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Links from Gene

Items: 1 to 20 of 837

1.

rs1490967343 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>C [Show Flanks]
    Chromosome:
    4:9368491 (GRCh38)
    4:9370217 (GRCh37)
    Canonical SPDI:
    NC_000004.12:9368490:G:C
    Gene:
    USP17L6P (Varview)
    Functional Consequence:
    non_coding_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0.00163/20 (ALFA)
    C=0.00017/8 (GnomAD_exomes)
    C=0.00054/6 (TOMMO)
    C=0.00606/14 (KOREAN)
    HGVS:
    2.

    rs1490856876 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A,T [Show Flanks]
      Chromosome:
      4:9369265 (GRCh38)
      4:9370991 (GRCh37)
      Canonical SPDI:
      NC_000004.12:9369264:C:A,NC_000004.12:9369264:C:T
      Gene:
      USP17L6P (Varview)
      Functional Consequence:
      500B_downstream_variant,downstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      A=0.000008/2 (TOPMED)
      T=0.000014/2 (GnomAD)
      HGVS:
      3.

      rs1490475476 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>T [Show Flanks]
        Chromosome:
        4:9368115 (GRCh38)
        4:9369841 (GRCh37)
        Canonical SPDI:
        NC_000004.12:9368114:G:T
        Gene:
        USP17L6P (Varview)
        Functional Consequence:
        non_coding_transcript_variant
        HGVS:
        4.

        rs1489427674 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>A [Show Flanks]
          Chromosome:
          4:9369273 (GRCh38)
          4:9370999 (GRCh37)
          Canonical SPDI:
          NC_000004.12:9369272:T:A
          Gene:
          USP17L6P (Varview)
          Functional Consequence:
          500B_downstream_variant,downstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (TOPMED)
          HGVS:
          5.

          rs1488888316 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            4:9369384 (GRCh38)
            4:9371110 (GRCh37)
            Canonical SPDI:
            NC_000004.12:9369383:T:C
            Gene:
            USP17L6P (Varview)
            Functional Consequence:
            500B_downstream_variant,downstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000008/2 (TOPMED)
            HGVS:
            6.

            rs1487865720 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>C,T [Show Flanks]
              Chromosome:
              4:9369495 (GRCh38)
              4:9371221 (GRCh37)
              Canonical SPDI:
              NC_000004.12:9369494:G:C,NC_000004.12:9369494:G:T
              Gene:
              USP17L6P (Varview)
              Functional Consequence:
              500B_downstream_variant,downstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.00004/1 (TOMMO)
              HGVS:
              7.

              rs1487703707 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                4:9368573 (GRCh38)
                4:9370299 (GRCh37)
                Canonical SPDI:
                NC_000004.12:9368572:C:T
                Gene:
                USP17L6P (Varview)
                Functional Consequence:
                non_coding_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0.00064/1 (ALFA)
                T=0.00002/1 (GnomAD_exomes)
                HGVS:
                8.

                rs1487052619 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C,G [Show Flanks]
                  Chromosome:
                  4:9369546 (GRCh38)
                  4:9371272 (GRCh37)
                  Canonical SPDI:
                  NC_000004.12:9369545:T:C,NC_000004.12:9369545:T:G
                  Gene:
                  USP17L6P (Varview)
                  Functional Consequence:
                  downstream_transcript_variant,500B_downstream_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  C=0.000004/1 (TOPMED)
                  G=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1486944816 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>T [Show Flanks]
                    Chromosome:
                    4:9368799 (GRCh38)
                    4:9370525 (GRCh37)
                    Canonical SPDI:
                    NC_000004.12:9368798:A:T
                    Gene:
                    USP17L6P (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant
                    HGVS:
                    10.

                    rs1484623281 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G,T [Show Flanks]
                      Chromosome:
                      4:9369049 (GRCh38)
                      4:9370775 (GRCh37)
                      Canonical SPDI:
                      NC_000004.12:9369048:A:G,NC_000004.12:9369048:A:T
                      Gene:
                      USP17L6P (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0./0 (ALFA)
                      T=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      11.

                      rs1483639714 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        4:9368918 (GRCh38)
                        4:9370644 (GRCh37)
                        Canonical SPDI:
                        NC_000004.12:9368917:A:G
                        Gene:
                        USP17L6P (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant
                        Validated:
                        by frequency
                        MAF:
                        G=0.000012/2 (GnomAD_exomes)
                        HGVS:
                        12.

