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Items: 1 to 20 of 3021

1.

rs1491529239 has merged into rs201865854 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->GTT,T [Show Flanks]
    Chromosome:
    14:106493742 (GRCh38)
    14:106949756 (GRCh37)
    Canonical SPDI:
    NC_000014.9:106493742:T:TGTT,NC_000014.9:106493742:T:TT
    Gene:
    LINC00221 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TGTT=0./0 (ALFA)
    HGVS:
    2.

    rs1491347967 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      GA>-,GAGA [Show Flanks]
      Chromosome:
      14:106483244 (GRCh38)
      14:106939251 (GRCh37)
      Canonical SPDI:
      NC_000014.9:106483236:AGAGAGAGA:AGAGAGA,NC_000014.9:106483236:AGAGAGAGA:AGAGAGAGAGA
      Gene:
      LINC00221 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      AGAGAGAGAGA=0.00017/2 (ALFA)
      HGVS:
      3.

      rs1491179092 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        AA>- [Show Flanks]
        Chromosome:
        14:106483236 (GRCh38)
        14:106939243 (GRCh37)
        Canonical SPDI:
        NC_000014.9:106483235:AA:
        Gene:
        LINC00221 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        -=0./0 (ALFA)
        -=0.000008/1 (GnomAD)
        -=0.000011/3 (TOPMED)
        HGVS:
        4.

        rs1490699766 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          14:106481113 (GRCh38)
          14:106937120 (GRCh37)
          Canonical SPDI:
          NC_000014.9:106481112:A:G
          Gene:
          LINC00221 (Varview)
          Functional Consequence:
          upstream_transcript_variant,2KB_upstream_variant
          Validated:
          by frequency,by alfa
          MAF:
          G=0.000071/1 (ALFA)
          G=0.000004/1 (TOPMED)
          HGVS:
          5.

          rs1490696893 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            T>- [Show Flanks]
            Chromosome:
            14:106495967 (GRCh38)
            14:106951981 (GRCh37)
            Canonical SPDI:
            NC_000014.9:106495966:T:
            Gene:
            LINC00221 (Varview)
            Functional Consequence:
            500B_downstream_variant,downstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            -=0./0 (ALFA)
            -=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1490661822 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              AACA>- [Show Flanks]
              Chromosome:
              14:106488250 (GRCh38)
              14:106944257 (GRCh37)
              Canonical SPDI:
              NC_000014.9:106488247:CAAACA:CA
              Gene:
              LINC00221 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              CA=0./0 (ALFA)
              -=0.000014/2 (GnomAD)
              -=0.000019/5 (TOPMED)
              HGVS:
              7.

              rs1490407700 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                14:106487249 (GRCh38)
                14:106943256 (GRCh37)
                Canonical SPDI:
                NC_000014.9:106487248:G:A
                Gene:
                LINC00221 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0.000071/1 (ALFA)
                A=0.000029/4 (GnomAD)
                A=0.00003/8 (TOPMED)
                HGVS:
                8.

                rs1490208673 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A,T [Show Flanks]
                  Chromosome:
                  14:106480750 (GRCh38)
                  14:106936757 (GRCh37)
                  Canonical SPDI:
                  NC_000014.9:106480749:G:A,NC_000014.9:106480749:G:T
                  Gene:
                  LINC00221 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000008/2 (TOPMED)
                  HGVS:
                  9.

                  rs1490137648 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C,G [Show Flanks]
                    Chromosome:
                    14:106487916 (GRCh38)
                    14:106943923 (GRCh37)
                    Canonical SPDI:
                    NC_000014.9:106487915:T:C,NC_000014.9:106487915:T:G
                    Gene:
                    LINC00221 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000004/1 (TOPMED)
                    HGVS:
                    10.

                    rs1489682101 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      14:106482989 (GRCh38)
                      14:106938996 (GRCh37)
                      Canonical SPDI:
                      NC_000014.9:106482988:C:T
                      Gene:
                      LINC00221 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      HGVS:
                      11.

                      rs1489598559 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        14:106486697 (GRCh38)
                        14:106942704 (GRCh37)
                        Canonical SPDI:
                        NC_000014.9:106486696:T:C
                        Gene:
                        LINC00221 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0.000071/1 (ALFA)
                        C=0.000021/3 (GnomAD)
                        HGVS:
                        12.

