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Links from Gene

Items: 1 to 20 of 13047

1.

rs1491364255 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->CA [Show Flanks]
    Chromosome:
    3:3800140 (GRCh38)
    3:3841825 (GRCh37)
    Canonical SPDI:
    NC_000003.12:3800140:A:ACA
    Gene:
    LRRN1 (Varview), LOC100130207 (Varview)
    Functional Consequence:
    intron_variant,genic_upstream_transcript_variant
    Validated:
    by frequency
    MAF:
    AC=0.0001/1 (GnomAD)
    HGVS:
    2.

    rs1491289880 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      CA>- [Show Flanks]
      Chromosome:
      3:3800139 (GRCh38)
      3:3841823 (GRCh37)
      Canonical SPDI:
      NC_000003.12:3800138:CA:
      Gene:
      LRRN1 (Varview), LOC100130207 (Varview)
      Functional Consequence:
      intron_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      -=0./0 (ALFA)
      HGVS:
      3.

      rs1491270250 has merged into rs5846290 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        AAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA [Show Flanks]
        Chromosome:
        3:3800149 (GRCh38)
        3:3841833 (GRCh37)
        Canonical SPDI:
        NC_000003.12:3800139:AAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000003.12:3800139:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:3800139:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:3800139:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:3800139:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:3800139:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:3800139:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:3800139:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:3800139:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:3800139:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
        Gene:
        LRRN1 (Varview), LOC100130207 (Varview)
        Functional Consequence:
        intron_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        AAAAAAAAAAAAA=0./0 (ALFA)
        -=0.0642/24 (NorthernSweden)
        -=0.0893/344 (ALSPAC)
        -=0.2843/1424 (1000Genomes)
        -=0.4/16 (GENOME_DK)
        HGVS:
        4.

        rs1491086724 has merged into rs35514612 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          CC>-,C,CCC,CCCC,CCCCCC,CCCCCCC,CCCCCCCC [Show Flanks]
          Chromosome:
          3:3837340 (GRCh38)
          3:3879024 (GRCh37)
          Canonical SPDI:
          NC_000003.12:3837332:CCCCCCCCC:CCCCCCC,NC_000003.12:3837332:CCCCCCCCC:CCCCCCCC,NC_000003.12:3837332:CCCCCCCCC:CCCCCCCCCC,NC_000003.12:3837332:CCCCCCCCC:CCCCCCCCCCC,NC_000003.12:3837332:CCCCCCCCC:CCCCCCCCCCCCC,NC_000003.12:3837332:CCCCCCCCC:CCCCCCCCCCCCCC,NC_000003.12:3837332:CCCCCCCCC:CCCCCCCCCCCCCCC
          Gene:
          LRRN1 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          CCCCCCCCCC=0./0 (ALFA)
          C=0.075/3 (GENOME_DK)
          C=0.1133/68 (NorthernSweden)
          C=0.1154/517 (Estonian)
          C=0.1292/498 (ALSPAC)
          C=0.1297/481 (TWINSUK)
          C=0.1635/791 (1000Genomes)
          HGVS:
          5.

          rs1491009054 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            GA>- [Show Flanks]
            Chromosome:
            3:3812834 (GRCh38)
            3:3854518 (GRCh37)
            Canonical SPDI:
            NC_000003.12:3812832:AGA:A
            Gene:
            LRRN1 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0.000084/1 (ALFA)
            -=0.000014/2 (GnomAD)
            HGVS:
            6.

            rs1490981380 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              3:3807734 (GRCh38)
              3:3849418 (GRCh37)
              Canonical SPDI:
              NC_000003.12:3807733:A:G
              Gene:
              LRRN1 (Varview)
              Functional Consequence:
              intron_variant,genic_upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000007/1 (GnomAD)
              G=0.000015/4 (TOPMED)
              HGVS:
              7.

              rs1490915483 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                3:3842906 (GRCh38)
                3:3884590 (GRCh37)
                Canonical SPDI:
                NC_000003.12:3842905:G:A
                Gene:
                LRRN1 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000015/4 (TOPMED)
                A=0.000021/3 (GnomAD)
                HGVS:
                8.

                rs1490912817 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C [Show Flanks]
                  Chromosome:
                  3:3817936 (GRCh38)
                  3:3859620 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:3817935:A:C
                  Gene:
                  LRRN1 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0.000462/7 (ALFA)
                  C=0.000004/1 (TOPMED)
                  C=0.000064/9 (GnomAD)
                  C=0.001563/7 (Estonian)
                  HGVS:
                  9.

                  rs1490840699 [Homo sapiens]
                    Variant type:
                    SNV:
                    Alleles:
                    G>C
                    Chromosome:
                    no mapping
                    Canonical SPDI:
                    10.

                    rs1490773655 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>C [Show Flanks]
                      Chromosome:
                      3:3836023 (GRCh38)
                      3:3877707 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:3836022:A:C
                      Gene:
                      LRRN1 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1490697107 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>C [Show Flanks]
                        Chromosome:
                        3:3835075 (GRCh38)
                        3:3876759 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:3835074:A:C
                        Gene:
                        LRRN1 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1490657500 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          3:3849982 (GRCh38)
                          3:3891666 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:3849981:G:A
                          Gene:
                          LRRN1 (Varview)
                          Functional Consequence:
                          downstream_transcript_variant,500B_downstream_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000021/3 (GnomAD)
                          A=0.000023/6 (TOPMED)
                          HGVS:
                          13.

                          rs1490622131 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            3:3829487 (GRCh38)
                            3:3871171 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:3829486:T:C
                            Gene:
                            LRRN1 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (TOPMED)
                            C=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1490548116 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>G [Show Flanks]
                              Chromosome:
                              3:3800321 (GRCh38)
                              3:3842005 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:3800320:T:G
                              Gene:
                              LRRN1 (Varview), LOC100130207 (Varview)
                              Functional Consequence:
                              intron_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              HGVS:
                              15.

                              rs1490493111 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>C [Show Flanks]
                                Chromosome:
                                3:3808176 (GRCh38)
                                3:3849860 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:3808175:A:C
                                Gene:
                                LRRN1 (Varview)
                                Functional Consequence:
                                intron_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1490436613 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  3:3807229 (GRCh38)
                                  3:3848913 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:3807228:T:C
                                  Gene:
                                  LRRN1 (Varview)
                                  Functional Consequence:
                                  intron_variant,genic_upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1490423038 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    T>- [Show Flanks]
                                    Chromosome:
                                    3:3816957 (GRCh38)
                                    3:3858641 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:3816956:TT:T
                                    Gene:
                                    LRRN1 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    -=0.000021/3 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1490260266 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>C [Show Flanks]
                                      Chromosome:
                                      3:3822785 (GRCh38)
                                      3:3864469 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:3822784:G:C
                                      Gene:
                                      LRRN1 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000011/3 (TOPMED)
                                      C=0.000014/2 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1490220493 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        GT>- [Show Flanks]
                                        Chromosome:
                                        3:3835409 (GRCh38)
                                        3:3877093 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:3835404:GTGTGT:GTGT
                                        Gene:
                                        LRRN1 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        GTGT=0./0 (ALFA)
                                        -=0.000004/1 (TOPMED)
                                        -=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1490109564 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          3:3828980 (GRCh38)
                                          3:3870664 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:3828979:T:C
                                          Gene:
                                          LRRN1 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000008/2 (TOPMED)
                                          C=0.000016/2 (GnomAD)
                                          HGVS:

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