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Items: 1 to 20 of 626

1.

rs1491027462 has merged into rs527397877 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AAAAAAAA>-,AAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA [Show Flanks]
    Chromosome:
    14:31014823 (GRCh38)
    14:31484029 (GRCh37)
    Canonical SPDI:
    NC_000014.9:31014813:AAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000014.9:31014813:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:31014813:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:31014813:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:31014813:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000014.9:31014813:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:31014813:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
    Gene:
    STRN3 (Varview), MIR624 (Varview)
    Functional Consequence:
    upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AAAAAAAAAAAAA=0./0 (ALFA)
    -=0.125/5 (GENOME_DK)
    HGVS:
    2.

    rs1489784341 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      14:31015819 (GRCh38)
      14:31485025 (GRCh37)
      Canonical SPDI:
      NC_000014.9:31015818:G:A
      Gene:
      STRN3 (Varview), MIR624 (Varview)
      Functional Consequence:
      genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_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:
      3.

      rs1488108335 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        14:31015944 (GRCh38)
        14:31485150 (GRCh37)
        Canonical SPDI:
        NC_000014.9:31015943:G:A
        Gene:
        STRN3 (Varview), MIR624 (Varview)
        Functional Consequence:
        genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000014/2 (GnomAD)
        A=0.000015/4 (TOPMED)
        HGVS:
        4.

        rs1487974130 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          14:31014972 (GRCh38)
          14:31484178 (GRCh37)
          Canonical SPDI:
          NC_000014.9:31014971:C:T
          Gene:
          STRN3 (Varview), MIR624 (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000004/1 (TOPMED)
          T=0.000342/1 (KOREAN)
          HGVS:
          5.

          rs1487840995 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            14:31016358 (GRCh38)
            14:31485564 (GRCh37)
            Canonical SPDI:
            NC_000014.9:31016357:G:A
            Gene:
            STRN3 (Varview), MIR624 (Varview)
            Functional Consequence:
            genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_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:
            6.

            rs1486469717 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A [Show Flanks]
              Chromosome:
              14:31015492 (GRCh38)
              14:31484698 (GRCh37)
              Canonical SPDI:
              NC_000014.9:31015491:C:A
              Gene:
              STRN3 (Varview), MIR624 (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000008/2 (TOPMED)
              A=0.000014/2 (GnomAD)
              HGVS:
              7.

              rs1485862649 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                14:31014191 (GRCh38)
                14:31483397 (GRCh37)
                Canonical SPDI:
                NC_000014.9:31014190:C:T
                Gene:
                STRN3 (Varview), MIR624 (Varview)
                Functional Consequence:
                genic_upstream_transcript_variant,intron_variant,500B_downstream_variant,downstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0./0 (ALFA)
                T=0.000011/3 (TOPMED)
                HGVS:
                8.

                rs1485036744 has merged into rs371021241 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  C>- [Show Flanks]
                  Chromosome:
                  14:31015059 (GRCh38)
                  14:31484265 (GRCh37)
                  Canonical SPDI:
                  NC_000014.9:31015058:CC:C
                  Gene:
                  STRN3 (Varview), MIR624 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  CC=0.000071/1 (ALFA)
                  -=0.000114/16 (GnomAD)
                  -=0.00014/37 (TOPMED)
                  -=0.000312/2 (1000Genomes)
                  HGVS:
                  9.

                  rs1483364780 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>C [Show Flanks]
                    Chromosome:
                    14:31014826 (GRCh38)
                    14:31484032 (GRCh37)
                    Canonical SPDI:
                    NC_000014.9:31014825:A:C
                    Gene:
                    STRN3 (Varview), MIR624 (Varview)
                    Functional Consequence:
                    genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0.000071/1 (ALFA)
                    C=0.000011/3 (TOPMED)
                    C=0.000014/2 (GnomAD)
                    HGVS:
                    10.

