCTCTCTCTCT=0.0181/310 (ALFA)
            TC=0.00655/110 (TOMMO)
            TC=0.01255/23 (Korea1K)
            TC=0.02705/27 (GoNL)
            TC=0.03241/7 (Vietnamese)
            TC=0.05/30 (NorthernSweden)
            TC=0.05045/226 (Estonian)
            TC=0.07823/392 (1000Genomes)
            HGVS:
            6.

            rs1491079797 has merged into rs3072294 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              AA>-,A,AAA,AAAA,AAAAA,AAAAAA [Show Flanks]
              Chromosome:
              5:102645842 (GRCh38)
              5:101981546 (GRCh37)
              Canonical SPDI:
              NC_000005.10:102645832:AAAAAAAAAAA:AAAAAAAAA,NC_000005.10:102645832:AAAAAAAAAAA:AAAAAAAAAA,NC_000005.10:102645832:AAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:102645832:AAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:102645832:AAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:102645832:AAAAAAAAAAA:AAAAAAAAAAAAAAA
              Gene:
              LINC00491 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              AAAAAAAAAAAAAAA=0./0 (ALFA)
              -=0.3558/950 (1000Genomes)
              HGVS:
              7.

              rs1491047855 has merged into rs33941393 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                TTTTTTTTTTT>-,TTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT [Show Flanks]
                Chromosome:
                5:102669452 (GRCh38)
                5:102005156 (GRCh37)
                Canonical SPDI:
                NC_000005.10:102669445:TTTTTTTTTTTTTTTTT:TTTTTT,NC_000005.10:102669445:TTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000005.10:102669445:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:102669445:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:102669445:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:102669445:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:102669445:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:102669445:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:102669445:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:102669445:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:102669445:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
                Gene:
                LINC00491 (Varview), LOC105379104 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                TTTTTTTTTTTTTTT=0./0 (ALFA)
                -=0.000004/1 (TOPMED)
                HGVS:
                NC_000005.10:g.102669452_102669462del, NC_000005.10:g.102669455_102669462del, NC_000005.10:g.102669460_102669462del, NC_000005.10:g.102669461_102669462del, NC_000005.10:g.102669462del, NC_000005.10:g.102669462dup, NC_000005.10:g.102669461_102669462dup, NC_000005.10:g.102669460_102669462dup, NC_000005.10:g.102669459_102669462dup, NC_000005.10:g.102669458_102669462dup, NC_000005.10:g.102669457_102669462dup, NC_000005.9:g.102005156_102005166del, NC_000005.9:g.102005159_102005166del, NC_000005.9:g.102005164_102005166del, NC_000005.9:g.102005165_102005166del, NC_000005.9:g.102005166del, NC_000005.9:g.102005166dup, NC_000005.9:g.102005165_102005166dup, NC_000005.9:g.102005164_102005166dup, NC_000005.9:g.102005163_102005166dup, NC_000005.9:g.102005162_102005166dup, NC_000005.9:g.102005161_102005166dup
                8.

                rs1491010346 has merged into rs141596538 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  AAAAAAAAAAAAA>-,A,AA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                  Chromosome:
                  5:102635427 (GRCh38)
                  5:101971131 (GRCh37)
                  Canonical SPDI:
                  NC_000005.10:102635418:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000005.10:102635418:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000005.10:102635418:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000005.10:102635418:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:102635418:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:102635418:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:102635418:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:102635418:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:102635418:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:102635418:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:102635418:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:102635418:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:102635418:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:102635418:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:102635418:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:102635418:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                  Gene:
                  LINC00491 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  AAAAAAAAA=0./0 (ALFA)
                  -=0.000004/1 (TOPMED)
                  HGVS:
                  NC_000005.10:g.102635427_102635439del, NC_000005.10:g.102635428_102635439del, NC_000005.10:g.102635429_102635439del, NC_000005.10:g.102635433_102635439del, NC_000005.10:g.102635434_102635439del, NC_000005.10:g.102635436_102635439del, NC_000005.10:g.102635437_102635439del, NC_000005.10:g.102635438_102635439del, NC_000005.10:g.102635439del, NC_000005.10:g.102635439dup, NC_000005.10:g.102635438_102635439dup, NC_000005.10:g.102635437_102635439dup, NC_000005.10:g.102635436_102635439dup, NC_000005.10:g.102635435_102635439dup, NC_000005.10:g.102635433_102635439dup, NC_000005.10:g.102635432_102635439dup, NC_000005.9:g.101971131_101971143del, NC_000005.9:g.101971132_101971143del, NC_000005.9:g.101971133_101971143del, NC_000005.9:g.101971137_101971143del, NC_000005.9:g.101971138_101971143del, NC_000005.9:g.101971140_101971143del, NC_000005.9:g.101971141_101971143del, NC_000005.9:g.101971142_101971143del, NC_000005.9:g.101971143del, NC_000005.9:g.101971143dup, NC_000005.9:g.101971142_101971143dup, NC_000005.9:g.101971141_101971143dup, NC_000005.9:g.101971140_101971143dup, NC_000005.9:g.101971139_101971143dup, NC_000005.9:g.101971137_101971143dup, NC_000005.9:g.101971136_101971143dup
                  9.

