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Links from Gene

Items: 1 to 20 of 1000

1.

rs1490996218 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    12:58873881 (GRCh38)
    12:59267663 (GRCh37)
    Canonical SPDI:
    NC_000012.12:58873880:C:T
    Gene:
    LRIG3 (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)
    T=0.000007/1 (GnomAD)
    HGVS:
    2.

    rs1490978530 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      12:58915585 (GRCh38)
      12:59309366 (GRCh37)
      Canonical SPDI:
      NC_000012.12:58915584:A:G
      Gene:
      LRIG3 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000029/4 (GnomAD)
      G=0.000045/12 (TOPMED)
      G=0.000318/5 (TOMMO)
      G=0.000546/1 (Korea1K)
      G=0.000684/2 (KOREAN)
      HGVS:
      3.

      rs1490913812 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        12:58913694 (GRCh38)
        12:59307475 (GRCh37)
        Canonical SPDI:
        NC_000012.12:58913693:G:A
        Gene:
        LRIG3 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        A=0./0 (ALFA)
        A=0.000004/1 (TOPMED)
        HGVS:
        4.

        rs1490656204 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          12:58920323 (GRCh38)
          12:59314104 (GRCh37)
          Canonical SPDI:
          NC_000012.12:58920322:C:T
          Gene:
          LRIG3 (Varview), LRIG3-DT (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000008/2 (TOPMED)
          T=0.000014/2 (GnomAD)
          HGVS:
          5.

          rs1490652491 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A [Show Flanks]
            Chromosome:
            12:58896554 (GRCh38)
            12:59290335 (GRCh37)
            Canonical SPDI:
            NC_000012.12:58896553:C:A
            Gene:
            LRIG3 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0./0 (ALFA)
            A=0.000014/2 (GnomAD)
            HGVS:
            6.

            rs1490604823 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A [Show Flanks]
              Chromosome:
              12:58920987 (GRCh38)
              12:59314768 (GRCh37)
              Canonical SPDI:
              NC_000012.12:58920986:C:A
              Gene:
              LRIG3 (Varview), LRIG3-DT (Varview)
              Functional Consequence:
              intron_variant,2KB_upstream_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (TOPMED)
              A=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1490592205 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                12:58878834 (GRCh38)
                12:59272616 (GRCh37)
                Canonical SPDI:
                NC_000012.12:58878833:C:T
                Gene:
                LRIG3 (Varview)
                Functional Consequence:
                coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
                Validated:
                by frequency
                MAF:
                T=0.000004/1 (GnomAD_exomes)
                HGVS:
                8.

                rs1490587169 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  12:58904964 (GRCh38)
                  12:59298745 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:58904963:T:C
                  Gene:
                  LRIG3 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0.000071/1 (ALFA)
                  C=0.000007/1 (GnomAD)
                  C=0.000011/3 (TOPMED)
                  HGVS:
                  9.

                  rs1490540131 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>A [Show Flanks]
                    Chromosome:
                    12:58905883 (GRCh38)
                    12:59299664 (GRCh37)
                    Canonical SPDI:
                    NC_000012.12:58905882:T:A
                    Gene:
                    LRIG3 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000004/1 (TOPMED)
                    HGVS:
                    10.

                    rs1490391071 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>G [Show Flanks]
                      Chromosome:
                      12:58872264 (GRCh38)
                      12:59266046 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:58872263:T:G
                      Gene:
                      LRIG3 (Varview)
                      Functional Consequence:
                      3_prime_UTR_variant,genic_downstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000011/3 (TOPMED)
                      HGVS:
                      11.

                      rs1490346695 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>C [Show Flanks]
                        Chromosome:
                        12:58907735 (GRCh38)
                        12:59301516 (GRCh37)
                        Canonical SPDI:
                        NC_000012.12:58907734:G:C
                        Gene:
                        LRIG3 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000019/5 (TOPMED)
                        C=0.000029/4 (GnomAD)
                        HGVS:
                        12.

                        rs1490247106 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          12:58891215 (GRCh38)
                          12:59284997 (GRCh37)
                          Canonical SPDI:
                          NC_000012.12:58891214:A:G
                          Gene:
                          LRIG3 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0.000071/1 (ALFA)
                          G=0.000007/1 (GnomAD)
                          G=0.000011/3 (TOPMED)
                          HGVS:
                          13.

                          rs1490191401 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A,C [Show Flanks]
                            Chromosome:
                            12:58892388 (GRCh38)
                            12:59286170 (GRCh37)
                            Canonical SPDI:
                            NC_000012.12:58892387:G:A,NC_000012.12:58892387:G:C
                            Gene:
                            LRIG3 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000008/2 (TOPMED)
                            A=0.000035/1 (TOMMO)
                            HGVS:
                            14.

                            rs1490158649 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>G [Show Flanks]
                              Chromosome:
                              12:58916616 (GRCh38)
                              12:59310397 (GRCh37)
                              Canonical SPDI:
                              NC_000012.12:58916615:T:G
                              Gene:
                              LRIG3 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000029/4 (GnomAD)
                              G=0.000079/21 (TOPMED)
                              HGVS:
                              15.

                              rs1490059315 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>T [Show Flanks]
                                Chromosome:
                                12:58879845 (GRCh38)
                                12:59273627 (GRCh37)
                                Canonical SPDI:
                                NC_000012.12:58879844:G:T
                                Gene:
                                LRIG3 (Varview)
                                Functional Consequence:
                                downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                HGVS:
                                16.

                                rs1490011688 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>C [Show Flanks]
                                  Chromosome:
                                  12:58883358 (GRCh38)
                                  12:59277140 (GRCh37)
                                  Canonical SPDI:
                                  NC_000012.12:58883357:A:C
                                  Gene:
                                  LRIG3 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000008/2 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1489993494 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    12:58872857 (GRCh38)
                                    12:59266639 (GRCh37)
                                    Canonical SPDI:
                                    NC_000012.12:58872856:T:C
                                    Gene:
                                    LRIG3 (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=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1489873979 [Homo sapiens]
                                      Variant type:
                                      SNV:
                                      Alleles:
                                      A>T
                                      Chromosome:
                                      no mapping
                                      Canonical SPDI:
                                      19.

                                      rs1489858921 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        12:58897545 (GRCh38)
                                        12:59291326 (GRCh37)
                                        Canonical SPDI:
                                        NC_000012.12:58897544:A:G
                                        Gene:
                                        LRIG3 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000026/7 (TOPMED)
                                        G=0.000036/5 (GnomAD)
                                        G=0.000156/1 (1000Genomes)
                                        HGVS:
                                        20.

                                        rs1489773782 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          12:58917977 (GRCh38)
                                          12:59311758 (GRCh37)
                                          Canonical SPDI:
                                          NC_000012.12:58917976:G:A
                                          Gene:
                                          LRIG3 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000007/1 (GnomAD)
                                          A=0.000011/3 (TOPMED)
                                          HGVS:

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