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Links from Gene

Items: 1 to 20 of 7171

1.

rs1491339133 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->TG [Show Flanks]
    Chromosome:
    14:51358595 (GRCh38)
    14:51825314 (GRCh37)
    Canonical SPDI:
    NC_000014.9:51358595:G:GTG
    Gene:
    LINC00640 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    GTG=0./0 (ALFA)
    GT=0.00006/3 (GnomAD)
    GT=0.00007/2 (TOMMO)
    HGVS:
    2.

    rs1491290597 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->ATGTGTGTGTGTGT [Show Flanks]
      Chromosome:
      14:51365695 (GRCh38)
      14:51832414 (GRCh37)
      Canonical SPDI:
      NC_000014.9:51365695:TGTGTGTGTGTGT:TGTGTGTGTGTGTATGTGTGTGTGTGT
      Gene:
      LINC00640 (Varview)
      Functional Consequence:
      500B_downstream_variant,downstream_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      TGTGTGTGTGTGTATGTGTGTGTGTGT=0./0 (ALFA)
      TGTGTGTGTGTGTA=0.000009/1 (GnomAD)
      HGVS:
      3.

      rs1491263163 has merged into rs11335873 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        AAAAAAAAAAAAA>-,A,AA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
        Chromosome:
        14:51356917 (GRCh38)
        14:51823635 (GRCh37)
        Canonical SPDI:
        NC_000014.9:51356906:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000014.9:51356906:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000014.9:51356906:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000014.9:51356906:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:51356906:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000014.9:51356906:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:51356906:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000014.9:51356906:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000014.9:51356906:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:51356906:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:51356906:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:51356906:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:51356906:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:51356906:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:51356906:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:51356906:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:51356906:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:51356906:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
        Gene:
        LINC00640 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        AAAAAAAAAAA=0./0 (ALFA)
        -=0.1356/679 (1000Genomes)
        HGVS:
        NC_000014.9:g.51356917_51356929del, NC_000014.9:g.51356918_51356929del, NC_000014.9:g.51356919_51356929del, NC_000014.9:g.51356924_51356929del, NC_000014.9:g.51356925_51356929del, NC_000014.9:g.51356926_51356929del, NC_000014.9:g.51356927_51356929del, NC_000014.9:g.51356928_51356929del, NC_000014.9:g.51356929del, NC_000014.9:g.51356929dup, NC_000014.9:g.51356928_51356929dup, NC_000014.9:g.51356927_51356929dup, NC_000014.9:g.51356926_51356929dup, NC_000014.9:g.51356925_51356929dup, NC_000014.9:g.51356924_51356929dup, NC_000014.9:g.51356923_51356929dup, NC_000014.9:g.51356922_51356929dup, NC_000014.9:g.51356917_51356929dup, NC_000014.8:g.51823635_51823647del, NC_000014.8:g.51823636_51823647del, NC_000014.8:g.51823637_51823647del, NC_000014.8:g.51823642_51823647del, NC_000014.8:g.51823643_51823647del, NC_000014.8:g.51823644_51823647del, NC_000014.8:g.51823645_51823647del, NC_000014.8:g.51823646_51823647del, NC_000014.8:g.51823647del, NC_000014.8:g.51823647dup, NC_000014.8:g.51823646_51823647dup, NC_000014.8:g.51823645_51823647dup, NC_000014.8:g.51823644_51823647dup, NC_000014.8:g.51823643_51823647dup, NC_000014.8:g.51823642_51823647dup, NC_000014.8:g.51823641_51823647dup, NC_000014.8:g.51823640_51823647dup, NC_000014.8:g.51823635_51823647dup
        4.

        rs1491205849 has merged into rs199998958 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          CG>- [Show Flanks]
          Chromosome:
          14:51365694 (GRCh38)
          14:51832412 (GRCh37)
          Canonical SPDI:
          NC_000014.9:51365692:GCG:G
          Gene:
          LINC00640 (Varview)
          Functional Consequence:
          downstream_transcript_variant,500B_downstream_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0.012898/153 (ALFA)
          -=0.000958/16 (TOMMO)
          -=0.0033/6 (Korea1K)
          -=0.017565/2310 (GnomAD)
          -=0.020067/12 (NorthernSweden)
          -=0.316613/1174 (TWINSUK)
          GC=0.376597/1886 (1000Genomes)
          HGVS:
          5.

          rs1491135169 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            CA>- [Show Flanks]
            Chromosome:
            14:51356906 (GRCh38)
            14:51823624 (GRCh37)
            Canonical SPDI:
            NC_000014.9:51356905:CA:
            Gene:
            LINC00640 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            -=0.00084/10 (ALFA)
            HGVS:
            6.

            rs1491052631 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              CG>- [Show Flanks]
              Chromosome:
              14:51365690 (GRCh38)
              14:51832408 (GRCh37)
              Canonical SPDI:
              NC_000014.9:51365688:GCG:G
              Gene:
              LINC00640 (Varview)
              Functional Consequence:
              500B_downstream_variant,downstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0.00228/27 (ALFA)
              -=0.01444/1186 (GnomAD)
              HGVS:
              7.

