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Items: 1 to 20 of 1308

1.

rs1491421276 has merged into rs771018801 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AT>-,ATAT [Show Flanks]
    Chromosome:
    13:33281406 (GRCh38)
    13:33855543 (GRCh37)
    Canonical SPDI:
    NC_000013.11:33281403:ATAT:AT,NC_000013.11:33281403:ATAT:ATATAT
    Gene:
    STARD13 (Varview), STARD13-AS (Varview)
    Functional Consequence:
    500B_downstream_variant,genic_upstream_transcript_variant,downstream_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    ATAT=0.00049/8 (ALFA)
    -=0.00203/13 (1000Genomes)
    HGVS:
    2.

    rs1491302032 has merged into rs60224228 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      AA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA [Show Flanks]
      Chromosome:
      13:33277059 (GRCh38)
      13:33851196 (GRCh37)
      Canonical SPDI:
      NC_000013.11:33277048:AAAAAAAAAAAA:AAAAAAAAAA,NC_000013.11:33277048:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000013.11:33277048:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000013.11:33277048:AAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000013.11:33277048:AAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000013.11:33277048:AAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000013.11:33277048:AAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
      Gene:
      STARD13 (Varview), STARD13-AS (Varview)
      Functional Consequence:
      upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      AAAAAAAAAAA=0./0 (ALFA)
      -=0.0722/41 (NorthernSweden)
      -=0.125/5 (GENOME_DK)
      HGVS:
      3.

      rs1491200609 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        GA>- [Show Flanks]
        Chromosome:
        13:33277048 (GRCh38)
        13:33851185 (GRCh37)
        Canonical SPDI:
        NC_000013.11:33277047:GA:
        Gene:
        STARD13 (Varview), STARD13-AS (Varview)
        Functional Consequence:
        genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        -=0./0 (ALFA)
        HGVS:
        4.

        rs1491143966 has merged into rs547755407 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          GA>- [Show Flanks]
          Chromosome:
          13:33277067 (GRCh38)
          13:33851204 (GRCh37)
          Canonical SPDI:
          NC_000013.11:33277059:AGAGAGAGA:AGAGAGA
          Gene:
          STARD13 (Varview), STARD13-AS (Varview)
          Functional Consequence:
          upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          AGAGAGAGA=0.446215/7226 (ALFA)
          AG=0.024161/121 (1000Genomes)
          AG=0.052932/204 (ALSPAC)
          AG=0.053937/200 (TWINSUK)
          AG=0.157088/2633 (TOMMO)
          AG=0.388136/229 (NorthernSweden)
          AG=0.411105/56277 (GnomAD)
          AG=0.45/18 (GENOME_DK)
          HGVS:
          5.

          rs1491091189 has merged into rs771018801 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            AT>-,ATAT [Show Flanks]
            Chromosome:
            13:33281406 (GRCh38)
            13:33855543 (GRCh37)
            Canonical SPDI:
            NC_000013.11:33281403:ATAT:AT,NC_000013.11:33281403:ATAT:ATATAT
            Gene:
            STARD13 (Varview), STARD13-AS (Varview)
            Functional Consequence:
            500B_downstream_variant,genic_upstream_transcript_variant,downstream_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            ATAT=0.00049/8 (ALFA)
            -=0.00203/13 (1000Genomes)
            HGVS:
            6.

            rs1491044468 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              AT>- [Show Flanks]
              Chromosome:
              13:33281442 (GRCh38)
              13:33855579 (GRCh37)
              Canonical SPDI:
              NC_000013.11:33281440:TAT:T
              Gene:
              STARD13 (Varview), STARD13-AS (Varview)
              Functional Consequence:
              downstream_transcript_variant,genic_upstream_transcript_variant,500B_downstream_variant,intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              -=0.000065/9 (GnomAD)
              HGVS:
              7.

              rs1489407533 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                13:33280979 (GRCh38)
                13:33855116 (GRCh37)
                Canonical SPDI:
                NC_000013.11:33280978:T:C
                Gene:
                STARD13 (Varview), STARD13-AS (Varview)
                Functional Consequence:
                genic_upstream_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0.000142/2 (ALFA)
                C=0.000004/1 (TOPMED)
                C=0.000014/2 (GnomAD)
                HGVS:
                8.

