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Items: 1 to 20 of 125903

1.

rs1491587775 [Homo sapiens]
    Variant type:
    INS
    Alleles:
    ->TTAATAAATTAT
    Chromosome:
    3:143449866
    Gene:
    SLC9A9 (Varview)
    Functional Consequence:
    intron_variant,genic_downstream_transcript_variant
    HGVS:
    NC_000003.12:g.143449865_143449866insTTAATAAATTAT, NC_000003.11:g.143168707_143168708insTTAATAAATTAT, NG_017077.1:g.403666_403667insATAATTTATTAA
    2.

    rs1491587573 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TGT>TGTGT
      Chromosome:
      3:143724459
      Gene:
      SLC9A9 (Varview)
      Functional Consequence:
      genic_upstream_transcript_variant,intron_variant
      Validated:
      by frequency
      MAF:
      TG=0.0000/1 (TOPMED)
      HGVS:
      NC_000003.12:g.143724460_143724461dup, NC_000003.11:g.143443302_143443303dup, NG_017077.1:g.129072_129073dup
      3.

      rs1491584800 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        T>TT
        Chromosome:
        3:143751221
        Gene:
        SLC9A9 (Varview)
        Functional Consequence:
        genic_upstream_transcript_variant,intron_variant
        Validated:
        by frequency
        MAF:
        T=0.0000/1 (GnomAD)
        HGVS:
        NC_000003.12:g.143751221dup, NC_000003.11:g.143470063dup, NG_017077.1:g.102311dup
        4.

        rs1491580426 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          TT>TTATT
          Chromosome:
          3:143569816
          Gene:
          SLC9A9 (Varview)
          Functional Consequence:
          intron_variant,genic_downstream_transcript_variant
          Validated:
          by frequency
          MAF:
          TTA=0.0000/1 (GnomAD)
          HGVS:
          NC_000003.12:g.143569817_143569818insATT, NC_000003.11:g.143288659_143288660insATT, NG_017077.1:g.283716_283717insTAA
          5.

          rs1491579024 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            TAT>T
            Chromosome:
            3:143596299
            Gene:
            SLC9A9 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by cluster
            MAF:
            -=0.0000/2 (TOPMED)
            HGVS:
            NC_000003.12:g.143596300_143596301delAT, NC_000003.11:g.143315142_143315143delAT, NG_017077.1:g.257232_257233delTA
            6.

            rs1491576129 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              GGGGG>GGGGGG
              Chromosome:
              3:143290137
              Gene:
              SLC9A9 (Varview)
              Functional Consequence:
              intron_variant,genic_downstream_transcript_variant
              HGVS:
              NC_000003.12:g.143290141dup, NC_000003.11:g.143008983dup, NG_017077.1:g.563395dup
              7.

              rs1491568655 has merged into rs530202918 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                TTTTTTTTTTTTTTTT>TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT
                Chromosome:
                3:143569815
                Gene:
                SLC9A9 (Varview)
                Functional Consequence:
                intron_variant,genic_downstream_transcript_variant
                Validated:
                by frequency,by cluster
                MAF:
                -=0.0001/10 (TOPMED)
                HGVS:
                NC_000003.12:g.143569824_143569830delTTTTTTT, NC_000003.12:g.143569825_143569830delTTTTTT, NC_000003.12:g.143569829_143569830delTT, NC_000003.12:g.143569830delT, NC_000003.12:g.143569830dup, NC_000003.11:g.143288666_143288672delTTTTTTT, NC_000003.11:g.143288667_143288672delTTTTTT, NC_000003.11:g.143288671_143288672delTT, NC_000003.11:g.143288672delT, NC_000003.11:g.143288672dup, NG_017077.1:g.283711_283717delAAAAAAA, NG_017077.1:g.283712_283717delAAAAAA, NG_017077.1:g.283716_283717delAA, NG_017077.1:g.283717delA, NG_017077.1:g.283717dup
                8.

                rs1491551464 [Homo sapiens]
                  Variant type:
                  INS
                  Alleles:
                  ->A
                  Chromosome:
                  3:143477332
                  Gene:
                  SLC9A9 (Varview)
                  Functional Consequence:
                  intron_variant,genic_downstream_transcript_variant
                  Validated:
                  by frequency,by cluster
                  MAF:
                  A=0.0006/3 (GnomAD)
                  HGVS:
                  NC_000003.12:g.143477331_143477332insA, NC_000003.11:g.143196173_143196174insA, NG_017077.1:g.376200_376201insT
                  9.