                        rs1483012299 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A,T [Show Flanks]
                          Chromosome:
                          4:9369359 (GRCh38)
                          4:9371085 (GRCh37)
                          Canonical SPDI:
                          NC_000004.12:9369358:G:A,NC_000004.12:9369358:G:T
                          Gene:
                          USP17L6P (Varview)
                          Functional Consequence:
                          downstream_transcript_variant,500B_downstream_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000029/4 (GnomAD)
                          T=0.000034/9 (TOPMED)
                          T=0.000342/1 (KOREAN)
                          T=0.000546/1 (Korea1K)
                          HGVS:
                          13.

                          rs1482882652 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G,T [Show Flanks]
                            Chromosome:
                            4:9369053 (GRCh38)
                            4:9370779 (GRCh37)
                            Canonical SPDI:
                            NC_000004.12:9369052:C:G,NC_000004.12:9369052:C:T
                            Gene:
                            USP17L6P (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000009/2 (GnomAD_exomes)
                            HGVS:
                            14.

                            rs1482857617 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>C,T [Show Flanks]
                              Chromosome:
                              4:9369488 (GRCh38)
                              4:9371214 (GRCh37)
                              Canonical SPDI:
                              NC_000004.12:9369487:G:C,NC_000004.12:9369487:G:T
                              Gene:
                              USP17L6P (Varview)
                              Functional Consequence:
                              downstream_transcript_variant,500B_downstream_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              C=0.000014/2 (GnomAD)
                              HGVS:
                              15.

                              rs1482261030 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                4:9368697 (GRCh38)
                                4:9370423 (GRCh37)
                                Canonical SPDI:
                                NC_000004.12:9368696:T:C
                                Gene:
                                USP17L6P (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant
                                Validated:
                                by frequency
                                MAF:
                                C=0.00003/2 (GnomAD_exomes)
                                HGVS:
                                16.

                                rs1482013133 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  4:9368954 (GRCh38)
                                  4:9370680 (GRCh37)
                                  Canonical SPDI:
                                  NC_000004.12:9368953:T:C
                                  Gene:
                                  USP17L6P (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant
                                  HGVS:
                                  17.

                                  rs1481621856 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    4:9368421 (GRCh38)
                                    4:9370147 (GRCh37)
                                    Canonical SPDI:
                                    NC_000004.12:9368420:T:C
                                    Gene:
                                    USP17L6P (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant
                                    Validated:
                                    by cluster
                                    HGVS:
                                    18.

                                    rs1478645525 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A,T [Show Flanks]
                                      Chromosome:
                                      4:9369391 (GRCh38)
                                      4:9371117 (GRCh37)
                                      Canonical SPDI:
                                      NC_000004.12:9369390:G:A,NC_000004.12:9369390:G:T
                                      Gene:
                                      USP17L6P (Varview)
                                      Functional Consequence:
                                      downstream_transcript_variant,500B_downstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000036/5 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1478505637 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A,T [Show Flanks]
                                        Chromosome:
                                        4:9368765 (GRCh38)
                                        4:9370491 (GRCh37)
                                        Canonical SPDI:
                                        NC_000004.12:9368764:C:A,NC_000004.12:9368764:C:T
                                        Gene:
                                        USP17L6P (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0.001041/17 (ALFA)
                                        A=0.000108/15 (GnomAD)
                                        A=0.001562/10 (1000Genomes)
                                        A=0.005476/16 (KOREAN)
                                        A=0.008422/238 (TOMMO)
                                        C=0.5/1 (SGDP_PRJ)
                                        HGVS:
                                        20.

                                        rs1477075818 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A,C,T [Show Flanks]
                                          Chromosome:
                                          4:9369175 (GRCh38)
                                          4:9370901 (GRCh37)
                                          Canonical SPDI:
                                          NC_000004.12:9369174:G:A,NC_000004.12:9369174:G:C,NC_000004.12:9369174:G:T
                                          Gene:
                                          USP17L6P (Varview)
                                          Functional Consequence:
                                          downstream_transcript_variant,500B_downstream_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          HGVS:

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