                    rs1477551209 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      14:31015430 (GRCh38)
                      14:31484636 (GRCh37)
                      Canonical SPDI:
                      NC_000014.9:31015429:T:C
                      Gene:
                      STRN3 (Varview), MIR624 (Varview)
                      Functional Consequence:
                      genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      HGVS:
                      11.

                      rs1477509779 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>T [Show Flanks]
                        Chromosome:
                        14:31016005 (GRCh38)
                        14:31485211 (GRCh37)
                        Canonical SPDI:
                        NC_000014.9:31016004:A:T
                        Gene:
                        STRN3 (Varview), MIR624 (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000008/2 (TOPMED)
                        A=0.5/1 (SGDP_PRJ)
                        HGVS:
                        12.

                        rs1476176331 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G,T [Show Flanks]
                          Chromosome:
                          14:31015945 (GRCh38)
                          14:31485151 (GRCh37)
                          Canonical SPDI:
                          NC_000014.9:31015944:C:G,NC_000014.9:31015944:C:T
                          Gene:
                          STRN3 (Varview), MIR624 (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0.000071/1 (ALFA)
                          T=0.000014/2 (GnomAD)
                          T=0.000239/4 (TOMMO)
                          HGVS:
                          13.

                          rs1475872229 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            14:31015575 (GRCh38)
                            14:31484781 (GRCh37)
                            Canonical SPDI:
                            NC_000014.9:31015574:G:A
                            Gene:
                            STRN3 (Varview), MIR624 (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000007/1 (GnomAD)
                            A=0.00003/8 (TOPMED)
                            HGVS:
                            14.

                            rs1475195036 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G [Show Flanks]
                              Chromosome:
                              14:31014839 (GRCh38)
                              14:31484045 (GRCh37)
                              Canonical SPDI:
                              NC_000014.9:31014838:C:G
                              Gene:
                              STRN3 (Varview), MIR624 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1472768209 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                14:31014675 (GRCh38)
                                14:31483881 (GRCh37)
                                Canonical SPDI:
                                NC_000014.9:31014674:T:C
                                Gene:
                                STRN3 (Varview), MIR624 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0.000028/1 (ALFA)
                                C=0.000004/1 (TOPMED)
                                C=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1470916319 [Homo sapiens]
                                  Variant type:
                                  INS
                                  Alleles:
                                  ->TACAC [Show Flanks]
                                  Chromosome:
                                  14:31014652 (GRCh38)
                                  14:31483859 (GRCh37)
                                  Canonical SPDI:
                                  NC_000014.9:31014652::TACAC
                                  Gene:
                                  STRN3 (Varview), MIR624 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  TACAC=0./0 (ALFA)
                                  TACAC=0.000014/2 (GnomAD)
                                  TACAC=0.000019/5 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1470076596 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A [Show Flanks]
                                    Chromosome:
                                    14:31014862 (GRCh38)
                                    14:31484068 (GRCh37)
                                    Canonical SPDI:
                                    NC_000014.9:31014861:C:A
                                    Gene:
                                    STRN3 (Varview), MIR624 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,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.

                                    rs1469633446 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      14:31015599 (GRCh38)
                                      14:31484805 (GRCh37)
                                      Canonical SPDI:
                                      NC_000014.9:31015598:C:T
                                      Gene:
                                      STRN3 (Varview), MIR624 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0.000071/1 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1466898771 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G [Show Flanks]
                                        Chromosome:
                                        14:31016668 (GRCh38)
                                        14:31485874 (GRCh37)
                                        Canonical SPDI:
                                        NC_000014.9:31016667:C:G
                                        Gene:
                                        STRN3 (Varview), MIR624 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (TOPMED)
                                        G=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1466131760 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A [Show Flanks]
                                          Chromosome:
                                          14:31015561 (GRCh38)
                                          14:31484767 (GRCh37)
                                          Canonical SPDI:
                                          NC_000014.9:31015560:C:A
                                          Gene:
                                          STRN3 (Varview), MIR624 (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          HGVS:

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