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Links from Nucleotide

Items: 1 to 20 of 449

1.

rs1491278915 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    CT>- [Show Flanks]
    Chromosome:
    22:24004472 (GRCh38)
    22:24400918 (GRCh37)
    Canonical SPDI:
    NC_000022.11:24004471:CT:
    Gene:
    GSTT4 (Varview), LOC105372959 (Varview)
    Functional Consequence:
    2KB_upstream_variant,intron_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    -=0./0 (ALFA)
    HGVS:
    2.

    rs1491149022 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->T [Show Flanks]
      Chromosome:
      22:24004472 (GRCh38)
      22:24400919 (GRCh37)
      Canonical SPDI:
      NC_000022.11:24004472:TTTT:TTTTT
      Gene:
      GSTT4 (Varview), LOC105372959 (Varview)
      Functional Consequence:
      2KB_upstream_variant,intron_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      TTTTT=0./0 (ALFA)
      HGVS:
      3.

      rs1490997495 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        22:24003774 (GRCh38)
        22:24400220 (GRCh37)
        Canonical SPDI:
        NC_000022.11:24003773:A:G
        Gene:
        GSTT4 (Varview), LOC105372959 (Varview)
        Functional Consequence:
        upstream_transcript_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,2KB_upstream_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000004/1 (TOPMED)
        G=0.000007/1 (GnomAD)
        HGVS:
        4.

        rs1489680360 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>C [Show Flanks]
          Chromosome:
          22:24004427 (GRCh38)
          22:24400873 (GRCh37)
          Canonical SPDI:
          NC_000022.11:24004426:G:C
          Gene:
          GSTT4 (Varview), LOC105372959 (Varview)
          Functional Consequence:
          2KB_upstream_variant,intron_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          C=0./0 (ALFA)
          HGVS:
          5.

          rs1488888011 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A,C,T [Show Flanks]
            Chromosome:
            22:24004334 (GRCh38)
            22:24400780 (GRCh37)
            Canonical SPDI:
            NC_000022.11:24004333:G:A,NC_000022.11:24004333:G:C,NC_000022.11:24004333:G:T
            Gene:
            GSTT4 (Varview), LOC105372959 (Varview)
            Functional Consequence:
            2KB_upstream_variant,intron_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            A=0.00031/2 (1000Genomes)
            HGVS:
            6.

            rs1488237200 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G [Show Flanks]
              Chromosome:
              22:24004919 (GRCh38)
              22:24401365 (GRCh37)
              Canonical SPDI:
              NC_000022.11:24004918:C:G
              Gene:
              GSTT4 (Varview), LOC105372959 (Varview)
              Functional Consequence:
              2KB_upstream_variant,intron_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000014/2 (GnomAD)
              G=0.000026/7 (TOPMED)
              G=0.000106/2 (TOMMO)
              G=0.000342/1 (KOREAN)
              HGVS:
              7.

              rs1487250360 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                22:24004640 (GRCh38)
                22:24401086 (GRCh37)
                Canonical SPDI:
                NC_000022.11:24004639:G:A
                Gene:
                GSTT4 (Varview), LOC105372959 (Varview)
                Functional Consequence:
                2KB_upstream_variant,intron_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0./0 (ALFA)
                A=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1485591142 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  G>-,GG [Show Flanks]
                  Chromosome:
                  22:24004330 (GRCh38)
                  22:24400776 (GRCh37)
                  Canonical SPDI:
                  NC_000022.11:24004329:GGGGG:GGGG,NC_000022.11:24004329:GGGGG:GGGGGG
                  Gene:
                  GSTT4 (Varview), LOC105372959 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,intron_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  GGGGGG=0./0 (ALFA)
                  -=0.000008/2 (TOPMED)
                  -=0.000014/2 (GnomAD)
                  HGVS:
                  9.

                  rs1481462097 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    22:24003816 (GRCh38)
                    22:24400262 (GRCh37)
                    Canonical SPDI:
                    NC_000022.11:24003815:G:A
                    Gene:
                    GSTT4 (Varview), LOC105372959 (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0.000071/1 (ALFA)
                    A=0.000004/1 (TOPMED)
                    HGVS:
                    10.

