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Links from Gene

Items: 1 to 20 of 1882

1.

rs1490428504 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    10:22257913 (GRCh38)
    10:22546842 (GRCh37)
    Canonical SPDI:
    NC_000010.11:22257912:C:T
    Gene:
    LOC100130992 (Varview), LOC105376447 (Varview)
    Functional Consequence:
    non_coding_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    T=0.0002/1 (ALFA)
    T=0.0002/1 (Estonian)
    HGVS:
    2.

    rs1490351712 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>T [Show Flanks]
      Chromosome:
      10:22255029 (GRCh38)
      10:22543958 (GRCh37)
      Canonical SPDI:
      NC_000010.11:22255028:G:T
      Gene:
      LOC100130992 (Varview), LOC105376447 (Varview)
      Functional Consequence:
      non_coding_transcript_variant
      Validated:
      by frequency
      MAF:
      T=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1489732893 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>T [Show Flanks]
        Chromosome:
        10:22258249 (GRCh38)
        10:22547178 (GRCh37)
        Canonical SPDI:
        NC_000010.11:22258248:A:T
        Gene:
        LOC100130992 (Varview), LOC105376447 (Varview)
        Functional Consequence:
        non_coding_transcript_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.

        rs1489606571 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>G [Show Flanks]
          Chromosome:
          10:22254693 (GRCh38)
          10:22543622 (GRCh37)
          Canonical SPDI:
          NC_000010.11:22254692:T:G
          Gene:
          LOC100130992 (Varview), LOC105376447 (Varview)
          Functional Consequence:
          non_coding_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          G=0./0 (ALFA)
          HGVS:
          5.

          rs1488214940 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            10:22253489 (GRCh38)
            10:22542418 (GRCh37)
            Canonical SPDI:
            NC_000010.11:22253488:A:G
            Gene:
            LOC100130992 (Varview), LOC105376447 (Varview)
            Functional Consequence:
            non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000007/1 (GnomAD)
            G=0.00003/8 (TOPMED)
            HGVS:
            6.

            rs1487942170 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>C,G [Show Flanks]
              Chromosome:
              10:22254549 (GRCh38)
              10:22543478 (GRCh37)
              Canonical SPDI:
              NC_000010.11:22254548:A:C,NC_000010.11:22254548:A:G
              Gene:
              LOC100130992 (Varview), LOC105376447 (Varview)
              Functional Consequence:
              non_coding_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0./0 (ALFA)
              C=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1487876702 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                10:22255695 (GRCh38)
                10:22544624 (GRCh37)
                Canonical SPDI:
                NC_000010.11:22255694:A:G
                Gene:
                LOC100130992 (Varview), LOC105376447 (Varview)
                Functional Consequence:
                non_coding_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0.000071/1 (ALFA)
                G=0.000014/2 (GnomAD)
                G=0.00003/8 (TOPMED)
                HGVS:
                8.

                rs1487642503 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>C [Show Flanks]
                  Chromosome:
                  10:22255874 (GRCh38)
                  10:22544803 (GRCh37)
                  Canonical SPDI:
                  NC_000010.11:22255873:G:C
                  Gene:
                  LOC100130992 (Varview), LOC105376447 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000015/4 (TOPMED)
                  C=0.000021/3 (GnomAD)
                  HGVS:
                  9.

                  rs1487636847 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A [Show Flanks]
                    Chromosome:
                    10:22252704 (GRCh38)
                    10:22541633 (GRCh37)
                    Canonical SPDI:
                    NC_000010.11:22252703:C:A
                    Gene:
                    LOC100130992 (Varview), LOC105376447 (Varview)
                    Functional Consequence:
                    intron_variant,non_coding_transcript_variant,splice_donor_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000007/1 (GnomAD)
                    A=0.000008/2 (TOPMED)
                    HGVS:
                    10.