                  rs1491539281 has merged into rs1473546864 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    AAAA>AA,AAA
                    Chromosome:
                    3:143449657
                    Gene:
                    SLC9A9 (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,intron_variant
                    Validated:
                    by frequency,by cluster
                    MAF:
                    -=0.0012/4 (GnomAD)
                    HGVS:
                    NC_000003.12:g.143449659_143449660delAA, NC_000003.12:g.143449660delA, NC_000003.11:g.143168501_143168502delAA, NC_000003.11:g.143168502delA, NG_017077.1:g.403874_403875delTT, NG_017077.1:g.403875delT
                    10.

                    rs1491538549 [Homo sapiens]
                      Variant type:
                      INS
                      Alleles:
                      ->TAT
                      Chromosome:
                      3:143788710
                      Gene:
                      SLC9A9 (Varview)
                      Functional Consequence:
                      genic_upstream_transcript_variant,intron_variant
                      HGVS:
                      NC_000003.12:g.143788709_143788710insTAT, NC_000003.11:g.143507551_143507552insTAT, NG_017077.1:g.64822_64823insATA
                      11.

                      rs1491533951 [Homo sapiens]
                        Variant type:
                        INS
                        Alleles:
                        ->TCT
                        Chromosome:
                        3:143396916
                        Gene:
                        SLC9A9 (Varview)
                        Functional Consequence:
                        intron_variant,genic_downstream_transcript_variant
                        Validated:
                        by frequency,by cluster
                        MAF:
                        TCT=0.0000/1 (GnomAD)
                        HGVS:
                        NC_000003.12:g.143396915_143396916insTCT, NC_000003.11:g.143115757_143115758insTCT, NG_017077.1:g.456616_456617insAGA
                        12.

                        rs1491532822 [Homo sapiens]
                          Variant type:
                          DEL
                          Alleles:
                          TT>-
                          Chromosome:
                          3:143449978
                          Gene:
                          SLC9A9 (Varview)
                          Functional Consequence:
                          intron_variant,genic_downstream_transcript_variant
                          HGVS:
                          NC_000003.12:g.143449978_143449979delTT, NC_000003.11:g.143168820_143168821delTT, NG_017077.1:g.403553_403554delAA
                          13.
                          14.

                          rs1491531688 [Homo sapiens]
                            Variant type:
                            DEL
                            Alleles:
                            GT>-
                            Chromosome:
                            3:143276850
                            Gene:
                            SLC9A9 (Varview)
                            Functional Consequence:
                            intron_variant,genic_downstream_transcript_variant
                            Validated:
                            by frequency
                            MAF:
                            -=0.0000/1 (GnomAD)
                            HGVS:
                            NC_000003.12:g.143276850_143276851delGT, NC_000003.11:g.142995692_142995693delGT, NG_017077.1:g.576681_576682delAC
                            15.

