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Links from Gene

Items: 1 to 20 of 2458

1.

rs1490692399 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>G [Show Flanks]
    Chromosome:
    5:95850954 (GRCh38)
    5:95186658 (GRCh37)
    Canonical SPDI:
    NC_000005.10:95850953:T:G
    Gene:
    LINC01554 (Varview), LOC124901029 (Varview)
    Functional Consequence:
    genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0.000635/12 (ALFA)
    G=0.000008/2 (TOPMED)
    G=0.000143/20 (GnomAD)
    G=0.002679/12 (Estonian)
    HGVS:
    2.

    rs1490568378 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G,T [Show Flanks]
      Chromosome:
      5:95854330 (GRCh38)
      5:95190034 (GRCh37)
      Canonical SPDI:
      NC_000005.10:95854329:C:G,NC_000005.10:95854329:C:T
      Gene:
      LINC01554 (Varview), LOC124901029 (Varview)
      Functional Consequence:
      intron_variant,upstream_transcript_variant,2KB_upstream_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1489739424 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G [Show Flanks]
        Chromosome:
        5:95852800 (GRCh38)
        5:95188504 (GRCh37)
        Canonical SPDI:
        NC_000005.10:95852799:C:G
        Gene:
        LINC01554 (Varview), LOC124901029 (Varview)
        Functional Consequence:
        intron_variant,upstream_transcript_variant,2KB_upstream_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000007/1 (GnomAD)
        G=0.000026/7 (TOPMED)
        HGVS:
        4.

        rs1489734744 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          5:95854885 (GRCh38)
          5:95190589 (GRCh37)
          Canonical SPDI:
          NC_000005.10:95854884:T:C
          Gene:
          LINC01554 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          C=0./0 (ALFA)
          C=0.000011/3 (TOPMED)
          HGVS:
          5.

          rs1489672750 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            5:95853796 (GRCh38)
            5:95189500 (GRCh37)
            Canonical SPDI:
            NC_000005.10:95853795:T:C
            Gene:
            LINC01554 (Varview), LOC124901029 (Varview)
            Functional Consequence:
            intron_variant,upstream_transcript_variant,2KB_upstream_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000011/3 (TOPMED)
            C=0.000672/11 (TOMMO)
            C=0.002183/4 (Korea1K)
            C=0.002738/8 (KOREAN)
            HGVS:
            6.

            rs1489645990 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>A,C [Show Flanks]
              Chromosome:
              5:95851899 (GRCh38)
              5:95187603 (GRCh37)
              Canonical SPDI:
              NC_000005.10:95851898:T:A,NC_000005.10:95851898:T:C
              Gene:
              LINC01554 (Varview), LOC124901029 (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              HGVS:
              7.

              rs1489259047 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>A [Show Flanks]
                Chromosome:
                5:95852359 (GRCh38)
                5:95188063 (GRCh37)
                Canonical SPDI:
                NC_000005.10:95852358:T:A
                Gene:
                LINC01554 (Varview), LOC124901029 (Varview)
                Functional Consequence:
                genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
                Validated:
                by frequency
                MAF:
                A=0.000014/2 (GnomAD)
                HGVS:
                8.

                rs1489220360 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>T [Show Flanks]
                  Chromosome:
                  5:95851647 (GRCh38)
                  5:95187351 (GRCh37)
                  Canonical SPDI:
                  NC_000005.10:95851646:G:T
                  Gene:
                  LINC01554 (Varview), LOC124901029 (Varview)
                  Functional Consequence:
                  genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  HGVS:
                  9.

                  rs1489094237 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    5:95860016 (GRCh38)
                    5:95195720 (GRCh37)
                    Canonical SPDI:
                    NC_000005.10:95860015:C:T
                    Gene:
                    LINC01554 (Varview), LOC105379091 (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000008/2 (TOPMED)
                    T=0.000014/2 (GnomAD)
                    HGVS:
                    10.

                    rs1488935586 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      5:95859566 (GRCh38)
                      5:95195270 (GRCh37)
                      Canonical SPDI:
                      NC_000005.10:95859565:G:A
                      Gene:
                      LINC01554 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1488233858 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        5:95851249 (GRCh38)
                        5:95186953 (GRCh37)
                        Canonical SPDI:
                        NC_000005.10:95851248:C:T
                        Gene:
                        LINC01554 (Varview), LOC124901029 (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
                        HGVS:
                        12.

