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Links from Nucleotide

Items: 1 to 20 of 2416

1.

rs1491337123 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    GA>- [Show Flanks]
    Chromosome:
    X:13044320 (GRCh38)
    X:13062439 (GRCh37)
    Canonical SPDI:
    NC_000023.11:13044319:GA:
    Gene:
    FAM9C (Varview), LOC105373133 (Varview)
    Functional Consequence:
    intron_variant,upstream_transcript_variant,frameshift_variant,2KB_upstream_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    -=0./0 (ALFA)
    -=0.00368/41 (TOMMO)
    HGVS:
    2.

    rs1491018769 has merged into rs936158241 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TA>-,TATA [Show Flanks]
      Chromosome:
      X:13034444 (GRCh38)
      X:13052563 (GRCh37)
      Canonical SPDI:
      NC_000023.11:13034436:ATATATATA:ATATATA,NC_000023.11:13034436:ATATATATA:ATATATATATA
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      ATATATATATA=0./0 (ALFA)
      -=0.00005/1 (TOMMO)
      HGVS:
      3.

      rs1490821702 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        X:13034793 (GRCh38)
        X:13052912 (GRCh37)
        Canonical SPDI:
        NC_000023.11:13034792:T:C
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0.000142/2 (ALFA)
        C=0.000034/9 (TOPMED)
        C=0.000038/4 (GnomAD)
        HGVS:
        4.

        rs1490816726 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          X:13039165 (GRCh38)
          X:13057284 (GRCh37)
          Canonical SPDI:
          NC_000023.11:13039164:T:C
          Gene:
          FAM9C (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency
          MAF:
          C=0.00001/1 (GnomAD)
          HGVS:
          5.

          rs1490651346 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>A [Show Flanks]
            Chromosome:
            X:13041178 (GRCh38)
            X:13059297 (GRCh37)
            Canonical SPDI:
            NC_000023.11:13041177:T:A
            Gene:
            FAM9C (Varview)
            Functional Consequence:
            intron_variant
            HGVS:
            6.

            rs1490512830 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              X:13042642 (GRCh38)
              X:13060761 (GRCh37)
              Canonical SPDI:
              NC_000023.11:13042641:C:T
              Gene:
              FAM9C (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              T=0.000008/2 (TOPMED)
              HGVS:
              7.

              rs1490359370 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>C [Show Flanks]
                Chromosome:
                X:13041219 (GRCh38)
                X:13059338 (GRCh37)
                Canonical SPDI:
                NC_000023.11:13041218:G:C
                Gene:
                FAM9C (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                C=0./0 (ALFA)
                C=0.000008/2 (TOPMED)
                HGVS:
                8.

                rs1489957729 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C [Show Flanks]
                  Chromosome:
                  X:13049313 (GRCh38)
                  X:13067432 (GRCh37)
                  Canonical SPDI:
                  NC_000023.11:13049312:A:C
                  Gene:
                  LOC105373133 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (TOPMED)
                  C=0.00001/1 (GnomAD)
                  HGVS:
                  9.

                  rs1489728669 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>A,C [Show Flanks]
                    Chromosome:
                    X:13049066 (GRCh38)
                    X:13067185 (GRCh37)
                    Canonical SPDI:
                    NC_000023.11:13049065:T:A,NC_000023.11:13049065:T:C
                    Gene:
                    LOC105373133 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    A=0.00004/1 (TOMMO)
                    HGVS:
                    10.

                    rs1489218078 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      X:13045813 (GRCh38)
                      X:13063932 (GRCh37)
                      Canonical SPDI:
                      NC_000023.11:13045812:G:A
                      Gene:
                      FAM9C (Varview), LOC105373133 (Varview)
                      Functional Consequence:
                      intron_variant,2KB_upstream_variant,upstream_transcript_variant
                      Validated:
                      by frequency
                      MAF:
                      A=0.00001/1 (GnomAD)
                      HGVS:
                      11.

                      rs1489032538 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        X:13044671 (GRCh38)
                        X:13062790 (GRCh37)
                        Canonical SPDI:
                        NC_000023.11:13044670:G:A
                        Gene:
                        FAM9C (Varview), LOC105373133 (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000011/3 (TOPMED)
                        HGVS:
                        12.

                        rs1488704484 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          X:13044916 (GRCh38)
                          X:13063035 (GRCh37)
                          Canonical SPDI:
                          NC_000023.11:13044915:C:T
                          Gene:
                          FAM9C (Varview), LOC105373133 (Varview)
                          Functional Consequence:
                          intron_variant,2KB_upstream_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000008/2 (TOPMED)
                          HGVS:
                          13.

                          rs1488654492 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            X:13044043 (GRCh38)
                            X:13062162 (GRCh37)
                            Canonical SPDI:
                            NC_000023.11:13044042:C:T
                            Gene:
                            FAM9C (Varview), LOC105373133 (Varview)
                            Functional Consequence:
                            intron_variant,2KB_upstream_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0.000071/1 (ALFA)
                            T=0.000011/3 (TOPMED)
                            HGVS:
                            14.

                            rs1488636482 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              X:13039378 (GRCh38)
                              X:13057497 (GRCh37)
                              Canonical SPDI:
                              NC_000023.11:13039377:G:A
                              Gene:
                              FAM9C (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0./0 (ALFA)
                              HGVS:
                              15.

                              rs1488565128 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                X:13035460 (GRCh38)
                                X:13053579 (GRCh37)
                                Canonical SPDI:
                                NC_000023.11:13035459:A:G
                                Gene:
                                FAM9C (Varview)
                                Functional Consequence:
                                500B_downstream_variant,downstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0.000142/2 (ALFA)
                                G=0.00001/1 (GnomAD)
                                G=0.000011/3 (TOPMED)
                                HGVS:
                                16.

                                rs1488564498 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  X:13037733 (GRCh38)
                                  X:13055852 (GRCh37)
                                  Canonical SPDI:
                                  NC_000023.11:13037732:G:A
                                  Gene:
                                  FAM9C (Varview)
                                  Functional Consequence:
                                  intron_variant,3_prime_UTR_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000019/2 (GnomAD)
                                  A=0.000019/5 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1488236543 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    X:13037460 (GRCh38)
                                    X:13055579 (GRCh37)
                                    Canonical SPDI:
                                    NC_000023.11:13037459:T:C
                                    Gene:
                                    FAM9C (Varview)
                                    Functional Consequence:
                                    intron_variant,3_prime_UTR_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0.000132/2 (ALFA)
                                    C=0.000008/2 (TOPMED)
                                    C=0.00001/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1488169933 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      X:13034344 (GRCh38)
                                      X:13052463 (GRCh37)
                                      Canonical SPDI:
                                      NC_000023.11:13034343:T:C
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0.000071/1 (ALFA)
                                      C=0.000008/2 (TOPMED)
                                      C=0.00001/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1487816370 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        X:13047587 (GRCh38)
                                        X:13065706 (GRCh37)
                                        Canonical SPDI:
                                        NC_000023.11:13047586:A:G
                                        Gene:
                                        LOC105373133 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0.000142/2 (ALFA)
                                        G=0.000019/2 (GnomAD)
                                        G=0.000023/6 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1487650032 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          X:13042623 (GRCh38)
                                          X:13060742 (GRCh37)
                                          Canonical SPDI:
                                          NC_000023.11:13042622:G:A
                                          Gene:
                                          FAM9C (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          A=0.00001/1 (GnomAD)
                                          HGVS:

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