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Items: 1 to 20 of 1745

1.

rs1491573725 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    GG>- [Show Flanks]
    Chromosome:
    6:149029910 (GRCh38)
    6:149351046 (GRCh37)
    Canonical SPDI:
    NC_000006.12:149029909:GG:
    Gene:
    UST (Varview), UST-AS2 (Varview)
    Functional Consequence:
    intron_variant,genic_downstream_transcript_variant
    Validated:
    by frequency,by cluster
    MAF:
    -=0.0065/25 (ALSPAC)
    -=0.0124/46 (TWINSUK)
    HGVS:
    2.

    rs1491536051 has merged into rs3074362 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TGTGTGTGTGTGTGTGTGTGTGTGTGTG>-,TG,TGTG,TGTGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG [Show Flanks]
      Chromosome:
      6:149029883 (GRCh38)
      6:149351019 (GRCh37)
      Canonical SPDI:
      NC_000006.12:149029866:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTG,NC_000006.12:149029866:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTG,NC_000006.12:149029866:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTG,NC_000006.12:149029866:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:149029866:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:149029866:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:149029866:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:149029866:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:149029866:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:149029866:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:149029866:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:149029866:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:149029866:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:149029866:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:149029866:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:149029866:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:149029866:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:149029866:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:149029866:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:149029866:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:149029866:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
      Gene:
      UST (Varview), UST-AS2 (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TGTGTGTGTGTGTGTG=0./0 (ALFA)
      -=0.2408/928 (ALSPAC)
      -=0.4311/2159 (1000Genomes)
      HGVS:
      NC_000006.12:g.149029867TG[8], NC_000006.12:g.149029867TG[9], NC_000006.12:g.149029867TG[10], NC_000006.12:g.149029867TG[11], NC_000006.12:g.149029867TG[12], NC_000006.12:g.149029867TG[13], NC_000006.12:g.149029867TG[14], NC_000006.12:g.149029867TG[15], NC_000006.12:g.149029867TG[16], NC_000006.12:g.149029867TG[17], NC_000006.12:g.149029867TG[18], NC_000006.12:g.149029867TG[19], NC_000006.12:g.149029867TG[20], NC_000006.12:g.149029867TG[21], NC_000006.12:g.149029867TG[23], NC_000006.12:g.149029867TG[24], NC_000006.12:g.149029867TG[25], NC_000006.12:g.149029867TG[26], NC_000006.12:g.149029867TG[27], NC_000006.12:g.149029867TG[28], NC_000006.12:g.149029867TG[29], NC_000006.11:g.149351003TG[8], NC_000006.11:g.149351003TG[9], NC_000006.11:g.149351003TG[10], NC_000006.11:g.149351003TG[11], NC_000006.11:g.149351003TG[12], NC_000006.11:g.149351003TG[13], NC_000006.11:g.149351003TG[14], NC_000006.11:g.149351003TG[15], NC_000006.11:g.149351003TG[16], NC_000006.11:g.149351003TG[17], NC_000006.11:g.149351003TG[18], NC_000006.11:g.149351003TG[19], NC_000006.11:g.149351003TG[20], NC_000006.11:g.149351003TG[21], NC_000006.11:g.149351003TG[23], NC_000006.11:g.149351003TG[24], NC_000006.11:g.149351003TG[25], NC_000006.11:g.149351003TG[26], NC_000006.11:g.149351003TG[27], NC_000006.11:g.149351003TG[28], NC_000006.11:g.149351003TG[29]
      3.

      rs1490707361 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        6:149028723 (GRCh38)
        6:149349859 (GRCh37)
        Canonical SPDI:
        NC_000006.12:149028722:C:T
        Gene:
        UST (Varview), UST-AS2 (Varview)
        Functional Consequence:
        genic_downstream_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:
        4.

        rs1489809089 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A [Show Flanks]
          Chromosome:
          6:149031200 (GRCh38)
          6:149352336 (GRCh37)
          Canonical SPDI:
          NC_000006.12:149031199:C:A
          Gene:
          UST (Varview), UST-AS2 (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          A=0./0 (ALFA)
          HGVS:
          5.