                rs1488773670 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  13:33277180 (GRCh38)
                  13:33851317 (GRCh37)
                  Canonical SPDI:
                  NC_000013.11:33277179:G:A
                  Gene:
                  STARD13 (Varview), STARD13-AS (Varview)
                  Functional Consequence:
                  genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0.000054/1 (ALFA)
                  A=0.000053/14 (TOPMED)
                  A=0.000071/10 (GnomAD)
                  A=0.000223/1 (Estonian)
                  HGVS:
                  9.

                  rs1485337544 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>T [Show Flanks]
                    Chromosome:
                    13:33277232 (GRCh38)
                    13:33851369 (GRCh37)
                    Canonical SPDI:
                    NC_000013.11:33277231:G:T
                    Gene:
                    STARD13 (Varview), STARD13-AS (Varview)
                    Functional Consequence:
                    genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,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:
                    10.

                    rs1485151015 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      13:33280484 (GRCh38)
                      13:33854621 (GRCh37)
                      Canonical SPDI:
                      NC_000013.11:33280483:G:A
                      Gene:
                      STARD13 (Varview), STARD13-AS (Varview)
                      Functional Consequence:
                      genic_upstream_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000008/2 (TOPMED)
                      A=0.000014/2 (GnomAD)
                      HGVS:
                      11.

                      rs1485120819 has merged into rs34351733 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        GTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
                        Chromosome:
                        13:33281426 (GRCh38)
                        13:33855563 (GRCh37)
                        Canonical SPDI:
                        NC_000013.11:33281406:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000013.11:33281406:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000013.11:33281406:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:33281406:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:33281406:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:33281406:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:33281406:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:33281406:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:33281406:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:33281406:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:33281406:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:33281406:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:33281406:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:33281406:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:33281406:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:33281406:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:33281406:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:33281406:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
                        Gene:
                        STARD13 (Varview), STARD13-AS (Varview)
                        Functional Consequence:
                        500B_downstream_variant,intron_variant,downstream_transcript_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        TGTGTGTGTGTGTGTGTGTGT=0./0 (ALFA)
                        HGVS:
                        NC_000013.11:g.33281408GT[9], NC_000013.11:g.33281408GT[10], NC_000013.11:g.33281408GT[11], NC_000013.11:g.33281408GT[12], NC_000013.11:g.33281408GT[13], NC_000013.11:g.33281408GT[14], NC_000013.11:g.33281408GT[15], NC_000013.11:g.33281408GT[16], NC_000013.11:g.33281408GT[18], NC_000013.11:g.33281408GT[19], NC_000013.11:g.33281408GT[20], NC_000013.11:g.33281408GT[21], NC_000013.11:g.33281408GT[22], NC_000013.11:g.33281408GT[23], NC_000013.11:g.33281408GT[24], NC_000013.11:g.33281408GT[25], NC_000013.11:g.33281408GT[26], NC_000013.11:g.33281408GT[27], NC_000013.10:g.33855545GT[9], NC_000013.10:g.33855545GT[10], NC_000013.10:g.33855545GT[11], NC_000013.10:g.33855545GT[12], NC_000013.10:g.33855545GT[13], NC_000013.10:g.33855545GT[14], NC_000013.10:g.33855545GT[15], NC_000013.10:g.33855545GT[16], NC_000013.10:g.33855545GT[18], NC_000013.10:g.33855545GT[19], NC_000013.10:g.33855545GT[20], NC_000013.10:g.33855545GT[21], NC_000013.10:g.33855545GT[22], NC_000013.10:g.33855545GT[23], NC_000013.10:g.33855545GT[24], NC_000013.10:g.33855545GT[25], NC_000013.10:g.33855545GT[26], NC_000013.10:g.33855545GT[27], NG_029752.2:g.400396CA[9], NG_029752.2:g.400396CA[10], NG_029752.2:g.400396CA[11], NG_029752.2:g.400396CA[12], NG_029752.2:g.400396CA[13], NG_029752.2:g.400396CA[14], NG_029752.2:g.400396CA[15], NG_029752.2:g.400396CA[16], NG_029752.2:g.400396CA[18], NG_029752.2:g.400396CA[19], NG_029752.2:g.400396CA[20], NG_029752.2:g.400396CA[21], NG_029752.2:g.400396CA[22], NG_029752.2:g.400396CA[23], NG_029752.2:g.400396CA[24], NG_029752.2:g.400396CA[25], NG_029752.2:g.400396CA[26], NG_029752.2:g.400396CA[27]
                        12.

