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Links from Nucleotide

Items: 1 to 20 of 859

1.

rs1490869588 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>A [Show Flanks]
    Chromosome:
    10:32911538 (GRCh38)
    10:33200466 (GRCh37)
    Canonical SPDI:
    NC_000010.11:32911537:T:A
    Gene:
    ITGB1 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000004/1 (GnomAD_exomes)
    A=0.000004/1 (TOPMED)
    HGVS:
    2.

    rs1490352943 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      10:32910301 (GRCh38)
      10:33199229 (GRCh37)
      Canonical SPDI:
      NC_000010.11:32910300:C:T
      Gene:
      ITGB1 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0.000087/2 (ALFA)
      T=0.000004/1 (TOPMED)
      T=0.000007/1 (GnomAD)
      T=0.000008/2 (GnomAD_exomes)
      HGVS:
      3.

      rs1489320706 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        10:32900936 (GRCh38)
        10:33189864 (GRCh37)
        Canonical SPDI:
        NC_000010.11:32900935:T:C
        Gene:
        ITGB1 (Varview), SNORA86 (Varview)
        Functional Consequence:
        500B_downstream_variant,3_prime_UTR_variant,downstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        C=0./0 (ALFA)
        HGVS:
        4.

        rs1487691064 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          10:32912098 (GRCh38)
          10:33201026 (GRCh37)
          Canonical SPDI:
          NC_000010.11:32912097:T:C
          Gene:
          ITGB1 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Validated:
          by frequency,by alfa
          MAF:
          C=0.000047/1 (ALFA)
          C=0.000008/2 (GnomAD_exomes)
          HGVS:
          5.

          rs1486163827 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>T [Show Flanks]
            Chromosome:
            10:32900912 (GRCh38)
            10:33189840 (GRCh37)
            Canonical SPDI:
            NC_000010.11:32900911:A:T
            Gene:
            ITGB1 (Varview), SNORA86 (Varview)
            Functional Consequence:
            3_prime_UTR_variant,downstream_transcript_variant,500B_downstream_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            T=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1485402398 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A,T [Show Flanks]
              Chromosome:
              10:32901028 (GRCh38)
              10:33189956 (GRCh37)
              Canonical SPDI:
              NC_000010.11:32901027:G:A,NC_000010.11:32901027:G:T
              Gene:
              ITGB1 (Varview), SNORA86 (Varview)
              Functional Consequence:
              3_prime_UTR_variant,downstream_transcript_variant,500B_downstream_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              A=0./0 (Korea1K)
              T=0.000009/1 (GnomAD)
              HGVS:
              7.

              rs1482448825 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                10:32900965 (GRCh38)
                10:33189893 (GRCh37)
                Canonical SPDI:
                NC_000010.11:32900964:T:C
                Gene:
                ITGB1 (Varview), SNORA86 (Varview)
                Functional Consequence:
                3_prime_UTR_variant,downstream_transcript_variant,500B_downstream_variant
                Validated:
                by frequency,by alfa
                MAF:
                C=0./0 (ALFA)
                C=0.000016/2 (GnomAD)
                HGVS:
                8.

                rs1482100655 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  10:32912079 (GRCh38)
                  10:33201007 (GRCh37)
                  Canonical SPDI:
                  NC_000010.11:32912078:A:G
                  Gene:
                  ITGB1 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,synonymous_variant
                  Validated:
                  by frequency,by cluster
                  MAF:
                  G=0.000008/2 (GnomAD_exomes)
                  HGVS:
                  9.

                  rs1481767889 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    10:32910330 (GRCh38)
                    10:33199258 (GRCh37)
                    Canonical SPDI:
                    NC_000010.11:32910329:T:C
                    Gene:
                    ITGB1 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (TOPMED)
                    C=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1481424225 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      10:32907090 (GRCh38)
                      10:33196018 (GRCh37)
                      Canonical SPDI:
                      NC_000010.11:32907089:G:A
                      Gene:
                      ITGB1 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,intron_variant,synonymous_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0.000071/1 (ALFA)
                      A=0.000008/2 (TOPMED)
                      A=0.000016/4 (GnomAD_exomes)
                      A=0.000021/3 (GnomAD)
                      G=0.5/1 (SGDP_PRJ)
                      HGVS:
                      11.

                      rs1481306727 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        10:32901181 (GRCh38)
                        10:33190109 (GRCh37)
                        Canonical SPDI:
                        NC_000010.11:32901180:T:C
                        Gene:
                        ITGB1 (Varview), SNORA86 (Varview)
                        Functional Consequence:
                        3_prime_UTR_variant,downstream_transcript_variant,500B_downstream_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1480577740 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>T [Show Flanks]
                          Chromosome:
                          10:32928250 (GRCh38)
                          10:33217178 (GRCh37)
                          Canonical SPDI:
                          NC_000010.11:32928249:A:T
                          Gene:
                          ITGB1 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000004/1 (TOPMED)
                          T=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1479690659 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            10:32923647 (GRCh38)
                            10:33212575 (GRCh37)
                            Canonical SPDI:
                            NC_000010.11:32923646:C:T
                            Gene:
                            ITGB1 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant
                            Validated:
                            by frequency
                            MAF:
                            T=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            14.

                            rs1478073782 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              10:32900650 (GRCh38)
                              10:33189578 (GRCh37)
                              Canonical SPDI:
                              NC_000010.11:32900649:A:G
                              Gene:
                              ITGB1 (Varview)
                              Functional Consequence:
                              3_prime_UTR_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000008/1 (GnomAD)
                              HGVS:
                              15.

                              rs1477803925 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                10:32911979 (GRCh38)
                                10:33200907 (GRCh37)
                                Canonical SPDI:
                                NC_000010.11:32911978:T:C
                                Gene:
                                ITGB1 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant
                                Validated:
                                by frequency
                                MAF:
                                C=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                17.

                                rs1476371208 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  10:32922710 (GRCh38)
                                  10:33211638 (GRCh37)
                                  Canonical SPDI:
                                  NC_000010.11:32922709:A:G
                                  Gene:
                                  ITGB1 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  HGVS:
                                  18.

                                  rs1475835360 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    AAAAAG>- [Show Flanks]
                                    Chromosome:
                                    10:32900659 (GRCh38)
                                    10:33189587 (GRCh37)
                                    Canonical SPDI:
                                    NC_000010.11:32900654:AAAGAAAAAG:AAAG
                                    Gene:
                                    ITGB1 (Varview)
                                    Functional Consequence:
                                    3_prime_UTR_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    AAAG=0./0 (ALFA)
                                    -=0.000017/2 (GnomAD)
                                    HGVS:
                                    19.

                                    rs1475470200 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      10:32923672 (GRCh38)
                                      10:33212600 (GRCh37)
                                      Canonical SPDI:
                                      NC_000010.11:32923671:A:G
                                      Gene:
                                      ITGB1 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,synonymous_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (GnomAD_exomes)
                                      HGVS:

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