              rs1491012549 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                CA>- [Show Flanks]
                Chromosome:
                14:51352544 (GRCh38)
                14:51819262 (GRCh37)
                Canonical SPDI:
                NC_000014.9:51352542:ACA:A
                Gene:
                LINC00640 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0.00008/1 (ALFA)
                HGVS:
                8.

                rs1490769338 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  14:51336707 (GRCh38)
                  14:51803425 (GRCh37)
                  Canonical SPDI:
                  NC_000014.9:51336706:T:C
                  Gene:
                  LINC00640 (Varview), LOC124900595 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0.000071/1 (ALFA)
                  C=0.000015/4 (TOPMED)
                  C=0.000021/3 (GnomAD)
                  HGVS:
                  9.

                  rs1490753615 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A,C [Show Flanks]
                    Chromosome:
                    14:51353222 (GRCh38)
                    14:51819940 (GRCh37)
                    Canonical SPDI:
                    NC_000014.9:51353221:G:A,NC_000014.9:51353221:G:C
                    Gene:
                    LINC00640 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (TOPMED)
                    A=0.000022/3 (GnomAD)
                    HGVS:
                    10.

                    rs1490607209 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      14:51337308 (GRCh38)
                      14:51804026 (GRCh37)
                      Canonical SPDI:
                      NC_000014.9:51337307:A:G
                      Gene:
                      LINC00640 (Varview), LOC124900595 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1490489484 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        AGTAAGGGCTCAATACAGCTAT>- [Show Flanks]
                        Chromosome:
                        14:51360142 (GRCh38)
                        14:51826860 (GRCh37)
                        Canonical SPDI:
                        NC_000014.9:51360138:TATAGTAAGGGCTCAATACAGCTAT:TAT
                        Gene:
                        LINC00640 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        TAT=0./0 (ALFA)
                        -=0.000004/1 (TOPMED)
                        -=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1490411440 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          14:51364422 (GRCh38)
                          14:51831140 (GRCh37)
                          Canonical SPDI:
                          NC_000014.9:51364421:A:G
                          Gene:
                          LINC00640 (Varview)
                          Functional Consequence:
                          intron_variant
                          HGVS:
                          13.

                          rs1490336767 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>T [Show Flanks]
                            Chromosome:
                            14:51359418 (GRCh38)
                            14:51826136 (GRCh37)
                            Canonical SPDI:
                            NC_000014.9:51359417:A:T
                            Gene:
                            LINC00640 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0.000322/5 (ALFA)
                            T=0.000228/32 (GnomAD)
                            T=0.001116/5 (Estonian)
                            HGVS:
                            14.

                            rs1490311361 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              14:51356900 (GRCh38)
                              14:51823618 (GRCh37)
                              Canonical SPDI:
                              NC_000014.9:51356899:C:T
                              Gene:
                              LINC00640 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000018/2 (GnomAD)
                              HGVS:
                              15.

                              rs1490280055 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>A [Show Flanks]
                                Chromosome:
                                14:51336219 (GRCh38)
                                14:51802937 (GRCh37)
                                Canonical SPDI:
                                NC_000014.9:51336218:T:A
                                Gene:
                                LINC00640 (Varview), LOC124900595 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                A=0./0 (ALFA)
                                HGVS:
                                16.

                                rs1490149734 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>A [Show Flanks]
                                  Chromosome:
                                  14:51359035 (GRCh38)
                                  14:51825753 (GRCh37)
                                  Canonical SPDI:
                                  NC_000014.9:51359034:T:A
                                  Gene:
                                  LINC00640 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1490140061 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    ACTT>- [Show Flanks]
                                    Chromosome:
                                    14:51360177 (GRCh38)
                                    14:51826895 (GRCh37)
                                    Canonical SPDI:
                                    NC_000014.9:51360173:CTTACTT:CTT
                                    Gene:
                                    LINC00640 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    CTT=0./0 (ALFA)
                                    -=0.000004/1 (TOPMED)
                                    -=0.000014/2 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1490028364 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A [Show Flanks]
                                      Chromosome:
                                      14:51331880 (GRCh38)
                                      14:51798598 (GRCh37)
                                      Canonical SPDI:
                                      NC_000014.9:51331879:C:A
                                      Gene:
                                      LINC00640 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,2KB_upstream_variant
                                      HGVS:
                                      19.

                                      rs1489985202 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        14:51359652 (GRCh38)
                                        14:51826370 (GRCh37)
                                        Canonical SPDI:
                                        NC_000014.9:51359651:C:T
                                        Gene:
                                        LINC00640 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1489822463 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>C [Show Flanks]
                                          Chromosome:
                                          14:51355745 (GRCh38)
                                          14:51822463 (GRCh37)
                                          Canonical SPDI:
                                          NC_000014.9:51355744:A:C
                                          Gene:
                                          LINC00640 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0.000071/1 (ALFA)
                                          C=0.000004/1 (TOPMED)
                                          C=0.000007/1 (GnomAD)
                                          HGVS:

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