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Links from Gene

Items: 1 to 20 of 1412

1.

rs1491275595 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->AAGAAAA [Show Flanks]
    Chromosome:
    7:132259481 (GRCh38)
    7:131944241 (GRCh37)
    Canonical SPDI:
    NC_000007.14:132259481:GAAAAAAGAAAA:GAAAAAAGAAAAAAGAAAA
    Gene:
    PLXNA4 (Varview), LOC101928807 (Varview)
    Functional Consequence:
    2KB_upstream_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    GAAAAAAGAAAAAAGAAAA=0./0 (ALFA)
    GAAAAAA=0.000004/1 (TOPMED)
    HGVS:
    2.

    rs1490593641 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>C [Show Flanks]
      Chromosome:
      7:132259572 (GRCh38)
      7:131944331 (GRCh37)
      Canonical SPDI:
      NC_000007.14:132259571:G:C
      Gene:
      PLXNA4 (Varview), LOC101928807 (Varview)
      Functional Consequence:
      2KB_upstream_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0.000071/1 (ALFA)
      C=0.000004/1 (TOPMED)
      HGVS:
      3.

      rs1490557555 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A,G [Show Flanks]
        Chromosome:
        7:132260610 (GRCh38)
        7:131945369 (GRCh37)
        Canonical SPDI:
        NC_000007.14:132260609:C:A,NC_000007.14:132260609:C:G
        Gene:
        PLXNA4 (Varview), LOC101928807 (Varview)
        Functional Consequence:
        2KB_upstream_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        A=0./0 (GnomAD)
        G=0.000008/2 (TOPMED)
        HGVS:
        4.

        rs1490337111 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          7:132260542 (GRCh38)
          7:131945301 (GRCh37)
          Canonical SPDI:
          NC_000007.14:132260541:G:A
          Gene:
          PLXNA4 (Varview), LOC101928807 (Varview)
          Functional Consequence:
          2KB_upstream_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          A=0.00007/1 (ALFA)
          HGVS:
          5.

          rs1490202294 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            7:132258991 (GRCh38)
            7:131943750 (GRCh37)
            Canonical SPDI:
            NC_000007.14:132258990:C:T
            Gene:
            PLXNA4 (Varview), LOC101928807 (Varview)
            Functional Consequence:
            2KB_upstream_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            HGVS:
            6.

            rs1489103813 has merged into rs1306968226 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              T>-,TT [Show Flanks]
              Chromosome:
              7:132258898 (GRCh38)
              7:131943657 (GRCh37)
              Canonical SPDI:
              NC_000007.14:132258897:TTT:TT,NC_000007.14:132258897:TTT:TTTT
              Gene:
              PLXNA4 (Varview), LOC101928807 (Varview)
              Functional Consequence:
              intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              TTTT=0./0 (ALFA)
              -=0.000008/2 (TOPMED)
              HGVS:
              7.

              rs1488828939 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>C [Show Flanks]
                Chromosome:
                7:132260784 (GRCh38)
                7:131945543 (GRCh37)
                Canonical SPDI:
                NC_000007.14:132260783:G:C
                Gene:
                PLXNA4 (Varview), LOC101928807 (Varview)
                Functional Consequence:
                2KB_upstream_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000007/1 (GnomAD)
                C=0.000034/9 (TOPMED)
                C=0.000035/1 (TOMMO)
                C=0.000684/2 (KOREAN)
                HGVS:
                8.

                rs1488340255 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>A [Show Flanks]
                  Chromosome:
                  7:132260675 (GRCh38)
                  7:131945434 (GRCh37)
                  Canonical SPDI:
                  NC_000007.14:132260674:T:A
                  Gene:
                  PLXNA4 (Varview), LOC101928807 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0.00074/12 (ALFA)
                  HGVS:
                  9.

                  rs1488183062 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    7:132262825 (GRCh38)
                    7:131947584 (GRCh37)
                    Canonical SPDI:
                    NC_000007.14:132262824:G:A
                    Gene:
                    PLXNA4 (Varview), LOC101928807 (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0.000084/1 (ALFA)
                    A=0.000043/6 (GnomAD)
                    A=0.000057/15 (TOPMED)
                    HGVS:
                    10.

                    rs1488140787 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>A [Show Flanks]
                      Chromosome:
                      7:132264134 (GRCh38)
                      7:131948893 (GRCh37)
                      Canonical SPDI:
                      NC_000007.14:132264133:T:A
                      Gene:
                      PLXNA4 (Varview), LOC101928807 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0./0 (ALFA)
                      A=0.00003/8 (TOPMED)
                      HGVS:
                      11.

                      rs1486876561 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>C [Show Flanks]
                        Chromosome:
                        7:132259124 (GRCh38)
                        7:131943883 (GRCh37)
                        Canonical SPDI:
                        NC_000007.14:132259123:G:C
                        Gene:
                        PLXNA4 (Varview), LOC101928807 (Varview)
                        Functional Consequence:
                        intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000007/1 (GnomAD)
                        C=0.000142/2 (TOMMO)
                        C=0.000684/2 (KOREAN)
                        HGVS:
                        12.