                        rs1485074787 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C,T [Show Flanks]
                          Chromosome:
                          13:33275773 (GRCh38)
                          13:33849910 (GRCh37)
                          Canonical SPDI:
                          NC_000013.11:33275772:G:C,NC_000013.11:33275772:G:T
                          Gene:
                          STARD13 (Varview), STARD13-AS (Varview)
                          Functional Consequence:
                          genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          HGVS:
                          13.

                          rs1484827221 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            13:33279967 (GRCh38)
                            13:33854104 (GRCh37)
                            Canonical SPDI:
                            NC_000013.11:33279966:C:T
                            Gene:
                            STARD13 (Varview), STARD13-AS (Varview)
                            Functional Consequence:
                            genic_upstream_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (TOPMED)
                            T=0.000342/1 (KOREAN)
                            HGVS:
                            14.

                            rs1484784844 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              13:33281559 (GRCh38)
                              13:33855696 (GRCh37)
                              Canonical SPDI:
                              NC_000013.11:33281558:A:G
                              Gene:
                              STARD13 (Varview), STARD13-AS (Varview)
                              Functional Consequence:
                              downstream_transcript_variant,genic_upstream_transcript_variant,500B_downstream_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000008/2 (TOPMED)
                              G=0.000021/3 (GnomAD)
                              HGVS:
                              15.

                              rs1483994719 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A,T [Show Flanks]
                                Chromosome:
                                13:33277067 (GRCh38)
                                13:33851204 (GRCh37)
                                Canonical SPDI:
                                NC_000013.11:33277066:G:A,NC_000013.11:33277066:G:T
                                Gene:
                                STARD13 (Varview), STARD13-AS (Varview)
                                Functional Consequence:
                                genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                A=0.000008/1 (GnomAD)
                                HGVS:
                                16.

                                rs1483587321 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>T [Show Flanks]
                                  Chromosome:
                                  13:33276568 (GRCh38)
                                  13:33850705 (GRCh37)
                                  Canonical SPDI:
                                  NC_000013.11:33276567:G:T
                                  Gene:
                                  STARD13 (Varview), STARD13-AS (Varview)
                                  Functional Consequence:
                                  genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  HGVS:
                                  17.

                                  rs1483332125 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    13:33281494 (GRCh38)
                                    13:33855631 (GRCh37)
                                    Canonical SPDI:
                                    NC_000013.11:33281493:C:T
                                    Gene:
                                    STARD13 (Varview), STARD13-AS (Varview)
                                    Functional Consequence:
                                    downstream_transcript_variant,genic_upstream_transcript_variant,500B_downstream_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000007/1 (GnomAD)
                                    T=0.000019/5 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1483087729 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G [Show Flanks]
                                      Chromosome:
                                      13:33279786 (GRCh38)
                                      13:33853923 (GRCh37)
                                      Canonical SPDI:
                                      NC_000013.11:33279785:C:G
                                      Gene:
                                      STARD13 (Varview), STARD13-AS (Varview)
                                      Functional Consequence:
                                      genic_upstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0.000169/2 (ALFA)
                                      G=0.000014/2 (GnomAD)
                                      G=0.000015/4 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1483011816 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        13:33277584 (GRCh38)
                                        13:33851721 (GRCh37)
                                        Canonical SPDI:
                                        NC_000013.11:33277583:C:T
                                        Gene:
                                        STARD13 (Varview), STARD13-AS (Varview)
                                        Functional Consequence:
                                        genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000008/2 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1482444343 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>C [Show Flanks]
                                          Chromosome:
                                          13:33278535 (GRCh38)
                                          13:33852672 (GRCh37)
                                          Canonical SPDI:
                                          NC_000013.11:33278534:A:C
                                          Gene:
                                          STARD13 (Varview), STARD13-AS (Varview)
                                          Functional Consequence:
                                          genic_upstream_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000008/2 (TOPMED)
                                          C=0.000014/2 (GnomAD)
                                          HGVS:

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