                    rs1487464013 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      10:22256659 (GRCh38)
                      10:22545588 (GRCh37)
                      Canonical SPDI:
                      NC_000010.11:22256658:G:A
                      Gene:
                      LOC100130992 (Varview), LOC105376447 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0.000071/1 (ALFA)
                      A=0.000008/2 (TOPMED)
                      A=0.000014/2 (GnomAD)
                      HGVS:
                      11.

                      rs1487309265 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>T [Show Flanks]
                        Chromosome:
                        10:22253860 (GRCh38)
                        10:22542789 (GRCh37)
                        Canonical SPDI:
                        NC_000010.11:22253859:A:T
                        Gene:
                        LOC100130992 (Varview), LOC105376447 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant
                        Validated:
                        by frequency
                        MAF:
                        T=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1487188640 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>T [Show Flanks]
                          Chromosome:
                          10:22252764 (GRCh38)
                          10:22541693 (GRCh37)
                          Canonical SPDI:
                          NC_000010.11:22252763:G:T
                          Gene:
                          LOC100130992 (Varview), LOC105376447 (Varview)
                          Functional Consequence:
                          intron_variant,non_coding_transcript_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.

                          rs1485908352 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            10:22256816 (GRCh38)
                            10:22545745 (GRCh37)
                            Canonical SPDI:
                            NC_000010.11:22256815:T:C
                            Gene:
                            LOC100130992 (Varview), LOC105376447 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (TOPMED)
                            HGVS:
                            14.

                            rs1485580979 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              10:22257348 (GRCh38)
                              10:22546277 (GRCh37)
                              Canonical SPDI:
                              NC_000010.11:22257347:C:T
                              Gene:
                              LOC100130992 (Varview), LOC105376447 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              HGVS:
                              15.

                              rs1485289388 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>T [Show Flanks]
                                Chromosome:
                                10:22253543 (GRCh38)
                                10:22542472 (GRCh37)
                                Canonical SPDI:
                                NC_000010.11:22253542:G:T
                                Gene:
                                LOC100130992 (Varview), LOC105376447 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000011/3 (TOPMED)
                                HGVS:
                                16.

                                rs1484944522 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A [Show Flanks]
                                  Chromosome:
                                  10:22251316 (GRCh38)
                                  10:22540245 (GRCh37)
                                  Canonical SPDI:
                                  NC_000010.11:22251315:C:A
                                  Gene:
                                  LOC100130992 (Varview), LOC105376447 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0.000071/1 (ALFA)
                                  A=0.000011/3 (TOPMED)
                                  A=0.000021/3 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1484691544 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    10:22250688 (GRCh38)
                                    10:22539617 (GRCh37)
                                    Canonical SPDI:
                                    NC_000010.11:22250687:G:A
                                    Gene:
                                    LOC100130992 (Varview), LOC105376447 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1484400169 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A,T [Show Flanks]
                                      Chromosome:
                                      10:22250315 (GRCh38)
                                      10:22539244 (GRCh37)
                                      Canonical SPDI:
                                      NC_000010.11:22250314:G:A,NC_000010.11:22250314:G:T
                                      Gene:
                                      LOC100130992 (Varview), LOC105376447 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      A=0.000049/13 (TOPMED)
                                      A=0.000078/11 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1483057997 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        ->TTAT [Show Flanks]
                                        Chromosome:
                                        10:22251102 (GRCh38)
                                        10:22540032 (GRCh37)
                                        Canonical SPDI:
                                        NC_000010.11:22251102:TAT:TATTTAT
                                        Gene:
                                        LOC100130992 (Varview), LOC105376447 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        TATTTAT=0./0 (ALFA)
                                        TATT=0.000008/1 (GnomAD)
                                        TATT=0.000071/1 (TOMMO)
                                        HGVS:
                                        20.

                                        rs1482572972 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>A,C [Show Flanks]
                                          Chromosome:
                                          10:22251653 (GRCh38)
                                          10:22540582 (GRCh37)
                                          Canonical SPDI:
                                          NC_000010.11:22251652:T:A,NC_000010.11:22251652:T:C
                                          Gene:
                                          LOC100130992 (Varview), LOC105376447 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          HGVS:

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