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Links from Gene

Items: 1 to 20 of 1000

1.

rs1491584209 [Homo sapiens]
    Variant type:
    SNV:
    Alleles:
    ->TACACACACA
    Chromosome:
    no mapping
    Canonical SPDI:
    2.

    rs1491088304 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      AG>- [Show Flanks]
      Chromosome:
      11:1951123 (GRCh38)
      11:1972353 (GRCh37)
      Canonical SPDI:
      NC_000011.10:1951122:AG:
      Gene:
      MRPL23 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      -=0./0 (ALFA)
      -=0./0 (GnomAD)
      -=0.000015/4 (TOPMED)
      HGVS:
      3.

      rs1491003280 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        TGTCCTCTCCACGGGGTCTGAGCA>- [Show Flanks]
        Chromosome:
        11:1976389 (GRCh38)
        11:1997619 (GRCh37)
        Canonical SPDI:
        NC_000011.10:1976372:CCACGGGGTCTGAGCATGTCCTCTCCACGGGGTCTGAGCA:CCACGGGGTCTGAGCA
        Gene:
        MRPL23 (Varview)
        Functional Consequence:
        intron_variant,genic_downstream_transcript_variant
        Validated:
        by frequency
        MAF:
        -=0.00054/9 (TOMMO)
        HGVS:
        4.

        rs1490951573 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          11:1975174 (GRCh38)
          11:1996404 (GRCh37)
          Canonical SPDI:
          NC_000011.10:1975173:G:A
          Gene:
          MRPL23 (Varview)
          Functional Consequence:
          intron_variant,genic_downstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.00001/1 (GnomAD)
          A=0.000342/1 (KOREAN)
          A=0.00057/1 (Korea1K)
          HGVS:
          5.

          rs1490857130 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            11:1950000 (GRCh38)
            11:1971230 (GRCh37)
            Canonical SPDI:
            NC_000011.10:1949999:C:T
            Gene:
            MRPL23 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            HGVS:
            6.

            rs1490829805 [Homo sapiens]
              Variant type:
              SNV:
              Alleles:
              C>G
              Chromosome:
              no mapping
              Canonical SPDI:
              7.

              rs1490824006 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                11:1982428 (GRCh38)
                11:2003658 (GRCh37)
                Canonical SPDI:
                NC_000011.10:1982427:G:A
                Gene:
                MRPL23 (Varview)
                Functional Consequence:
                intron_variant,genic_downstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0./0 (ALFA)
                HGVS:
                8.

                rs1490777861 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A,G [Show Flanks]
                  Chromosome:
                  11:1983739 (GRCh38)
                  11:2004969 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:1983738:C:A,NC_000011.10:1983738:C:G
                  Gene:
                  MRPL23 (Varview), MRPL23-AS1 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000015/4 (TOPMED)
                  HGVS:
                  9.

                  rs1490745667 [Homo sapiens]
                    Variant type:
                    SNV:
                    Alleles:
                    C>T
                    Chromosome:
                    no mapping
                    Canonical SPDI:
                    10.

                    rs1490659035 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>T [Show Flanks]
                      Chromosome:
                      11:1983122 (GRCh38)
                      11:2004352 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:1983121:G:T
                      Gene:
                      MRPL23 (Varview), MRPL23-AS1 (Varview)
                      Functional Consequence:
                      downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,500B_downstream_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0.00007/1 (ALFA)
                      HGVS:
                      11.

                      rs1490631371 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        11:2012513 (GRCh38)
                        11:2033743 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:2012512:C:T
                        Gene:
                        MRPL23 (Varview)
                        Functional Consequence:
                        intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
                        Validated:
                        by frequency
                        MAF:
                        T=0.00006/1 (TOMMO)
                        HGVS:
                        12.

                        rs1490580551 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          11:1965319 (GRCh38)
                          11:1986549 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:1965318:C:T
                          Gene:
                          MRPL23 (Varview)
                          Functional Consequence:
                          intron_variant,genic_downstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          HGVS:
                          13.

                          rs1490562019 [Homo sapiens]
                            Variant type:
                            SNV:
                            Alleles:
                            C>T
                            Chromosome:
                            no mapping
                            Canonical SPDI:
                            14.

                            rs1490554389 [Homo sapiens]
                              Variant type:
                              SNV:
                              Alleles:
                              ->GC
                              Chromosome:
                              no mapping
                              Canonical SPDI:
                              15.

                              rs1490361732 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                11:2001204 (GRCh38)
                                11:2022434 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:2001203:C:T
                                Gene:
                                MRPL23 (Varview), H19 (Varview)
                                Functional Consequence:
                                genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0.00008/1 (ALFA)
                                HGVS:
                                16.

                                rs1490357584 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  11:1971032 (GRCh38)
                                  11:1992262 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:1971031:C:T
                                  Gene:
                                  MRPL23 (Varview)
                                  Functional Consequence:
                                  intron_variant,genic_downstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000008/1 (GnomAD)
                                  T=0.000019/5 (TOPMED)
                                  T=0.000249/4 (TOMMO)
                                  T=0.004717/1 (Vietnamese)
                                  HGVS:
                                  17.

                                  rs1490330086 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    11:1981787 (GRCh38)
                                    11:2003017 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:1981786:T:C
                                    Gene:
                                    MRPL23 (Varview)
                                    Functional Consequence:
                                    intron_variant,genic_downstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000004/1 (TOPMED)
                                    C=0.000008/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1490268525 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      11:1997599 (GRCh38)
                                      11:2018829 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:1997598:G:A
                                      Gene:
                                      MRPL23 (Varview), H19 (Varview), MIR675 (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
                                      HGVS:
                                      19.

                                      rs1490159759 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>C [Show Flanks]
                                        Chromosome:
                                        11:1978794 (GRCh38)
                                        11:2000024 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:1978793:G:C
                                        Gene:
                                        MRPL23 (Varview)
                                        Functional Consequence:
                                        intron_variant,genic_downstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0.000071/1 (ALFA)
                                        C=0.000026/2 (GnomAD)
                                        C=0.000045/12 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1490092167 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G,T [Show Flanks]
                                          Chromosome:
                                          11:1971355 (GRCh38)
                                          11:1992585 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:1971354:C:G,NC_000011.10:1971354:C:T
                                          Gene:
                                          MRPL23 (Varview)
                                          Functional Consequence:
                                          intron_variant,genic_downstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          HGVS:

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