                            rs1491518210 has merged into rs200568656 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              TTTTTTTTTTTTTTTTTTTTTTT>TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT
                              Chromosome:
                              3:143425265
                              Gene:
                              SLC9A9 (Varview)
                              Functional Consequence:
                              intron_variant,genic_downstream_transcript_variant
                              Validated:
                              by cluster
                              HGVS:
                              NC_000003.12:g.143425276_143425287delTTTTTTTTTTTT, NC_000003.12:g.143425277_143425287delTTTTTTTTTTT, NC_000003.12:g.143425278_143425287delTTTTTTTTTT, NC_000003.12:g.143425280_143425287delTTTTTTTT, NC_000003.12:g.143425281_143425287delTTTTTTT, NC_000003.12:g.143425282_143425287delTTTTTT, NC_000003.12:g.143425283_143425287delTTTTT, NC_000003.12:g.143425284_143425287delTTTT, NC_000003.12:g.143425285_143425287delTTT, NC_000003.12:g.143425286_143425287delTT, NC_000003.12:g.143425287delT, NC_000003.12:g.143425287dup, NC_000003.12:g.143425286_143425287dup, NC_000003.12:g.143425284_143425287dup, NC_000003.11:g.143144118_143144129delTTTTTTTTTTTT, NC_000003.11:g.143144119_143144129delTTTTTTTTTTT, NC_000003.11:g.143144120_143144129delTTTTTTTTTT, NC_000003.11:g.143144122_143144129delTTTTTTTT, NC_000003.11:g.143144123_143144129delTTTTTTT, NC_000003.11:g.143144124_143144129delTTTTTT, NC_000003.11:g.143144125_143144129delTTTTT, NC_000003.11:g.143144126_143144129delTTTT, NC_000003.11:g.143144127_143144129delTTT, NC_000003.11:g.143144128_143144129delTT, NC_000003.11:g.143144129delT, NC_000003.11:g.143144129dup, NC_000003.11:g.143144128_143144129dup, NC_000003.11:g.143144126_143144129dup, NG_017077.1:g.428256_428267delAAAAAAAAAAAA, NG_017077.1:g.428257_428267delAAAAAAAAAAA, NG_017077.1:g.428258_428267delAAAAAAAAAA, NG_017077.1:g.428260_428267delAAAAAAAA, NG_017077.1:g.428261_428267delAAAAAAA, NG_017077.1:g.428262_428267delAAAAAA, NG_017077.1:g.428263_428267delAAAAA, NG_017077.1:g.428264_428267delAAAA, NG_017077.1:g.428265_428267delAAA, NG_017077.1:g.428266_428267delAA, NG_017077.1:g.428267delA, NG_017077.1:g.428267dup, NG_017077.1:g.428266_428267dup, NG_017077.1:g.428264_428267dup
                              16.

                              rs1491517718 has merged into rs1343299667 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                TATATATAT>TATATAT,TATATATATAT
                                Chromosome:
                                3:143449790
                                Gene:
                                SLC9A9 (Varview)
                                Functional Consequence:
                                intron_variant,genic_downstream_transcript_variant
                                Validated:
                                by frequency,by cluster
                                MAF:
                                TA=0.0001/1 (GnomAD)
                                HGVS:
                                NC_000003.12:g.143449791_143449792AT[3], NC_000003.12:g.143449791_143449792AT[5], NC_000003.11:g.143168633_143168634AT[3], NC_000003.11:g.143168633_143168634AT[5], NG_017077.1:g.403735_403736TA[3], NG_017077.1:g.403735_403736TA[5]
                                17.

                                rs1491487735 [Homo sapiens]
                                  Variant type:
                                  DEL
                                  Alleles:
                                  TG>-
                                  Chromosome:
                                  3:143267366
                                  Gene:
                                  SLC9A9 (Varview)
                                  Functional Consequence:
                                  intron_variant,genic_downstream_transcript_variant
                                  HGVS:
                                  NC_000003.12:g.143267366_143267367delTG, NC_000003.11:g.142986208_142986209delTG, NG_017077.1:g.586165_586166delCA
                                  18.

                                  rs1491458746 [Homo sapiens]
                                    Variant type:
                                    INS
                                    Alleles:
                                    ->C
                                    Chromosome:
                                    3:143699333
                                    Gene:
                                    SLC9A9 (Varview)
                                    Functional Consequence:
                                    genic_upstream_transcript_variant,intron_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    C=0.0000/2 (TOPMED)
                                    HGVS:
                                    NC_000003.12:g.143699332_143699333insC, NC_000003.11:g.143418174_143418175insC, NG_017077.1:g.154199_154200insG
                                    19.

                                    rs1491440144 [Homo sapiens]
                                      Variant type:
                                      DEL
                                      Alleles:
                                      AA>-
                                      Chromosome:
                                      3:143539876
                                      Gene:
                                      SLC9A9 (Varview)
                                      Functional Consequence:
                                      intron_variant,genic_downstream_transcript_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      -=0.0000/1 (TOPMED)
                                      HGVS:
                                      NC_000003.12:g.143539876_143539877delAA, NC_000003.11:g.143258718_143258719delAA, NG_017077.1:g.313655_313656delTT
                                      20.

                                      rs1491439197 [Homo sapiens]
                                        Variant type:
                                        DEL
                                        Alleles:
                                        AT>-
                                        Chromosome:
                                        3:143280542
                                        Gene:
                                        SLC9A9 (Varview)
                                        Functional Consequence:
                                        downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
                                        HGVS:
                                        NC_000003.12:g.143280542_143280543delAT, NC_000003.11:g.142999384_142999385delAT, NG_017077.1:g.572989_572990delAT

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