                  rs1490972350 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    5:102624909 (GRCh38)
                    5:101960613 (GRCh37)
                    Canonical SPDI:
                    NC_000005.10:102624908:T:C
                    Gene:
                    LINC00491 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1490795113 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      5:102651552 (GRCh38)
                      5:101987256 (GRCh37)
                      Canonical SPDI:
                      NC_000005.10:102651551:G:A
                      Gene:
                      LINC00491 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1490748837 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        5:102659976 (GRCh38)
                        5:101995680 (GRCh37)
                        Canonical SPDI:
                        NC_000005.10:102659975:T:C
                        Gene:
                        LINC00491 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0.000142/2 (ALFA)
                        C=0.000007/1 (GnomAD)
                        C=0.000008/2 (TOPMED)
                        HGVS:
                        12.

                        rs1490735393 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A [Show Flanks]
                          Chromosome:
                          5:102667601 (GRCh38)
                          5:102003305 (GRCh37)
                          Canonical SPDI:
                          NC_000005.10:102667600:C:A
                          Gene:
                          LINC00491 (Varview), LOC105379104 (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:
                          13.

                          rs1490664006 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            5:102666338 (GRCh38)
                            5:102002042 (GRCh37)
                            Canonical SPDI:
                            NC_000005.10:102666337:T:C
                            Gene:
                            LINC00491 (Varview), LOC105379104 (Varview)
                            Functional Consequence:
                            intron_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000008/2 (TOPMED)
                            HGVS:
                            14.

                            rs1490586561 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              5:102658872 (GRCh38)
                              5:101994576 (GRCh37)
                              Canonical SPDI:
                              NC_000005.10:102658871:T:C
                              Gene:
                              LINC00491 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1490535721 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>C [Show Flanks]
                                Chromosome:
                                5:102656755 (GRCh38)
                                5:101992459 (GRCh37)
                                Canonical SPDI:
                                NC_000005.10:102656754:A:C
                                Gene:
                                LINC00491 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (TOPMED)
                                C=0.000014/2 (GnomAD)
                                HGVS:
                                16.

                                rs1490508453 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  5:102672610 (GRCh38)
                                  5:102008314 (GRCh37)
                                  Canonical SPDI:
                                  NC_000005.10:102672609:T:C
                                  Gene:
                                  LINC00491 (Varview), LOC105379104 (Varview)
                                  Functional Consequence:
                                  intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000035/1 (TOMMO)
                                  C=0.000036/5 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1490460785 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    5:102642286 (GRCh38)
                                    5:101977990 (GRCh37)
                                    Canonical SPDI:
                                    NC_000005.10:102642285:G:A
                                    Gene:
                                    LINC00491 (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:
                                    18.

                                    rs1490446135 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>T [Show Flanks]
                                      Chromosome:
                                      5:102628640 (GRCh38)
                                      5:101964344 (GRCh37)
                                      Canonical SPDI:
                                      NC_000005.10:102628639:A:T
                                      Gene:
                                      LINC00491 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000011/3 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1490438736 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        5:102641185 (GRCh38)
                                        5:101976889 (GRCh37)
                                        Canonical SPDI:
                                        NC_000005.10:102641184:G:A
                                        Gene:
                                        LINC00491 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000021/3 (GnomAD)
                                        A=0.000023/6 (TOPMED)
                                        A=0.001667/1 (NorthernSweden)
                                        G=0.5/1 (SGDP_PRJ)
                                        HGVS:
                                        20.

                                        rs1490423660 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G,T [Show Flanks]
                                          Chromosome:
                                          5:102643539 (GRCh38)
                                          5:101979243 (GRCh37)
                                          Canonical SPDI:
                                          NC_000005.10:102643538:C:G,NC_000005.10:102643538:C:T
                                          Gene:
                                          LINC00491 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          T=0.000007/1 (GnomAD)
                                          HGVS:

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