                        rs1485986652 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A,C [Show Flanks]
                          Chromosome:
                          7:132263633 (GRCh38)
                          7:131948392 (GRCh37)
                          Canonical SPDI:
                          NC_000007.14:132263632:G:A,NC_000007.14:132263632:G:C
                          Gene:
                          PLXNA4 (Varview), LOC101928807 (Varview)
                          Functional Consequence:
                          intron_variant,genic_downstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000004/1 (TOPMED)
                          HGVS:
                          13.

                          rs1485959040 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            7:132263513 (GRCh38)
                            7:131948272 (GRCh37)
                            Canonical SPDI:
                            NC_000007.14:132263512:T:C
                            Gene:
                            PLXNA4 (Varview), LOC101928807 (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=0.000014/2 (GnomAD)
                            HGVS:
                            14.

                            rs1485759234 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A,T [Show Flanks]
                              Chromosome:
                              7:132262772 (GRCh38)
                              7:131947531 (GRCh37)
                              Canonical SPDI:
                              NC_000007.14:132262771:G:A,NC_000007.14:132262771:G:T
                              Gene:
                              PLXNA4 (Varview), LOC101928807 (Varview)
                              Functional Consequence:
                              intron_variant,genic_downstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1484780691 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                7:132262317 (GRCh38)
                                7:131947076 (GRCh37)
                                Canonical SPDI:
                                NC_000007.14:132262316:A:G
                                Gene:
                                PLXNA4 (Varview), LOC101928807 (Varview)
                                Functional Consequence:
                                intron_variant,genic_downstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000014/2 (GnomAD)
                                G=0.000015/4 (TOPMED)
                                HGVS:
                                16.

                                rs1484200127 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  7:132260510 (GRCh38)
                                  7:131945269 (GRCh37)
                                  Canonical SPDI:
                                  NC_000007.14:132260509:A:G
                                  Gene:
                                  PLXNA4 (Varview), LOC101928807 (Varview)
                                  Functional Consequence:
                                  intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000011/3 (TOPMED)
                                  G=0.000014/2 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1484041825 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A [Show Flanks]
                                    Chromosome:
                                    7:132260264 (GRCh38)
                                    7:131945023 (GRCh37)
                                    Canonical SPDI:
                                    NC_000007.14:132260263:C:A
                                    Gene:
                                    PLXNA4 (Varview), LOC101928807 (Varview)
                                    Functional Consequence:
                                    intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.00005/7 (GnomAD)
                                    A=0.000098/26 (TOPMED)
                                    A=0.000177/3 (TOMMO)
                                    A=0.000312/2 (1000Genomes)
                                    A=0.001711/5 (KOREAN)
                                    HGVS:
                                    18.

                                    rs1483999068 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      7:132261479 (GRCh38)
                                      7:131946238 (GRCh37)
                                      Canonical SPDI:
                                      NC_000007.14:132261478:A:G
                                      Gene:
                                      PLXNA4 (Varview), LOC101928807 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000007/1 (GnomAD)
                                      G=0.000019/5 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1483950859 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G,T [Show Flanks]
                                        Chromosome:
                                        7:132259464 (GRCh38)
                                        7:131944223 (GRCh37)
                                        Canonical SPDI:
                                        NC_000007.14:132259463:A:G,NC_000007.14:132259463:A:T
                                        Gene:
                                        PLXNA4 (Varview), LOC101928807 (Varview)
                                        Functional Consequence:
                                        intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        HGVS:
                                        20.

                                        rs1483532910 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          7:132264658 (GRCh38)
                                          7:131949417 (GRCh37)
                                          Canonical SPDI:
                                          NC_000007.14:132264657:C:T
                                          Gene:
                                          PLXNA4 (Varview), LOC101928807 (Varview)
                                          Functional Consequence:
                                          intron_variant,downstream_transcript_variant,500B_downstream_variant,genic_downstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000007/1 (GnomAD)
                                          HGVS:

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