                    rs1478243123 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      C>- [Show Flanks]
                      Chromosome:
                      22:24004825 (GRCh38)
                      22:24401271 (GRCh37)
                      Canonical SPDI:
                      NC_000022.11:24004824:CCC:CC
                      Gene:
                      GSTT4 (Varview), LOC105372959 (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,intron_variant,upstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      CC=0./0 (ALFA)
                      HGVS:
                      11.

                      rs1477587227 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        22:24005433 (GRCh38)
                        22:24401879 (GRCh37)
                        Canonical SPDI:
                        NC_000022.11:24005432:G:A
                        Gene:
                        GSTT4 (Varview), LOC105372959 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000043/6 (GnomAD)
                        HGVS:
                        12.

                        rs1476834688 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          GT>- [Show Flanks]
                          Chromosome:
                          22:24004702 (GRCh38)
                          22:24401148 (GRCh37)
                          Canonical SPDI:
                          NC_000022.11:24004700:TGT:T
                          Gene:
                          GSTT4 (Varview), LOC105372959 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,intron_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          -=0.000014/2 (GnomAD)
                          -=0.000023/6 (TOPMED)
                          HGVS:
                          13.

                          rs1476186950 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            A>- [Show Flanks]
                            Chromosome:
                            22:24005298 (GRCh38)
                            22:24401744 (GRCh37)
                            Canonical SPDI:
                            NC_000022.11:24005297:AA:A
                            Gene:
                            GSTT4 (Varview), LOC105372959 (Varview)
                            Functional Consequence:
                            5_prime_UTR_variant,upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,frameshift_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            AA=0.000071/1 (ALFA)
                            -=0.000021/3 (GnomAD)
                            HGVS:
                            14.

                            rs1474318687 [Homo sapiens]
                              Variant type:
                              SNV:
                              Alleles:
                              C>T
                              Chromosome:
                              no mapping
                              Canonical SPDI:
                              15.

                              rs1473552927 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>T [Show Flanks]
                                Chromosome:
                                22:24004696 (GRCh38)
                                22:24401142 (GRCh37)
                                Canonical SPDI:
                                NC_000022.11:24004695:G:T
                                Gene:
                                GSTT4 (Varview), LOC105372959 (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,intron_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0.000084/1 (ALFA)
                                T=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1472113386 [Homo sapiens]
                                  Variant type:
                                  DEL
                                  Alleles:
                                  CT>- [Show Flanks]
                                  Chromosome:
                                  22:24004997 (GRCh38)
                                  22:24401443 (GRCh37)
                                  Canonical SPDI:
                                  NC_000022.11:24004996:CT:
                                  Gene:
                                  GSTT4 (Varview), LOC105372959 (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,intron_variant,upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  -=0./0 (ALFA)
                                  -=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1471691086 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    22:24004834 (GRCh38)
                                    22:24401280 (GRCh37)
                                    Canonical SPDI:
                                    NC_000022.11:24004833:C:T
                                    Gene:
                                    GSTT4 (Varview), LOC105372959 (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,intron_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0./0 (ALFA)
                                    HGVS:
                                    18.

                                    rs1469057363 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      22:24005443 (GRCh38)
                                      22:24401889 (GRCh37)
                                      Canonical SPDI:
                                      NC_000022.11:24005442:C:T
                                      Gene:
                                      GSTT4 (Varview), LOC105372959 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000021/3 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1468917385 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A,C [Show Flanks]
                                        Chromosome:
                                        22:24004193 (GRCh38)
                                        22:24400639 (GRCh37)
                                        Canonical SPDI:
                                        NC_000022.11:24004192:G:A,NC_000022.11:24004192:G:C
                                        Gene:
                                        GSTT4 (Varview), LOC105372959 (Varview)
                                        Functional Consequence:
                                        intron_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        HGVS:
                                        20.

                                        rs1466372515 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>C [Show Flanks]
                                          Chromosome:
                                          22:24003809 (GRCh38)
                                          22:24400255 (GRCh37)
                                          Canonical SPDI:
                                          NC_000022.11:24003808:G:C
                                          Gene:
                                          GSTT4 (Varview), LOC105372959 (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,2KB_upstream_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000004/1 (TOPMED)
                                          HGVS:

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