          rs1489316422 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>T [Show Flanks]
            Chromosome:
            6:149031259 (GRCh38)
            6:149352395 (GRCh37)
            Canonical SPDI:
            NC_000006.12:149031258:G:T
            Gene:
            UST (Varview), UST-AS2 (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            T=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1489136735 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A,T [Show Flanks]
              Chromosome:
              6:149034035 (GRCh38)
              6:149355171 (GRCh37)
              Canonical SPDI:
              NC_000006.12:149034034:C:A,NC_000006.12:149034034:C:T
              Gene:
              UST (Varview), UST-AS2 (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0./0 (GnomAD)
              A=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1488957096 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G,T [Show Flanks]
                Chromosome:
                6:149029543 (GRCh38)
                6:149350679 (GRCh37)
                Canonical SPDI:
                NC_000006.12:149029542:A:G,NC_000006.12:149029542:A:T
                Gene:
                UST (Varview), UST-AS2 (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0./0 (ALFA)
                T=0.000073/10 (GnomAD)
                HGVS:
                8.

                rs1488912941 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  6:149031994 (GRCh38)
                  6:149353130 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:149031993:A:G
                  Gene:
                  UST (Varview), UST-AS2 (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000014/2 (GnomAD)
                  HGVS:
                  9.

                  rs1488333281 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A [Show Flanks]
                    Chromosome:
                    6:149027772 (GRCh38)
                    6:149348908 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:149027771:C:A
                    Gene:
                    UST (Varview), UST-AS2 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0.000142/2 (ALFA)
                    A=0.000014/2 (GnomAD)
                    A=0.000019/5 (TOPMED)
                    HGVS:
                    10.

                    rs1488183612 has merged into rs869128845 [Homo sapiens]
                      Variant type:
                      DEL
                      Alleles:
                      G>- [Show Flanks]
                      Chromosome:
                      6:149027861 (GRCh38)
                      6:149348997 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:149027860:G:
                      Gene:
                      UST (Varview), UST-AS2 (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      -=0./0 (ALFA)
                      HGVS:
                      11.

                      rs1487485833 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        ->TATTT [Show Flanks]
                        Chromosome:
                        6:149027015 (GRCh38)
                        6:149348152 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:149027015:TATTT:TATTTTATTT
                        Gene:
                        UST (Varview), UST-AS2 (Varview)
                        Functional Consequence:
                        downstream_transcript_variant,genic_downstream_transcript_variant,500B_downstream_variant,intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        TATTTTATTT=0./0 (ALFA)
                        HGVS:
                        12.

                        rs1487002943 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          6:149028265 (GRCh38)
                          6:149349401 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:149028264:A:G
                          Gene:
                          UST (Varview), UST-AS2 (Varview)
                          Functional Consequence:
                          genic_downstream_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:
                          13.

                          rs1486894079 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            TTC>- [Show Flanks]
                            Chromosome:
                            6:149032609 (GRCh38)
                            6:149353745 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:149032604:CTTCTTC:CTTC
                            Gene:
                            UST (Varview), UST-AS2 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            CTTC=0./0 (ALFA)
                            -=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1486831932 [Homo sapiens]
                              Variant type:
                              SNV:
                              Alleles:
                              ATATACATTATATT>-
                              Chromosome:
                              no mapping
                              Canonical SPDI:
                              15.

                              rs1486087497 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>T [Show Flanks]
                                Chromosome:
                                6:149029476 (GRCh38)
                                6:149350612 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:149029475:A:T
                                Gene:
                                UST (Varview), UST-AS2 (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                HGVS:
                                16.

                                rs1486034420 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  6:149030402 (GRCh38)
                                  6:149351538 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:149030401:G:A
                                  Gene:
                                  UST (Varview), UST-AS2 (Varview)
                                  Functional Consequence:
                                  genic_downstream_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:
                                  17.

                                  rs1485972856 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>G [Show Flanks]
                                    Chromosome:
                                    6:149034256 (GRCh38)
                                    6:149355392 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:149034255:T:G
                                    Gene:
                                    UST (Varview), UST-AS2 (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000008/2 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1485671996 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>G [Show Flanks]
                                      Chromosome:
                                      6:149033571 (GRCh38)
                                      6:149354707 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:149033570:T:G
                                      Gene:
                                      UST (Varview), UST-AS2 (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,2KB_upstream_variant,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:
                                      19.

                                      rs1485444906 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        ->T [Show Flanks]
                                        Chromosome:
                                        6:149031328 (GRCh38)
                                        6:149352465 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:149031328:TTTTTTTT:TTTTTTTTT
                                        Gene:
                                        UST (Varview), UST-AS2 (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        TTTTTTTTT=0./0 (ALFA)
                                        T=0.000014/2 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1485130762 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>T [Show Flanks]
                                          Chromosome:
                                          6:149028820 (GRCh38)
                                          6:149349956 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:149028819:G:T
                                          Gene:
                                          UST (Varview), UST-AS2 (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000008/2 (TOPMED)
                                          T=0.000021/3 (GnomAD)
                                          HGVS:

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