                        rs1487746421 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          5:95853814 (GRCh38)
                          5:95189518 (GRCh37)
                          Canonical SPDI:
                          NC_000005.10:95853813:G:A
                          Gene:
                          LINC01554 (Varview), LOC124901029 (Varview)
                          Functional Consequence:
                          intron_variant,upstream_transcript_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000014/2 (GnomAD)
                          A=0.000023/6 (TOPMED)
                          HGVS:
                          13.

                          rs1487683775 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            5:95852890 (GRCh38)
                            5:95188594 (GRCh37)
                            Canonical SPDI:
                            NC_000005.10:95852889:C:T
                            Gene:
                            LINC01554 (Varview), LOC124901029 (Varview)
                            Functional Consequence:
                            intron_variant,upstream_transcript_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (TOPMED)
                            T=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1487637451 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              5:95859418 (GRCh38)
                              5:95195122 (GRCh37)
                              Canonical SPDI:
                              NC_000005.10:95859417:A:G
                              Gene:
                              LINC01554 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (TOPMED)
                              G=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1486737962 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                G>- [Show Flanks]
                                Chromosome:
                                5:95851101 (GRCh38)
                                5:95186805 (GRCh37)
                                Canonical SPDI:
                                NC_000005.10:95851100:GGG:GG
                                Gene:
                                LINC01554 (Varview), LOC124901029 (Varview)
                                Functional Consequence:
                                genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                GG=0./0 (ALFA)
                                -=0.000004/1 (TOPMED)
                                HGVS:
                                16.

                                rs1486372991 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  5:95851404 (GRCh38)
                                  5:95187108 (GRCh37)
                                  Canonical SPDI:
                                  NC_000005.10:95851403:G:A
                                  Gene:
                                  LINC01554 (Varview), LOC124901029 (Varview)
                                  Functional Consequence:
                                  genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000029/4 (GnomAD)
                                  A=0.00003/8 (TOPMED)
                                  A=0.000156/1 (1000Genomes)
                                  HGVS:
                                  17.

                                  rs1486230023 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    5:95856806 (GRCh38)
                                    5:95192510 (GRCh37)
                                    Canonical SPDI:
                                    NC_000005.10:95856805:G:A
                                    Gene:
                                    LINC01554 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000007/1 (GnomAD)
                                    A=0.000015/4 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1486105072 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      5:95853945 (GRCh38)
                                      5:95189649 (GRCh37)
                                      Canonical SPDI:
                                      NC_000005.10:95853944:G:A
                                      Gene:
                                      LINC01554 (Varview), LOC124901029 (Varview)
                                      Functional Consequence:
                                      intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      A=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1485902507 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        5:95857424 (GRCh38)
                                        5:95193128 (GRCh37)
                                        Canonical SPDI:
                                        NC_000005.10:95857423:T:C
                                        Gene:
                                        LINC01554 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1485672801 [Homo sapiens]
                                          Variant type:
                                          DEL
                                          Alleles:
                                          T>- [Show Flanks]
                                          Chromosome:
                                          5:95858670 (GRCh38)
                                          5:95194374 (GRCh37)
                                          Canonical SPDI:
                                          NC_000005.10:95858669:T:
                                          Gene:
                                          LINC01554 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          -=0./0 (ALFA)
                                          -=0.000008/2 (TOPMED)
                                          -=0.000014/2 (GnomAD)
                                          HGVS:

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