                        rs1489484180 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A,C [Show Flanks]
                          Chromosome:
                          14:106485819 (GRCh38)
                          14:106941826 (GRCh37)
                          Canonical SPDI:
                          NC_000014.9:106485818:G:A,NC_000014.9:106485818:G:C
                          Gene:
                          LINC00221 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0.000424/8 (ALFA)
                          C=0.000257/36 (GnomAD)
                          C=0.000283/75 (TOPMED)
                          A=0.000779/13 (TOMMO)
                          HGVS:
                          13.

                          rs1489249017 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>G [Show Flanks]
                            Chromosome:
                            14:106489782 (GRCh38)
                            14:106945789 (GRCh37)
                            Canonical SPDI:
                            NC_000014.9:106489781:T:G
                            Gene:
                            LINC00221 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000004/1 (TOPMED)
                            G=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1489204464 has merged into rs1265483117 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              AAAA>-,AAA,AAAAA [Show Flanks]
                              Chromosome:
                              14:106494903 (GRCh38)
                              14:106950917 (GRCh37)
                              Canonical SPDI:
                              NC_000014.9:106494898:AAAAAAAA:AAAA,NC_000014.9:106494898:AAAAAAAA:AAAAAAA,NC_000014.9:106494898:AAAAAAAA:AAAAAAAAA
                              Gene:
                              LINC00221 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              AAAAAAA=0./0 (ALFA)
                              A=0.00011/2 (TOMMO)
                              HGVS:
                              15.

                              rs1488348587 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A [Show Flanks]
                                Chromosome:
                                14:106482075 (GRCh38)
                                14:106938081 (GRCh37)
                                Canonical SPDI:
                                NC_000014.9:106482074:C:A
                                Gene:
                                LINC00221 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.00087/15 (TOMMO)
                                A=0.00137/4 (KOREAN)
                                HGVS:
                                16.

                                rs1488265854 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  14:106489302 (GRCh38)
                                  14:106945309 (GRCh37)
                                  Canonical SPDI:
                                  NC_000014.9:106489301:A:G
                                  Gene:
                                  LINC00221 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000029/4 (GnomAD)
                                  G=0.000034/9 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1488190397 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A,C [Show Flanks]
                                    Chromosome:
                                    14:106481745 (GRCh38)
                                    14:106937751 (GRCh37)
                                    Canonical SPDI:
                                    NC_000014.9:106481744:G:A,NC_000014.9:106481744:G:C
                                    Gene:
                                    LINC00221 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0./0 (ALFA)
                                    HGVS:
                                    18.

                                    rs1488080662 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>C [Show Flanks]
                                      Chromosome:
                                      14:106488920 (GRCh38)
                                      14:106944927 (GRCh37)
                                      Canonical SPDI:
                                      NC_000014.9:106488919:A:C
                                      Gene:
                                      LINC00221 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_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:
                                      19.

                                      rs1487904927 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        14:106489955 (GRCh38)
                                        14:106945962 (GRCh37)
                                        Canonical SPDI:
                                        NC_000014.9:106489954:C:T
                                        Gene:
                                        LINC00221 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000007/1 (GnomAD)
                                        T=0.000008/2 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1487753229 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          14:106488218 (GRCh38)
                                          14:106944225 (GRCh37)
                                          Canonical SPDI:
                                          NC_000014.9:106488217:G:A
                                          Gene:
                                          LINC00221 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0.000071/1 (ALFA)
                                          A=0.000008/2 (TOPMED)
                                          HGVS:

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